MCID: ANG030
MIFTS: 19

Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Categories: Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

MalaCards integrated aliases for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert:

Name: Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert 57 19 71
Corticomeningeal Angiomatosis, Myelination of the White Substance of the Centrum Ovale, Hemianopsia and Marbled Skin 19
Divry-Van Bogaert Syndrome 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in second decade
death about 20 years after symptom onset


Classifications:



Summaries for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

MalaCards based summary: Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert, also known as corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin, is related to sneddon syndrome and facial dysmorphism, immunodeficiency, livedo, and short stature, and has symptoms including ataxia, seizures and pseudobulbar signs. Affiliated tissues include skin and brain, and related phenotypes are hypertension and emotional lability

More information from OMIM: 206570

Related Diseases for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Diseases related to Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 10.3
2 facial dysmorphism, immunodeficiency, livedo, and short stature 10.3

Symptoms & Phenotypes for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Human phenotypes related to Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 30 Occasional (7.5%) HP:0000822
2 emotional lability 30 HP:0000712
3 ataxia 30 HP:0001251
4 dysarthria 30 HP:0001260
5 ventriculomegaly 30 HP:0002119
6 migraine 30 HP:0002076
7 broad-based gait 30 HP:0002136
8 cutis marmorata 30 HP:0000965
9 hemianopia 30 HP:0012377
10 dementia 30 HP:0000726
11 visual field defect 30 HP:0001123
12 brain atrophy 30 HP:0012444
13 pseudobulbar signs 30 HP:0002200
14 seizure 30 HP:0001250
15 aplasia/hypoplasia involving the central nervous system 30 HP:0002977
16 telangiectases producing 'marbled' skin 30 HP:0007586

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
ataxia
dysarthria
migraine
broad-based gait
more
Skin Nails Hair Skin:
cutis marmorata
prominent venous pattern
marbled skin due to telangiectasia

Cardiovascular Vascular:
hypertension (reported in 1 patient)
leptomeningeal angiomatosis
distal tapering of the carotid, cerebellar, and meningeal arteries
prominent venous pattern

Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Head And Neck Eyes:
visual field defects
hemianopsia

Clinical features from OMIM®:

206570 (Updated 24-Oct-2022)

UMLS symptoms related to Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert:


ataxia; seizures; pseudobulbar signs

Drugs & Therapeutics for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Search Clinical Trials, NIH Clinical Center for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Genetic Tests for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Anatomical Context for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Organs/tissues related to Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert:

MalaCards : Skin, Brain

Publications for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Articles related to Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert:

# Title Authors PMID Year
1
Divry-Van Bogaert syndrome. Clinical and ultrastructural findings. 62 57
6721724 1984
2
Familial capillaro-venous leptomeningeal angiomatosis. 57
4698574 1973
3
A familial disease characterized by diffuse cortico-meningeal non-calcifying angiomatosis and progressive demyelination of the white substance. 57
20274395 1946
4
Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon's and Divry van Bogaert Syndrome. 62
35420351 2022
5
The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. 62
27084221 2016
6
The spectrum of differential diagnosis in neurological patients with livedo reticularis and livedo racemosa. A literature review. 62
16133722 2005
7
Intracerebral hemorrhage associated with Sneddon's syndrome: is ischemia-related angiogenesis the cause? Case report and review of the literature. 62
12750866 2003
8
Divry-Van Bogaert syndrome in a female: relationship to Sneddon's syndrome and radiographic appearances. 62
11512587 2001

Variations for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Expression for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Search GEO for disease gene expression data for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert.

Pathways for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

GO Terms for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

Sources for Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....