ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT

General Information (adopted from Orphanet):

Synonyms, Signs: DIVRY-VAN BOGAERT SYNDROME
Number of Symptoms 22
OrphanetNr:
OMIM Id: 206570
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001123) Visual field defect 30 / 7739
2
(HPO:0012377) Hemianopia 3 / 7739
3
(HPO:0002076) Migraine 41 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0001251) Ataxia 413 / 7739
6
(HPO:0000726) Dementia 131 / 7739
7
(HPO:0002136) Broad-based gait 30 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0002200) Pseudobulbar signs 15 / 7739
10
(HPO:0000712) Emotional lability 44 / 7739
11
(HPO:0007586) Telangiectases producing 'marbled' skin 1 / 7739
12
(HPO:0000965) Cutis marmorata 46 / 7739
13
(HPO:0000822) Hypertension rare [HPO:skoehler] 224 / 7739
14
(OMIM) Leptomeningeal angiomatosis 1 / 7739
15
(HPO:0002119) Ventriculomegaly 253 / 7739
16
(HPO:0012444) Brain atrophy 24 / 7739
17
(OMIM) Marbled skin due to telangiectasia 1 / 7739
18
(OMIM) Prominent venous pattern 1 / 7739
19
(HPO:0002977) Aplasia/Hypoplasia involving the central nervous system 4 / 7739
20
(OMIM) Distal tapering of the carotid, cerebellar, and meningeal arteries 1 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Hypodensity of the white matter 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Divry and Van Bogaert (1946) described brothers who presented with epilepsy, pseudobulbar syndrome, extrapyramidal signs, dementia, hemianopsia, and 'marbled skin' resulting from a telangiectatic network. Brain examination showed corticomeningeal angiomatosis and myelination of the white substance of the ...