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

Aliases & Classifications for Brachydactyly

Sources:
¹¹Disease Ontology, ¹³DISEASES, ²⁷GTR, ⁴⁸NIH Rare Diseases, ⁵⁰Novoseek, ⁶⁸UMLS
See all MalaCards sources

Aliases & Descriptions for Brachydactyly:

Name: Brachydactyly ¹¹ ⁴⁸ ²⁷ ⁵⁰ ¹³ ⁶⁸

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology¹¹ DOID:0050581

Summaries for Brachydactyly

Sources:
¹¹Disease Ontology, ³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁷¹Wikipedia
See all MalaCards sources

NIH Rare Diseases:⁴⁸ Brachydactyly is a general term characterized by disproportionately short fingers and toes. it can occur as an isolated finding or as part of a complex syndrome. many different types of brachydactyly have been identified. some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. the underlying genetic cause of most isolated forms of brachydactyly and many of the syndromic forms has been identified. many of the isolated forms are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. treatment depends on the specific type of brachydactyly, but may include plastic surgery, physical therapy and/or ergotherapy. last updated: 9/4/2013

MalaCards based summary: Brachydactyly is related to brachydactyly, type b2 and tarsal-carpal coalition syndrome, and has symptoms including brachydactyly syndrome, hand polydactyly and toe syndactyly. An important gene associated with Brachydactyly is GDF5 (Growth Differentiation Factor 5), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and G alpha (s) signalling events. Affiliated tissues include bone, heart and thyroid, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:¹¹ A dysostosis characterized by short fingers and toes.

Wikipedia:⁷¹ Brachydactyly (Greek Î²ÏÎ±ÏÏÏ = \"short\" plus Î´Î¬ÎºÏÏÎ»Î¿Ï =... more...

Related Diseases for Brachydactyly

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

Diseases in the Brachydactyly family:

Brachydactyly, Type D	Brachydactyly, Type A1
Brachydactyly, Type A2	Brachydactyly, Type A1, B
Brachydactyly, Type B1	Brachydactyly, Type E2
Brachydactyly, Type B2	Brachydactyly, Type C
Brachydactyly, Type A1, C	Brachydactyly, Type E
Brachydactyly, Type A4	Brachydactyly Type A3
Brachydactyly Type A1d	Brachydactyly Type A5
Brachydactyly Type A7	Hoxd13-Related Brachydactyly
Brachydactyly of Toes

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

(show top 50) (show all 268)

id	Related Disease	Score	Top Affiliating Genes
1	brachydactyly, type b2	33.3	NOG, ROR2
2	tarsal-carpal coalition syndrome	31.0	BMP2, BMPR1B, GDF5, NOG, ROR2
3	multiple synostoses syndrome	30.9	BMP2, BMPR1B, GDF5, NOG, ROR2
4	pseudohypoparathyroidism ic	30.9	GNAS, HDAC4
5	brachydactyly, type a1	12.2
6	brachydactyly, type a2	12.2
7	hypertension and brachydactyly syndrome	12.2
8	brachydactyly, type c	12.2
9	brachydactyly, type e	12.2
10	brachydactyly, type b1	12.2
11	temtamy preaxial brachydactyly syndrome	12.2
12	brachydactyly, type d	12.1
13	brachydactyly-syndactyly syndrome	12.1
14	brachydactyly, type a1, c	12.0
15	brachydactyly, type e2	12.0
16	brachydactyly type a3	12.0
17	brachydactyly, combined b and e types	12.0
18	brachydactyly type a1d	12.0
19	metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	12.0
20	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	12.0
21	digital arthropathy-brachydactyly, familial	11.9
22	brachydactyly, preaxial, with hallux varus and thumb abduction	11.9
23	brachydactyly, type a4	11.9
24	brachydactyly, mononen type	11.9
25	sugarman brachydactyly	11.9
26	brachydactyly, type a1, b	11.9
27	short stature, brachydactyly, intellectual developmental disability, and seizures	11.9
28	digital arthropathy-brachydactyly	11.8
29	uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly	11.7
30	ulnar/fibular ray defect and brachydactyly	11.7
31	cryptomicrotia-brachydactyly syndrome	11.7
32	hirschsprung disease with type d brachydactyly	11.7
33	long-thumb brachydactyly syndrome	11.7
34	brachydactyly anonychia	11.7
35	brachydactyly type a5	11.7
36	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	11.7
37	coloboma of macula with type b brachydactyly	11.7
38	brachydactyly elbow wrist dysplasia	11.7
39	brachydactyly type a7	11.7
40	du pan syndrome	11.6
41	exostoses with anetodermia and brachydactyly, type e	11.6
42	brachydactyly-nystagmus-cerebellar ataxia	11.6
43	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	11.6
44	liebenberg syndrome	11.6
45	thumbs, stiff, with brachydactyly type a1 and developmental delay	11.6
46	brachydactyly-distal symphalangism syndrome	11.6
47	robin sequence with distinctive facial appearance and brachydactyly	11.6
48	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	11.6
49	metaphyseal dysplasia maxillary hypoplasia brachydactyly	11.6
50	thumb stiff brachydactyly mental retardation	11.6

