BDA2
MCID: BRC079
MIFTS: 51

Brachydactyly, Type A2 (BDA2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 56 13 54 39 71
Brachydactyly Type A2 12 74 52 58 29 6 43 15
Mohr-Wriedt Type Brachydactyly 56 12 52 73
Bda2 56 12 52 73
Brachymesophalangy Ii 56 12 73
Brachydactyly, Mohr-Wriedt Type 58
Brachymesophalangy Type 2 52
Brachymesophalangy 2 52
Brachydactyly A2 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type a2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type a2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110965
OMIM 56 112600
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
UMLS 71 C1832702

Summaries for Brachydactyly, Type A2

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...

Related Diseases for Brachydactyly, Type A2

Diseases in the Brachydactyly family:

Brachydactyly, Type A1 Brachydactyly, Type A2
Brachydactyly, Type A3 Brachydactyly, Type A4
Brachydactyly, Type B1 Brachydactyly, Type C
Brachydactyly, Type D Brachydactyly, Type E1
Brachydactyly, Type A1, B Brachydactyly, Type B2
Brachydactyly, Type E2 Brachydactyly, Type A1, C
Brachydactyly, Type A1, D Brachydactyly Type A5
Brachydactyly Type A7

Diseases related to Brachydactyly, Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a4 33.2 IHH GDF5
2 symphalangism, proximal, 1b 30.8 GDF5-AS1 GDF5
3 multiple synostoses syndrome 2 30.8 GDF5-AS1 GDF5
4 du pan syndrome 30.6 NOG IHH GDF5 BMPR1B
5 brachydactyly, type c 30.6 GDF5-AS1 GDF5 BMPR1B
6 brachydactyly 30.3 NOG MSX2 IHH GDF5-AS1 GDF5 BMPR1B
7 multiple synostoses syndrome 30.1 NOG GDF6 GDF5-AS1 GDF5 BMPR1B BMPR1A
8 proximal symphalangism 29.9 NOG GDF6 GDF5 BMPR1B BMP4 BMP2
9 brachydactyly, type a2, with microcephaly 12.4
10 brachydactyly type a7 11.4
11 pulmonary arterial hypertension associated with congenital heart disease 10.5 BMPR1B BMPR1A
12 acromesomelic dysplasia, hunter-thompson type 10.4 GDF5-AS1 GDF5 BMPR1B
13 leber congenital amaurosis 17 10.4 GDF6 GDF5
14 acromesomelic dysplasia 10.4 GDF5-AS1 GDF5 BMPR1B
15 microphthalmia, isolated 4 10.4 GDF6 GDF5
16 klippel-feil syndrome 1 10.4 GDF6 GDF5 BMPR1B
17 brachydactyly, type b2 10.4 NOG GDF5 ACVR1
18 tarsal-carpal coalition syndrome 10.4 NOG GDF5 ACVR1
19 persistent mullerian duct syndrome 10.4 BMPR1B BMPR1A ACVR1
20 bone structure disease 10.3 GDF6 GDF5 BMP2
21 brachydactyly, type b1 10.3 NOG IHH GDF5
22 exostosis 10.3 IHH GDF5 BMP2
23 split-hand/foot malformation 3 10.3 FBXW4 DPCD
24 synostoses, tarsal, carpal, and digital 10.3 NOG GDF5 BMPR1B ACVR1
25 chondrodysplasia, grebe type 10.3 GDF5 BMPR1B
26 brachydactyly, type a1, c 10.3 NOG GDF6 GDF5-AS1 GDF5
27 chromosome 10q23 deletion syndrome 10.3 BMPR1B BMPR1A BMP4
28 orofacial cleft 11 10.3 BMPR1B BMP4
29 hypertelorism, microtia, facial clefting syndrome 10.3 MSX2 ALX4
30 baastrup's syndrome 10.3 MSX2 GDF6 ALX4
31 sugarman brachydactyly 10.3 NOG IHH GDF5 BMPR1B
32 dystonia 16 10.3 BMP5 ALX4
33 synovial chondromatosis 10.3 NOG BMP4 BMP2
34 fibrochondrogenesis 10.2 GDF5 BMP4 BMP2
35 omphalocele 10.2 MSX2 BMPR1A ALX4
36 renal artery atheroma 10.2 BMP5 BMP3
37 chronic pulmonary heart disease 10.2 BMPR1B BMP4 ACVR1
38 split-hand/foot malformation 6 10.2 FBXW4 DPCD
39 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.2 GDF2 BMPR1A ACVR1
40 atrioventricular septal defect 10.2 BMPR1A BMP4 ACVR1
41 parietal foramina 10.2 NELL1 MSX2 BMPR1B ALX4
42 syngnathia 10.1 MSX2 BMP4
43 bone disease 10.1 NOG GDF6 GDF5 BMP2
44 hyaline fibromatosis syndrome 10.1 NOG MSX2 BMP4
45 juvenile polyposis syndrome 10.1 NOG BMPR1A BMP4 BMP2
46 osseous heteroplasia, progressive 10.1 NOG BMP4 BMP2 ACVR1
47 ossification of the posterior longitudinal ligament of spine 10.1 GDF2 BMP4 BMP2
48 split-hand/foot malformation 4 10.1 FBXW4 DPCD
49 myositis ossificans 10.0 BMP4 ACVR1
50 osteogenic sarcoma 10.0

Graphical network of the top 20 diseases related to Brachydactyly, Type A2:



Diseases related to Brachydactyly, Type A2

Symptoms & Phenotypes for Brachydactyly, Type A2

Human phenotypes related to Brachydactyly, Type A2:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type a2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0009372
2 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
3 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
4 short middle phalanx of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004220
5 short 2nd metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010038
6 aplasia/hypoplasia of the middle phalanx of the 2nd finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009568
7 hallux valgus 31 HP:0001822
8 short hallux 31 HP:0010109
9 short 2nd finger 31 HP:0009536
10 short middle phalanx of finger 58 Occasional (29-5%)
11 radial deviation of the 2nd finger 31 HP:0009467
12 2-3 toe syndactyly 31 HP:0004691
13 broad hallux 31 HP:0010055
14 medially deviated second toe 31 HP:0008096
15 ulnar deviation of the 2nd finger 31 HP:0009464
16 aplasia/hypoplasia of the middle phalanx of the 5th finger 31 HP:0009161
17 triangular shaped middle phalanx of the 5th finger 31 HP:0009182
18 triangular shaped middle phalanx of the 2nd finger 31 HP:0009575

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
medially deviated index finger
short index finger
variable fifth finger clinodactyly
hypoplastic/aplastic middle phalanx (2nd finger)
more
Skeletal Feet:
medially deviated second toe
short, broad laterally deviated halluces
syndactyly (2-3)

Clinical features from OMIM:

112600

GenomeRNAi Phenotypes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

26
# 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

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
2 craniofacial MP:0005382 10.35 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
3 mortality/aging MP:0010768 10.34 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
4 embryo MP:0005380 10.32 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
5 limbs/digits/tail MP:0005371 10.3 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
6 digestive/alimentary MP:0005381 10.18 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
7 hearing/vestibular/ear MP:0005377 10.18 ACVR1 BMP2 BMP4 BMP5 BMPR1A DPCD
8 nervous system MP:0003631 10.15 ACVR1 ALX4 BMP2 BMP4 BMPR1A BMPR1B
9 normal MP:0002873 9.97 ALX4 BMP2 BMP4 BMPR1A BMPR1B INHBE
10 muscle MP:0005369 9.95 ACVR1 ALX4 BMP4 BMPR1A IHH MSX2
11 reproductive system MP:0005389 9.91 BMP2 BMP4 BMP5 BMPR1A BMPR1B DPCD
12 skeleton MP:0005390 9.91 ACVR1 ALX4 BMP2 BMP3 BMP4 BMP5
13 respiratory system MP:0005388 9.76 ALX4 BMP4 BMP5 BMPR1A DPCD IHH
14 vision/eye MP:0005391 9.28 ALX4 BMP4 BMPR1A BMPR1B GDF2 GDF6

Drugs & Therapeutics for Brachydactyly, Type A2

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type A2

Cochrane evidence based reviews: brachydactyly type a2

Genetic Tests for Brachydactyly, Type A2

Genetic tests related to Brachydactyly, Type A2:

# Genetic test Affiliating Genes
1 Brachydactyly Type A2 29 BMP2 BMPR1B GDF5

Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

40
Bone, Heart

Publications for Brachydactyly, Type A2

Articles related to Brachydactyly, Type A2:

