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 57
Familial Congenital Cornea Guttata with Anterior Polar Cataracts 53
Cornea Guttata with Anterior Polar Cataract 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cornea guttata with anterior polar cataracts:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 121390
MedGen 42 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. 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 11.5

Symptoms & Phenotypes for Cornea Guttata with Anterior Polar Cataracts

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
anterior polar cataract
corneal endothelial dystrophy (guttata)
impaired vision (in some patients)


Clinical features from OMIM:

121390

Human phenotypes related to Cornea Guttata with Anterior Polar Cataracts:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 anterior polar cataract 32 HP:0001134

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:

41
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 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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