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IHH

Indian hedgehog signaling molecule
4 disorders 2 causative 2 untyped 2q35 gene with protein product
HGNC:5956MonarchNCBI Gene 3549ENSG00000163501UniProt Q14623OMIM 600726

Aliases: HHG2, BDA1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Acrocapitofemoral Dysplasia causative germline
mechanism: Biallelic IHH Signaling-Domain Missense Variants
Microphthalmia with Coloboma causative germline
mechanism: IHH i8 enhancer disruption
subtype: IHH-Enhancer-MCOPCB13
scoped to subtype: IHH-Enhancer-MCOPCB13
Brachydactyly Type A1 untyped
CAUSAL
mechanism: Failed Interphalangeal Joint Cavitation from Suppressed Interzone Apoptosis; IHH Protein Instability and Trafficking Defects; Impaired IHH-Patched1 Receptor Signaling
IHH-Related Polysyndactyly untyped
Candidate regulatory driver of the limb phenotype within a disease-associated multigene duplication
germline
mechanism: Ectopic IHH Contacts with the EPHA4 Regulatory Domain; Large Tandem Duplication Encompassing IHH and Adjacent Regulatory Sequence; Proposed Ectopic IHH Expression in Embryonic Limb Mesenchyme
variant: K1549/K1552 familial 913663 bp IHH-containing tandem duplication
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.