MCID: MCR317
MIFTS: 15

Macrophthalmia, Colobomatous, with Microcornea

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Macrophthalmia, Colobomatous, with Microcornea

MalaCards integrated aliases for Macrophthalmia, Colobomatous, with Microcornea:

Name: Macrophthalmia, Colobomatous, with Microcornea 57 73
Colobomatous Macrophthalmia-Microcornea Syndrome 59
Macom Syndrome 59
Macom 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
severity of reduced vision ranges from 20/50 to light perception only
coloboma involves optic nerve in most patients molecular basis contiguous gene syndrome caused by deletion of 22kb on 2p22.2 including the crim1 and fez2 genes


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 602499
Orphanet 59 ORPHA468672
MedGen 42 C1865286
UMLS 73 C1865286

Summaries for Macrophthalmia, Colobomatous, with Microcornea

MalaCards based summary : Macrophthalmia, Colobomatous, with Microcornea, is also known as colobomatous macrophthalmia-microcornea syndrome. An important gene associated with Macrophthalmia, Colobomatous, with Microcornea is MACOM (Macrophthalmia, Colobomatous, With Microcornea). Affiliated tissues include retina and eye.

Description from OMIM: 602499

Related Diseases for Macrophthalmia, Colobomatous, with Microcornea

Symptoms & Phenotypes for Macrophthalmia, Colobomatous, with Microcornea

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
myopia
reduced visual acuity
microcornea
more

Clinical features from OMIM:

602499

Drugs & Therapeutics for Macrophthalmia, Colobomatous, with Microcornea

Search Clinical Trials , NIH Clinical Center for Macrophthalmia, Colobomatous, with Microcornea

Genetic Tests for Macrophthalmia, Colobomatous, with Microcornea

Anatomical Context for Macrophthalmia, Colobomatous, with Microcornea

MalaCards organs/tissues related to Macrophthalmia, Colobomatous, with Microcornea:

41
Retina, Eye

Publications for Macrophthalmia, Colobomatous, with Microcornea

Variations for Macrophthalmia, Colobomatous, with Microcornea

Expression for Macrophthalmia, Colobomatous, with Microcornea

Search GEO for disease gene expression data for Macrophthalmia, Colobomatous, with Microcornea.

Pathways for Macrophthalmia, Colobomatous, with Microcornea

GO Terms for Macrophthalmia, Colobomatous, with Microcornea

Sources for Macrophthalmia, Colobomatous, with Microcornea

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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