Gemignani syndrome
historical
Synonyms: Spinocerebellar ataxia-amyotrophy-deafness syndrome · Spinocerebellar ataxia-amyotrophy-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- historical
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gemignani syndrome | Spinocerebellar ataxia-amyotrophy-deafness syndrome · Spinocerebellar ataxia-amyotrophy-hearing loss syndrome |
| fr | Syndrome de Gemignani | Syndrome d'ataxie spino-cérébelleuse-amyotrophie-surdité |
| de | Gemignani-Syndrom | Ataxie, spinozerebelläre - Amyotrophie - Schwerhörigkeit |
| es | Síndrome de Gemignani | Síndrome de ataxia espinocerebelosa-amiotrofia-hipoacusia · Síndrome de ataxia espinocerebelosa-amiotrofia-sordera |
| it | Sindrome di Gemignani | Atassia spinocerebellare - amiotrofia - sordità |
| nl | Syndroom van Gemignani | Spinocerebellaire ataxie - amyotrofie - doofheid-syndroom · Spinocerebellaire ataxie - amyotrofie - gehoorverlies-syndroom |
| pt | Síndrome Gemignani | Ataxia espinocerebelosa-amiotrofia-surdez |
| pl | Zespół Gemignaniego | Ataksja móżdżkowo-rdzeniowa - amiotrofia - głuchota |
| cs | Gemignaniho syndrom | Syndrom zahrnující spinocerebelární ataxii, amyotrofii a hluchotu |
| uk | Синдром Джеміньяні | Синдром спіноцеребелярної атаксії-аміотрофії-глухоти · Синдром спіноцеребеллярної атаксії-аміотрофії-глухоти |
| zh | Gemignani综合征 | 脊髓小脑共济失调-肌萎缩-听力损失综合征 |
| tr | Gemignani sendromu | Spinoserebellar ataksi-amiyotrofi-sağırlık sendromu · Spinoserebellar ataksi-amiyotrofi-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0016159 | E | validated | |
| MeSH | C537678 | E | validated | |
| UMLS | C2931587 | E | validated | |
| GARD | 2451 | 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:98099Autosomal recessive syndromic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3958822[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3958822[PMID] |
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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0001251 | Ataxia | |
| HP:0000823 | Delayed puberty | |
| HP:0003457 | EMG abnormality | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0001053 | Hypopigmented skin patches | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001249 | Intellectual disability | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2074
- This record as JSON: /data/d/2074.json