Brachydactyly, Type A2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 ⁵⁸ ¹³ ⁵⁶ ⁴¹ ⁷⁴

Brachydactyly Type A2 ¹² ⁷⁷ ⁵⁴ ⁶⁰ ⁴⁵ ¹⁵

Mohr-Wriedt Type Brachydactyly ⁵⁸ ¹² ⁵⁴ ⁷⁶

Bda2 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Brachymesophalangy Ii ⁵⁸ ¹² ⁷⁶

Type A2 Brachydactyly ³⁰ ⁶

Brachydactyly, Mohr-Wriedt Type ⁶⁰

Brachymesophalangy Type 2 ⁵⁴

Brachymesophalangy 2 ⁵⁴

Brachydactyly A2 ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

brachydactyly, type a2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of unspecified limb

Other reduction defects of unspecified limb(s)

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110965

OMIM ⁵⁸ 112600

MeSH ⁴⁵ C537089 D059327

MESH via Orphanet ⁴⁶ C537089

ICD10 via Orphanet ³⁵ Q73.8

UMLS via Orphanet ⁷⁵ C1832702

Orphanet ⁶⁰ ORPHA93396

MedGen ⁴³ C1832702

SNOMED-CT via HPO ⁷⁰ 122480009 205145001 263681008 more

UMLS ⁷⁴ C1832702

Sources

Summaries for Brachydactyly, Type A2

NIH Rare Diseases : ⁵⁴ 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 fibular hypoplasia and complex brachydactyly and brachydactyly. An important gene associated with Brachydactyly, Type A2 is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways are Degradation of the extracellular matrix and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, heart and lymph node, and related phenotypes are type a2 brachydactyly and short foot

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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means... more...

Sources

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 all 32)

#	Related Disease	Score	Top Affiliating Genes
1	fibular hypoplasia and complex brachydactyly	30.5	BMPR1B GDF5 NOG
2	brachydactyly	30.4	BMP2 BMPR1B GDF5 IHH NOG
3	brachydactyly, type c	30.2	BMPR1B GDF5 NOG
4	brachydactyly, type a2, with microcephaly	12.4
5	brachydactyly, type a4	11.6
6	brachydactyly type a7	11.3
7	acromesomelic dysplasia	10.3	BMPR1B GDF5
8	acromesomelic dysplasia, hunter-thompson type	10.3	BMPR1B GDF5
9	chondrodysplasia, grebe type	10.3	BMPR1B GDF5
10	synostoses, tarsal, carpal, and digital	10.3	GDF5 NOG
11	brachydactyly, type b2	10.2	GDF5 NOG
12	synovial chondromatosis	10.2	BMP2 NOG
13	osteochondroma	10.2	BMP2 BMPR1B
14	osseous heteroplasia, progressive	10.2	BMP2 NOG
15	degenerative disc disease	10.2	BMP2 GDF5
16	cerebral amyloid angiopathy, itm2b-related, 2	10.1	FURIN ITM2B
17	brachydactyly, type b1	10.1	IHH NOG
18	fibrodysplasia ossificans progressiva	10.1	BMPR1A NOG
19	brachydactyly, type a1	10.1	BMPR1B GDF5 IHH
20	cerebral amyloid angiopathy, itm2b-related, 1	10.1	FURIN ITM2B
21	otosclerosis	10.1	BMP2 NOG
22	juvenile polyposis syndrome	10.0	BMP2 BMPR1A
23	squamous cell papilloma	10.0	BMP2 CYP2E1
24	multiple synostoses syndrome 2	10.0
25	symphalangism, proximal, 1b	10.0
26	frozen shoulder	10.0	GDF5 MMP3
27	spondylolisthesis	9.9	BMP2 GDF5 MMP3
28	proximal symphalangism	9.9	BMPR1B GDF5 NOG PAEP
29	bone deterioration disease	9.9	BMP2 GDF5 MMP3
30	bone structure disease	9.9	BMP2 GDF5 MMP3
31	multiple synostoses syndrome	9.7	BMPR1A BMPR1B GDF5 NOG PAEP
32	lymph node disease	9.5	MMP3 SDHC

