Brachydactyly, Type A2 (BDA2)

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Disease Ontology 12 DOID:0110965 OMIM 56 112600 MeSH 43 C537089 D059327 SNOMED-CT 67 720569006 MESH via Orphanet 44 C537089 ICD10 via Orphanet 33 Q73.8

UMLS via Orphanet 72 C1832702 Orphanet 58 ORPHA93396 MedGen 41 C1832702 SNOMED-CT via HPO 68 122480009 205145001 263681008 415692008 more UMLS 71 C1832702

NIH Rare Diseases : ⁵² Brachydactyly type A2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe. Typically, people affected by brachydactyly type A2 have very short (hypoplastic) middle bones of these digits. In some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that the fingers and toes may look misshapen. There have not been reports of other symptoms associated with brachydactyly type A2. Typically, brachydactyly type A2 does not require surgery, and affected individuals are able to use their hands normally.

MalaCards based summary : Brachydactyly, Type A2, also known as brachydactyly type a2, is related to brachydactyly, type a4 and symphalangism, proximal, 1b. An important gene associated with Brachydactyly, Type A2 is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include bone and heart, and related phenotypes are type a2 brachydactyly and clinodactyly of the 5th finger

Disease Ontology : ¹² A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has material basis in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.

OMIM : ⁵⁶ Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011). (112600)

UniProtKB/Swiss-Prot : ⁷³ Brachydactyly A2: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.

Wikipedia : ⁷⁴ Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

Clinical features from OMIM:

112600

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-1	9.23	ACVR1 BMPR1B
2	Decreased substrate adherent cell growth	GR00193-A-2	9.23	BMPR1A
3	Decreased substrate adherent cell growth	GR00193-A-3	9.23	ACVR1 BMPR1A
4	Decreased substrate adherent cell growth	GR00193-A-4	9.23	ACVR1 BMPR1A BMPR1B

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