RP71
MCID: RTN176
MIFTS: 38

Retinitis Pigmentosa 71 (RP71)

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

Aliases & Classifications for Retinitis Pigmentosa 71

MalaCards integrated aliases for Retinitis Pigmentosa 71:

Name: Retinitis Pigmentosa 71 57 12 72 29 6 15
Rp71 57 12 72
Retinitis Pigmentosa, Type 71 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 71:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 71

UniProtKB/Swiss-Prot : 72 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
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 10 with or without polydactyly 10.3 KRTCAP3 IFT172
2 retinitis pigmentosa 69 10.3 POMGNT1 ARHGEF18
3 retinitis pigmentosa 72 10.3 POMGNT1 ARHGEF18
4 retinitis pigmentosa 70 10.2 POMGNT1 ARHGEF18
5 retinitis pigmentosa 68 10.2 POMGNT1 ARHGEF18
6 retinitis pigmentosa 63 10.2 ZNF513 C8orf37
7 retinitis pigmentosa 58 10.2 ZNF513 ARHGEF18
8 bardet-biedl syndrome 11 10.1 IFT172 C8orf37
9 retinitis pigmentosa 55 10.0 PCARE C8orf37
10 retinitis pigmentosa 62 10.0 PCARE C8orf37
11 retinitis pigmentosa 51 10.0 PCARE C8orf37
12 retinitis pigmentosa 31 10.0 PCARE C8orf37
13 deafness, autosomal recessive 31 10.0 USH2A PCARE
14 retinitis pigmentosa 32 10.0 ZNF513 IMPG2
15 senior-loken syndrome 1 10.0 USH2A IFT172 C8orf37
16 retinitis pigmentosa 74 10.0 PCARE C8orf37 ARHGEF18
17 retinitis pigmentosa 67 10.0 PCARE C8orf37 ARHGEF18
18 cone-rod dystrophy 16 9.9 PCARE C8orf37
19 usher syndrome, type iic 9.9 USH2A PCARE
20 retinitis pigmentosa 54 9.9 ZNF513 PCARE C8orf37
21 retinitis pigmentosa 28 9.9 ZNF513 PCARE C8orf37
22 hereditary retinal dystrophy 9.9 USH2A IMPG2
23 occult macular dystrophy 9.9 PCARE IMPG2
24 nonsyndromic retinitis pigmentosa 9.9 USH2A DHDDS
25 choroidal dystrophy, central areolar, 1 9.7 PCARE GUCA1B
26 amblyopia 9.7 USH2A SCN8A
27 vitelliform macular dystrophy 9.7 USH2A PCARE IMPG2
28 stargardt disease 9.7 USH2A PCARE IMPG2
29 congenital stationary night blindness 9.7 ZNF513 USH2A PCARE
30 chronic interstitial cystitis 9.6 IMPG2 DHDDS C8orf37
31 bardet-biedl syndrome 9.6 USH2A PCARE KRTCAP3 IFT172 C8orf37
32 retinal disease 9.5 USH2A IMPG2 GUCA1B
33 retinal degeneration 9.2 USH2A PCARE IFT172 GUCA1B DHDDS
34 leber plus disease 8.9 ZNF513 USH2A PCARE IMPG2 IFT172 GUCA1B
35 cone-rod dystrophy 2 8.8 USH2A PCARE IMPG2 GUCA1B DHDDS C8orf37
36 fundus dystrophy 8.3 ZNF513 USH2A PCARE IMPG2 IFT172 GUCA1B
37 retinitis pigmentosa 8.0 ZNF513 USH2A POMGNT1 PCARE KRTCAP3 IMPG2

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 obesity 31 HP:0001513
4 elevated hepatic transaminase 31 HP:0002910
5 rod-cone dystrophy 31 HP:0000510
6 optic disc pallor 31 HP:0000543
7 edema 31 HP:0000969
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 71:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 ARHGEF18 C8orf37 GUCA1B IFT172 IMPG2 PCARE

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 57
25168386 2015
2
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
3
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
4
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. 6
25664603 2015
5
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 6
24140113 2013

Variations for Retinitis Pigmentosa 71

ClinVar genetic disease variations for Retinitis Pigmentosa 71:

