BDA2
MCID: BRC079
MIFTS: 50

Brachydactyly, Type A2 (BDA2)

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

Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 57 13 54 39 71
Brachydactyly Type A2 12 74 20 58 29 6 44 15
Mohr-Wriedt Type Brachydactyly 57 12 20 73
Bda2 57 12 20 73
Brachymesophalangy Ii 57 12 73
Brachydactyly, Mohr-Wriedt Type 58
Brachymesophalangy Type 2 20
Brachymesophalangy 2 20
Brachydactyly A2 73

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 112600
SNOMED-CT 67 720569006
MESH via Orphanet 45 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

GARD : 20 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 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® : 57 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) (Updated 05-Mar-2021)

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 71)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a4 32.7 IHH GDF5
2 symphalangism, proximal, 1b 30.6 GDF5-AS1 GDF5
3 multiple synostoses syndrome 2 30.6 GDF5-AS1 GDF5
4 brachydactyly 30.5 NOG MSX2 IHH GDF5-AS1 GDF5 BMPR1B
5 brachydactyly, type c 30.5 GDF5-AS1 GDF5 BMPR1B
6 du pan syndrome 30.3 PAEP NOG IHH GDF5-AS1 GDF5 BMPR1B
7 multiple synostoses syndrome 30.0 PAEP NOG GDF6 GDF5-AS1 GDF5 BMPR1B
8 proximal symphalangism 29.6 PAEP NOG IHH GDF6 GDF5-AS1 GDF5
9 brachydactyly, type a2, with microcephaly 11.2
10 brachydactyly type a7 11.2
11 spondylolysis 10.4 GDF5 BMP2
12 acromesomelic dysplasia, hunter-thompson type 10.4 GDF5-AS1 GDF5 BMPR1B
13 acromesomelic dysplasia 10.4 GDF5-AS1 GDF5 BMPR1B
14 klippel-feil syndrome 1 10.4 GDF6 GDF5 BMPR1B
15 chondrodysplasia, grebe type 10.3 GDF5-AS1 GDF5 BMPR1B
16 pulmonary arterial hypertension associated with congenital heart disease 10.3 BMPR1B BMPR1A
17 brachydactyly, type b2 10.3 NOG GDF5 ACVR1
18 tarsal-carpal coalition syndrome 10.3 NOG GDF5 ACVR1
19 baastrup's syndrome 10.3 MSX2 ALX4
20 persistent mullerian duct syndrome 10.3 BMPR1B BMPR1A ACVR1
21 bone deterioration disease 10.3 GDF6 GDF5 BMP2
22 cartilage disease 10.3 IHH GDF5 BMP2
23 brachydactyly, type b1 10.3 NOG IHH GDF5
24 exostosis 10.3 IHH GDF5 BMP2
25 leber congenital amaurosis 17 10.3 PAEP GDF6 GDF5
26 bone structure disease 10.3 GDF6 GDF5 BMP2
27 hypertelorism, microtia, facial clefting syndrome 10.3 MSX2 ALX4
28 sugarman brachydactyly 10.3 NOG IHH GDF5 BMPR1B
29 chromosome 10q23 deletion syndrome 10.3 BMPR1B BMPR1A BMP4
30 synovial chondromatosis 10.2 NOG BMP4 BMP2
31 microphthalmia, syndromic 6 10.2 GDF6 BMP4
32 chronic pulmonary heart disease 10.2 BMPR1B BMP4 ACVR1
33 orofacial cleft 11 10.2 BMPR1B BMP4
34 diffuse idiopathic skeletal hyperostosis 10.2 NOG BMP4 BMP2
35 renal artery atheroma 10.2 BMP5 BMP3
36 microphthalmia, isolated 4 10.2 PAEP GDF6 GDF5 ACVR1
37 omphalocele 10.2 MSX2 BMPR1A ALX4
38 hemochromatosis type 2 10.2 BMP4 BMP2 ACVR1
39 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.2 BMPR1A ACVR1
40 synostoses, tarsal, carpal, and digital 10.2 NOG GDF6 GDF5 BMPR1B ACVR1
41 split-hand/foot malformation 6 10.2 FBXW4 DPCD
42 atrioventricular septal defect 10.2 BMPR1A BMP4 ACVR1
43 myositis ossificans 10.2 BMP4 ACVR1
44 parietal foramina 10.2 NELL1 MSX2 BMPR1B ALX4
45 ossification of the posterior longitudinal ligament of spine 10.2 BMP4 BMP2
46 osseous heteroplasia, progressive 10.2 NOG BMP4 BMP2 ACVR1
47 double outlet right ventricle 10.1 MSX2 BMPR1A BMP4 ACVR1
48 juvenile polyposis syndrome 10.1 NOG BMPR1B BMPR1A BMP4 BMP2
49 ankylosis 10.1 NOG GDF5 BMP4 BMP2 ACVR1
50 split-hand/foot malformation 4 10.1 FBXW4 DPCD

