RDH11

protein-coding

retinol dehydrogenase 11, the group of Short chain dehydrogenase/reductase superfamily

Gene summary

Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_016026.4

Inheritance

AR, AD

ClinVar variants

P:9U:133B:60

Top phenotype

Microphthalmia, isolated, with coloboma 10; Retinal dystrophy, juvenile cataracts, and short stature syndrome

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr14:67,676,800-67,695,793

External References & Databases

Ensembl (ENSG00000072042)

Transcript & Mutation Effects

hg38 • Region Span ~19.0 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0014495

Submitter: Ambry Genetics

retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0014495

Submitter: PanelApp Australia

retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0014495

Submitter: Labcorp Genetics (formerly Invitae)

retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0014495

Submitter: G2P

retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeSUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0014495

Submitter: Orphanet

Clinical Genomic Database (CGD)

Microphthalmia, isolated, with coloboma 10; Retinal dystrophy, juvenile cataracts, and short stature syndromeAD/AR

Manifestation: Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 24916380; 25910211

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RDH11 variants in ClinVar

6 Conditions Cataloged

not providedTotal: 209

not specifiedTotal: 70

RDH11-related disorderTotal: 8

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeTotal: 5

Retinal dystrophyTotal: 1

Optic atrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016026.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	55 clinvar		56
missense			122 clinvar	4 clinvar	1 clinvar	127
nonsense	3 clinvar	2 clinvar	2 clinvar			7
start loss						0
frameshift	3 clinvar		2 clinvar			5
splice donor/acceptor (+/-2bp)		1 clinvar	6 clinvar			7
Total	6	3	133	59	1	202

Highest pathogenic variant AF is 0.000014250787

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016026.4	RefSeq	NP_057110.3	7	MANE Select
ENST00000381346.9	Ensembl	ENSP00000370750.4	7	MANE Select
NM_001252650.2	RefSeq	NP_001239579.1	6	Standard
ENST00000428130.6	Ensembl	ENSP00000416395.2	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Retinol metabolism - Homo sapiens (human)
Vitamin A Deficiency
Retinol Metabolism
Signaling by GPCR
Signal Transduction

Biological Process

retinoid metabolic process
adaptation of rhodopsin mediated signaling
retinol metabolic process
retinal metabolic process
oxidation-reduction process

Molecular Function

retinol dehydrogenase activity
protein binding
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
NADP-retinol dehydrogenase activity

Cellular Component

photoreceptor inner segment
endoplasmic reticulum membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381346
Coding exons: 7
Length: 19014
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125747
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.554	158	179	0.883	0.00000970	2052
Missense (PolyPhen)		70	80.029	0.87468		932
Synonymous	-0.781	82	73.5	1.12	0.00000406	660
Loss of Function	0.597	12	14.4	0.831	7.32e-7	171

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0.000066	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected.;
Disease: DISEASE: Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) [MIM:616108]: A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. {ECO:0000269|PubMed:24916380}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Intolerance Scores

LoFtool: 0.208
RVIS EVS: 0.08
RVIS percentile EVS: 60.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.689

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium