Brachydactyly type A2

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(37.1%)		 15805157
 A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K.
J Med Genet. 2005;42(4):314-7.
Hypoplasia of the uterus Brachydactyly Ulnar deviation of the hand
BMPR1B GDF5
rs863223287
Bone Morphogenetic Protein Receptors, Type I Bone Morphogenetic Proteins Females Homo sapiens Homozygote Limb Deformities, Congenital Models, Genetic Mutation Ovarian Diseases Phenotype Sequence Analysis
2
(35.3%)		 24129431
 Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P.
Eur J Hum Genet. 2014;22(6):726-33.
Brachydactyly
BMPR1B CDK5RAP3 GDF5
c|SUB|G|657|A;RS#:863225042 c|SUB|T|157|C;RS#:863225041 p|SUB|C|53|R;RS#:863225041 rs863225041 rs863225042
Amino Acid Sequence Animals Bone Morphogenetic Protein Receptors, Type I Child, Preschool Codon, Nonsense DNA Mutational Analysis Females Homo sapiens Homozygote Male Missense Mutation Molecular Sequence Data Mus NIH 3T3 Cells Osteochondrodysplasias Phenotype Sequence Homology, Amino Acid Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0009372 Type A2 brachydactyly Very frequent (99-80%)
HP:0001773 Short foot Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004220 Short middle phalanx of the 5th finger Occasional (29-5%)
HP:0005819 Short middle phalanx of finger Occasional (29-5%)
HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Occasional (29-5%)
HP:0010038 Short 2nd metacarpal Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
BMP2 bone morphogenetic protein 2 650
GDF5 growth differentiation factor 5 8200
BMPR1B bone morphogenetic protein receptor type 1B 658