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.32 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
2 growth/size/body region MP:0005378 10.3 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
3 embryo MP:0005380 10.29 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
4 mortality/aging MP:0010768 10.27 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
5 limbs/digits/tail MP:0005371 10.25 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
6 digestive/alimentary MP:0005381 10.15 ACVR1 ALX4 BMP2 BMP4 BMP5 BMPR1A
7 hearing/vestibular/ear MP:0005377 10.13 ACVR1 BMP2 BMP4 BMP5 BMPR1A DPCD
8 nervous system MP:0003631 10.1 ACVR1 ALX4 BMP2 BMP4 BMPR1A BMPR1B
9 normal MP:0002873 9.91 ALX4 BMP2 BMP4 BMPR1A BMPR1B INHBE
10 skeleton MP:0005390 9.89 ACVR1 ALX4 BMP2 BMP3 BMP4 BMP5
11 respiratory system MP:0005388 9.76 ALX4 BMP4 BMP5 BMPR1A DPCD IHH
12 vision/eye MP:0005391 9.28 ALX4 BMP4 BMPR1A BMPR1B GDF6 IHH

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

Publications for Brachydactyly, Type A2

Articles related to Brachydactyly, Type A2:

(show all 16)
# Title Authors PMID Year
1
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. 61 57 6 54
19327734 2009
2
Brachydactyly type A2 associated with a defect in proGDF5 processing. 57 6 54 61
18203755 2008
3
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. 57 61 6 54
16014698 2006
4
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 6 57 61 54
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 57
21357617 2011
6
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 61 57 6
16957682 2006
7
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 61 57 6
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. 57
7390514 1980
10
Brachydactyly type A 2 in an American Negro family. 57
5013866 1972
11
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. 61
33486847 2021
12
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). 61
29129813 2018
13
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. 61
24129431 2014
14
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). 61
24710560 2014
15
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. 61
15805157 2005
16
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 26)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1B NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys) SNV Pathogenic 6555 rs121434417 4:96051026-96051026 4:95129875-95129875
2 BMPR1B NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp) SNV Pathogenic 6556 rs121434418 4:96075771-96075771 4:95154620-95154620
3 BMPR1B NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln) SNV Pathogenic 6558 rs121434419 4:96075772-96075772 4:95154621-95154621
4 GDF5-AS1 NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) SNV Pathogenic 40891 rs397514668 20:34022074-34022074 20:35434276-35434276
5 BMP2 BMP2, 2.1-KB DUP, +110 KB Duplication Pathogenic 29614
6 GDF5-AS1 NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro) SNV Pathogenic 8381 rs28936683 20:34021891-34021891 20:35434093-35434093
7 BMPR1B NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) SNV Pathogenic 446284 rs1553941890 4:96051067-96051067 4:95129916-95129916
8 BMPR1B NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) SNV Uncertain significance 850714 4:96051151-96051151 4:95130000-95130000
9 BMPR1B NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) SNV Uncertain significance 350123 rs577188671 4:96069924-96069924 4:95148773-95148773
10 BMPR1B NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) SNV Uncertain significance 350117 rs35973133 4:96051098-96051098 4:95129947-95129947
11 BMPR1B NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) SNV Uncertain significance 441001 rs34970181 4:96069934-96069934 4:95148783-95148783
12 BMPR1B NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) SNV Uncertain significance 638863 rs766791531 4:96051040-96051040 4:95129889-95129889
13 BMPR1B NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) SNV Uncertain significance 639889 rs1579119447 4:96046163-96046163 4:95125012-95125012
14 BMPR1B NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) SNV Uncertain significance 653555 rs376819253 4:96051153-96051153 4:95130002-95130002
15 BMPR1B NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) SNV Uncertain significance 663972 rs200083866 4:96036840-96036840 4:95115689-95115689
16 BMPR1B NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) SNV Likely benign 218545 rs138801821 4:96045029-96045029 4:95123878-95123878
17 BMPR1B NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) SNV Likely benign 464044 rs55980670 4:96045041-96045041 4:95123890-95123890
18 BMPR1B NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) SNV Likely benign 772926 rs760647140 4:96052622-96052622 4:95131471-95131471
19 BMPR1B NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) SNV Likely benign 906582 4:96025586-96025586 4:95104435-95104435
20 BMPR1B NM_001203.3(BMPR1B):c.*141C>T SNV Benign 350131 rs1434536 4:96075965-96075965 4:95154814-95154814
21 BMPR1B NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) SNV Benign 350116 rs34231464 4:96045056-96045056 4:95123905-95123905
22 BMPR1B NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) SNV Benign 703948 rs140430323 4:96075791-96075791 4:95154640-95154640
23 BMPR1B NM_001203.3(BMPR1B):c.1384-8T>C SNV Benign 350126 rs201359647 4:96075691-96075691 4:95154540-95154540
24 BMPR1B NM_001203.3(BMPR1B):c.247-4A>G SNV Benign 283921 rs570808649 4:96036832-96036832 4:95115681-95115681
25 BMPR1B NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) SNV Benign 350118 rs56083112 4:96051132-96051132 4:95129981-95129981
26 BMPR1B NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) SNV not provided 441001 rs34970181 4:96069934-96069934 4:95148783-95148783

