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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
polycystic kidney, cataract, and congenital blindness:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 263100
MedGen 41 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

More information 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 polycystic kidney dysplasia 31 HP:0000113
3 retinal dystrophy 31 HP:0000556
4 congenital blindness 31 HP:0007875
5 microcoria 31 HP:0025492
6 hypoplasia of the retina 31 HP:0007770

Symptoms via clinical synopsis from OMIM:

56
Eyes:
blindness
retinal dystrophy
microcoria
retinal aplasia
retinal hypoplasia
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:

40
Kidney, Retina

Publications for Polycystic Kidney, Cataract, and Congenital Blindness

Articles related to Polycystic Kidney, Cataract, and Congenital Blindness:

# Title Authors PMID Year
1
Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney. 56
20789756 1963

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
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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