MCID: OCL031
MIFTS: 13

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 53
Behrens-Baumann-Vogel Syndrome 53 59
Behrens Baumann Dust Syndrome 53 73
Unilateral Aplasia of the Optic Nerve with Cryptophthalmus and Contralateral Microphthalmus 53
Microphthalmia-Optic Nerve Aplasia Syndrome 59
Microphthalmia-Optic Nerve Dysplasia 53
Oculocerebral Dysplasia 59

Classifications:



External Ids:

Orphanet 59 ORPHA2705
UMLS via Orphanet 74 C2931582
ICD10 via Orphanet 34 Q11.2
SNOMED-CT via HPO 69 400951005 14447001
UMLS 73 C2931582

Summaries for Oculo-Cerebral Dysplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Oculo-Cerebral Dysplasia, is also known as behrens-baumann-vogel syndrome. Related phenotypes are cryptophthalmos and dandy-walker malformation

Related Diseases for Oculo-Cerebral Dysplasia

Symptoms & Phenotypes for Oculo-Cerebral Dysplasia

Human phenotypes related to Oculo-Cerebral Dysplasia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptophthalmos 59 32 occasional (7.5%) Occasional (29-5%) HP:0001126
2 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
3 bilateral microphthalmos 59 32 hallmark (90%) Very frequent (99-80%) HP:0007633
4 optic nerve aplasia 59 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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