Genetics Home Reference :
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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.
In early adulthood, individuals with Gordon Holmes syndrome develop neurological problems, usually beginning with speech difficulties (dysarthria). As the condition worsens, affected individuals have problems with balance and coordination (cerebellar ataxia), often leading to difficulties with activities of daily living and a need for wheelchair assistance. Some affected individuals also develop memory problems and a decline in intellectual function (dementia).
MalaCards based summary :
Gordon Holmes Syndrome, also known as
cerebellar ataxia and hypogonadotropic hypogonadism, is related to
boucher-neuhauser syndrome and
hyperinsulinemic hypoglycemia, familial, 6, and has symptoms including
cerebellar ataxia An important gene associated with Gordon Holmes Syndrome is
RNF216 (Ring Finger Protein 216), and among its related pathways/superpathways are
Innate Immune System and
Class I MHC mediated antigen processing and presentation. Affiliated tissues include
brain,
breast and
pituitary, and related phenotypes are
neurological speech impairment and
optic atrophy
Disease Ontology :
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An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has material basis in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1.
NIH Rare Diseases :
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The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1173 Definition Cerebellar ataxia -hypogonadism syndrome 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.
OMIM :
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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)
KEGG :
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Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.
UniProtKB/Swiss-Prot :
73
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.