BDA2
MCID: BRC079
MIFTS: 51
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Brachydactyly, Type A2 (BDA2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Brachydactyly, Type A2:
Characteristics:Orphanet epidemiological data:58
brachydactyly type a2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to Brachydactyly, Type A2:58 31 (show all 18)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:112600GenomeRNAi Phenotypes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Brachydactyly, Type A2:45 (show all 14)
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Cochrane evidence based reviews: brachydactyly type a2 |
MalaCards organs/tissues related to Brachydactyly, Type A2:40
Bone,
Heart
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Articles related to Brachydactyly, Type A2:(show all 15)
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ClinVar genetic disease variations for Brachydactyly, Type A2:6 (show all 23)
UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type A2:73
Copy number variations for Brachydactyly, Type A2 from CNVD:7
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Pathways related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:(show all 28)
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Cellular components related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:
Biological processes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:(show top 50) (show all 84)
Molecular functions related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:
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