Genopathy
Gene-Disorder Association · Article
Gene
RNPC3
RNA Binding Region (RNP1, RRM) Containing 3
Disorder
Isolated Growth Hormone Deficiency, Type Ia
First reported 1950
Supporting publications 1
Key publication · disorder [Phorogenesis of primordial dwarfism].Zeitschrift fur Kinderheilkunde · 1950
Manually curated
Association Review

In brief

The association between RNPC3 (RNA Binding Region (RNP1, RRM) Containing 3) and Isolated Growth Hormone Deficiency, Type Ia is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 16
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
RNPC3

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Isolated Growth Hormone Deficiency, Type Ia

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

9 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
07
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access