Graphical network of the top 20 diseases related to Brachydactyly:

Symptoms & Phenotypes for Brachydactyly

Sources:
⁴¹MGI, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Human phenotypes related to Brachydactyly:

⁶⁴ (show all 9)

id	Description	HPO Source Accession
1	brachydactyly syndrome⁶⁴	HP:0001156
2	hand polydactyly⁶⁴	HP:0001161
3	toe syndactyly⁶⁴	HP:0001770
4	short toe⁶⁴	HP:0001831
5	short stature⁶⁴	HP:0004322
6	finger syndactyly⁶⁴	HP:0006101
7	ulnar deviation of finger⁶⁴	HP:0009465
8	symphalangism affecting the phalanges of the hand⁶⁴	HP:0009773
9	short metacarpal⁶⁴	HP:0010049

MGI Mouse Phenotypes related to Brachydactyly according to GeneCards Suite gene sharing:

⁴¹ (show all 18)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.2	BMP2, COL2A1, GNAS, NOG, ROR2
2	renal/urinary system	MP:0005367	8.7	COL2A1, GNAS, HOXD13, NOG, PTCH1, PTHLH
3	muscle	MP:0005369	8.4	GNAS, HDAC4, HOXD13, IHH, NOG, PTCH1
4	integument	MP:0010771	8.4	GNAS, HDAC4, HOXD13, NOG, PTCH1, PTHLH
5	endocrine/exocrine gland	MP:0005379	8.0	BMPR1B, GNAS, HOXD13, IHH, NOG, PTCH1
6	embryo	MP:0005380	7.9	BMP2, BMPR1B, COL2A1, HOXD13, IHH, NOG
7	respiratory system	MP:0005388	7.9	COL2A1, GNAS, IHH, NOG, PTCH1, PTHLH
8	cellular	MP:0005384	7.6	BMP2, BMPR1B, GNAS, IHH, NOG, PTCH1
9	digestive/alimentary	MP:0005381	7.5	BMP2, COL2A1, HOXD13, IHH, NOG, PTCH1
10	cardiovascular system	MP:0005385	7.4	BMP2, COL2A1, GNAS, IHH, NOG, PTCH1
11	reproductive system	MP:0005389	7.2	BMP2, BMPR1B, GDF5, HOXD13, NOG, PDE3A
12	nervous system	MP:0003631	6.7	BMP2, BMPR1B, COL2A1, GNAS, HDAC4, IHH
13	vision/eye	MP:0005391	6.6	BMPR1B, CHSY1, COL2A1, HOXD13, IHH, NOG
14	craniofacial	MP:0005382	6.5	BMP2, BMPR1B, CHSY1, COL2A1, GNAS, HDAC4
15	limbs/digits/tail	MP:0005371	6.3	BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS
16	mortality/aging	MP:0010768	6.2	BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
17	growth/size/body region	MP:0005378	5.8	BMP2, BMPR1B, COL2A1, GDF5, GNAS, HDAC4
18	skeleton	MP:0005390	5.4	BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS

