MCID: MCR330
MIFTS: 18

Microphthalmia, Isolated, with Cataract 1

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Microphthalmia, Isolated, with Cataract 1

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

Name: Microphthalmia, Isolated, with Cataract 1 57 73
Microphthalmia with Cataract 1 57 53 13
Cataract, Congenital, with Microphthalmia; Catm 57
Cataract, Congenital, with Microphthalmia 57
Cataract Congenital with Microphthalmia 76
Congenital Cataract with Microphthalmia 53
Mcopct1 57
Catm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (16p13.3)


HPO:

32
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 strabismus and cataract

Wikipedia : 76 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 9.9
2 microphthalmia 9.9

Symptoms & Phenotypes for Microphthalmia, Isolated, with Cataract 1

Symptoms via clinical synopsis from OMIM:

57
Eyes:
cataract
microphthalmia
nystagmus
miosis
strabismus


Clinical features from OMIM:

156850

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

32
# Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 cataract 32 HP:0000518
3 microphthalmia 32 HP:0000568
4 miosis 32 HP:0000616
5 nystagmus 32 HP:0000639

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:

41
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 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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