CATM
MCID: MCR330
MIFTS: 18

Microphthalmia, Isolated, with Cataract 1 (CATM)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Microphthalmia, Isolated, with Cataract 1

MalaCards integrated aliases for Microphthalmia, Isolated, with Cataract 1:

Name: Microphthalmia, Isolated, with Cataract 1 58 74
Microphthalmia with Cataract 1 58 54 13
Cataract, Congenital, with Microphthalmia; Catm 58
Cataract, Congenital, with Microphthalmia 58
Cataract Congenital with Microphthalmia 77
Congenital Cataract with Microphthalmia 54
Mcopct1 58
Catm 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (16p13.3)


HPO:

33
microphthalmia, isolated, with cataract 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Microphthalmia, Isolated, with Cataract 1

MalaCards based summary : Microphthalmia, Isolated, with Cataract 1, also known as microphthalmia with cataract 1, is related to cataract and microphthalmia. An important gene associated with Microphthalmia, Isolated, with Cataract 1 is MCOPCT1 (Cataract, Congenital, With Microphthalmia). Affiliated tissues include eye, and related phenotypes are nystagmus and cataract

Wikipedia : 77 Congenital cataracts refers to a lens opacity present at birth. Congenital cataracts cover a broad... more...

Description from OMIM: 156850

Related Diseases for Microphthalmia, Isolated, with Cataract 1

Diseases related to Microphthalmia, Isolated, with Cataract 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 10.1
2 microphthalmia 10.1

Symptoms & Phenotypes for Microphthalmia, Isolated, with Cataract 1

Human phenotypes related to Microphthalmia, Isolated, with Cataract 1:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 cataract 33 HP:0000518
3 strabismus 33 HP:0000486
4 microphthalmia 33 HP:0000568
5 miosis 33 HP:0000616

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
cataract
strabismus
microphthalmia
miosis

Clinical features from OMIM:

156850

Drugs & Therapeutics for Microphthalmia, Isolated, with Cataract 1

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Cataract 1

Genetic Tests for Microphthalmia, Isolated, with Cataract 1

Anatomical Context for Microphthalmia, Isolated, with Cataract 1

MalaCards organs/tissues related to Microphthalmia, Isolated, with Cataract 1:

42
Eye

Publications for Microphthalmia, Isolated, with Cataract 1

Variations for Microphthalmia, Isolated, with Cataract 1

Expression for Microphthalmia, Isolated, with Cataract 1

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Cataract 1.

Pathways for Microphthalmia, Isolated, with Cataract 1

GO Terms for Microphthalmia, Isolated, with Cataract 1

Sources for Microphthalmia, Isolated, with Cataract 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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