MCID: DFN145
MIFTS: 11

Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities

Categories: Ear diseases, Reproductive diseases

Aliases & Classifications for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

MalaCards integrated aliases for Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:

Name: Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 56 13

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
deafness, cataract, retinitis pigmentosa, and sperm abnormalities:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

MalaCards based summary : Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities An important gene associated with Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities is DFCTRPS (Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities). Affiliated tissues include skin, and related phenotypes are hearing impairment and cataract

More information from OMIM: 300719

Related Diseases for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Symptoms & Phenotypes for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Human phenotypes related to Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 cataract 31 HP:0000518
3 abnormality of skin pigmentation 31 HP:0001000
4 infertility 31 HP:0000789
5 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
infertility
misshapen sperm with decreased motility

Head And Neck Eyes:
cataract, posterior subcapsular
pigmentary changes consistent with retinitis pigmentosa

Head And Neck Ears:
deafness, bilateral with postpubertal onset and rapid progression to profound deafness within 5 to 6 years

Clinical features from OMIM:

300719

Drugs & Therapeutics for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Search Clinical Trials , NIH Clinical Center for Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities

Genetic Tests for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Anatomical Context for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

MalaCards organs/tissues related to Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:

40
Skin

Publications for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Articles related to Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities:

# Title Authors PMID Year
1
Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance? 56
17431906 2007

Variations for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Expression for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Search GEO for disease gene expression data for Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities.

Pathways for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

GO Terms for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

Sources for Deafness, Cataract, Retinitis Pigmentosa, and Sperm...

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
Content
Loading form....