Топ-100
  • H syndrome H syndrome

    H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the SLC29A3 gene which enco...

  • Gordon syndrome Gordon syndrome

    Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet.

  • Glycogen storage disease type IX Glycogen storage disease type IX

    Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inher...

  • Glutaminase deficiency Glutaminase deficiency

    This condition is caused by mutations in the glutaminase GLS gene. The inheritance of this condition is autosomal recessive. Milder cases have been reported ...

  • Global Genes Global Genes

    Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases. The organization is associated wit...

  • Genetics of GnRH deficiency conditions Genetics of GnRH deficiency conditions

    To date, at least twenty five different genes have been implicated in causing gonadotropin-releasing hormone deficiency conditions such as Kallmann syndrome ...

  • Enamel-renal syndrome Enamel-renal syndrome

    Enamel-Renal syndrome is a rare autosomal recessive condition. This condition is also known as idiopathic multicentric osteolysis with nephropathy. It is cha...

  • Dunnigan familial partial lipodystrophy Dunnigan familial partial lipodystrophy

    Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as, is a rare monogenic form of insulin resistance characterized by ...

  • Down syndrome Down syndrome

    Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associat...

  • DOCK8 deficiency DOCK8 deficiency

    DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characte...

  • Distal spinal muscular atrophy type 2 Distal spinal muscular atrophy type 2

    Distal spinal muscular atrophy type 2, also known as Jerash type distal hereditary motor neuropathy - is a very rare childhood-onset genetic disorder charact...

  • De Barsy syndrome De Barsy syndrome

    De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa as well as other eye, musculoskeletal, and neurological abnorma...

  • Creatine transporter defect Creatine transporter defect

    Creatine Transporter Deficiency is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles due to defec...

  • Costeff syndrome Costeff syndrome

    Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene. It is typically associated with the on...

  • Cole-Carpenter syndrome Cole-Carpenter syndrome

    Cole-Carpenter syndrome is a rare autosomal recessive medical condition in humans. It is characterised by dysmorphic features and a tendency to fractures.

  • Ciliopathy Ciliopathy

    A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia ...

  • Chronic enteropathy associated with SLCO2A1 gene Chronic enteropathy associated with SLCO2A1 gene

    Chronic enteropathy associated with SLCO2A1 gene is a rare autosomal recessive enteropathy that was first described in 1968. This condition was previously na...

  • Choroideremia Choroideremia

    Choroideremia is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50.000 males. The disease causes a gradual loss...

  • CHDI Foundation CHDI Foundation

    The CHDI Foundation, Inc., is a United States-based non-profit biomedical foundation that aims to "rapidly discover and develop drugs that delay or slow the ...

  • CHARGE syndrome CHARGE syndrome

    CHARGE syndrome is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the co...

  • Cerebroretinal microangiopathy with calcifications and cysts Cerebroretinal microangiopathy with calcifications and cysts

    Cerebroretinal microangiopathy with calcifications and cysts is a rare genetic disorder, which affects multiple organs. Its hallmarks are widespread progress...

  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

    Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, is disease of the arteries in the brain, which causes tissue los...

  • Cerebellar abiotrophy Cerebellar abiotrophy

    Cerebellar abiotrophy, also called cerebellar cortical abiotrophy, or cerebellar degeneration, is a genetic neurological disease in animals best known to aff...

  • Carey Fineman Ziter syndrome Carey Fineman Ziter syndrome

    Several features have been described in this syndrome. These include hydronephrosis bilateral clubfeet talipes Mobius sequence cleft palate small pons microg...

  • Brunner syndrome Brunner syndrome

    Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ, problematic impulsive ...

  • Bruck syndrome Bruck syndrome

    Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. Both diseases are uncommon, but concurr...

  • Brody myopathy Brody myopathy

    Brody myopathy, is a rare disorder that affects skeletal muscle function. BD was first characterized in 1969 by Dr. Irwin A. Brody at Duke University Medical...

  • Branchio-oculo-facial syndrome Branchio-oculo-facial syndrome

    Branchio-oculo-facial syndrome is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a ...

  • Borjeson–Forssman–Lehmann syndrome Borjeson–Forssman–Lehmann syndrome

    Some symptoms of BFLS are discernible at birth, but they develop over time. Babies with BFLS are born at normal weight but have muscle hypotonia and difficul...

