Retinitis pigmentosa 71

Summary

Retinitis pigmentosa 71 (MONDO:0014618) is a disease caused by IFT172 (GenCC Strong), with 3 cohort genes.

At a glance

• Causal gene: IFT172 (GenCC Strong)
• Cohort genes: 3
• ClinVar variants: 1,633

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinitis pigmentosa 71
Mondo ID	MONDO:0014618
OMIM	616394
DOID	DOID:0110363
UMLS	C4225342
MedGen	897209
GARD	0016101
Is cancer (heuristic)	no

Also known as: IFT172 retinitis pigmentosa · retinitis pigmentosa 71 · retinitis pigmentosa caused by mutation in IFT172 · retinitis pigmentosa type 71 · RP71

Data availability: 1,633 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › retinitis pigmentosa › retinitis pigmentosa 71

Related subtypes (101): retinitis pigmentosa 6, cone-rod dystrophy 2, retinitis pigmentosa 1, retinitis pigmentosa 9, retinitis pigmentosa 10, dominant pericentral pigmentary retinopathy, late-adult onset retinitis pigmentosa, autosomal recessive pericentral pigmentary retinopathy, retinitis pigmentosa 3, retinitis pigmentosa 24, retinitis pigmentosa 23, retinitis pigmentosa 34, retinitis pigmentosa 2, retinitis pigmentosa Y-linked, 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, cone-rod dystrophy 15, 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, cone-rod dystrophy 16, retinitis pigmentosa 66, retinitis pigmentosa with or without situs inversus, retinitis pigmentosa 67, retinitis pigmentosa 68, retinitis pigmentosa 69, retinitis pigmentosa 70, retinal dystrophy and obesity, retinitis pigmentosa 72, retinitis pigmentosa 73, retinitis pigmentosa 74, retinitis pigmentosa 75, retinitis pigmentosa 76, retinitis pigmentosa 77, retinitis pigmentosa 92, retinitis pigmentosa 93, retinitis pigmentosa 83, retinitis pigmentosa 84, retinitis pigmentosa 85, retinitis pigmentosa 86, retinitis pigmentosa 87 with choroidal involvement, retinitis pigmentosa 88, retinitis pigmentosa 90, retinitis pigmentosa 81, retinitis pigmentosa 78, retinitis pigmentosa 79, retinitis pigmentosa 80, retinitis pigmentosa 94, variable age at onset, retinitis pigmentosa 53, retinitis pigmentosa 65, retinitis pigmentosa 64, retinitis pigmentosa 95, retinitis pigmentosa 96, retinitis pigmentosa 97, retinitis pigmentosa 98, retinitis pigmentosa 99, retinitis pigmentosa 100, retinitis pigmentosa 101, retinitis pigmentosa 7, digenic

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

292 uncertain significance, 233 likely benign, 39 conflicting classifications of pathogenicity, 14 pathogenic, 8 likely pathogenic, 7 pathogenic/likely pathogenic, 5 benign, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1068458	NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)	IFT172	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069553	NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter)	IFT172	Pathogenic	criteria provided, single submitter
1070963	NM_015662.3(IFT172):c.4853del (p.Ser1618fs)	IFT172	Pathogenic	criteria provided, single submitter
1071120	NM_015662.3(IFT172):c.2567del (p.Leu856fs)	IFT172	Pathogenic	criteria provided, single submitter
1071329	NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs)	IFT172	Pathogenic	criteria provided, single submitter
1074967	NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter)	IFT172	Pathogenic	criteria provided, single submitter
1075988	NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)	IFT172	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076916	NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter)	IFT172	Pathogenic	criteria provided, single submitter
1179103	NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs)	IFT172	Pathogenic	criteria provided, multiple submitters, no conflicts
1355657	NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer)	IFT172	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1362201	NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)	IFT172	Pathogenic	criteria provided, single submitter
1365957	NM_015662.3(IFT172):c.4597dup (p.Thr1533fs)	IFT172	Pathogenic	criteria provided, single submitter
1390470	NM_015662.3(IFT172):c.1209del (p.Phe403fs)	IFT172	Pathogenic	criteria provided, single submitter
1394651	NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)	IFT172	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1431370	NM_015662.3(IFT172):c.4194dup (p.Phe1399fs)	IFT172	Pathogenic	criteria provided, single submitter
1451190	NM_015662.3(IFT172):c.1115dup (p.His372fs)	IFT172	Pathogenic	criteria provided, single submitter
1452074	NM_015662.3(IFT172):c.2078del (p.Lys693fs)	IFT172	Pathogenic	criteria provided, single submitter
1455123	NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)	IFT172	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1456416	NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)	IFT172	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1457968	NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter)	IFT172	Pathogenic	criteria provided, single submitter
1073662	NM_015662.3(IFT172):c.4789dup (p.Leu1597fs)	KRTCAP3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066130	NM_015662.3(IFT172):c.910-2A>G	IFT172	Likely pathogenic	criteria provided, single submitter
1067864	NM_015662.3(IFT172):c.5069-2A>G	IFT172	Likely pathogenic	criteria provided, single submitter
1348759	NM_015662.3(IFT172):c.184-2A>C	IFT172	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1469425	NM_015662.3(IFT172):c.2521+1G>T	IFT172	Likely pathogenic	criteria provided, single submitter
1487038	NM_015662.3(IFT172):c.402+2T>G	IFT172	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1515269	NM_015662.3(IFT172):c.3952-1G>C	IFT172	Likely pathogenic	criteria provided, single submitter
1516850	NM_015662.3(IFT172):c.4311+1G>A	IFT172	Likely pathogenic	criteria provided, single submitter
1524924	NM_015662.3(IFT172):c.4815+2_4815+3del	IFT172	Likely pathogenic	criteria provided, single submitter
1000135	NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)	IFT172	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 12 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
IFT172	Strong	Autosomal recessive	retinitis pigmentosa 71	12