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 IHH GDF6 GDF5 BMPR1B BMPR1A BMP5
2
Show member pathways
13.6 INHBE GDF6 GDF5 BMPR1B BMPR1A BMP5
3
Show member pathways
13.31 GDF6 GDF5 BMPR1B BMPR1A BMP5 BMP4
4
Show member pathways
13.12 GDF6 GDF5 BMPR1B BMPR1A BMP5 BMP4
5
Show member pathways
12.98 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
6
Show member pathways
12.96 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
7
Show member pathways
12.63 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
8
Show member pathways
12.6 BMPR1B BMPR1A BMP4 BMP3 BMP2 ACVR1
9
Show member pathways
12.41 NOG BMPR1A BMP4 ACVR1
10
Show member pathways
12.32 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
11
Show member pathways
12.2 NOG BMPR1B BMPR1A BMP5 BMP4 BMP3
12
Show member pathways
12.16 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
13 12.03 BMPR1B BMPR1A BMP4 ACVR1
14 12 GDF6 GDF5 BMPR1B BMPR1A BMP5 BMP4
15 11.99 INHBE BMPR1B BMPR1A BMP4 ACVR1
16 11.78 NOG MSX2 GDF5 BMP5 BMP4 BMP2
17
Show member pathways
11.66 GDF5 BMP4 BMP2
18 11.63 SMURF1 BMP5 BMP4 BMP3 BMP2
19 11.62 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
20
Show member pathways
11.62 SMURF1 NOG BMPR1B BMPR1A BMP2
21 11.46 NOG GDF5 BMP4
22 11.43 BMPR1A BMP4 BMP2
23 11.34 SMURF1 NOG INHBE GDF6 GDF5 BMPR1B
24 10.95 GDF6 GDF5 BMP5 BMP4 BMP3 BMP2
25 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 PAEP NOG INHBE IHH GDF6 GDF5
2 extracellular region GO:0005576 9.4 PAEP NOG NELL1 INHBE IHH GDF6
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 78)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.27 NOG IHH BMPR1B BMPR1A BMP5 BMP4
2 cell differentiation GO:0030154 10.24 SMURF1 NOG NELL1 IHH BMPR1B BMPR1A
3 multicellular organism development GO:0007275 10.24 PAEP NOG MSX2 IHH GDF6 FBXW4
4 in utero embryonic development GO:0001701 10.04 NOG IHH BMPR1A BMP2 ACVR1
5 heart development GO:0007507 10.03 BMPR1A BMP4 BMP2 ACVR1
6 cell-cell signaling GO:0007267 10.03 IHH GDF5 BMP3 BMP2
7 ossification GO:0001503 10 MSX2 IHH BMP5 BMP4 BMP3 BMP2
8 osteoblast differentiation GO:0001649 9.99 NOG MSX2 IHH BMP4 BMP3 BMP2
9 cellular response to growth factor stimulus GO:0071363 9.97 BMPR1B BMPR1A BMP4 BMP2 ACVR1
10 positive regulation of epithelial cell proliferation GO:0050679 9.97 NOG IHH BMPR1A BMP5 BMP4
11 skeletal system development GO:0001501 9.97 NOG IHH BMPR1B BMP5 BMP4 BMP3
12 transforming growth factor beta receptor signaling pathway GO:0007179 9.96 SMURF1 GDF5 BMPR1A ACVR1
13 positive regulation of osteoblast differentiation GO:0045669 9.95 NELL1 BMPR1B BMPR1A BMP4 BMP2 ACVR1
14 embryonic digit morphogenesis GO:0042733 9.93 NOG IHH FBXW4 BMPR1A BMP4 ALX4
15 pattern specification process GO:0007389 9.92 NOG IHH BMPR1A ALX4
16 positive regulation of neuron differentiation GO:0045666 9.91 GDF5 BMP4 BMP2
17 chondrocyte differentiation GO:0002062 9.91 BMPR1B BMPR1A BMP4 BMP2
18 cellular response to BMP stimulus GO:0071773 9.91 NOG BMPR1B BMPR1A BMP4 BMP2 ACVR1
