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

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Aliases & Classifications for Brachydactyly, Type A2

MalaCards integrated aliases for Brachydactyly, Type A2:

Name: Brachydactyly, Type A2 ⁵⁷ ¹³ ⁵⁵ ⁴⁰ ⁷³

Brachydactyly Type A2 ¹² ⁷⁶ ⁵³ ⁵⁹ ⁴⁴ ¹⁵

Mohr-Wriedt Type Brachydactyly ⁵⁷ ¹² ⁵³ ⁷⁵

Bda2 ⁵⁷ ¹² ⁵³ ⁷⁵

Brachymesophalangy Ii ⁵⁷ ¹² ⁷⁵

Type A2 Brachydactyly ²⁹ ⁶

Brachydactyly, Mohr-Wriedt Type ⁵⁹

Brachymesophalangy Type 2 ⁵³

Brachymesophalangy 2 ⁵³

Brachydactyly A2 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ³⁴

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: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 112600

Disease Ontology ¹² DOID:0110965

MeSH ⁴⁴ C537089 D059327

Orphanet ⁵⁹ ORPHA93396

MESH via Orphanet ⁴⁵ C537089

UMLS via Orphanet ⁷⁴ C1832702

ICD10 via Orphanet ³⁴ Q73.8

MedGen ⁴² C1832702

SNOMED-CT via HPO ⁶⁹ 263681008 122480009 415692008 more

UMLS ⁷³ C1832702

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Summaries for Brachydactyly, Type A2

NIH Rare Diseases : ⁵³ 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 and brachydactyly, type c. An important gene associated with Brachydactyly, Type A2 is GDF5 (Growth Differentiation Factor 5), 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 short foot 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Brachydactyly (Greek βρα�?ύ�? = "short" plus δάκ�?�?λο�? = "finger"), is a medical term which literally... more...

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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 29)

#	Related Disease	Score	Top Affiliating Genes
1	brachydactyly	30.3	ROR2 NOG IHH GDF5 BMPR1B BMP2
2	brachydactyly, type c	30.0	ROR2 NOG GDF5 BMPR1B
3	brachydactyly, type a2, with microcephaly	12.3
4	brachydactyly, type a4	11.5
5	brachydactyly type a7	11.2
6	acromesomelic dysplasia	10.2	GDF5 BMPR1B
7	acromesomelic dysplasia, hunter-thompson type	10.2	GDF5 BMPR1B
8	chondrodysplasia, grebe type	10.2	GDF5 BMPR1B
9	synostoses, tarsal, carpal, and digital	10.2	NOG GDF5
10	symphalangism, proximal, 1a	10.1	ROR2 NOG
11	tarsal-carpal coalition syndrome	10.1	ROR2 NOG
12	synovial chondromatosis	10.1	NOG BMP2
13	osseous heteroplasia, progressive	10.1	NOG BMP2
14	fibular hypoplasia and complex brachydactyly	10.1	NOG GDF5 BMPR1B
15	osteochondroma	10.1	BMPR1B BMP2
16	brachydactyly, type b2	10.1	ROR2 NOG GDF5
17	cerebral amyloid angiopathy, itm2b-related, 2	10.1	ITM2B FURIN
18	degenerative disc disease	10.1	GDF5 BMP2
19	cerebral amyloid angiopathy, itm2b-related, 1	10.0	ITM2B FURIN
20	brachydactyly, type b1	10.0	ROR2 NOG IHH
21	squamous cell papilloma	10.0	CYP2E1 BMP2
22	frozen shoulder	10.0	MMP3 GDF5
23	brachydactyly, type a1	10.0	ROR2 IHH GDF5 BMPR1B
24	fibrodysplasia ossificans progressiva	9.9	NOG BMPR1A
25	spondylolisthesis	9.9	MMP3 GDF5 BMP2
26	bone deterioration disease	9.9	MMP3 GDF5 BMP2
27	bone structure disease	9.9	MMP3 GDF5 BMP2
28	multiple synostoses syndrome	9.8	BMPR1B BMPR1A PAEP NOG GDF5
29	proximal symphalangism	9.8	ROR2 PAEP NOG GDF5 BMPR1B

