Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 08-Dec-2022)

Miscellaneous:
onset in second decade
death about 20 years after symptom onset

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

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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 has symptoms including ataxia, pseudobulbar signs and seizures. Affiliated tissues include skin and brain, and related phenotypes are hypertension and seizure

More information from OMIM: 206570

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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:

(showing 1, show less)

#	Related Disease	Score	Top Affiliating Genes
1	sneddon syndrome	10.3

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

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

³⁰ (showing 16, show less)

#	Description	HPO Frequency	HPO Source Accession
1	hypertension ³⁰	Occasional (7.5%)	HP:0000822
2	seizure ³⁰		HP:0001250
3	emotional lability ³⁰		HP:0000712
4	ataxia ³⁰		HP:0001251
5	dysarthria ³⁰		HP:0001260
6	ventriculomegaly ³⁰		HP:0002119
7	migraine ³⁰		HP:0002076
8	broad-based gait ³⁰		HP:0002136
9	cutis marmorata ³⁰		HP:0000965
10	hemianopia ³⁰		HP:0012377
11	dementia ³⁰		HP:0000726
12	visual field defect ³⁰		HP:0001123
13	brain atrophy ³⁰		HP:0012444
14	pseudobulbar signs ³⁰		HP:0002200
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 08-Dec-2022)

Neurologic Behavioral Psychiatric Manifestations:
emotional lability

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 Central Nervous System:
ataxia
dysarthria
migraine
broad-based gait
brain atrophy
more

Head And Neck Eyes:
visual field defects
hemianopsia

Clinical features from OMIM®:

206570 (Updated 08-Dec-2022)

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

ataxia; pseudobulbar signs; seizures

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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

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

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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

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

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

(showing 8, show less)

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

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

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

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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.

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

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

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

¹ BitterDB

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²¹ GeneCards

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²³ GeneHancer via GeneCards

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³¹ ICD10

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³⁶ LifeMap

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubChem

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ANG030 MIFTS: 19	Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert Categories: Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert

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

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

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

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:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

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

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

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

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

Expression 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

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