19 dorsal/ventral pattern formation GO:0009953 9.9 NOG BMPR1B BMPR1A ACVR1
20 camera-type eye development GO:0043010 9.89 IHH BMPR1B BMP4
21 odontogenesis of dentin-containing tooth GO:0042475 9.88 BMPR1A BMP4 BMP2
22 mesoderm formation GO:0001707 9.88 NOG BMPR1A BMP4 ACVR1
23 positive regulation of bone mineralization GO:0030501 9.88 NELL1 BMPR1B BMPR1A BMP4 BMP2 ACVR1
24 embryonic limb morphogenesis GO:0030326 9.87 GDF5 FBXW4 BMP4
25 outflow tract morphogenesis GO:0003151 9.87 NOG BMPR1A BMP4
26 positive regulation of cell differentiation GO:0045597 9.87 BMPR1B BMP4 BMP2
27 SMAD protein signal transduction GO:0060395 9.87 INHBE GDF6 GDF5 BMP5 BMP4 BMP3
28 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.86 GDF5 BMPR1B BMPR1A ACVR1
29 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.85 BMPR1A BMP4 BMP2
30 pituitary gland development GO:0021983 9.85 NOG BMPR1A BMP4
31 endocardial cushion morphogenesis GO:0003203 9.85 NOG BMPR1A BMP2 ACVR1
32 endoderm development GO:0007492 9.84 NOG BMPR1A BMP4
33 outflow tract septum morphogenesis GO:0003148 9.83 BMPR1A BMP4 ACVR1
34 positive regulation of mesenchymal cell proliferation GO:0002053 9.83 IHH FBXW4 BMPR1A
35 embryonic morphogenesis GO:0048598 9.82 MSX2 BMPR1A BMP4
36 positive regulation of chondrocyte differentiation GO:0032332 9.81 GDF6 GDF5 BMPR1B
37 positive regulation of cartilage development GO:0061036 9.81 BMPR1B BMP4 BMP2
38 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.81 INHBE GDF6 GDF5 BMPR1A BMP5 BMP4
39 pathway-restricted SMAD protein phosphorylation GO:0060389 9.8 GDF6 BMP2 ACVR1
40 pharyngeal arch artery morphogenesis GO:0061626 9.78 NOG BMPR1A BMP4
41 endocardial cushion formation GO:0003272 9.77 BMPR1A BMP5 BMP2
42 lung morphogenesis GO:0060425 9.75 NOG BMP4
43 cardiac muscle cell differentiation GO:0055007 9.75 BMP4 BMP2
44 activin receptor signaling pathway GO:0032924 9.75 GDF6 ACVR1
45 pharyngeal system development GO:0060037 9.75 BMP5 ACVR1
46 anatomical structure formation involved in morphogenesis GO:0048646 9.75 NOG BMP4
47 somite development GO:0061053 9.75 NOG IHH
48 smooth muscle cell differentiation GO:0051145 9.75 BMP4 ACVR1
49 positive regulation of SMAD protein signal transduction GO:0060391 9.74 BMPR1A BMP4
50 positive regulation of ossification GO:0045778 9.74 BMP4 BMP2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.7 INHBE GDF6 GDF5 BMP5 BMP4 BMP3
2 SMAD binding GO:0046332 9.62 BMPR1B BMPR1A BMP2 ACVR1
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.54 BMPR1B BMPR1A ACVR1
4 activin binding GO:0048185 9.43 SMURF1 ACVR1
5 transforming growth factor beta receptor activity, type I GO:0005025 9.43 BMPR1B BMPR1A ACVR1
6 co-receptor binding GO:0039706 9.4 BMP4 BMP2
7 BMP receptor binding GO:0070700 9.26 BMP5 BMP4 BMP3 BMP2
8 growth factor activity GO:0008083 9.17 INHBE GDF6 GDF5 BMP5 BMP4 BMP3

Sources for Brachydactyly, Type A2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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