MCID: OCL031
MIFTS: 12

Oculo-Cerebral Dysplasia

Categories: Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Oculo-Cerebral Dysplasia

MalaCards integrated aliases for Oculo-Cerebral Dysplasia:

Name: Oculo-Cerebral Dysplasia 50
Behrens-Baumann-Vogel Syndrome 50 56
Behrens Baumann Dust Syndrome 50 69
Unilateral Aplasia of the Optic Nerve with Cryptophthalmus and Contralateral Microphthalmus 50
Microphthalmia-Optic Nerve Aplasia Syndrome 56
Microphthalmia-Optic Nerve Dysplasia 50
Oculocerebral Dysplasia 56

Classifications:



External Ids:

Orphanet 56 ORPHA2705
UMLS via Orphanet 70 C2931582
ICD10 via Orphanet 34 Q11.2
SNOMED-CT via HPO 65 400951005 14447001

Summaries for Oculo-Cerebral Dysplasia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2705disease definitionoculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. two cases have been reported, a girl and her brother. a dandy-walker cyst was also present in one case. transmission appears to be autosomal recessive.visit the orphanet disease page for more resources. last updated: 9/11/2006

MalaCards based summary : Oculo-Cerebral Dysplasia, is also known as behrens-baumann-vogel syndrome, and has symptoms including cryptophthalmos, dandy-walker malformation and bilateral microphthalmos.

Related Diseases for Oculo-Cerebral Dysplasia

Symptoms & Phenotypes for Oculo-Cerebral Dysplasia

Human phenotypes related to Oculo-Cerebral Dysplasia:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptophthalmos 56 32 occasional (7.5%) Occasional (29-5%) HP:0001126
2 dandy-walker malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001305
3 bilateral microphthalmos 56 32 hallmark (90%) Very frequent (99-80%) HP:0007633
4 optic nerve aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0012521

Drugs & Therapeutics for Oculo-Cerebral Dysplasia

Search Clinical Trials , NIH Clinical Center for Oculo-Cerebral Dysplasia

Genetic Tests for Oculo-Cerebral Dysplasia

Anatomical Context for Oculo-Cerebral Dysplasia

Publications for Oculo-Cerebral Dysplasia

Variations for Oculo-Cerebral Dysplasia

Expression for Oculo-Cerebral Dysplasia

Search GEO for disease gene expression data for Oculo-Cerebral Dysplasia.

Pathways for Oculo-Cerebral Dysplasia

GO Terms for Oculo-Cerebral Dysplasia

Sources for Oculo-Cerebral Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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