  • Autosomal dominant retinal vasculopathy with cerebral leukodystrophy Autosomal dominant retinal vasculopathy with cerebral leukodystrophy

    Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy is an inherited condition resulting from a frameshift mutation to the TREX1 gene. This g...

  • Autosomal dominant porencephaly type I Autosomal dominant porencephaly type I

    Autosomal dominant porencephaly type I is a rare type of porencephaly that causes cysts to grow on the brain and damage to small blood vessels, which can lea...

  • ATR-16 syndrome ATR-16 syndrome

    ATR-16 syndrome affects the blood, development, and brain; symptoms vary based on the specific genes deleted on chromosome 16. Because it is so rare, it is d...

  • Atelosteogenesis type I Atelosteogenesis type I

    Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and is associated with a very poor prognosis for the baby....

  • Arginine: glycine amidinotransferase deficiency Arginine: glycine amidinotransferase deficiency

    Arginine:glycine amidinotransferase deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine a...

  • Apparent mineralocorticoid excess syndrome Apparent mineralocorticoid excess syndrome

    Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension and hypokalemia. It results from mutations in the HSD11B2 gene, whi...

  • Andermann syndrome Andermann syndrome

    Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy and Charlevoix disease, among other names, is a very rare neurodegenerative g...

  • AFF2 AFF2

    AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene. Mutations in AFF2 are implicated in cases of breast cancer. CCG repeat expa...

  • Adenosine deaminase 2 deficiency Adenosine deaminase 2 deficiency

    Adenosine deaminase 2 deficiency is a vasculitis syndrome. It is due to mutations in the ADA2 gene which encodes the adenosine deaminase 2 protein. The clini...

  • Acyl-CoA oxidase deficiency Acyl-CoA oxidase deficiency

    Acyl-CoA oxidase deficiency is a rare disorder that leads to significant damage and deterioration of nervous system functions. It is caused by pathogenic var...

  • ACDC (medicine) ACDC (medicine)

    Arterial calcification due to deficiency of CD73 is a rare genetic disorder that causes calcium buildup in the arteries and joints of the hands and feet, and...

  • 3-Hydroxyisobutyryl-CoA deacylase deficiency 3-Hydroxyisobutyryl-CoA deacylase deficiency

    3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurod...

  • Genetic disorder Genetic disorder

    A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene or multiple genes o...

Genetic diseases and disorders

few disorders are inherited on the Y chromosome or mitochondrial DNA. There are well over 6, 000 known genetic disorders and new genetic disorders are
following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance disease - causing gene is common
Related Disorders Bone and Joints Related Growth Disorders Eye Disorders Gastro - Intestinal Disorders Hearing Disorders Lysosomal Disorders Multi - system
Huntington s disease - like syndromes HD - like syndromes, or HDL syndromes are a family of inherited neurodegenerative diseases that closely resemble Huntington s
twitches Neuromuscular disease can be caused by autoimmune disorders genetic hereditary disorders and some forms of the collagen disorder Ehlers Danlos Syndrome
of disease infectious diseases deficiency diseases hereditary diseases including both genetic diseases and non - genetic hereditary diseases and physiological
range of possible disorders Chronic genetic diseases are commonly classified as rare. Among numerous possibilities, rare diseases may result from bacterial
Hematologic diseases are disorders which primarily affect the blood blood - forming organs. Hematologic diseases include rare genetic disorders anemia
include genetic disorders congenital abnormalities or disorders infections, lifestyle or environmental health problems including malnutrition, and brain
February 1996 Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders Clinical Genetics. 49 2 57 8
of endocrine diseases List of eye diseases and disorders List of intestinal diseases List of infectious diseases List of human disease case fatality

