Severe oculo-renal-cerebellar syndrome
historical
Synonyms: Hunter-Jurenka-Thompson syndrome · ORC syndrome · Oculorenocerebellar syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe oculo-renal-cerebellar syndrome | Hunter-Jurenka-Thompson syndrome · ORC syndrome · Oculorenocerebellar syndrome |
| fr | Syndrome oculo-rénal-cérébelleux sévère | Syndrome ORC · Syndrome de Hunter-Jurenka-Thompson · Syndrome oculo-réno-cérébelleux |
| de | Okulo-reno-zerebelläres Syndrom, schweres | Hunter-Jurenka-Thompson-Syndrom · ORC-Syndrom · Okulo-reno-zerebelläres Syndrom |
| es | Síndrome óculo-reno-cerebeloso grave | Síndrome ORC · Síndrome de Hunter-Jurenka-Thompson · Síndrome oculorrenocerebeloso |
| it | Sindrome oculo-reno-cerebellare grave | Sindrome di Hunter-Jurenka-Thompson |
| nl | Ernstig oculo-reno-cerebellair syndroom | ORC-syndroom · Oculorenocerebellair syndroom · Syndroom van Hunter-Jurenka-Thompson |
| pt | Síndrome oculo-reno-cerebeloso grave | Síndrome Hunter-Jurenka-Thompson |
| pl | Zespół oczno-nerkowo-móżdżkowy | Zespół Huntera, Jurenka i Thompson |
| cs | Vážný okulorenocerebelární syndrom | Hunterův-Jurenkův-Thompsonův syndrom · Hunter-Jurenka-Thompsonův syndrom |
| uk | Тяжкий окулонирковомозочковий синдром | Синдром Хантера-Юренка-Томпсона · Окулоретикулоцеребеллярний синдром · Синдром ORC |
| zh | 重症眼-肾-小脑综合征 | Hunter-Jurenka-Thompson综合征 |
| tr | Ağır okülo-renal-serebellar sendromu | ORC sendromu · Okülorenoserebellar sendrom · Hunter-Jurenka-Thompson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257970 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MeSH | C537739 | E | validated | |
| UMLS | C1850331 | E | validated | |
| GARD | 4050 | 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 (7):
- ORPHA:567562Disorder with multisystemic involvement and glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 5 cases | Worldwide | Case(s) | Validated | 7091183[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7091183[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001266 | Choreoathetosis | |
| HP:0100820 | Glomerulopathy | |
| HP:0001252 | Hypotonia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0001382 | Joint hypermobility | |
| HP:0000648 | Optic atrophy | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001347 | Hyperreflexia | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000400 | Macrotia | |
| HP:0010620 | Malar prominence | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000275 | Narrow face | |
| HP:0001852 | Sandal gap | |
| HP:0004322 | Short stature | |
| HP:0001264 | Spastic diplegia | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0009748 | Large earlobe | |
| HP:0000298 | Mask-like facies | |
| HP:0002650 | Scoliosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2715
- This record as JSON: /data/d/2715.json