MCID: PLY155
MIFTS: 10

Polycystic Kidney, Cataract, and Congenital Blindness

Aliases & Classifications for Polycystic Kidney, Cataract, and Congenital Blindness

MalaCards integrated aliases for Polycystic Kidney, Cataract, and Congenital Blindness:

Name: Polycystic Kidney, Cataract, and Congenital Blindness 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
polycystic kidney, cataract, and congenital blindness:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 263100
MedGen 43 C1849771

Summaries for Polycystic Kidney, Cataract, and Congenital Blindness

MalaCards based summary : Polycystic Kidney, Cataract, and Congenital Blindness Affiliated tissues include kidney and retina, and related phenotypes are cataract and polycystic kidney dysplasia

Description from OMIM: 263100

Related Diseases for Polycystic Kidney, Cataract, and Congenital Blindness

Symptoms & Phenotypes for Polycystic Kidney, Cataract, and Congenital Blindness

Human phenotypes related to Polycystic Kidney, Cataract, and Congenital Blindness:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 polycystic kidney dysplasia 33 HP:0000113
3 retinal dystrophy 33 HP:0000556
4 congenital blindness 33 HP:0007875
5 microcoria 33 HP:0025492
6 hypoplasia of the retina 33 HP:0007770

Symptoms via clinical synopsis from OMIM:

58
Eyes:
blindness
retinal dystrophy
retinal aplasia
retinal hypoplasia
central cataract
more
G U:
polycystic kidney
atrophic kidneys
renal pyramidal cysts

Clinical features from OMIM:

263100

Drugs & Therapeutics for Polycystic Kidney, Cataract, and Congenital Blindness

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney, Cataract, and Congenital Blindness

Genetic Tests for Polycystic Kidney, Cataract, and Congenital Blindness

Anatomical Context for Polycystic Kidney, Cataract, and Congenital Blindness

MalaCards organs/tissues related to Polycystic Kidney, Cataract, and Congenital Blindness:

42
Kidney, Retina

Publications for Polycystic Kidney, Cataract, and Congenital Blindness

Variations for Polycystic Kidney, Cataract, and Congenital Blindness

Expression for Polycystic Kidney, Cataract, and Congenital Blindness

Search GEO for disease gene expression data for Polycystic Kidney, Cataract, and Congenital Blindness.

Pathways for Polycystic Kidney, Cataract, and Congenital Blindness

GO Terms for Polycystic Kidney, Cataract, and Congenital Blindness

Sources for Polycystic Kidney, Cataract, and Congenital Blindness

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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