Details of Disease | DrugMAP

General Information of Disease (ID: DISTY3WW)

Disease Name	Acrocapitofemoral dysplasia
Synonyms	ACFD; acrocapitofemoral dysplasia
Definition	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Disease Hierarchy	DIS9SPWW: Osteochondrodysplasia DISMZUIT: Acromelic dysplasia DISTY3WW: Acrocapitofemoral dysplasia
Disease Identifiers	MONDO ID MONDO_0011907 MESH ID C564334 UMLS CUI C1843096 OMIM ID 607778 MedGen ID 334681 Orphanet ID 63446 SNOMED CT ID 720416007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IHH	OT1DWGXC	Definitive	Autosomal recessive	[1]
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References

1	Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet. 2003 Apr;72(4):1040-6. doi: 10.1086/374318. Epub 2003 Mar 11.