Drugs & Therapeutics for Brachydactyly

Sources:
⁴ClinicalTrials, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Study of Skeletal Disorders and Short Stature	Completed	NCT00001754
2	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Brachydactyly

Genetic Tests for Brachydactyly

Sources:
²⁷GTR
See all MalaCards sources

Genetic tests related to Brachydactyly:

id	Genetic test	Affiliating Genes
1	Brachydactyly Syndrome²⁷
2	Brachydactyly²⁷

Anatomical Context for Brachydactyly

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Brachydactyly:

³⁶

Bone, Heart, Thyroid, Myeloid, Testes

Publications for Brachydactyly

Sources:
⁵⁷PubMed
See all MalaCards sources

Articles related to Brachydactyly:

(show top 50) (show all 334)

id	Title	Authors	Year
1	Brachydactyly type E in an Italian family with 6p25 trisomy. (28111183)	Fontana P.... Pisanti M.A.	2017
2	Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. (27320764)	Ramassamy S.... George R.E.	2016
3	EP10.22: Look at the fetal hands: case of brachydactyly. (27645172)	Kaur L.... Kaur M.	2016
4	Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. (27115209)	Zhou L.... Wang J.	2016
5	Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. (26640227)	Thomas-Teinturier C.... de Nanclares G.P.	2016
6	Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. (27723096)	Zaragoza M.V.... Elliott A.M.	2016
7	Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene. (26763883)	Jamsheer A.... Latos-BieleA8ska A.	2016
8	Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. (27718516)	Kernohan K.D.... Chitayat D.	2016
9	Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. (26855372)	Reis M.T.... Martin R.M.	2016
10	A PDE3A mutation in familial hypertension and brachydactyly syndrome. (27053290)	Boda H.... Inagaki H.	2016
11	Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. (26733284)	FlAPttmann R.... Spielmann M.	2016
12	Hypotrichosis, milia, brachydactyly, and frenula. (26177262)	Jeskowiak A.... BAPhm M.	2015
13	Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)	Stange K.... Seemann P.	2015
14	RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. (26333564)	Mumtaz S.... Malik S.	2015
15	Concomitance of types D and E brachydactyly: a case report. (26698251)	TA1lay Koca T.... A8iledaA9 A9zdemir F.	2015
16	Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)	Wang J.... Zhang Q.	2015
17	Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. (25932455)	Jang M.A.... Ki C.S.	2015
18	Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)	Al-Qattan M.M.... Al Balwi M.A.	2015
19	Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (25758993)	Racacho L.... Bulman D.E.	2015
20	Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. (25776145)	Badura-Stronka M.... KozA8owski K.	2015
21	Mutation screening in candidate genes in four Chinese brachydactyly families. (25696018)	Dong S.... Zheng F.	2015
22	PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (25961942)	Maass P.G.... Baehring S.	2015
23	Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. (26283042)	Toka O.... Luft F.C.	2015
24	Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. (25756154)	MyA9liwiec M.... Midro A.T.	2015
25	The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. (25402011)	Jean-MarAsais N.... Plessis G.	2014
26	Brachydactyly and atrial septal defect: when the digits point to the heart. (25456580)	Siniorakis E.... Rentoukas E.	2014
27	A new mutation in the gene ROR2 causes brachydactyly type B1. (24954533)	Huang D.... He R.	2014
28	Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. (25092592)	Stange K.... Seemann P.	2014
29	Leukaemia cutis as the initial manifestation in a child with brachydactyly in chronic phase of chronic myeloid leukaemia. (25158808)	Wang S.... Wang W.	2014
30	Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. (25400355)	Chatterjee D.	2014
31	Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). (24710560)	Liu X.... Ma J.	2014
32	Gradual development of brachydactyly in pseudohypoparathyroidism. (24684469)	VirA!gh K.... TA^th M.	2014
33	Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)	Uyguner Z.O.... Kayserili H.	2014
34	A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. (24269551)	Sher G.... Naeem M.	2014
35	Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. (25311905)	Avela K.... Rauch F.	2014
36	Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. (23188045)	Villavicencio-Lorini P.... Horn D.	2013
37	Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. (23483675)	Seo S.H.... Seong M.W.	2013
38	Absence of nasal bone and brachydactyly: a probable new familial syndrome. (23810940)	Guo H.... Yang D.Y.	2013
39	Brachydactyly E: isolated or as a feature of a syndrome. (24028571)	Pereda A.... Perez de Nanclares G.	2013
40	Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. (23812741)	Farooq M.... Shimomura Y.	2013
41	Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. (24022874)	Williams K.D.... Williams-Blangero S.	2013
42	Embryology of familial (non-syndromic) brachydactyly of the hand. (24300509)	Al-Qattan M.M.	2013
43	Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly. (23892236)	Solomon L.A.... BAcrubAc N.G.	2013
44	The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. (23073310)	Leroy C.... Doco-Fenzy M.	2013
45	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (23290074)	Moffatt P.... Rauch F.	2013
46	Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. (24357125)	Oehl-Jaschkowitz B.... Tzschach A.	2013
47	A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. (23238279)	Habib R.... Ahmad W.	2013
48	Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. (23645122)	HacA+hamdioA9lu B.... Yesilkaya E.	2013
49	Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan. (24081602)	Saraya T.... Goto H.	2013
50	Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (22233338)	Jamsheer A.... Latos-BieleA8ska A.	2012