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

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Symptoms & Phenotypes for Brachydactyly, Type A2

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Brachydactyly, Type A2:

⁵⁹ ³² (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short foot ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001773
2	clinodactyly of the 5th finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004209
3	short middle phalanx of the 5th finger ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0004220
4	short 2nd metacarpal ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010038
5	type a2 brachydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009372
6	aplasia/hypoplasia of the middle phalanx of the 2nd finger ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0009568
7	hallux valgus ³²			HP:0001822
8	short hallux ³²			HP:0010109
9	2-3 toe syndactyly ³²			HP:0004691
10	short 2nd finger ³²			HP:0009536
11	short middle phalanx of finger ⁵⁹		Occasional (29-5%)
12	radial deviation of the 2nd finger ³²			HP:0009467
13	broad hallux ³²			HP:0010055
14	medially deviated second toe ³²			HP:0008096
15	aplasia/hypoplasia of the middle phalanx of the 5th finger ³²			HP:0009161
16	triangular shaped middle phalanx of the 5th finger ³²			HP:0009182
17	ulnar deviation of the 2nd finger ³²			HP:0009464
18	triangular shaped middle phalanx of the 2nd finger ³²			HP:0009575

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased cell viability after pRB stimulation	GR00230-A-1	8.8	BMPR1A BMPR1B ROR2

MGI Mouse Phenotypes related to Brachydactyly, Type A2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.95	BMP2 BMPR1A CYP2E1 FURIN IHH NOG
2	embryo	MP:0005380	9.87	BMP2 BMPR1A BMPR1B FURIN IHH NOG
3	limbs/digits/tail	MP:0005371	9.86	BMP2 BMPR1A BMPR1B FURIN GDF5 IHH
4	craniofacial	MP:0005382	9.85	BMP2 BMPR1A BMPR1B IHH NOG ROR2
5	mortality/aging	MP:0010768	9.85	BMP2 BMPR1A BMPR1B CYP2E1 FURIN GDF5
6	nervous system	MP:0003631	9.61	BMP2 BMPR1A BMPR1B FURIN IHH ITM2B
7	skeleton	MP:0005390	9.28	BMP2 BMPR1A BMPR1B GDF5 IHH MMP3

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Drugs & Therapeutics for Brachydactyly, Type A2

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

Cochrane evidence based reviews: brachydactyly type a2

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Genetic Tests for Brachydactyly, Type A2

Genetic tests related to Brachydactyly, Type A2:

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

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Anatomical Context for Brachydactyly, Type A2

MalaCards organs/tissues related to Brachydactyly, Type A2:

⁴¹

Bone, Heart, Lymph Node

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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 )		2018
2	Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). ( 24710560 )		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 )		2009
5	Brachydactyly type A2 associated with a defect in proGDF5 processing. ( 18203755 )	Ploeger F....Mundlos S.	2008
6	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
7	A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. ( 16014698 )	Kjaer K.W....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 )		2003

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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	GDF5	Growth Differentiation Factor 5	Protein Coding	1706.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	16127465 16014698 19327734 (more) 18203755
2	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	1696.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	14523231 16957682 16127465 (more) 19327734
3	BMP2	Bone Morphogenetic Protein 2	Protein Coding	1383.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)	19327734 21357617
4	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	22.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	Protein Coding	15.41	DISEASES inferred ¹⁵
6	NOG	Noggin	Protein Coding	15.3	DISEASES inferred ¹⁵
7	ITM2B	Integral Membrane Protein 2B	Protein Coding	14.9	DISEASES inferred ¹⁵
8	IHH	Indian Hedgehog	Protein Coding	14.42	DISEASES inferred ¹⁵
9	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	14.18	DISEASES inferred ¹⁵
10	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	14.16	DISEASES inferred ¹⁵
11	CYP2E1	Cytochrome P450 Family 2 Subfamily E Member 1	Protein Coding	13.62	DISEASES inferred ¹⁵
12	MMP3	Matrix Metallopeptidase 3	Protein Coding	13.3	DISEASES inferred ¹⁵
13	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	4.52	DISEASES inferred ¹⁵

