RP71
MCID: RTN176
MIFTS: 33

Retinitis Pigmentosa 71 (RP71)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 71

MalaCards integrated aliases for Retinitis Pigmentosa 71:

Name: Retinitis Pigmentosa 71 56 12 73 29 6 15
Rp71 56 12 73
Retinitis Pigmentosa, Type 71 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 71:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 71

UniProtKB/Swiss-Prot : 73 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 and retinitis pigmentosa 69. An important gene associated with Retinitis Pigmentosa 71 is IFT172 (Intraflagellar Transport 172). Affiliated tissues include retina, eye and bone, and related phenotypes are delayed speech and language development and blindness

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

More information from OMIM: 616394 PS268000

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Nonsyndromic Retinitis Pigmentosa

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 10 with or without polydactyly 10.2 KRTCAP3 IFT172
2 retinitis pigmentosa 69 10.0 POMGNT1 ARHGEF18
3 retinitis pigmentosa 72 10.0 POMGNT1 ARHGEF18
4 retinitis pigmentosa 74 10.0 PCARE ARHGEF18
5 retinitis pigmentosa 63 10.0 ZNF513 PCARE
6 retinitis pigmentosa 67 10.0 PCARE ARHGEF18
7 retinitis pigmentosa 73 9.9 POMGNT1 ARHGEF18
8 retinitis pigmentosa 70 9.9 POMGNT1 ARHGEF18
9 retinitis pigmentosa 54 9.9 ZNF513 PCARE
10 retinitis pigmentosa 28 9.8 ZNF513 PCARE
11 retinitis pigmentosa 58 9.8 ZNF513 ARHGEF18
12 leber plus disease 9.3 ZNF513 PCARE IFT172
13 fundus dystrophy 9.3 ZNF513 PCARE IFT172 ARHGEF18
14 retinitis pigmentosa 8.9 ZNF513 POMGNT1 PCARE KRTCAP3 IFT172 ARHGEF18

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 71:



Diseases related to Retinitis Pigmentosa 71

Symptoms & Phenotypes for Retinitis Pigmentosa 71

Human phenotypes related to Retinitis Pigmentosa 71:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 blindness 31 HP:0000618
3 edema 31 HP:0000969
4 obesity 31 HP:0001513
5 elevated hepatic transaminase 31 HP:0002910
6 rod-cone dystrophy 31 HP:0000510
7 optic disc pallor 31 HP:0000543
8 pancreatitis 31 HP:0001733
9 attenuation of retinal blood vessels 31 HP:0007843
10 drusen 31 HP:0011510

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 71

Articles related to Retinitis Pigmentosa 71:

# Title Authors PMID Year
1
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. 6 56
25168386 2015
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Retinitis Pigmentosa 71

ClinVar genetic disease variations for Retinitis Pigmentosa 71:

