Gordon Holmes Syndrome

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OMIM 57 212840 Orphanet 59 ORPHA1173 UMLS via Orphanet 74 C1859305 ICD10 via Orphanet 34 G11.8

MedGen 42 C1859305 MeSH 44 D002524 D007006 SNOMED-CT via HPO 69 258211005 33927004 17276009 13649004 274524001 563001 76976005 52448006 102943000 192073007 4754008 15296000 8619003 52073004 85102008 398151007 398152000 8011004 95646004 278849000 418143002 52522001 50956007 237836003 421689001 more UMLS 73 C1859305

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1173Disease definitionCerebellar ataxia-hypogonadismsyndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Gordon Holmes Syndrome, also known as cerebellar ataxia and hypogonadotropic hypogonadism, is related to hyperinsulinemic hypoglycemia, familial, 6 and boucher-neuhauser syndrome, and has symptoms including cerebellar ataxia An important gene associated with Gordon Holmes Syndrome is RNF216 (Ring Finger Protein 216). Affiliated tissues include brain, breast and pituitary, and related phenotypes are nystagmus and ataxia

OMIM : ⁵⁷ Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015). (212840)

UniProtKB/Swiss-Prot : ⁷⁵ Gordon Holmes syndrome: A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility.

Genetics Home Reference : ²⁵ Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems. One of the key features of the condition is reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). Many affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Some never undergo puberty. While some people with Gordon Holmes syndrome seem to have normal puberty, they develop other problems with the reproductive system later in life.

Clinical features from OMIM:

212840

Search NIH Clinical Center for Gordon Holmes Syndrome

Search GEO for disease gene expression data for Gordon Holmes Syndrome.