ORPHA:1062
Hereditary neurocutaneous malformation
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary neurocutaneous malformation | |
| fr | Malformation neurocutanée héréditaire | |
| de | Neurokutane Fehlbildung, hereditäre | |
| es | Malformación neurocutánea hereditaria | |
| it | Malformazione neurocutanea ereditaria | |
| nl | Erfelijke neurocutane malformatie | |
| pt | Malformação neurocutânea hereditária | |
| pl | Dziedziczny naczyniak nerwowo-skórny | |
| cs | Dědičné neurokutánní angiomy | |
| uk | Спадкова нейрошкірна вада розвитку | |
| zh | 遗传性神经皮肤畸形 | |
| tr | Kalıtsal nörokutanöz malformasyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106070 | E | validated | |
| ICD-10 | D18.0 | NTBT | attributed | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0007116 | E | validated | |
| MeSH | C536364 | E | validated | |
| UMLS | C1275084 | E | validated | |
| GARD | 676 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:673470Benign vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:166487Cerebral diseases of vascular origin with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:459543Rare genetic vascular tumor
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 families | Worldwide | Family(ies) | Validated | 537017[PMID]_3342546[PMID]_7189031[PMID]_998575[PMID]_14186663[PMID]_8929507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3342546[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.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001028 | Hemangioma | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002277 | Horner syndrome | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1062
- This record as JSON: /data/d/1062.json