(show all 15)
# Title Authors PMID Year
1
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. 6 54 56 61
19327734 2009
2
Brachydactyly type A2 associated with a defect in proGDF5 processing. 6 56 54 61
18203755 2008
3
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. 56 6 61 54
16014698 2006
4
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 56 54 61 6
16127465 2005
5
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. 61 6 56
21357617 2011
6
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 61 6 56
16957682 2006
7
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 61 6 56
14523231 2003
8
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). 6
12121354 2002
9
Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred. 56
7390514 1980
10
Brachydactyly type A 2 in an American Negro family. 56
5013866 1972
11
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). 61
29129813 2018
12
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 61
24129431 2014
13
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). 61
24710560 2014
14
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 61
15805157 2005
15
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. 61
15569154 2004

Variations for Brachydactyly, Type A2

ClinVar genetic disease variations for Brachydactyly, Type A2:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1B NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)SNV Pathogenic 446284 rs1553941890 4:96051067-96051067 4:95129916-95129916
2 BMPR1B NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys)SNV Pathogenic 6555 rs121434417 4:96051026-96051026 4:95129875-95129875
3 BMPR1B NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp)SNV Pathogenic 6556 rs121434418 4:96075771-96075771 4:95154620-95154620
4 BMPR1B NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln)SNV Pathogenic 6558 rs121434419 4:96075772-96075772 4:95154621-95154621
5 GDF5 NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)SNV Pathogenic 8381 rs28936683 20:34021891-34021891 20:35434093-35434093
6 BMP2 BMP2, 2.1-KB DUP, +110 KBduplication Pathogenic 29614
7 GDF5 NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)SNV Pathogenic 40891 rs397514668 20:34022074-34022074 20:35434276-35434276
8 BMPR1B NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser)SNV Conflicting interpretations of pathogenicity 350123 rs577188671 4:96069924-96069924 4:95148773-95148773
9 BMPR1B NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val)SNV Uncertain significance 850714 4:96051151-96051151 4:95130000-95130000
10 BMPR1B NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)SNV Uncertain significance 441001 rs34970181 4:96069934-96069934 4:95148783-95148783
11 BMPR1B NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)SNV Uncertain significance 663972 4:96036840-96036840 4:95115689-95115689
12 BMPR1B NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys)SNV Uncertain significance 639889 4:96046163-96046163 4:95125012-95125012
13 BMPR1B NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu)SNV Uncertain significance 638863 4:96051040-96051040 4:95129889-95129889
14 BMPR1B NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu)SNV Uncertain significance 653555 4:96051153-96051153 4:95130002-95130002
15 BMPR1B NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=)SNV Likely benign 772926 4:96052622-96052622 4:95131471-95131471
16 BMPR1B NM_001203.3(BMPR1B):c.430T>C (p.Leu144=)SNV Likely benign 464044 rs55980670 4:96045041-96045041 4:95123890-95123890
17 BMPR1B NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)SNV Benign/Likely benign 218545 rs138801821 4:96045029-96045029 4:95123878-95123878
18 BMPR1B NM_001203.3(BMPR1B):c.247-4A>GSNV Benign 283921 rs570808649 4:96036832-96036832 4:95115681-95115681
19 BMPR1B NM_001203.3(BMPR1B):c.705C>T (p.Thr235=)SNV Benign 350118 rs56083112 4:96051132-96051132 4:95129981-95129981
20 BMPR1B NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=)SNV Benign 703948 4:96075791-96075791 4:95154640-95154640
21 BMPR1B NM_001203.3(BMPR1B):c.1384-8T>CSNV Benign 350126 rs201359647 4:96075691-96075691 4:95154540-95154540
22 BMPR1B NM_001203.3(BMPR1B):c.*141C>TSNV Benign 350131 rs1434536 4:96075965-96075965 4:95154814-95154814
23 BMPR1B NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp)SNV Benign 350116 rs34231464 4:96045056-96045056 4:95123905-95123905

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type A2:

73
# Symbol AA change Variation ID SNP ID
1 BMPR1B p.Ile200Lys VAR_023819 rs121434417
2 BMPR1B p.Arg486Trp VAR_023820 rs121434418
3 BMPR1B p.Arg486Gln VAR_037967 rs121434419
4 GDF5 p.Leu441Pro VAR_017408 rs28936683
5 GDF5 p.Arg380Gln VAR_046743 rs397514668

Copy number variations for Brachydactyly, Type A2 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 154928 20 5000000 9000000 Duplication BMP2 Brachydactyly type A2

Expression for Brachydactyly, Type A2

Search GEO for disease gene expression data for Brachydactyly, Type A2.

