Genopathy
Gene-Disorder Association · Article
Gene
IHH
Indian Hedgehog Signaling Molecule
Disorder
Acrocapitofemoral Dysplasia
First reported 2003
Supporting publications 2
Key publication · gene–disorder Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.American journal of human genetics · 2003
Key publication · disorder ACFD supports concept of consumer involvement in accreditation process.Dental journal · 1975
Manually curated
Association Review

In brief

The association between IHH (Indian Hedgehog Signaling Molecule) and Acrocapitofemoral Dysplasia is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 16
Symptoms 78
Compounds 0
Trials 0
Publications 2
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

5 sources

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

Request access
03
IHH

The gene

1 source summary

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

Request access
04
Acrocapitofemoral Dysplasia

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

53 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

16 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

2 shared pathways

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

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access