Gordon holmes syndrome

Preferred Label : Gordon holmes syndrome;

Symbol : GDHS;

CISMeF acronym : CAHH; GDHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia and hypogonadotropic hypogonadism; Lhrh deficiency and ataxia; Luteinizing hormone-releasing hormone, deficiency of, with ataxia; CAHH;

Description : The cases of Volpe et al. (1963) had eunuchoid skeletal features and low urinary gonadotropins with the additional feature of cerebellar ataxia. Matthews and Rundle (1964) described 2 brothers with pure cerebellar ataxia beginning at about 20 years of age and associated with marked hypogonadism due apparently to low gonadotropin excretion. Conclusive evidence of autosomal recessive inheritance was presented also by Berciano et al. (1982) who observed affected brother and sister with consanguineous parents. They demonstrated, furthermore, that the hypogonadotropism was due to deficiency of hypothalamic LHRH (luteinizing hormone-releasing hormone; LHRH; 152760); raised gonadotropin levels were found after repeated stimulation with exogenous;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RING finger protein 216 gene (RNF216, 609948.0001);

Prefixed ID : #212840;

Détails

Origin ID

212840;

UMLS CUI

C1859305;

Automatic exact mappings (from CISMeF team)
- RNF216 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cerebellar ataxia-hypogonadism syndrome [ORDO Disease]
- Gordon Holmes syndrome [DO Concept]
- cerebellar ataxia and hypogonadotropic hypogonadism [MeSH concept]
- cerebellar ataxia and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
DO Cross reference
- Gordon Holmes syndrome [DO Concept]
Genes related to phenotype
- Ring finger protein 216 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skeletal system [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Chorioretinal dystrophy [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Infertility [HPO term]
- Oligomenorrhea [HPO term]
ORDO concept(s)
- Cerebellar ataxia-hypogonadism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar ataxia-hypogonadism syndrome [ORDO Disease]
- Gordon Holmes syndrome [DO Concept]
- Progressive cerebellar ataxia with hypogonadism (disorder) [SNOMED CT concept]
- cerebellar ataxia and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
- cerebellar ataxia and hypogonadotropic hypogonadism [MeSH concept]

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