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to
Central nervous system diseases also known as central nervous system disorders are a group of neurological disorders that affect the structure or function
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Broadly
Trinucleotide repeat disorders are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides
of metabolic disorders are: Acid - base imbalance Metabolic brain diseases Disorders of calcium metabolism DNA repair - deficiency disorders Glucose metabolism
There are several autosomal recessive genetic disorders that are more common in ethnically Jewish populations, particularly Ashkenazi Jews, than the population
Lysosomal storage diseases LSDs ˌlaɪsəˈsoʊməl are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function
autoimmunity Diseases in which inflammation or weakness of collagen tends to occur are also referred to as collagen diseases Collagen vascular diseases can be
Communication, speech and language disorders Genetic disorders such as fragile - X syndrome, Down syndrome, attention deficit hyperactivity disorder schizophrenia

anemia Some types of myopathy Lyme disease Late Primary immune deficiency diseases are those caused by inherited genetic mutations. Secondary or acquired
protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders predict risks for specific conditions
intracellular material are part of the lysosomal storage diseases family of disorders Many lipid storage disorders can be classified into the subgroup of sphingolipidoses
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are
Chapter III of ICD - 10 deals with diseases of the blood, for example anaemia, blood - forming organs, and certain disorders involving the immune mechanism
Adrenal gland disorders or diseases are conditions that interfere with the normal functioning of the adrenal glands. Adrenal disorders may cause hyperfunction
research. Genetic analysis may be done to identify genetic inherited disorders and also to make a differential diagnosis in certain somatic diseases such as
heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single

Reparagen

Reparagen is a joint health product that scientists from the Medical College of Albany, ran clinical trials to test the theory that the combination of cat guianensis and Lepidium meyenii can turn on insulin-like growth factor

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene or multiple genes o...

Sclerosteosis

Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessi...

3-Hydroxyisobutyryl-CoA deacylase deficiency

3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurod...

7q11.23 duplication syndrome

7q11.23 duplication syndrome is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7. This syndrome is ...

ACDC (medicine)

Arterial calcification due to deficiency of CD73 is a rare genetic disorder that causes calcium buildup in the arteries and joints of the hands and feet, and...

Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal ti...

Acromesomelic dysplasia

Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, h...

Acyl-CoA oxidase deficiency

Acyl-CoA oxidase deficiency is a rare disorder that leads to significant damage and deterioration of nervous system functions. It is caused by pathogenic var...

Adenosine deaminase 2 deficiency

Adenosine deaminase 2 deficiency is a vasculitis syndrome. It is due to mutations in the ADA2 gene which encodes the adenosine deaminase 2 protein. The clini...

AFF2

AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene. Mutations in AFF2 are implicated in cases of breast cancer. CCG repeat expa...

Al-Raqad syndrome

Al-Raqad syndrome is a congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad. Its characterized by: Congenital hypotoni...

Alternating hemiplegia

Alternating hemiplegia -also known as Crossed hemiplegia - is a form of hemiplegia that has an ipsilateral and contralateral presentation in different parts ...

Alternating hemiplegia of childhood

Alternating hemiplegia of childhood is an ultra-rare neurological disorder named for the transient episodes, often referred to as "attacks", of hemiplegia fr...

Andermann syndrome

Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy and Charlevoix disease, among other names, is a very rare neurodegenerative g...

Apparent mineralocorticoid excess syndrome

Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension and hypokalemia. It results from mutations in the HSD11B2 gene, whi...

Arginine: glycine amidinotransferase deficiency

Arginine:glycine amidinotransferase deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine a...

Aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency is a rare genetic disorder caused by mutations in the DDC gene, which encodes an enzyme called aromatic L-amin...

Atelosteogenesis type I

Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and is associated with a very poor prognosis for the baby....

ATR-16 syndrome

ATR-16 syndrome affects the blood, development, and brain; symptoms vary based on the specific genes deleted on chromosome 16. Because it is so rare, it is d...

Autosomal dominant porencephaly type I

Autosomal dominant porencephaly type I is a rare type of porencephaly that causes cysts to grow on the brain and damage to small blood vessels, which can lea...

Autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy is an inherited condition resulting from a frameshift mutation to the TREX1 gene. This g...

Bamforth–Lazarus syndrome

Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis. It is due to recessive mutations in forkhead/winged-helix domain transcr...

Benign hereditary chorea

Benign hereditary chorea, also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents in childhood with i...

Biemond syndrome

The family described by Biemond had a few members across four generations who had brachydactyly due to one short metacarpal and metatarsal, nystagmus, strabi...

Bilateral frontoparietal polymicrogyria

Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds i...

Birk-Barel syndrome

Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms include mental retardation, hypotonia, hyperactivity, and s...