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

Sources

Symptoms & Phenotypes for Brachydactyly, Type A2

Human phenotypes related to Brachydactyly, Type A2:

⁶⁰ ³³ (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	type a2 brachydactyly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0009372
2	short foot ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001773
3	clinodactyly of the 5th finger ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004209
4	short middle phalanx of the 5th finger ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004220
5	short 2nd metacarpal ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010038
6	aplasia/hypoplasia of the middle phalanx of the 2nd finger ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0009568
7	hallux valgus ³³			HP:0001822
8	short hallux ³³			HP:0010109
9	2-3 toe syndactyly ³³			HP:0004691
10	short 2nd finger ³³			HP:0009536
11	short middle phalanx of finger ⁶⁰		Occasional (29-5%)
12	radial deviation of the 2nd finger ³³			HP:0009467
13	broad hallux ³³			HP:0010055
14	medially deviated second toe ³³			HP:0008096
15	aplasia/hypoplasia of the middle phalanx of the 5th finger ³³			HP:0009161
16	triangular shaped middle phalanx of the 5th finger ³³			HP:0009182
17	ulnar deviation of the 2nd finger ³³			HP:0009464
18	triangular shaped middle phalanx of the 2nd finger ³³			HP:0009575

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skeletal Hands:
brachydactyly
medially deviated index finger
short index finger
variable fifth finger clinodactyly
hypoplastic/aplastic middle phalanx (2nd finger)
more

Skeletal Feet:
short, broad laterally deviated halluces
medially deviated second toe
syndactyly (2-3)

Clinical features from OMIM:

112600

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.81	BMP2 BMPR1A BMPR1B CYP2E1 FURIN GDF5
2	embryo	MP:0005380	9.8	BMP2 BMPR1A BMPR1B FURIN IHH NOG
3	limbs/digits/tail	MP:0005371	9.8	BMP2 BMPR1A BMPR1B FURIN GDF5 IHH
4	craniofacial	MP:0005382	9.77	BMP2 BMPR1A BMPR1B IHH NOG
5	nervous system	MP:0003631	9.56	BMP2 BMPR1A BMPR1B FURIN IHH ITM2B
6	skeleton	MP:0005390	9.23	BMP2 BMPR1A BMPR1B GDF5 IHH MMP3

Sources

Drugs & Therapeutics for Brachydactyly, Type A2

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

Cochrane evidence based reviews: brachydactyly type a2

Sources

Genetic Tests for Brachydactyly, Type A2

Genetic tests related to Brachydactyly, Type A2:

#	Genetic test	Affiliating Genes
1	Type A2 Brachydactyly ³⁰	BMP2 BMPR1B GDF5

Sources

Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

⁴²

Bone, Heart, Lymph Node

Sources

Publications for Brachydactyly, Type A2

Articles related to Brachydactyly, Type A2:

#	Title	Authors	Year
1	A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). ( 29129813 )	Wang WB...Kang QL	2018
2	Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). ( 24710560 )	Liu X...Ma J	2014
3	A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. ( 21357617 )	Su P...Wang Y	2011
4	Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. ( 19327734 )	Dathe K...Mundlos S	2009
5	Brachydactyly type A2 associated with a defect in proGDF5 processing. ( 18203755 )	Pl?ger F...Mundlos S	2008
6	A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. ( 16014698 )	Kjaer KW...Mundlos S	2006
7	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. ( 16957682 )	Lehmann K...Mundlos S	2006
8	Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. ( 16127465 )	Seemann P...Mundlos S	2005
9	Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. ( 14523231 )	Lehmann K...Mundlos S	2003
10	Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). ( 12121354 )	Faiyaz-Ul-Haque M...Tsui LC	2002