6 (show top 50) (show all 295)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT172 NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) SNV Pathogenic 579128 rs1250676888 GRCh37: 2:27702991-27702991
GRCh38: 2:27480124-27480124
2 IFT172 NC_000002.12:g.(?_27462701)_(27463181_?)del Deletion Pathogenic 831594 GRCh37: 2:27685568-27686048
GRCh38:
3 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) SNV Pathogenic 191366 rs786205855 GRCh37: 2:27669181-27669181
GRCh38: 2:27446314-27446314
4 IFT172 NM_015662.3(IFT172):c.1525-1G>A SNV Pathogenic 191367 rs370540673 GRCh37: 2:27693963-27693963
GRCh38: 2:27471096-27471096
5 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4815T>G (p.Asp1605Glu) SNV Pathogenic 191368 rs786205856 GRCh37: 2:27668796-27668796
GRCh38: 2:27445929-27445929
6 IFT172 NM_015662.3(IFT172):c.770T>C (p.Leu257Pro) SNV Pathogenic 191369 rs786205857 GRCh37: 2:27703928-27703928
GRCh38: 2:27481061-27481061
7 IFT172 NM_015662.3(IFT172):c.3112-5T>A SNV Pathogenic 191370 rs786205858 GRCh37: 2:27680627-27680627
GRCh38: 2:27457760-27457760
8 IFT172 NM_015662.3(IFT172):c.2158del (p.Arg720fs) Deletion Pathogenic 97032 rs587777086 GRCh37: 2:27684661-27684661
GRCh38: 2:27461794-27461794
9 IFT172 NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) SNV Pathogenic 938394 GRCh37: 2:27708262-27708262
GRCh38: 2:27485395-27485395
10 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) SNV Pathogenic 97022 rs149614625 GRCh37: 2:27667370-27667370
GRCh38: 2:27444503-27444503
11 IFT172 NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) SNV Pathogenic 816981 rs202024173 GRCh37: 2:27684213-27684213
GRCh38: 2:27461346-27461346
12 IFT172 NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) Duplication Pathogenic 446697 rs750338419 GRCh37: 2:27682266-27682267
GRCh38: 2:27459399-27459400
13 IFT172 NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) SNV Pathogenic 866056 GRCh37: 2:27676352-27676352
GRCh38: 2:27453485-27453485
14 IFT172 NM_015662.3(IFT172):c.4051-1G>A SNV Likely pathogenic 971863 GRCh37: 2:27672668-27672668
GRCh38: 2:27449801-27449801
15 IFT172 NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) SNV Uncertain significance 916721 GRCh37: 2:27700873-27700873
GRCh38: 2:27478006-27478006
16 IFT172 NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) SNV Uncertain significance 916721 GRCh37: 2:27700873-27700873
GRCh38: 2:27478006-27478006
17 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) SNV Uncertain significance 451341 rs141098495 GRCh37: 2:27669216-27669216
GRCh38: 2:27446349-27446349
18 IFT172 NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) SNV Uncertain significance 373496 rs150938554 GRCh37: 2:27702971-27702971
GRCh38: 2:27480104-27480104
19 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys) SNV Uncertain significance 834486 GRCh37: 2:27668232-27668232
GRCh38: 2:27445365-27445365
20 IFT172 NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) SNV Uncertain significance 836292 GRCh37: 2:27707946-27707946
GRCh38: 2:27485079-27485079
21 IFT172 NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr) SNV Uncertain significance 838270 GRCh37: 2:27682364-27682364
GRCh38: 2:27459497-27459497
22 IFT172 NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys) SNV Uncertain significance 840324 GRCh37: 2:27676281-27676281
GRCh38: 2:27453414-27453414
23 IFT172 NM_015662.3(IFT172):c.108G>A (p.Val36=) SNV Uncertain significance 844014 GRCh37: 2:27708302-27708302
GRCh38: 2:27485435-27485435
24 IFT172 NM_015662.3(IFT172):c.2442+5G>A SNV Uncertain significance 845097 GRCh37: 2:27684131-27684131
GRCh38: 2:27461264-27461264
25 IFT172 NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp) SNV Uncertain significance 847729 GRCh37: 2:27682310-27682310
GRCh38: 2:27459443-27459443
26 IFT172 NM_015662.3(IFT172):c.1585A>G (p.Met529Val) SNV Uncertain significance 849469 GRCh37: 2:27693902-27693902
GRCh38: 2:27471035-27471035
27 IFT172 NM_015662.3(IFT172):c.1523G>A (p.Arg508His) SNV Uncertain significance 849493 GRCh37: 2:27695118-27695118
GRCh38: 2:27472251-27472251
