BDA1
MCID: BRC078
MIFTS: 56

Brachydactyly, Type A1 (BDA1)

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

Aliases & Classifications for Brachydactyly, Type A1

MalaCards integrated aliases for Brachydactyly, Type A1:

Name: Brachydactyly, Type A1 56 13 54 39 71
Brachydactyly Type A1 12 74 52 58 15
Bda1 56 12 52 73
Farabee-Type Brachydactyly 56 73
Type A1 Brachydactyly 29 6
Brachydactyly 43 71
Brachydactyly, Farabee Type 58
Farabee Type Brachydactyly 12
Brachydactyly Farabee Type 52
Brachydactyly A1 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type a1
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to acrocapitofemoral dysplasia


HPO:

31
brachydactyly, type a1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110964
OMIM 56 112500
MeSH 43 D059327
MESH via Orphanet 44 C537088
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1862151
Orphanet 58 ORPHA93388
MedGen 41 C1862151
UMLS 71 C0221357 C1862151

Summaries for Brachydactyly, Type A1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93388 Definition Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. Epidemiology Only a few pedigrees have been reported in the literature. Clinical description The proximal phalanges of the thumbs and big toes are short. BDA1 patients tend to be of short stature in adulthood. Etiology BDA1 may be caused by mutations in the Indian hedgehog gene (IHH ) located on chromosome 2q35-36. Another locus for this phenotype has been identified on chromosome 5p13.3-p13.2. Genetic counseling BDA1 is inherited as an autosomal dominant trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactyly, Type A1, also known as brachydactyly type a1, is related to brachydactyly, type a4 and brachydactyly, type b2. An important gene associated with Brachydactyly, Type A1 is IHH (Indian Hedgehog Signaling Molecule), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. Affiliated tissues include bone, heart and pituitary, and related phenotypes are short stature and short foot

Disease Ontology : 12 A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.

OMIM : 56 In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. (112500)

UniProtKB/Swiss-Prot : 73 Brachydactyly A1: 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. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant.

Wikipedia : 74 Brachydactyly (Greek ?????? = "short" plus ???????? = "finger"), is a medical term which literally means... more...

Related Diseases for Brachydactyly, Type A1

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 A1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 495)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a4 34.3 IHH HOXD13 GDF5
2 brachydactyly, type b2 34.2 NOG GDF5
3 brachydactyly, type b1 34.2 ROR2 NOG IHH GDF5
4 brachydactyly, type a1, c 34.1 NOG GDF6 GDF5-AS1 GDF5
5 fibular hypoplasia and complex brachydactyly 34.1 NOG GDF5-AS1 GDF5 BMPR1B
6 sugarman brachydactyly 33.6 NOG IHH HOXD13 GDF5 BMPR1B
7 brachydactyly, type a2 32.5 NOG IHH GDF6 GDF5 BMPR1B BMPR1A
8 acrocapitofemoral dysplasia 32.4 IHH DHH
9 chondrodysplasia, grebe type 32.3 GDF5 BMPR1B
10 brachydactyly, type a1, b 31.3 SDK1 PTCH1 NOG IHH HOXD13 GDF5
11 multiple synostoses syndrome 2 31.0 GDF5-AS1 GDF5
12 symphalangism, proximal, 1b 30.6 GDF5-AS1 GDF5
13 symphalangism, proximal, 1a 30.2 ROR2 NOG
14 synostosis 30.2 SHH NOG HOXD13 GDF5
15 odontochondrodysplasia 30.0 IHH GDF5 BMP2
16 craniosynostosis 29.7 PTCH1 NOG IHH BMP2
17 multiple synostoses syndrome 29.6 NOG GDF6 GDF5-AS1 GDF5 BMPR1B BMPR1A
18 exostosis 29.5 IHH GDF5 BMP2
19 coloboma of macula 29.3 SHH PTCH1 GDF6 CDON
20 chromosome 2q35 duplication syndrome 28.7 SHH PTCH1 NOG IHH HOXD13 GDF5
21 proximal symphalangism 28.6 ROR2 NOG GDF6 GDF5 BMPR1B BMPR1A
22 brachydactyly 28.1 SHH ROR2 PTCH1 NOG IHH HOXD13
23 basal cell nevus syndrome 28.0 SHH ROR2 PTCH1 IHH HIP1 GLI1
24 brachydactyly, type a1, d 12.9
25 brachydactyly, type e1 12.7
26 brachydactyly, type c 12.7
27 hypertension and brachydactyly syndrome 12.7
28 temtamy preaxial brachydactyly syndrome 12.6
29 brachydactyly-syndactyly syndrome 12.6
30 brachydactyly, combined b and e types 12.6
31 brachydactyly, type d 12.6
32 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.6
33 brachydactyly, type e2 12.6
34 brachydactyly, type a3 12.5
35 digital arthropathy-brachydactyly, familial 12.5
36 brachydactyly, preaxial, with hallux varus and thumb abduction 12.5
37 long-thumb brachydactyly syndrome 12.5
38 hirschsprung disease with type d brachydactyly 12.5
39 thumbs, stiff, with brachydactyly type a1 and developmental delay 12.5
40 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.5
41 coloboma of macula with type b brachydactyly 12.5
42 brachydactyly type a7 12.5
43 brachydactyly, mononen type 12.5
44 short stature, brachydactyly, intellectual developmental disability, and seizures 12.5
45 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.5
46 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.4
47 brachydactyly type a5 12.4
48 brachydactyly-distal symphalangism syndrome 12.4
49 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.4
50 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 12.4