Sources

Genes for Brachydactyly, Type A2

Genes related to Brachydactyly, Type A2 (3 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	1706.4	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	14523231 16957682 16127465 (more) 19327734
2	GDF5	Growth Differentiation Factor 5	Protein Coding	1706.26	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	16127465 16014698 19327734 (more) 18203755
3	BMP2	Bone Morphogenetic Protein 2	Protein Coding	1383.53	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)	19327734 21357617
4	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	22.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	NOG	Noggin	Protein Coding	15.33	DISEASES inferred ¹⁵
6	ITM2B	Integral Membrane Protein 2B	Protein Coding	14.91	DISEASES inferred ¹⁵
7	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	14.44	DISEASES inferred ¹⁵
8	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	14.2	DISEASES inferred ¹⁵
9	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	14.17	DISEASES inferred ¹⁵
10	CYP2E1	Cytochrome P450 Family 2 Subfamily E Member 1	Protein Coding	13.64	DISEASES inferred ¹⁵
11	MMP3	Matrix Metallopeptidase 3	Protein Coding	13.32	DISEASES inferred ¹⁵
12	GDF5OS	Growth Differentiation Factor 5 Opposite Strand	Protein Coding	7.55	GeneCards inferred via : Variants (show sections)
13	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	4.55	DISEASES inferred ¹⁵

Sources

Variations for Brachydactyly, Type A2

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

⁷⁶

#	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

ClinVar genetic disease variations for Brachydactyly, Type A2:

⁶ (show all 23)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BMPR1B	NM_001203.2(BMPR1B): c.599T> A (p.Ile200Lys)	single nucleotide variant	Pathogenic	rs121434417	GRCh37	Chromosome 4, 96051026: 96051026
2	BMPR1B	NM_001203.2(BMPR1B): c.599T> A (p.Ile200Lys)	single nucleotide variant	Pathogenic	rs121434417	GRCh38	Chromosome 4, 95129875: 95129875
3	BMPR1B	NM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp)	single nucleotide variant	Pathogenic	rs121434418	GRCh37	Chromosome 4, 96075771: 96075771
4	BMPR1B	NM_001203.2(BMPR1B): c.1456C> T (p.Arg486Trp)	single nucleotide variant	Pathogenic	rs121434418	GRCh38	Chromosome 4, 95154620: 95154620
5	BMPR1B	NM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln)	single nucleotide variant	Pathogenic	rs121434419	GRCh37	Chromosome 4, 96075772: 96075772
6	BMPR1B	NM_001203.2(BMPR1B): c.1457G> A (p.Arg486Gln)	single nucleotide variant	Pathogenic	rs121434419	GRCh38	Chromosome 4, 95154621: 95154621
7	GDF5	NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro)	single nucleotide variant	Pathogenic	rs28936683	GRCh37	Chromosome 20, 34021891: 34021891
8	GDF5	NM_000557.4(GDF5): c.1322T> C (p.Leu441Pro)	single nucleotide variant	Pathogenic	rs28936683	GRCh38	Chromosome 20, 35434093: 35434093
9	BMP2	BMP2, 2.1-KB DUP, +110 KB	duplication	Pathogenic
10	GDF5	NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln)	single nucleotide variant	Pathogenic	rs397514668	GRCh37	Chromosome 20, 34022074: 34022074
11	GDF5	NM_000557.4(GDF5): c.1139G> A (p.Arg380Gln)	single nucleotide variant	Pathogenic	rs397514668	GRCh38	Chromosome 20, 35434276: 35434276
12	BMPR1B	NM_001203.2(BMPR1B): c.705C> T (p.Thr235=)	single nucleotide variant	Benign/Likely benign	rs56083112	GRCh37	Chromosome 4, 96051132: 96051132
13	BMPR1B	NM_001203.2(BMPR1B): c.705C> T (p.Thr235=)	single nucleotide variant	Benign/Likely benign	rs56083112	GRCh38	Chromosome 4, 95129981: 95129981
14	BMPR1B	NM_001203.2(BMPR1B): c.*141C> T	single nucleotide variant	Benign	rs1434536	GRCh37	Chromosome 4, 96075965: 96075965
15	BMPR1B	NM_001203.2(BMPR1B): c.*141C> T	single nucleotide variant	Benign	rs1434536	GRCh38	Chromosome 4, 95154814: 95154814
16	BMPR1B	NM_001203.2(BMPR1B): c.300C> T (p.Asn100=)	single nucleotide variant	Likely benign	rs140499888	GRCh38	Chromosome 4, 95115738: 95115738
17	BMPR1B	NM_001203.2(BMPR1B): c.300C> T (p.Asn100=)	single nucleotide variant	Likely benign	rs140499888	GRCh37	Chromosome 4, 96036889: 96036889
18	BMPR1B	NM_001203.2(BMPR1B): c.1112G> A (p.Arg371Gln)	single nucleotide variant	Uncertain significance	rs34970181	GRCh38	Chromosome 4, 95148783: 95148783
19	BMPR1B	NM_001203.2(BMPR1B): c.1112G> A (p.Arg371Gln)	single nucleotide variant	Uncertain significance	rs34970181	GRCh37	Chromosome 4, 96069934: 96069934
20	BMPR1B	NM_001203.2(BMPR1B): c.430T> C (p.Leu144=)	single nucleotide variant	Likely benign	rs55980670	GRCh37	Chromosome 4, 96045041: 96045041
21	BMPR1B	NM_001203.2(BMPR1B): c.430T> C (p.Leu144=)	single nucleotide variant	Likely benign	rs55980670	GRCh38	Chromosome 4, 95123890: 95123890
22	BMPR1B	NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser)	single nucleotide variant	Pathogenic	rs1553941890	GRCh38	Chromosome 4, 95129916: 95129916
23	BMPR1B	NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser)	single nucleotide variant	Pathogenic	rs1553941890	GRCh37	Chromosome 4, 96051067: 96051067