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Variations for Brachydactyly, Type A2

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

⁷⁵

#	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 26)

#	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	Pathogenic	NC_000005.10: g.104486890_104506841del19952	deletion	0	rsRCV000033864	Chromosome 5, 103822591:103842542	40972
13	Pathogenic	NC_000005.10: g.104486890_104506841del19952	deletion	0	rsRCV000033864	Chromosome 5, 104486890:104506841	40972
14	Pathogenic	17q21.31 Microdeletion	deletion	0	rsRCV000033866		40974
15	BMPR1B	NM_001203.2(BMPR1B): c.705C> T (p.Thr235=)	single nucleotide variant	Benign/Likely benign	rs56083112	GRCh37	Chromosome 4, 96051132: 96051132
16	BMPR1B	NM_001203.2(BMPR1B): c.705C> T (p.Thr235=)	single nucleotide variant	Benign/Likely benign	rs56083112	GRCh38	Chromosome 4, 95129981: 95129981
17	BMPR1B	NM_001203.2(BMPR1B): c.*141C> T	single nucleotide variant	Benign	rs1434536	GRCh37	Chromosome 4, 96075965: 96075965
18	BMPR1B	NM_001203.2(BMPR1B): c.*141C> T	single nucleotide variant	Benign	rs1434536	GRCh38	Chromosome 4, 95154814: 95154814
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.1112G> A (p.Arg371Gln)	single nucleotide variant	Uncertain significance	rs34970181	GRCh38	Chromosome 4, 95148783: 95148783
21	BMPR1B	NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 4, 96051067: 96051067
22	BMPR1B	NM_001203.2(BMPR1B): c.640C> A (p.Arg214Ser)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 4, 95129916: 95129916
23	BMPR1B	NM_001203.2(BMPR1B): c.430T> C (p.Leu144=)	single nucleotide variant	Likely benign	rs55980670	GRCh38	Chromosome 4, 95123890: 95123890
24	BMPR1B	NM_001203.2(BMPR1B): c.430T> C (p.Leu144=)	single nucleotide variant	Likely benign	rs55980670	GRCh37	Chromosome 4, 96045041: 96045041
25	BMPR1B	NM_001203.2(BMPR1B): c.300C> T (p.Asn100=)	single nucleotide variant	Likely benign	rs140499888	GRCh38	Chromosome 4, 95115738: 95115738
26	BMPR1B	NM_001203.2(BMPR1B): c.300C> T (p.Asn100=)	single nucleotide variant	Likely benign	rs140499888	GRCh37	Chromosome 4, 96036889: 96036889

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

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Expression for Brachydactyly, Type A2

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

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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 ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.36	BMP2 FURIN GDF5 MMP3
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.11	BMP2 BMPR1A BMPR1B NOG
3	Hippo signaling pathway ³⁷	11.75	BMP2 BMPR1A BMPR1B GDF5
4	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.36	BMP2 FURIN GDF5
5	Signaling by BMP ⁶⁶ 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) ³⁷	10.95	BMP2 BMPR1A BMPR1B GDF5 NOG
7	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.67	BMP2 BMPR1A BMPR1B

