MCID: RTN176
MIFTS: 24

Retinitis Pigmentosa 71

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 71

MalaCards integrated aliases for Retinitis Pigmentosa 71:

Name: Retinitis Pigmentosa 71 53 12 71 28 14
Rp71 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 71:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 71

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 71: 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 71, is also known as rp71, and has symptoms including obesity, delayed speech and language development and elevated hepatic transaminases. An important gene associated with Retinitis Pigmentosa 71 is IFT172 (Intraflagellar Transport 172). Affiliated tissues include bone, eye and retina, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the IFT172 gene on chromosome 2p23.

Description from OMIM: 616394

Related Diseases for Retinitis Pigmentosa 71

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

Symptoms & Phenotypes for Retinitis Pigmentosa 71

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
optic disc pallor
attenuation of retinal blood vessels
atrophy of retinal pigment epithelium
night blindness in first or second decade of life
bone spicule pigmentation in retinal periphery
more
Abdomen Liver:
elevated transaminases (in two sisters)

Skeletal Spine:
mild scoliosis (rare)

Neurologic Central Nervous System:
delayed speech development (in two sisters)

Growth Weight:
obesity (in two sisters)

Abdomen Pancreas:
pancreatitis (in one sister)

Skeletal Hands:
cutaneous polydactyly, postaxial (in one sister)


Clinical features from OMIM:

616394

Human phenotypes related to Retinitis Pigmentosa 71:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 delayed speech and language development 31 HP:0000750
3 elevated hepatic transaminases 31 HP:0002910
4 pancreatitis 31 HP:0001733
5 rod-cone dystrophy 31 HP:0000510
6 optic disc pallor 31 HP:0000543
7 attenuation of retinal blood vessels 31 HP:0007843

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 71 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.23 ALKBH5 IFT172
2 Decreased homologous recombination repair frequency GR00236-A-2 9.23 ALKBH5 IFT172

Drugs & Therapeutics for Retinitis Pigmentosa 71

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 71

Genetic Tests for Retinitis Pigmentosa 71

Genetic tests related to Retinitis Pigmentosa 71:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 71 28 IFT172

Anatomical Context for Retinitis Pigmentosa 71

MalaCards organs/tissues related to Retinitis Pigmentosa 71:

38
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 71

Variations for Retinitis Pigmentosa 71

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 71:

71
# Symbol AA change Variation ID SNP ID
1 IFT172 p.Leu257Pro VAR_073800 rs786205857
2 IFT172 p.His1567Gln VAR_073801 rs786205855
3 IFT172 p.Asp1605Glu VAR_073802 rs786205856

ClinVar genetic disease variations for Retinitis Pigmentosa 71:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT172 NM_015662.2(IFT172): c.4701C> A (p.His1567Gln) single nucleotide variant Pathogenic rs786205855 GRCh38 Chromosome 2, 27446314: 27446314
2 IFT172 NM_015662.2(IFT172): c.1525-1G> A single nucleotide variant Pathogenic rs370540673 GRCh37 Chromosome 2, 27693963: 27693963
3 IFT172 NM_015662.2(IFT172): c.4815T> G (p.Asp1605Glu) single nucleotide variant Pathogenic rs786205856 GRCh38 Chromosome 2, 27445929: 27445929
4 IFT172 NM_015662.2(IFT172): c.770T> C (p.Leu257Pro) single nucleotide variant Pathogenic rs786205857 GRCh38 Chromosome 2, 27481061: 27481061
5 IFT172 NM_015662.2(IFT172): c.3112-5T> A single nucleotide variant Pathogenic rs786205858 GRCh38 Chromosome 2, 27457760: 27457760

Expression for Retinitis Pigmentosa 71

Search GEO for disease gene expression data for Retinitis Pigmentosa 71.

Pathways for Retinitis Pigmentosa 71

GO Terms for Retinitis Pigmentosa 71

Sources for Retinitis Pigmentosa 71

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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