Hereditary neurocutaneous angioma
General Information (adopted from Orphanet):
Synonyms, Signs: |
HEMANGIOMATOSIS, DISSEMINATED, INCLUDED |
Number of Symptoms | 13 |
OrphanetNr: | 1062 |
OMIM Id: |
106070
|
ICD-10: |
D18.0 |
UMLs: |
C1275084 |
MeSH: |
C536364 |
MedDRA: |
|
Snomed: |
403775003 |
Prevalence, inheritance and age of onset:
Prevalence: | < 10 families [Orphanet] |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Cerebral diseases of vascular origin with epilepsy
-Rare genetic disease -Rare neurologic disease Genetic neurovascular malformation -Rare genetic disease Malformation syndrome with hamartosis -Rare developmental defect during embryogenesis -Rare genetic disease Neurovascular malformation -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
|
(HPO:0000790) | Hematuria | 106 / 7739 | ||||
|
(HPO:0002277) | Horner syndrome | 7 / 7739 | ||||
|
(HPO:0001269) | Hemiparesis | 51 / 7739 | ||||
|
(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
|
(HPO:0012638) | Abnormality of nervous system physiology | Frequent [Orphanet] | 12 / 7739 | |||
|
(HPO:0002239) | Gastrointestinal hemorrhage | 97 / 7739 | ||||
|
(HPO:0001052) | Nevus flammeus | Very frequent [Orphanet] | 88 / 7739 | |||
|
(HPO:0001028) | Hemangioma | 23 / 7739 | ||||
|
(OMIM) | Episodic hematuria | 1 / 7739 | ||||
|
(OMIM) | Large irregular flat hemangiomas | 1 / 7739 | ||||
|
(OMIM) | Multiple dilated thin-walled cerebral vessels | 1 / 7739 | ||||
|
(OMIM) | Spinal angioma | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Zaremba et al. (1979) reported 4 affected persons in 3 generations, including a father and his 2 sons. One patient died at age 28 of multiple dilated thin-walled vessels in the cerebral substance; an extensive, irregularly shaped, pink ... |