Blue cone monochromacy

Blue cone monochromacy is an inherited eye disease that causes severely impaired color discrimination, low vision, nystagmus and photophobia due to the absen...

Borjeson–Forssman–Lehmann syndrome

Some symptoms of BFLS are discernible at birth, but they develop over time. Babies with BFLS are born at normal weight but have muscle hypotonia and difficul...

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a ...

Brody myopathy

Brody myopathy, is a rare disorder that affects skeletal muscle function. BD was first characterized in 1969 by Dr. Irwin A. Brody at Duke University Medical...

Bruck syndrome

Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. Both diseases are uncommon, but concurr...

Brunner syndrome

Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ, problematic impulsive ...

Carey Fineman Ziter syndrome

Several features have been described in this syndrome. These include hydronephrosis bilateral clubfeet talipes Mobius sequence cleft palate small pons microg...

Cerebellar abiotrophy

Cerebellar abiotrophy, also called cerebellar cortical abiotrophy, or cerebellar degeneration, is a genetic neurological disease in animals best known to aff...

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, is disease of the arteries in the brain, which causes tissue los...

Cerebral creatine deficiency

Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in creatine biosynthesis and utilization. Commonly affected ...

Cerebroretinal microangiopathy with calcifications and cysts

Cerebroretinal microangiopathy with calcifications and cysts is a rare genetic disorder, which affects multiple organs. Its hallmarks are widespread progress...

CHARGE syndrome

CHARGE syndrome is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the co...

CHDI Foundation

The CHDI Foundation, Inc., is a United States-based non-profit biomedical foundation that aims to "rapidly discover and develop drugs that delay or slow the ...

Choroideremia

Choroideremia is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50.000 males. The disease causes a gradual loss...

Chronic enteropathy associated with SLCO2A1 gene

Chronic enteropathy associated with SLCO2A1 gene is a rare autosomal recessive enteropathy that was first described in 1968. This condition was previously na...

Ciliopathy

A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia ...

Cole-Carpenter syndrome

Cole-Carpenter syndrome is a rare autosomal recessive medical condition in humans. It is characterised by dysmorphic features and a tendency to fractures.

Costeff syndrome

Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene. It is typically associated with the on...

Craniometaphyseal dysplasia

Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal facia...

Creatine transporter defect

Creatine Transporter Deficiency is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles due to defec...

De Barsy syndrome

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa as well as other eye, musculoskeletal, and neurological abnorma...

Degenerative suspensory ligament desmitis

Degenerative suspensory ligament desmitis, commonly called DSLD, also known as equine systemic proteoglycan accumulation, is a systemic disease of the connec...

Desmin-related myofibrillar myopathy

Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin wh...

Distal hereditary motor neuropathy type V

Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general, distal hereditary motor neuropathies affect the axons of ...

Distal spinal muscular atrophy type 2

Distal spinal muscular atrophy type 2, also known as Jerash type distal hereditary motor neuropathy - is a very rare childhood-onset genetic disorder charact...

DOCK8 deficiency

DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characte...

Down syndrome

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associat...

Dunnigan familial partial lipodystrophy

Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as, is a rare monogenic form of insulin resistance characterized by ...

Emanuel syndrome

Emanuel syndrome, also known as derivative 22 syndrome, or der syndrome, is a rare disorder associated with multiple congenital anomalies, including profound...

Enamel-renal syndrome

Enamel-Renal syndrome is a rare autosomal recessive condition. This condition is also known as idiopathic multicentric osteolysis with nephropathy. It is cha...

EUROCAT (medicine)

EUROCAT is a European organization that describes itself as "a network of population-based registries for the epidemiological surveillance of congenital anom...

Familial multiple intestinal atresia

Familial multiple intestinal atresia or Familial intestinal polyatresia syndrome is an inherited disorder where atresia occurs at multiple locations througho...

Genetics of GnRH deficiency conditions

To date, at least twenty five different genes have been implicated in causing gonadotropin-releasing hormone deficiency conditions such as Kallmann syndrome ...

Global Genes

Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases. The organization is associated wit...

Glutaminase deficiency

This condition is caused by mutations in the glutaminase GLS gene. The inheritance of this condition is autosomal recessive. Milder cases have been reported ...

Glycogen storage disease type IX

Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inher...

Gordon syndrome

Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet.

H syndrome

H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the SLC29A3 gene which enco...