Copy number variations for Brachydactyly, Type A2 from CNVD:

⁷

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

Sources

Expression for Brachydactyly, Type A2

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

Sources

Pathways for Brachydactyly, Type A2

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

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.36	BMP2 FURIN GDF5 MMP3
2	Human Embryonic Stem Cell Pluripotency ⁶⁵ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁵	12.11	BMP2 BMPR1A BMPR1B NOG
3	Hippo signaling pathway ³⁸	11.75	BMP2 BMPR1A BMPR1B GDF5
4	Elastic fibre formation ⁶⁷ Show member pathways Molecules associated with elastic fibres ⁶⁷	11.36	BMP2 FURIN GDF5
5	Signaling by BMP ⁶⁷ Show member pathways BMP receptor signaling ¹ Bone Morphogenic Protein (BMP) Signalling and Regulation ¹	11.11	BMP2 BMPR1A BMPR1B NOG
6	TGF-beta signaling pathway (KEGG) ³⁸	10.99	BMP2 BMPR1A BMPR1B GDF5 NOG
7	Cardiomyocyte Differentiation through BMP Receptors ⁶⁵	10.67	BMP2 BMPR1A BMPR1B

Sources

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	9.7	BMP2 FURIN GDF5 IHH ITM2B MMP3
2	extracellular region	GO:0005576	9.23	BMP2 FURIN GDF5 IHH ITM2B MMP3
3	HFE-transferrin receptor complex	GO:1990712	8.96	BMPR1A BMPR1B