Genes related to Brachydactyly

Sources:
¹³DISEASES, ²¹GeneCards, ⁵⁰Novoseek
See all MalaCards sources

Genes related to Brachydactyly:

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	GDF5	Growth Differentiation Factor 5	66.16	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	17602228, 16532400
2	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	58.27	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries (show sections)	12919145, 19236432, 19640924 more 15952209, 12548386, 17632781, 18365018
3	IHH	Indian Hedgehog	55.67	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)
4	HOXD13	Homeobox D13	55.48	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Variants (show sections)	15643670, 11850178, 12620993 more 17236141
5	PTHLH	Parathyroid Hormone Like Hormone	55.03	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)
6	CHSY1	Chondroitin Sulfate Synthase 1	52.99	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)
7	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	45.20	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Variants (show sections)
8	GNAS	GNAS Complex Locus	44.79	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	15070926, 12970262, 9600732 more 12719376
9	HDAC4	Histone Deacetylase 4	44.60	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Gene name (show sections)
10	PDE3A	Phosphodiesterase 3A	44.38	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Variants (show sections)
11	NOG	Noggin	43.52	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Variants (show sections)
12	PRMT7	Protein Arginine Methyltransferase 7	41.94	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Variants (show sections)
13	COL2A1	Collagen Type II Alpha 1 Chain	41.69	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	12205109, 8024616, 15643621
14	BMP2	Bone Morphogenetic Protein 2	40.55	DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications, Summaries (show sections)
15	PTCH1	Patched 1	37.55	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	17632781
16	RUNX2	Runt Related Transcription Factor 2	35.60	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	11886988

Variations for Brachydactyly

Expression for genes affiliated with Brachydactyly

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

Search GEO for disease gene expression data for Brachydactyly.

