MACOM
MCID: MCR317
MIFTS: 18

Macrophthalmia, Colobomatous, with Microcornea (MACOM)

Categories: Eye diseases, Fetal 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:



Summaries for Macrophthalmia, Colobomatous, with Microcornea

MalaCards based summary : Macrophthalmia, Colobomatous, with Microcornea, also known as colobomatous macrophthalmia-microcornea syndrome, is related to perrault syndrome 1. An important gene associated with Macrophthalmia, Colobomatous, with Microcornea is MACOM (Macrophthalmia, Colobomatous, With Microcornea). Affiliated tissues include eye and retina, and related phenotypes are nystagmus and strabismus

Description from OMIM: 602499

Related Diseases for Macrophthalmia, Colobomatous, with Microcornea

Diseases related to Macrophthalmia, Colobomatous, with Microcornea via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

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

Human phenotypes related to Macrophthalmia, Colobomatous, with Microcornea:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 strabismus 32 HP:0000486
3 myopia 32 HP:0000545
4 reduced visual acuity 32 HP:0007663
5 microcornea 32 HP:0000482
6 coloboma 32 HP:0000589
7 increased intraocular pressure 32 very rare (1%) HP:0007906
8 macular atrophy 32 HP:0007401

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
Eye, Retina

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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