Genopathy
Gene-Disorder Association · Article
Gene
IGSF1
Immunoglobulin Superfamily Member 1
Disorder
Hypothyroidism, Central, With Testicular Enlargement
First reported 2012
Supporting publications 5
Key publication · gene–disorder Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Nature genetics · 2012
Key publication · disorder Sibship with 17-ketosteroid reductase (17-KSR) deficiency and hypothyroidism. Lack of linkage of histocompatibility leucocyte antigen and 17-KSR loci.The Journal of clinical endocrinology and metabolism · 1983
Manually curated
Association Review

In brief

The association between IGSF1 (Immunoglobulin Superfamily Member 1) and Hypothyroidism, Central, With Testicular Enlargement is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 34
Symptoms 25
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

5 sources

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

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03
IGSF1

The gene

1 source summary

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

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04
Hypothyroidism, Central, With Testicular Enlargement

The disorder

11 database identifiers

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

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05
Phenotype

Clinical features

5 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

34 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

5 publications

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

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09
Provenance

References & sources

13 references

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

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