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

(show all 36)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell signaling	GO:0007267	9.85	BMP2 GDF5 IHH
2	in utero embryonic development	GO:0001701	9.83	BMP2 BMPR1A IHH NOG
3	osteoblast differentiation	GO:0001649	9.79	BMP2 IHH NOG
4	skeletal system development	GO:0001501	9.78	BMP2 BMPR1B IHH NOG
5	positive regulation of epithelial cell proliferation	GO:0050679	9.73	BMPR1A IHH NOG
6	transforming growth factor beta receptor signaling pathway	GO:0007179	9.73	BMPR1A BMPR1B FURIN GDF5
7	positive regulation of osteoblast differentiation	GO:0045669	9.72	BMP2 BMPR1A BMPR1B
8	embryonic digit morphogenesis	GO:0042733	9.71	BMPR1A IHH NOG
9	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.69	BMP2 BMPR1A GDF5
10	epithelial to mesenchymal transition	GO:0001837	9.67	BMP2 NOG
11	dorsal/ventral pattern formation	GO:0009953	9.67	BMPR1A BMPR1B NOG
12	collagen catabolic process	GO:0030574	9.66	FURIN MMP3
13	mesoderm formation	GO:0001707	9.65	BMPR1A NOG
14	endoderm development	GO:0007492	9.65	BMPR1A NOG
15	pituitary gland development	GO:0021983	9.65	BMPR1A NOG
16	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.64	BMP2 BMPR1A
17	positive regulation of mesenchymal cell proliferation	GO:0002053	9.64	BMPR1A IHH
18	positive regulation of chondrocyte differentiation	GO:0032332	9.63	BMPR1B GDF5
19	positive regulation of bone mineralization	GO:0030501	9.63	BMP2 BMPR1A BMPR1B
20	positive regulation of cartilage development	GO:0061036	9.62	BMP2 BMPR1B
21	somite development	GO:0061053	9.62	IHH NOG
22	pattern specification process	GO:0007389	9.62	BMPR1A BMPR1B IHH NOG
23	hindlimb morphogenesis	GO:0035137	9.61	BMPR1A GDF5
24	mesenchymal cell differentiation	GO:0048762	9.6	BMP2 NOG
25	pharyngeal arch artery morphogenesis	GO:0061626	9.59	BMPR1A NOG
26	proteoglycan metabolic process	GO:0006029	9.58	BMP2 IHH
27	ventricular compact myocardium morphogenesis	GO:0003223	9.58	BMPR1A NOG
28	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.58	BMPR1A BMPR1B GDF5
29	BMP signaling pathway involved in heart development	GO:0061312	9.57	BMPR1A NOG
30	endocardial cushion morphogenesis	GO:0003203	9.54	BMP2 BMPR1A NOG
31	cellular response to BMP stimulus	GO:0071773	9.46	BMP2 BMPR1A BMPR1B NOG
32	chondrocyte differentiation	GO:0002062	9.43	BMP2 BMPR1A BMPR1B
33	BMP signaling pathway	GO:0030509	9.35	BMP2 BMPR1A BMPR1B GDF5 NOG
34	cartilage development	GO:0051216	9.1	BMP2 BMPR1A BMPR1B GDF5 IHH NOG
35	positive regulation of transcription by RNA polymerase II	GO:0045944	10.06	BMP2 BMPR1A BMPR1B IHH NOG
36	cell differentiation	GO:0030154	10.03	BMP2 BMPR1A BMPR1B IHH NOG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor binding	GO:0005160	9.32	BMP2 GDF5
2	transforming growth factor beta-activated receptor activity	GO:0005024	9.26	BMPR1A BMPR1B
3	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.16	BMPR1A BMPR1B
4	transforming growth factor beta receptor activity, type I	GO:0005025	8.96	BMPR1A BMPR1B
5	SMAD binding	GO:0046332	8.8	BMP2 BMPR1A BMPR1B

Sources

Sources for Brachydactyly, Type A2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Brachydactyly, Type A2 (BDA2)

Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Brachydactyly, Type A2

Related Diseases for Brachydactyly, Type A2

Diseases in the Brachydactyly family:

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

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

Symptoms & Phenotypes for Brachydactyly, Type A2

Human phenotypes related to Brachydactyly, Type A2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

Drugs & Therapeutics for Brachydactyly, Type A2

Cochrane evidence based reviews: brachydactyly type a2

Genetic Tests for Brachydactyly, Type A2

Genetic tests related to Brachydactyly, Type A2:

Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

Publications for Brachydactyly, Type A2

Articles related to Brachydactyly, Type A2:

Genes for Brachydactyly, Type A2

Genes related to Brachydactyly, Type A2 (3 elite genes):

Variations for Brachydactyly, Type A2

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

ClinVar genetic disease variations for Brachydactyly, Type A2:

Copy number variations for Brachydactyly, Type A2 from CNVD:

Expression for Brachydactyly, Type A2

Pathways for Brachydactyly, Type A2

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

GO Terms for Brachydactyly, Type A2

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:

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

Sources for Brachydactyly, Type A2