MCID: CRN283
MIFTS: 14

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 58
Familial Congenital Cornea Guttata with Anterior Polar Cataracts 54
Cornea Guttata with Anterior Polar Cataract 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cornea guttata with anterior polar cataracts:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 121390
MedGen 43 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

Description 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 11.6
2 cataract 10.5

Symptoms & Phenotypes for Cornea Guttata with Anterior Polar Cataracts

Human phenotypes related to Cornea Guttata with Anterior Polar Cataracts:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 anterior polar cataract 33 HP:0001134

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Cornea Guttata with Anterior Polar Cataracts

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

42
Endothelial

Publications for Cornea Guttata with Anterior Polar Cataracts

Articles related to Cornea Guttata with Anterior Polar Cataracts:

# Title Authors Year
1
Familial congenital cornea guttata with anterior polar cataracts. ( 2301548 )
1990
2
Familial congenital cornea guttata with anterior polar cataracts. ( 2757092 )
1989

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
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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