Details of Disease | DrugMAP

General Information of Disease (ID: DISPNJ3R)

Disease Name	Pelviscapular dysplasia
Synonyms	craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature; craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; COUSIN syndrome; pelviscapular dysplasia; familial pelvis-scapular dysplasia; Cousin syndrome
Definition	Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
Disease Hierarchy	DIS3LICD: Congenital limb malformation DIS5M94B: Non-syndromic limb reduction defect DISHPNVX: Dysplasia DISPNJ3R: Pelviscapular dysplasia
Disease Identifiers	MONDO ID MONDO_0009845 MESH ID C535550 UMLS CUI C1850040 OMIM ID 260660 MedGen ID 342400 Orphanet ID 93333 SNOMED CT ID 719299009

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
TBX15	OTAZ9QDX	Definitive	Autosomal recessive	[1]
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References

1	TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet. 2008 Nov;83(5):649-55. doi: 10.1016/j.ajhg.2008.10.011.