Cerebellar ataxia-hypogonadism syndrome
Synonyms: Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar ataxia-hypogonadism syndrome | Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia |
| fr | Syndrome d'ataxie cérébelleuse-hypogonadisme | Déficit en LHRH · Syndrome de Gordon-Holmes |
| de | Zerebelläre Ataxie - Hypogonadismus | Gordon-Holmes-Syndrom · Mangel an LH-Releasing-Hormon mit Ataxie |
| es | Síndrome de ataxia cerebelosa-hipogonadismo | Deficiencia de liberación de hormona luteinizante con ataxia · Síndrome de Gordon-Holmes |
| it | Atassia cerebellare - ipogonadismo | Deficit dell'ormone rilasciante l'ormone luteinizzante con atassia · Sindrome di Gordon-Holmes |
| nl | Cerebellaire ataxie - hypogonadisme-syndroom | Deficiëntie van luteïniserend hormoon-'releasing' hormoon met ataxie · Deficiëntie van luteïniserend-hormoonvrijmakend hormoon met ataxie · Syndroom van Gordon-Holmes |
| pt | Síndrome de ataxia cerebelosa-hipogonadismo | Deficiência de LHRH com ataxia · Deficiência de hormona libertadora da hormona luteinizante com ataxia · Síndrome Gordon-Holmes |
| pl | Ataksja móżdżkowa - hipogonadyzm | Niedobór gonadoliberyny z ataksją · Zespół Gordona Holmesa |
| cs | Syndrom zahrnující cerebelární ataxii a hypogonadismus | Gordon Holmesův syndrom · Deficit hormonu uvolňujícího luteinizační hormon s ataxií |
| uk | Синдром мозочкової атаксії-гіпогонадизму | Синдром Гордона-Холмса · Дефіцит лютеїнізуючого гормону з атаксією |
| zh | 小脑共济失调-性腺功能减退综合征 | 黄体素释放激素缺乏伴共济失调 |
| tr | Serebellar ataksi-hipogonadizm sendromu | Gordon-Holmes sendromu · Ataksi ile birlikte luteinize edici hormon salgılayan hormon eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212840 | E | validated | |
| OMIM | 605672 | BTNT | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0008935 | E | validated | |
| MeSH | C565870 | E | validated | |
| UMLS | C1859305 | E | validated | |
| GARD | 3314 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNF216 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21698 | ENSG00000011275 | 609948 | 7p22.1 | ring finger protein 216 | 23656588[PMID] |
| PNPLA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:16268 | ENSG00000032444 | 603197 | 19p13.2 | patatin like domain 6, lysophospholipase | 24355708[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0001251 | Ataxia | |
| HP:0000144 | Decreased fertility | |
| HP:0000771 | Gynecomastia | |
| HP:0000135 | Hypogonadism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| Frequent (79-30%) | ||
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001252 | Hypotonia | |
| Occasional (29-5%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000726 | Dementia | |
| HP:0000751 | Personality changes | |
| HP:0004322 | Short stature | |
| HP:0002558 | Supernumerary nipple | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1173
- This record as JSON: /data/d/1173.json