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IFT172	Orphanet:110	Bardet-Biedl syndrome
IFT172	Orphanet:140969	Saldino-Mainzer syndrome
IFT172	Orphanet:474	Jeune syndrome
IFT172	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
IFT172	HGNC:30391	ENSG00000138002	Q9UG01	Intraflagellar transport protein 172 homolog	gencc,clinvar
FNDC4	HGNC:20239	ENSG00000115226	Q9H6D8	Fibronectin type III domain-containing protein 4	clinvar
KRTCAP3	HGNC:28943	ENSG00000157992	Q53RY4	Keratinocyte-associated protein 3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IFT172	Intraflagellar transport protein 172 homolog	Required for the maintenance and formation of cilia.
FNDC4	Fibronectin type III domain-containing protein 4	Has anti-inflammatory properties.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.33

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	9.7×	0.246
Scaffold/PPI	1	5.8×	0.246
Other/Unknown	1	0.6×	0.914

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IFT172	Scaffold/PPI	no		WD40_rpt, TPR-like_helical_dom_sf, WD40/YVTN_repeat-like_dom_sf
FNDC4	Antibody/Immunoglobulin	yes		FN3_dom, Ig-like_fold, FN3_sf
KRTCAP3	Other/Unknown	no		Beta-casein-like

Expression context

Cohort genes with no expression data: 0.

3 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right uterine tube	2
bronchial epithelial cell	1
left testis	1
left adrenal gland	1
left adrenal gland cortex	1
right adrenal gland	1
mucosa of transverse colon	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IFT172	236	ubiquitous	marker	right uterine tube, bronchial epithelial cell, left testis
FNDC4	208	ubiquitous	marker	left adrenal gland cortex, left adrenal gland, right adrenal gland
KRTCAP3	197	broad	marker	mucosa of transverse colon, pancreatic ductal cell, right uterine tube

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IFT172	1,922
KRTCAP3	639
FNDC4	615

Intra-cohort edges

A	B	Sources
FNDC4	KRTCAP3	string_interaction

Structural data

PDB: 1 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IFT172	Q9UG01	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
KRTCAP3	Q53RY4	76.17
FNDC4	Q9H6D8	70.27

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 3 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Intraflagellar transport	1	200.3×	0.006	IFT172
Hedgehog ‘off’ state	1	178.4×	0.006	IFT172

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
hindgut development	1	8426.0×	0.003	IFT172
response to transforming growth factor beta	1	936.2×	0.010	FNDC4
left/right axis specification	1	601.9×	0.010	IFT172
embryonic camera-type eye morphogenesis	1	561.7×	0.010	IFT172
spinal cord motor neuron differentiation	1	468.1×	0.010	IFT172
intraciliary anterograde transport	1	443.5×	0.010	IFT172
negative regulation of keratinocyte proliferation	1	351.1×	0.010	IFT172
keratinocyte proliferation	1	290.6×	0.010	IFT172
intraciliary transport	1	280.9×	0.010	IFT172
negative regulation of smoothened signaling pathway	1	227.7×	0.010	IFT172
dorsal/ventral pattern formation	1	210.7×	0.010	IFT172
positive regulation of smoothened signaling pathway	1	210.7×	0.010	IFT172
limb development	1	205.5×	0.010	IFT172
cytoplasmic microtubule organization	1	172.0×	0.011	IFT172
non-motile cilium assembly	1	145.3×	0.011	IFT172
bone development	1	138.1×	0.011	IFT172
heart looping	1	133.8×	0.011	IFT172
roof of mouth development	1	123.9×	0.012	IFT172
epidermis development	1	105.3×	0.013	IFT172
neural tube closure	1	93.6×	0.014	IFT172
smoothened signaling pathway	1	90.6×	0.014	IFT172
protein processing	1	85.1×	0.014	IFT172
Notch signaling pathway	1	70.8×	0.016	IFT172
negative regulation of inflammatory response	1	68.5×	0.016	FNDC4
brain development	1	39.8×	0.026	IFT172
cilium assembly	1	36.8×	0.027	IFT172

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 3

Druggability breadth: 0 of 3 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IFT172	0	0
FNDC4	0	0
KRTCAP3	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	FNDC4
E	Difficult family or no structure, no drug	2	IFT172, KRTCAP3

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
IFT172	0	—
FNDC4	0	—
KRTCAP3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.