MCID: CRN283
MIFTS: 15

Cornea Guttata with Anterior Polar Cataracts

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cornea Guttata with Anterior Polar Cataracts

MalaCards integrated aliases for Cornea Guttata with Anterior Polar Cataracts:

Name: Cornea Guttata with Anterior Polar Cataracts 56 29
Familial Congenital Cornea Guttata with Anterior Polar Cataracts 52
Cornea Guttata with Anterior Polar Cataract 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cornea guttata with anterior polar cataracts:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 121390
MedGen 41 C1852558

Summaries for Cornea Guttata with Anterior Polar Cataracts

MalaCards based summary : Cornea Guttata with Anterior Polar Cataracts, also known as familial congenital cornea guttata with anterior polar cataracts, is related to edict syndrome and cataract. Affiliated tissues include endothelial, and related phenotypes are visual impairment and anterior polar cataract

More information from OMIM: 121390

Related Diseases for Cornea Guttata with Anterior Polar Cataracts

Diseases related to Cornea Guttata with Anterior Polar Cataracts via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 edict syndrome 11.7
2 cataract 10.5
3 corneal edema 10.3

Symptoms & Phenotypes for Cornea Guttata with Anterior Polar Cataracts

Human phenotypes related to Cornea Guttata with Anterior Polar Cataracts:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 anterior polar cataract 31 HP:0001134

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
anterior polar cataract
corneal endothelial dystrophy (guttata)
impaired vision (in some patients)

Clinical features from OMIM:

121390

Drugs & Therapeutics for Cornea Guttata with Anterior Polar Cataracts

Search Clinical Trials , NIH Clinical Center for Cornea Guttata with Anterior Polar Cataracts

Genetic Tests for Cornea Guttata with Anterior Polar Cataracts

Genetic tests related to Cornea Guttata with Anterior Polar Cataracts:

# Genetic test Affiliating Genes
1 Cornea Guttata with Anterior Polar Cataracts 29

Anatomical Context for Cornea Guttata with Anterior Polar Cataracts

MalaCards organs/tissues related to Cornea Guttata with Anterior Polar Cataracts:

40
Endothelial

Publications for Cornea Guttata with Anterior Polar Cataracts

Articles related to Cornea Guttata with Anterior Polar Cataracts:

# Title Authors PMID Year
1
Familial congenital cornea guttata with anterior polar cataracts. 56 61
2757092 1989
2
Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract. 56
27484837 2016
3
Familial congenital cornea guttata with anterior polar cataracts. 61
2301548 1990

Variations for Cornea Guttata with Anterior Polar Cataracts

Expression for Cornea Guttata with Anterior Polar Cataracts

Search GEO for disease gene expression data for Cornea Guttata with Anterior Polar Cataracts.

Pathways for Cornea Guttata with Anterior Polar Cataracts

GO Terms for Cornea Guttata with Anterior Polar Cataracts

Sources for Cornea Guttata with Anterior Polar Cataracts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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