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 70
Colobomatous Macrophthalmia-Microcornea Syndrome 58
Macom Syndrome 58
Macom 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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


HPO:

31
macrophthalmia, colobomatous, with microcornea:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 602499
Orphanet 58 ORPHA468672
MedGen 41 C1865286
UMLS 70 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 eye and retina, and related phenotypes are ocular hypertension and nystagmus

More information from OMIM: 602499

Related Diseases for Macrophthalmia, Colobomatous, with Microcornea

Symptoms & Phenotypes for Macrophthalmia, Colobomatous, with Microcornea

Human phenotypes related to Macrophthalmia, Colobomatous, with Microcornea:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 ocular hypertension 31 very rare (1%) HP:0007906
2 nystagmus 31 HP:0000639
3 strabismus 31 HP:0000486
4 myopia 31 HP:0000545
5 reduced visual acuity 31 HP:0007663
6 microcornea 31 HP:0000482
7 coloboma 31 HP:0000589
8 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
strabismus
myopia
reduced visual acuity
microcornea
more

Clinical features from OMIM®:

602499 (Updated 20-May-2021)

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:

40
Eye, Retina

Publications for Macrophthalmia, Colobomatous, with Microcornea

Articles related to Macrophthalmia, Colobomatous, with Microcornea:

(showing 7, show less)
# Title Authors PMID Year
1
CRIM1 haploinsufficiency causes defects in eye development in human and mouse. 61 57
25561690 2015
2
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region. 57 61
17506091 2007
3
Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree. 57
12900897 2003
4
Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family. 57
9508245 1998
5
Colobomatous macrophthalmia with microcornea. 57
6545385 1984
6
Altered Expression of the m6A Methyltransferase METTL3 in Alzheimer's Disease. 61
32847866 2020
7
A GaN HEMT Amplifier Design for Phased Array Radars and 5G New Radios. 61
32290236 2020

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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