MCID: RTN176
MIFTS: 25

Retinitis Pigmentosa 71

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 71

MalaCards integrated aliases for Retinitis Pigmentosa 71:

Name: Retinitis Pigmentosa 71 57 12 75 29 6 15
Rp71 57 12 75
Retinitis Pigmentosa, Type 71 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa 71:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 71

UniProtKB/Swiss-Prot : 75 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, also known as rp71, is related to short-rib thoracic dysplasia 10 with or without polydactyly. An important gene associated with Retinitis Pigmentosa 71 is IFT172 (Intraflagellar Transport 172). Affiliated tissues include retina, bone and eye, and related phenotypes are rod-cone dystrophy and optic disc pallor

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

Diseases related to Retinitis Pigmentosa 71 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 10 with or without polydactyly 8.9 IFT172 KRTCAP3

Symptoms & Phenotypes for Retinitis Pigmentosa 71

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 optic disc pallor 32 HP:0000543
3 delayed speech and language development 32 HP:0000750
4 obesity 32 HP:0001513
5 pancreatitis 32 HP:0001733
6 elevated hepatic transaminases 32 HP:0002910
7 attenuation of retinal blood vessels 32 HP:0007843

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

26
# 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 29 IFT172

Anatomical Context for Retinitis Pigmentosa 71

MalaCards organs/tissues related to Retinitis Pigmentosa 71:

41
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 71

Variations for Retinitis Pigmentosa 71

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

75
# 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
(show all 38)
# 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.4701C> A (p.His1567Gln) single nucleotide variant Pathogenic rs786205855 GRCh37 Chromosome 2, 27669181: 27669181
3 IFT172 NM_015662.2(IFT172): c.1525-1G> A single nucleotide variant Pathogenic rs370540673 GRCh37 Chromosome 2, 27693963: 27693963
4 IFT172 NM_015662.2(IFT172): c.1525-1G> A single nucleotide variant Pathogenic rs370540673 GRCh38 Chromosome 2, 27471096: 27471096
5 IFT172 NM_015662.2(IFT172): c.4815T> G (p.Asp1605Glu) single nucleotide variant Pathogenic rs786205856 GRCh38 Chromosome 2, 27445929: 27445929
6 IFT172 NM_015662.2(IFT172): c.4815T> G (p.Asp1605Glu) single nucleotide variant Pathogenic rs786205856 GRCh37 Chromosome 2, 27668796: 27668796
7 IFT172 NM_015662.2(IFT172): c.770T> C (p.Leu257Pro) single nucleotide variant Pathogenic rs786205857 GRCh38 Chromosome 2, 27481061: 27481061
8 IFT172 NM_015662.2(IFT172): c.770T> C (p.Leu257Pro) single nucleotide variant Pathogenic rs786205857 GRCh37 Chromosome 2, 27703928: 27703928
9 IFT172 NM_015662.2(IFT172): c.3112-5T> A single nucleotide variant Pathogenic rs786205858 GRCh38 Chromosome 2, 27457760: 27457760
10 IFT172 NM_015662.2(IFT172): c.3112-5T> A single nucleotide variant Pathogenic rs786205858 GRCh37 Chromosome 2, 27680627: 27680627
11 IFT172 NM_015662.2(IFT172): c.3401G> T (p.Arg1134Leu) single nucleotide variant Benign/Likely benign rs148624326 GRCh37 Chromosome 2, 27677498: 27677498
12 IFT172 NM_015662.2(IFT172): c.3401G> T (p.Arg1134Leu) single nucleotide variant Benign/Likely benign rs148624326 GRCh38 Chromosome 2, 27454631: 27454631
13 IFT172 NM_015662.2(IFT172): c.4540-6C> T single nucleotide variant Benign/Likely benign rs146140583 GRCh37 Chromosome 2, 27670507: 27670507
14 IFT172 NM_015662.2(IFT172): c.4540-6C> T single nucleotide variant Benign/Likely benign rs146140583 GRCh38 Chromosome 2, 27447640: 27447640
15 IFT172 NM_015662.2(IFT172): c.2723G> A (p.Arg908Gln) single nucleotide variant Benign rs61747073 GRCh37 Chromosome 2, 27682309: 27682309
16 IFT172 NM_015662.2(IFT172): c.2723G> A (p.Arg908Gln) single nucleotide variant Benign rs61747073 GRCh38 Chromosome 2, 27459442: 27459442
17 IFT172 NM_015662.2(IFT172): c.4745T> C (p.Ile1582Thr) single nucleotide variant Benign rs61742074 GRCh38 Chromosome 2, 27446270: 27446270
18 IFT172 NM_015662.2(IFT172): c.4745T> C (p.Ile1582Thr) single nucleotide variant Benign rs61742074 GRCh37 Chromosome 2, 27669137: 27669137
19 IFT172 NM_015662.2(IFT172): c.3357C> T (p.His1119=) single nucleotide variant Benign/Likely benign rs76787560 GRCh37 Chromosome 2, 27679392: 27679392
20 IFT172 NM_015662.2(IFT172): c.3357C> T (p.His1119=) single nucleotide variant Benign/Likely benign rs76787560 GRCh38 Chromosome 2, 27456525: 27456525
21 IFT172 NM_015662.2(IFT172): c.2858G> A (p.Arg953His) single nucleotide variant Benign/Likely benign rs704793 GRCh37 Chromosome 2, 27681665: 27681665
22 IFT172 NM_015662.2(IFT172): c.2858G> A (p.Arg953His) single nucleotide variant Benign/Likely benign rs704793 GRCh38 Chromosome 2, 27458798: 27458798
23 IFT172 NM_015662.2(IFT172): c.1426G> A (p.Gly476Ser) single nucleotide variant Uncertain significance rs147303046 GRCh38 Chromosome 2, 27472348: 27472348
24 IFT172 NM_015662.2(IFT172): c.1426G> A (p.Gly476Ser) single nucleotide variant Uncertain significance rs147303046 GRCh37 Chromosome 2, 27695215: 27695215
25 IFT172 NM_015662.2(IFT172): c.2204C> A (p.Ala735Asp) single nucleotide variant Uncertain significance rs773174861 GRCh38 Chromosome 2, 27461507: 27461507
26 IFT172 NM_015662.2(IFT172): c.2204C> A (p.Ala735Asp) single nucleotide variant Uncertain significance rs773174861 GRCh37 Chromosome 2, 27684374: 27684374
27 IFT172 NM_015662.2(IFT172): c.1338T> C (p.Asn446=) single nucleotide variant Benign rs61743327 GRCh38 Chromosome 2, 27476714: 27476714
28 IFT172 NM_015662.2(IFT172): c.1338T> C (p.Asn446=) single nucleotide variant Benign rs61743327 GRCh37 Chromosome 2, 27699581: 27699581
29 IFT172 NM_015662.2(IFT172): c.2770T> G (p.Ser924Ala) single nucleotide variant Uncertain significance rs142409945 GRCh38 Chromosome 2, 27459395: 27459395
30 IFT172 NM_015662.2(IFT172): c.2770T> G (p.Ser924Ala) single nucleotide variant Uncertain significance rs142409945 GRCh37 Chromosome 2, 27682262: 27682262
31 IFT172 NM_015662.2(IFT172): c.1685C> G (p.Thr562Ser) single nucleotide variant Benign rs61743977 GRCh37 Chromosome 2, 27693802: 27693802
32 IFT172 NM_015662.2(IFT172): c.1685C> G (p.Thr562Ser) single nucleotide variant Benign rs61743977 GRCh38 Chromosome 2, 27470935: 27470935
33 IFT172 NM_015662.2(IFT172): c.4272G> A (p.Gln1424=) single nucleotide variant Benign rs147850047 GRCh37 Chromosome 2, 27672200: 27672200
34 IFT172 NM_015662.2(IFT172): c.4272G> A (p.Gln1424=) single nucleotide variant Benign rs147850047 GRCh38 Chromosome 2, 27449333: 27449333
35 IFT172 NM_015662.2(IFT172): c.4990C> T (p.Arg1664Trp) single nucleotide variant Benign rs139348179 GRCh37 Chromosome 2, 27668241: 27668241
36 IFT172 NM_015662.2(IFT172): c.4990C> T (p.Arg1664Trp) single nucleotide variant Benign rs139348179 GRCh38 Chromosome 2, 27445374: 27445374
37 IFT172 NM_015662.2(IFT172): c.4147G> A (p.Glu1383Lys) single nucleotide variant Uncertain significance rs147668131 GRCh37 Chromosome 2, 27672571: 27672571
38 IFT172 NM_015662.2(IFT172): c.4147G> A (p.Glu1383Lys) single nucleotide variant Uncertain significance rs147668131 GRCh38 Chromosome 2, 27449704: 27449704

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

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71 TGDB
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74 UMLS via Orphanet
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