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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	receptor complex	GO:0043235	9.43	BMPR1A BMPR1B ROR2
3	extracellular region	GO:0005576	9.23	BMP2 FURIN GDF5 IHH ITM2B MMP3
4	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 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	in utero embryonic development	GO:0001701	9.84	BMP2 BMPR1A IHH NOG
2	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.81	BMP2 NOG ROR2
3	osteoblast differentiation	GO:0001649	9.8	BMP2 IHH NOG
4	transforming growth factor beta receptor signaling pathway	GO:0007179	9.78	BMPR1A BMPR1B FURIN GDF5
5	positive regulation of epithelial cell proliferation	GO:0050679	9.75	BMPR1A IHH NOG
6	positive regulation of osteoblast differentiation	GO:0045669	9.73	BMP2 BMPR1A BMPR1B
7	SMAD protein signal transduction	GO:0060395	9.72	BMP2 GDF5 ROR2
8	skeletal system development	GO:0001501	9.72	BMP2 BMPR1B IHH NOG ROR2
9	pattern specification process	GO:0007389	9.71	BMPR1A BMPR1B IHH NOG
10	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.7	BMP2 BMPR1A GDF5
11	dorsal/ventral pattern formation	GO:0009953	9.69	BMPR1A BMPR1B NOG
12	bone mineralization	GO:0030282	9.68	BMP2 ROR2
13	epithelial to mesenchymal transition	GO:0001837	9.68	BMP2 NOG
14	collagen catabolic process	GO:0030574	9.68	FURIN MMP3
15	mesoderm formation	GO:0001707	9.67	BMPR1A NOG
16	positive regulation of bone mineralization	GO:0030501	9.67	BMP2 BMPR1A BMPR1B
17	embryonic digit morphogenesis	GO:0042733	9.67	BMPR1A IHH NOG ROR2
18	endoderm development	GO:0007492	9.66	BMPR1A NOG
19	pituitary gland development	GO:0021983	9.66	BMPR1A NOG
20	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.65	BMP2 BMPR1A
21	positive regulation of mesenchymal cell proliferation	GO:0002053	9.65	BMPR1A IHH
22	positive regulation of chondrocyte differentiation	GO:0032332	9.65	BMPR1B GDF5
23	cartilage condensation	GO:0001502	9.64	BMPR1B ROR2
24	positive regulation of cartilage development	GO:0061036	9.63	BMP2 BMPR1B
25	somite development	GO:0061053	9.63	IHH NOG
26	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.63	BMPR1A BMPR1B GDF5
27	hindlimb morphogenesis	GO:0035137	9.62	BMPR1A GDF5
28	mesenchymal cell differentiation	GO:0048762	9.61	BMP2 NOG
29	pharyngeal arch artery morphogenesis	GO:0061626	9.61	BMPR1A NOG
30	endocardial cushion morphogenesis	GO:0003203	9.61	BMP2 BMPR1A NOG
31	proteoglycan metabolic process	GO:0006029	9.6	BMP2 IHH
32	ventricular compact myocardium morphogenesis	GO:0003223	9.59	BMPR1A NOG
33	BMP signaling pathway involved in heart development	GO:0061312	9.58	BMPR1A NOG
34	chondrocyte differentiation	GO:0002062	9.56	BMP2 BMPR1A BMPR1B GDF5
35	cellular response to BMP stimulus	GO:0071773	9.46	BMP2 BMPR1A BMPR1B NOG
36	BMP signaling pathway	GO:0030509	9.43	BMP2 BMPR1A BMPR1B GDF5 NOG ROR2
37	cartilage development	GO:0051216	9.1	BMP2 BMPR1A BMPR1B GDF5 IHH NOG
38	positive regulation of transcription by RNA polymerase II	GO:0045944	10.07	BMP2 BMPR1A BMPR1B IHH NOG
39	multicellular organism development	GO:0007275	10.07	BMP2 IHH NOG PAEP ROR2
40	cell differentiation	GO:0030154	10.04	BMP2 BMPR1A BMPR1B IHH NOG ROR2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	metal ion binding	GO:0046872	9.92	BMPR1A BMPR1B CYP2E1 FURIN IHH MMP3
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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Brachydactyly, Type A2:

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

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