28 IFT172 NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val) SNV Uncertain significance 854217 GRCh37: 2:27676540-27676540
GRCh38: 2:27453673-27453673
29 IFT172 NM_015662.3(IFT172):c.205G>A (p.Val69Met) SNV Uncertain significance 864374 GRCh37: 2:27707976-27707976
GRCh38: 2:27485109-27485109
30 IFT172 NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala) SNV Uncertain significance 933895 GRCh37: 2:27700932-27700932
GRCh38: 2:27478065-27478065
31 IFT172 NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys) SNV Uncertain significance 937729 GRCh37: 2:27685599-27685599
GRCh38: 2:27462732-27462732
32 IFT172 NM_015662.3(IFT172):c.1056C>G (p.His352Gln) SNV Uncertain significance 939188 GRCh37: 2:27700973-27700973
GRCh38: 2:27478106-27478106
33 IFT172 NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg) SNV Uncertain significance 939220 GRCh37: 2:27672228-27672228
GRCh38: 2:27449361-27449361
34 IFT172 NM_015662.3(IFT172):c.263A>G (p.Asn88Ser) SNV Uncertain significance 939809 GRCh37: 2:27707918-27707918
GRCh38: 2:27485051-27485051
35 IFT172 NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly) SNV Uncertain significance 941265 GRCh37: 2:27700867-27700867
GRCh38: 2:27478000-27478000
36 IFT172 NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) SNV Uncertain significance 941555 GRCh37: 2:27704075-27704075
GRCh38: 2:27481208-27481208
37 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser) SNV Uncertain significance 942546 GRCh37: 2:27668818-27668818
GRCh38: 2:27445951-27445951
38 IFT172 NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) SNV Uncertain significance 953338 GRCh37: 2:27680814-27680814
GRCh38: 2:27457947-27457947
39 IFT172 NM_015662.3(IFT172):c.1983T>A (p.His661Gln) SNV Uncertain significance 956265 GRCh37: 2:27686003-27686003
GRCh38: 2:27463136-27463136
40 IFT172 NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp) SNV Uncertain significance 956338 GRCh37: 2:27695209-27695209
GRCh38: 2:27472342-27472342
41 IFT172 NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys) SNV Uncertain significance 957239 GRCh37: 2:27680838-27680838
GRCh38: 2:27457971-27457971
42 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys) SNV Uncertain significance 959698 GRCh37: 2:27668310-27668310
GRCh38: 2:27445443-27445443
43 IFT172 NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys) SNV Uncertain significance 961445 GRCh37: 2:27695119-27695119
GRCh38: 2:27472252-27472252
44 IFT172 NM_015662.3(IFT172):c.463G>C (p.Val155Leu) SNV Uncertain significance 961902 GRCh37: 2:27706466-27706466
GRCh38: 2:27483599-27483599
45 IFT172 NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) SNV Uncertain significance 452333 rs762521619 GRCh37: 2:27688722-27688722
GRCh38: 2:27465855-27465855
46 IFT172 NM_015662.3(IFT172):c.2293G>A (p.Asp765Asn) SNV Uncertain significance 970065 GRCh37: 2:27684285-27684285
GRCh38: 2:27461418-27461418
47 IFT172 NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys) SNV Uncertain significance 972067 GRCh37: 2:27682288-27682288
GRCh38: 2:27459421-27459421
48 IFT172 NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) SNV Uncertain significance 972285 GRCh37: 2:27670419-27670419
GRCh38: 2:27447552-27447552
49 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5160+5G>A SNV Uncertain significance 956241 GRCh37: 2:27667876-27667876
GRCh38: 2:27445009-27445009
50 IFT172 NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) SNV Uncertain significance 958328 GRCh37: 2:27684314-27684314
GRCh38: 2:27461447-27461447

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

72
# 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

Cellular components related to Retinitis Pigmentosa 71 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.43 USH2A SCN8A PCARE IMPG2 IFT172 GUCA1B
2 photoreceptor inner segment GO:0001917 8.92 USH2A PCARE GUCA1B C8orf37

Biological processes related to Retinitis Pigmentosa 71 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.26 ZNF513 USH2A PCARE GUCA1B
2 visual perception GO:0007601 9.02 ZNF513 USH2A PCARE IMPG2 GUCA1B

Sources for Retinitis Pigmentosa 71

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....