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: Sort by abundance 

1
(HPO:0000790) Hematuria 106 / 7739
2
(HPO:0002277) Horner syndrome 7 / 7739
3
(HPO:0001269) Hemiparesis 51 / 7739
4
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
5
(HPO:0012638) Abnormality of nervous system physiology Frequent [Orphanet] 12 / 7739
6
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
7
(HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
8
(HPO:0001028) Hemangioma 23 / 7739
9
(OMIM) Episodic hematuria 1 / 7739
10
(OMIM) Large irregular flat hemangiomas 1 / 7739
11
(OMIM) Multiple dilated thin-walled cerebral vessels 1 / 7739
12
(OMIM) Spinal angioma 1 / 7739
13
(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 ...