Pathways for genes affiliated with Brachydactyly

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁵⁸QIAGEN, ⁵⁹R&D Systems, ⁶⁰Reactome, ⁶⁵Thomson Reuters
See all MalaCards sources

Pathways related to Brachydactyly according to GeneCards Suite gene sharing:

(show all 14)

id	Super pathways	Score	Top Affiliating Genes
1	Cardiomyocyte Differentiation through BMP Receptors⁵⁸	9.6	BMP2, BMPR1B
2	G alpha (s) signalling events⁶⁰	9.5	GNAS, PDE3A, PTHLH
3	Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway⁴²	9.3	BMP2, COL2A1
4	Signaling events mediated by the Hedgehog family⁴² Show member pathways Ligand-receptor interactions⁶⁰	9.1	IHH, PTCH1, PTHLH
5	TGF-beta signaling pathway (KEGG)³⁴ Show member pathways TGF-beta signaling pathway³⁴	8.9	BMP2, BMPR1B, GDF5, NOG
6	Presynaptic function of Kainate receptors⁶⁰ Show member pathways G-Protein Signaling through Tubby Protein⁵⁸ Glucagon-type ligand receptors⁶⁰ Class B/2 (Secretin family receptors)⁶⁰ Calcitonin-like ligand receptors⁶⁰ Activation of Ca-permeable Kainate Receptor⁶⁰ Activation of Kainate Receptors upon glutamate binding⁶⁰ Ionotropic activity of Kainate Receptors⁶⁰ G beta-gamma signalling through PLC beta⁶⁰ Activation of Na-permeable Kainate Receptors⁶⁰	8.8	GNAS, IHH, PTCH1, PTHLH
7	Human Embryonic Stem Cell Pluripotency⁵⁸ Show member pathways Factors Promoting Cardiogenesis in Vertebrates⁵⁸	8.8	BMP2, BMPR1B, GNAS, NOG
8	Signaling by BMP⁶⁰ Show member pathways BMP receptor signaling⁴² Bone Morphogenic Protein (BMP) Signalling and Regulation⁴²	8.6	BMP2, BMPR1B, NOG, RUNX2
9	Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways⁵⁹ Show member pathways Melanogenesis³⁴ Basal cell carcinoma³⁴	8.5	BMP2, GNAS, PTCH1, ROR2
10	Development_Hedgehog and PTH signaling pathways in bone and cartilage development⁶⁵	8.3	GNAS, IHH, PTCH1, PTHLH, RUNX2
11	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers⁵⁹	8.2	BMP2, COL2A1, GDF5, NOG, RUNX2
12	G-Beta Gamma Signaling⁵⁸ Show member pathways GHRH Signaling⁵⁸ CRHR Pathway⁵⁸ Relaxin Pathway⁵⁸ Hedgehog Signaling in Mammals⁵⁸	8.1	BMP2, GNAS, IHH, PDE3A, PTCH1
13	Endochondral Ossification⁴²	7.8	COL2A1, HDAC4, IHH, PTCH1, PTHLH, RUNX2
14	Activation of cAMP-Dependent PKA⁵⁸ Show member pathways Activation of PKA through GPCR⁵⁸ cAMP Pathway⁵⁸ PKA Signaling⁵⁸	7.6	BMP2, GDF5, GNAS, IHH, PDE3A, PTCH1

GO Terms for genes affiliated with Brachydactyly

Sources:
¹⁹Gene Ontology
See all MalaCards sources

Cellular components related to Brachydactyly according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	7.6	BMP2, CHSY1, COL2A1, GDF5, GNAS, IHH

Biological processes related to Brachydactyly according to GeneCards Suite gene sharing:

(show all 43)

