Details of Disease | DrugMAP

General Information of Disease (ID: DISSQNHW)

Disease Name	Acromesomelic dysplasia 2B
Synonyms	fibular aplasia-complex brachydactyly syndrome; fibular hypoplasia and complex brachydactyly; acromesomelic dysplasia 2B; Du Pan syndrome
Disease Hierarchy	DISR3TMZ: Acromesomelic dysplasia DISCPWH9: Autosomal recessive disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISSQNHW: Acromesomelic dysplasia 2B
Disease Identifiers	MONDO ID MONDO_0009231 MESH ID C537931 UMLS CUI C1856738 OMIM ID 228900 MedGen ID 346432 Orphanet ID 2639 SNOMED CT ID 715474004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GDF5	TT37XV9	Definitive	Autosomal recessive	[1]
GDF5	TT37XV9	Definitive	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMPR1B	OTGFN0OD	Supportive	Autosomal recessive	[3]
GDF5	OTOV8S81	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. Am J Med Genet A. 2005 Nov 1;138(4):379-83. doi: 10.1002/ajmg.a.30969.
2	Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.Am J Med Genet A. 2008 Aug 15;146A(16):2116-21. doi: 10.1002/ajmg.a.32435.
3	A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5.