Pathways for Brachydactyly, Type A2

Pathways related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 IHH GDF6 GDF5 GDF2 BMPR1B BMPR1A
2
Show member pathways
13.63 INHBE GDF6 GDF5 GDF2 BMPR1B BMPR1A
3
Show member pathways
13.49 IHH GDF6 GDF5 GDF2 BMP5 BMP4
4
Show member pathways
13.34 GDF6 GDF5 GDF2 BMPR1B BMPR1A BMP5
5
Show member pathways
13.25 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
6
Show member pathways
13.21 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
7
Show member pathways
13.2 GDF6 GDF5 GDF2 BMPR1B BMPR1A BMP5
8
Show member pathways
13.03 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
9
Show member pathways
13.01 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
10
Show member pathways
12.65 BMPR1B BMPR1A BMP4 BMP3 BMP2 ACVR1
11
Show member pathways
12.64 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
12
Show member pathways
12.42 NOG BMPR1A BMP4 ACVR1
13
Show member pathways
12.35 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
14
Show member pathways
12.21 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
15
Show member pathways
12.2 NOG BMPR1B BMPR1A BMP5 BMP4 BMP3
16 12.08 INHBE BMPR1B BMPR1A BMP4 ACVR1
17 12.04 BMPR1B BMPR1A BMP4 ACVR1
18 12 GDF6 GDF5 BMPR1B BMPR1A BMP5 BMP4
19 11.78 NOG MSX2 GDF5 BMP5 BMP4 BMP2
20 11.69 SMURF1 BMP5 BMP4 BMP3 BMP2
21
Show member pathways
11.67 GDF5 BMP4 BMP2
22 11.64 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
23
Show member pathways
11.62 SMURF1 NOG BMPR1B BMPR1A BMP2
24 11.47 NOG GDF5 BMP4
25 11.44 BMPR1A BMP4 BMP2
26 11.34 SMURF1 NOG INHBE GDF6 GDF5 BMPR1B
27 10.98 GDF6 GDF5 GDF2 BMP5 BMP4 BMP3
28 10.7 BMPR1B BMPR1A BMP5 BMP4 BMP2

GO Terms for Brachydactyly, Type A2

Cellular components related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 NOG INHBE IHH GDF6 GDF5 GDF2
2 extracellular region GO:0005576 9.4 NOG NELL1 INHBE IHH GDF6 GDF5
3 HFE-transferrin receptor complex GO:1990712 9.26 BMPR1B BMPR1A
4 BMP receptor complex GO:0070724 9.16 BMP2 ACVR1