id	Name	GO ID	Score	Top Affiliating Genes
1	male genitalia development	GO:0030539	10.8	HOXD13, ROR2
2	negative regulation of chondrocyte differentiation	GO:0032331	10.7	GDF5, PTHLH
3	regulation of protein binding	GO:0043393	10.3	HDAC4, PRMT7
4	embryonic skeletal joint morphogenesis	GO:0060272	10.3	COL2A1, NOG
5	positive regulation of cartilage development	GO:0061036	10.3	BMP2, BMPR1B
6	endocardial cushion morphogenesis	GO:0003203	10.2	BMP2, NOG
7	mesenchymal cell differentiation	GO:0048762	10.2	BMP2, NOG
8	hindlimb morphogenesis	GO:0035137	10.2	GDF5, PTCH1
9	cartilage condensation	GO:0001502	10.2	BMPR1B, COL2A1, ROR2
10	chondrocyte development	GO:0002063	10.1	BMPR1B, CHSY1, RUNX2
11	embryonic digit morphogenesis	GO:0042733	10.1	HOXD13, IHH, NOG, ROR2
12	osteoblast development	GO:0002076	10.1	HDAC4, PTHLH, RUNX2
13	negative regulation of multicellular organism growth	GO:0040015	10.1	GNAS, PTCH1
14	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	GO:1901522	10.0	BMP2, RUNX2
15	regulation of odontogenesis of dentin-containing tooth	GO:0042487	10.0	BMP2, RUNX2
16	tissue homeostasis	GO:0001894	10.0	COL2A1, GNAS
17	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	10.0	BMPR1B, GDF5
18	embryonic limb morphogenesis	GO:0030326	10.0	GDF5, HOXD13, PTCH1
19	SMAD protein signal transduction	GO:0060395	9.9	BMP2, GDF5, ROR2
20	positive regulation of chondrocyte differentiation	GO:0032332	9.9	BMPR1B, GDF5, IHH, RUNX2
21	cell-cell signaling	GO:0007267	9.9	BMP2, GDF5, IHH, PTHLH
22	negative regulation of smoothened signaling pathway	GO:0045879	9.9	PTCH1, RUNX2
23	endochondral ossification	GO:0001958	9.9	COL2A1, GNAS, RUNX2
24	proteoglycan metabolic process	GO:0006029	9.8	BMP2, COL2A1, IHH
25	pattern specification process	GO:0007389	9.7	HOXD13, NOG, PTCH1
26	dorsal/ventral pattern formation	GO:0009953	9.7	BMPR1B, NOG, PTCH1
27	negative regulation of osteoblast differentiation	GO:0045668	9.7	HDAC4, NOG, PTCH1
28	smoothened signaling pathway	GO:0007224	9.6	IHH, PTCH1, ROR2
29	ossification	GO:0001503	9.6	BMP2, COL2A1, RUNX2
30	positive regulation of osteoblast differentiation	GO:0045669	9.5	BMP2, BMPR1B, GNAS, RUNX2
31	osteoblast differentiation	GO:0001649	9.4	BMP2, IHH, NOG, RUNX2
32	somite development	GO:0061053	9.4	IHH, NOG, PTCH1
33	limb morphogenesis	GO:0035108	9.3	BMPR1B, COL2A1, HOXD13, PTCH1
34	response to drug	GO:0042493	9.2	GNAS, HDAC4, PDE3A, PTCH1
35	BMP signaling pathway	GO:0030509	9.2	BMP2, BMPR1B, NOG, ROR2, RUNX2
36	in utero embryonic development	GO:0001701	9.1	BMP2, IHH, NOG, PTCH1
37	chondrocyte differentiation	GO:0002062	9.1	BMP2, BMPR1B, COL2A1, GDF5, RUNX2
38	negative regulation of cell proliferation	GO:0008285	8.9	BMP2, HDAC4, PTCH1, PTHLH, ROR2
39	cellular response to BMP stimulus	GO:0071773	8.9	BMP2, BMPR1B, COL2A1, NOG, RUNX2
40	positive regulation of transcription, DNA-templated	GO:0045893	8.6	BMP2, HDAC4, PTCH1, ROR2, RUNX2
41	cartilage development	GO:0051216	8.6	BMP2, BMPR1B, CHSY1, COL2A1, GDF5, GNAS
42	positive regulation of transcription from RNA polymerase II promoter	GO:0045944	8.5	BMP2, BMPR1B, HDAC4, HOXD13, IHH, NOG
43	skeletal system development	GO:0001501	7.0	BMP2, BMPR1B, COL2A1, GNAS, HDAC4, HOXD13