Genopathy
Gene-Disorder Association · Article
Gene
PTPRC
Protein Tyrosine Phosphatase Receptor Type C
Disorder
Immunodeficiency 105, Severe Combined
First reported 1997
Supporting publications 4
Key publication · disorder Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45.Archives of disease in childhood · 1997
Manually curated
Association Review

In brief

The association between PTPRC (Protein Tyrosine Phosphatase Receptor Type C) and Immunodeficiency 105, Severe Combined is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 20
Symptoms 35
Compounds 0
Trials 0
Publications 4
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

3 sources

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

Request access
03
PTPRC

The gene

1 source summary

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

Request access
04
Immunodeficiency 105, Severe Combined

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

16 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

20 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

4 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access