6 (show top 50) (show all 109) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT172 NC_000002.12:g.(?_27462701)_(27463181_?)deldeletion Pathogenic 831594 2:27685568-27686048
2 IFT172 NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)duplication Pathogenic 446697 rs750338419 2:27682266-27682267 2:27459399-27459400
3 IFT172 NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)SNV Pathogenic 579128 rs1250676888 2:27702991-27702991 2:27480124-27480124
4 IFT172 NM_015662.3(IFT172):c.3112-5T>ASNV Pathogenic 191370 rs786205858 2:27680627-27680627 2:27457760-27457760
5 IFT172 NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)SNV Pathogenic 191366 rs786205855 2:27669181-27669181 2:27446314-27446314
6 IFT172 NM_015662.3(IFT172):c.1525-1G>ASNV Pathogenic 191367 rs370540673 2:27693963-27693963 2:27471096-27471096
7 IFT172 NM_015662.3(IFT172):c.4815T>G (p.Asp1605Glu)SNV Pathogenic 191368 rs786205856 2:27668796-27668796 2:27445929-27445929
8 IFT172 NM_015662.3(IFT172):c.770T>C (p.Leu257Pro)SNV Pathogenic 191369 rs786205857 2:27703928-27703928 2:27481061-27481061
9 IFT172 NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)SNV Conflicting interpretations of pathogenicity 451342 rs61747068 2:27680746-27680746 2:27457879-27457879
10 IFT172 NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)SNV Conflicting interpretations of pathogenicity 476042 rs61743977 2:27693802-27693802 2:27470935-27470935
11 IFT172 NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser)SNV Uncertain significance 424488 rs147303046 2:27695215-27695215 2:27472348-27472348
12 IFT172 NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)SNV Uncertain significance 476044 rs142409945 2:27682262-27682262 2:27459395-27459395
13 IFT172 NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)SNV Uncertain significance 476043 rs773174861 2:27684374-27684374 2:27461507-27461507
14 IFT172 NM_015662.3(IFT172):c.673G>C (p.Glu225Gln)SNV Uncertain significance 565931 rs767999703 2:27704025-27704025 2:27481158-27481158
15 IFT172 NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)SNV Uncertain significance 567846 rs917873749 2:27668172-27668172 2:27445305-27445305
16 IFT172 NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)SNV Uncertain significance 662250 2:27669205-27669205 2:27446338-27446338
17 IFT172 NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)SNV Uncertain significance 641124 2:27672381-27672381 2:27449514-27449514
18 IFT172 NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile)SNV Uncertain significance 647005 2:27685647-27685647 2:27462780-27462780
19 IFT172 NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln)SNV Uncertain significance 656002 2:27685971-27685971 2:27463104-27463104
20 IFT172 NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)SNV Uncertain significance 649457 2:27706480-27706480 2:27483613-27483613
21 IFT172 NM_015662.3(IFT172):c.247A>G (p.Ile83Val)SNV Uncertain significance 649133 2:27707934-27707934 2:27485067-27485067
22 IFT172 NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)SNV Uncertain significance 521057 rs139229844 2:27682621-27682621 2:27459754-27459754
23 IFT172 NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)SNV Uncertain significance 542658 rs147668131 2:27672571-27672571 2:27449704-27449704
24 IFT172 NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile)SNV Uncertain significance 567601 rs779801761 2:27670393-27670393 2:27447526-27447526
25 IFT172 NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly)SNV Uncertain significance 842989 2:27667337-27667337 2:27444470-27444470
26 IFT172 NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln)SNV Uncertain significance 836762 2:27668186-27668186 2:27445319-27445319
27 IFT172 NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)SNV Uncertain significance 834486 2:27668232-27668232 2:27445365-27445365
28 IFT172 NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)SNV Uncertain significance 843644 2:27668271-27668271 2:27445404-27445404
29 IFT172 NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)SNV Uncertain significance 843597 2:27668800-27668800 2:27445933-27445933
30 IFT172 NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)SNV Uncertain significance 842448 2:27671847-27671847 2:27448980-27448980
31 IFT172 NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)SNV Uncertain significance 864375 2:27672380-27672380 2:27449513-27449513
32 IFT172 NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu)SNV Uncertain significance 854218 2:27672410-27672410 2:27449543-27449543
33 IFT172 NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val)SNV Uncertain significance 835029 2:27672588-27672588 2:27449721-27449721
34 IFT172 NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)SNV Uncertain significance 847728 2:27672881-27672881 2:27450014-27450014
35 IFT172 NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys)SNV Uncertain significance 840324 2:27676281-27676281 2:27453414-27453414
36 IFT172 NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)SNV Uncertain significance 835613 2:27676316-27676316 2:27453449-27453449
37 IFT172 NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val)SNV Uncertain significance 854217 2:27676540-27676540 2:27453673-27453673
38 IFT172 NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)deletion Uncertain significance 848185 2:27676552-27676557 2:27453685-27453690
39 IFT172 NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)SNV Uncertain significance 837274 2:27676886-27676886 2:27454019-27454019
40 IFT172 NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr)SNV Uncertain significance 857153 2:27676962-27676962 2:27454095-27454095
41 IFT172 NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)SNV Uncertain significance 843450 2:27677022-27677022 2:27454155-27454155
42 IFT172 NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)SNV Uncertain significance 850299 2:27677499-27677499 2:27454632-27454632
43 IFT172 NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)SNV Uncertain significance 853137 2:27679481-27679481 2:27456614-27456614
44 IFT172 NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys)SNV Uncertain significance 849783 2:27680574-27680574 2:27457707-27457707
45 IFT172 NM_015662.3(IFT172):c.3153C>G (p.His1051Gln)SNV Uncertain significance 836187 2:27680581-27680581 2:27457714-27457714
46 IFT172 NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)SNV Uncertain significance 846515 2:27681666-27681666 2:27458799-27458799
47 IFT172 NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)SNV Uncertain significance 847729 2:27682310-27682310 2:27459443-27459443
48 IFT172 NM_015662.3(IFT172):c.2681G>A (p.Arg894His)SNV Uncertain significance 863878 2:27682351-27682351 2:27459484-27459484
49 IFT172 NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)SNV Uncertain significance 838270 2:27682364-27682364 2:27459497-27459497
50 IFT172 NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)SNV Uncertain significance 860905 2:27682696-27682696 2:27459829-27459829

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

73
# 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

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
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
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