MCID: RTN178
MIFTS: 24

Retinitis Pigmentosa 72

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 72

MalaCards integrated aliases for Retinitis Pigmentosa 72:

Name: Retinitis Pigmentosa 72 53 12 71 28 14
Rp72 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset of symptoms, from second to fifth decade of life


HPO:

31
retinitis pigmentosa 72:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 72

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 72: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 72, also known as rp72, is related to retinitis pigmentosa 50 and retinitis pigmentosa 26, and has symptoms including photophobia, reduced visual acuity and nyctalopia. An important gene associated with Retinitis Pigmentosa 72 is ZNF408 (Zinc Finger Protein 408). Affiliated tissues include bone and eye.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ZNF408 gene on chromosome 11p11.

Description from OMIM: 616469

Related Diseases for Retinitis Pigmentosa 72

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 72 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 50 9.5 CD7 RPGR
2 retinitis pigmentosa 26 9.4 CD7 RPGR

Symptoms & Phenotypes for Retinitis Pigmentosa 72

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
photophobia
posterior subcapsular cataract
decreased visual acuity
night blindness
constricted visual fields
more

Clinical features from OMIM:

616469

Human phenotypes related to Retinitis Pigmentosa 72:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 reduced visual acuity 31 HP:0007663
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 optic disc pallor 31 HP:0000543
6 posterior subcapsular cataract 31 HP:0007787
7 constriction of peripheral visual field 31 HP:0001133

Drugs & Therapeutics for Retinitis Pigmentosa 72

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 72

Genetic Tests for Retinitis Pigmentosa 72

Genetic tests related to Retinitis Pigmentosa 72:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 72 28 ZNF408

Anatomical Context for Retinitis Pigmentosa 72

MalaCards organs/tissues related to Retinitis Pigmentosa 72:

38
Bone, Eye

Publications for Retinitis Pigmentosa 72

Variations for Retinitis Pigmentosa 72

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 72:

71
# Symbol AA change Variation ID SNP ID
1 ZNF408 p.Arg541Cys VAR_074615 rs781192528

ClinVar genetic disease variations for Retinitis Pigmentosa 72:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF408 NM_024741.2(ZNF408): c.363_364delTG (p.Ala122Leufs) deletion Pathogenic rs875989821 GRCh38 Chromosome 11, 46702736: 46702737
2 ZNF408 NM_024741.2(ZNF408): c.1621C> T (p.Arg541Cys) single nucleotide variant Pathogenic rs781192528 GRCh38 Chromosome 11, 46705321: 46705321

Expression for Retinitis Pigmentosa 72

Search GEO for disease gene expression data for Retinitis Pigmentosa 72.

Pathways for Retinitis Pigmentosa 72

GO Terms for Retinitis Pigmentosa 72

Sources for Retinitis Pigmentosa 72

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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