MCID: DFN145
MIFTS: 12

Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities

Categories: Reproductive diseases, Ear 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 57 13

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
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 rod-cone dystrophy

Description from OMIM: 300719

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, bilateral with postpubertal onset and rapid progression to profound deafness within 5 to 6 years

GenitourinaryInternal GenitaliaMale:
infertility
misshapen sperm with decreased motility

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


Clinical features from OMIM:

300719

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

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 rod-cone dystrophy 32 HP:0000510
3 cataract 32 HP:0000518
4 infertility 32 HP:0000789
5 abnormality of skin pigmentation 32 HP:0001000

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:

41
Skin

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

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 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
Content
Loading form....