Biological processes related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.3 NOG MSX2 IHH GDF6 FBXW4 BMP5
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.3 NOG IHH GDF2 BMPR1B BMPR1A BMP5
3 cell differentiation GO:0030154 10.27 SMURF1 NOG NELL1 IHH BMPR1B BMPR1A
4 positive regulation of transcription, DNA-templated GO:0045893 10.18 GDF6 GDF2 BMPR1A BMP4 BMP2 ACVR1
5 in utero embryonic development GO:0001701 10.06 NOG IHH BMPR1A BMP2 ACVR1
6 skeletal system development GO:0001501 10.06 NOG IHH BMPR1B BMP5 BMP4 BMP3
7 osteoblast differentiation GO:0001649 10.05 NOG MSX2 IHH GDF2 BMP4 BMP3
8 heart development GO:0007507 10.04 BMPR1A BMP4 BMP2 ACVR1
9 cell-cell signaling GO:0007267 10.04 IHH GDF5 BMP3 BMP2
10 ossification GO:0001503 10.04 MSX2 IHH GDF2 BMP5 BMP4 BMP3
11 cellular response to growth factor stimulus GO:0071363 10 MSX2 BMPR1B BMPR1A BMP4 BMP2 ACVR1
12 positive regulation of epithelial cell proliferation GO:0050679 9.99 NOG IHH BMPR1A BMP5 BMP4
13 transforming growth factor beta receptor signaling pathway GO:0007179 9.98 SMURF1 GDF5 BMPR1A ACVR1
14 positive regulation of osteoblast differentiation GO:0045669 9.98 NELL1 MSX2 BMPR1B BMPR1A BMP4 BMP2
15 positive regulation of neuron differentiation GO:0045666 9.97 GDF6 GDF5 BMP4 BMP2
16 embryonic limb morphogenesis GO:0030326 9.95 MSX2 GDF5 FBXW4 BMP4
17 pattern specification process GO:0007389 9.95 NOG IHH BMPR1A BMP5 ALX4
18 positive regulation of bone mineralization GO:0030501 9.95 NELL1 BMPR1B BMPR1A BMP4 BMP2 ACVR1
19 embryonic digit morphogenesis GO:0042733 9.95 NOG MSX2 IHH FBXW4 BMPR1A BMP4
20 anterior/posterior pattern specification GO:0009952 9.94 MSX2 BMPR1A ALX4
21 outflow tract morphogenesis GO:0003151 9.94 NOG MSX2 BMPR1A BMP4
22 chondrocyte differentiation GO:0002062 9.94 BMPR1B BMPR1A BMP4 BMP2
23 dorsal/ventral pattern formation GO:0009953 9.93 NOG BMPR1B BMPR1A ACVR1
24 mesoderm formation GO:0001707 9.92 NOG BMPR1A BMP4 ACVR1
25 positive regulation of BMP signaling pathway GO:0030513 9.92 MSX2 GDF5 GDF2 BMP4
26 positive regulation of endothelial cell proliferation GO:0001938 9.91 GDF2 BMP4 BMP2
27 outflow tract septum morphogenesis GO:0003148 9.91 MSX2 BMPR1A BMP4 ACVR1
28 camera-type eye development GO:0043010 9.9 IHH BMPR1B BMP4
29 odontogenesis of dentin-containing tooth GO:0042475 9.89 BMPR1A BMP4 BMP2
30 positive regulation of cell differentiation GO:0045597 9.88 BMPR1B BMP4 BMP2
31 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.88 GDF5 BMPR1B BMPR1A ACVR1
32 endocardial cushion morphogenesis GO:0003203 9.88 NOG BMPR1A BMP2 ACVR1
33 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.87 BMPR1A BMP4 BMP2
34 cellular response to BMP stimulus GO:0071773 9.87 NOG GDF2 BMPR1B BMPR1A BMP4 BMP2
35 endoderm development GO:0007492 9.86 NOG BMPR1A BMP4
36 branching involved in blood vessel morphogenesis GO:0001569 9.86 IHH GDF2 ACVR1
37 pituitary gland development GO:0021983 9.86 NOG BMPR1A BMP4
38 positive regulation of cartilage development GO:0061036 9.86 GDF2 BMPR1B BMP4 BMP2
39 SMAD protein signal transduction GO:0060395 9.86 INHBE GDF6 GDF5 GDF2 BMP5 BMP4
40 embryonic hindlimb morphogenesis GO:0035116 9.85 MSX2 BMP4 ALX4
41 positive regulation of mesenchymal cell proliferation GO:0002053 9.85 IHH FBXW4 BMPR1A
42 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.85 INHBE GDF6 GDF5 GDF2 BMPR1A BMP5
43 pathway-restricted SMAD protein phosphorylation GO:0060389 9.84 GDF6 GDF2 BMP2 ACVR1
44 embryonic morphogenesis GO:0048598 9.83 MSX2 BMPR1A BMP4
45 activin receptor signaling pathway GO:0032924 9.83 GDF6 GDF2 ACVR1
46 positive regulation of chondrocyte differentiation GO:0032332 9.83 GDF6 GDF5 BMPR1B
47 pharyngeal arch artery morphogenesis GO:0061626 9.8 NOG BMPR1A BMP4
48 BMP signaling pathway involved in heart development GO:0061312 9.77 NOG MSX2 BMPR1A BMP4 ACVR1
49 chondrocyte development GO:0002063 9.76 MSX2 BMPR1B
50 pharyngeal system development GO:0060037 9.76 BMP5 ACVR1

Molecular functions related to Brachydactyly, Type A2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.62 BMPR1B BMPR1A BMP2 ACVR1
2 cytokine activity GO:0005125 9.56 INHBE GDF6 GDF5 GDF2 BMP5 BMP4
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.54 BMPR1B BMPR1A ACVR1
4 BMP receptor binding GO:0070700 9.46 BMP5 BMP4 BMP3 BMP2
5 activin binding GO:0048185 9.43 SMURF1 ACVR1
6 transforming growth factor beta receptor activity, type I GO:0005025 9.43 BMPR1B BMPR1A ACVR1
7 co-receptor binding GO:0039706 9.4 BMP4 BMP2
8 growth factor activity GO:0008083 9.23 INHBE GDF6 GDF5 GDF2 BMP5 BMP4

Sources for Brachydactyly, Type A2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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