Graphical network of the top 20 diseases related to Brachydactyly, Type A1:



Diseases related to Brachydactyly, Type A1

Symptoms & Phenotypes for Brachydactyly, Type A1

Human phenotypes related to Brachydactyly, Type A1:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
3 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
4 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
5 short middle phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0005819
6 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
7 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
9 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
10 hypoplasia of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0003022
11 broad metacarpals 58 31 occasional (7.5%) Occasional (29-5%) HP:0001230
12 distal symphalangism of hands 31 occasional (7.5%) HP:0001204
13 brachydactyly 31 HP:0001156
14 short metacarpal 31 HP:0010049
15 short palm 31 HP:0004279
16 short distal phalanx of finger 31 HP:0009882
17 broad palm 31 HP:0001169
18 absent distal interphalangeal creases 31 HP:0001032
19 radial deviation of the 2nd finger 31 HP:0009467
20 short proximal phalanx of hallux 31 HP:0010107
21 proportionate shortening of all digits 31 HP:0006165
22 slender metacarpals 31 HP:0006236
23 distal symphalangism (hands) 58 Occasional (29-5%)
24 flattened metatarsal heads 31 HP:0005194
25 broad metacarpal epiphyses 31 HP:0006146
26 thin proximal phalanges with broad epiphyses of the hand 31 HP:0006213
27 radial deviation of the 4th finger 31 HP:0009279
28 radial deviation of the 3rd finger 31 HP:0009462
29 short proximal phalanx of thumb 31 HP:0009638

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skin Nails Hair Skin:
absent distal interphalangeal creases

Skeletal Hands:
absent distal interphalangeal creases
proportionate shortening of all digits
short distal phalanges
short broad hands
short to absent middle phalanges
more
Skeletal Feet:
short proximal phalanx of halluces

Clinical features from OMIM:

112500

GenomeRNAi Phenotypes related to Brachydactyly, Type A1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.62 BMPR1A
2 Decreased viability GR00221-A-2 9.62 BMPR1A ROR2
3 Decreased viability GR00221-A-3 9.62 BMPR1A BMPR1B DHH ROR2 SHH
4 Decreased viability GR00221-A-4 9.62 BMPR1A ROR2
5 Decreased viability GR00231-A 9.62 ROR2
6 Decreased viability GR00301-A 9.62 BMPR1B
7 Decreased viability GR00342-S-1 9.62 BMPR1B ROR2
8 Decreased viability GR00342-S-3 9.62 ROR2
9 Decreased viability GR00402-S-2 9.62 BMPR1A BMPR1B DHH ROR2 SHH

MGI Mouse Phenotypes related to Brachydactyly, Type A1:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 BMP2 BMPR1A BMPR1B CDON GDF5 GDF6
2 cellular MP:0005384 10.35 BMP2 BMPR1A BMPR1B CDON GLI1 HIP1
3 craniofacial MP:0005382 10.34 BMP2 BMPR1A BMPR1B CDON GDF6 GLI1
4 mortality/aging MP:0010768 10.33 BMP2 BMPR1A BMPR1B CDON GDF5 GDF6
5 embryo MP:0005380 10.31 BMP2 BMPR1A BMPR1B CDON GDF5 GLI1
6 endocrine/exocrine gland MP:0005379 10.3 BMPR1A BMPR1B DHH GLI1 HIP1 HOXD13
7 limbs/digits/tail MP:0005371 10.29 BMP2 BMPR1A BMPR1B CDON GDF5 GDF6
8 digestive/alimentary MP:0005381 10.25 BMP2 CDON DHH GLI1 HOXD13 IHH
9 nervous system MP:0003631 10.25 BMP2 BMPR1A BMPR1B CDON DHH GDF6
10 hearing/vestibular/ear MP:0005377 10.1 BMP2 BMPR1A GDF6 NOG PTCH1 ROR2
11 reproductive system MP:0005389 10.07 BMP2 BMPR1A BMPR1B DHH GDF5 GLI1
12 normal MP:0002873 9.92 BMP2 BMPR1A BMPR1B GLI1 HIP1 NOG
13 neoplasm MP:0002006 9.91 ADAMTS12 BMPR1A GLI1 HIP1 PTCH1 SHH
14 no phenotypic analysis MP:0003012 9.91 GLI1 HOXD13 IHH PTCH1 SDK1 SHH
15 respiratory system MP:0005388 9.85 BMPR1A CDON GLI1 HIP1 IHH NOG
16 skeleton MP:0005390 9.8 BMP2 BMPR1A BMPR1B CDON GDF5 GDF6
17 vision/eye MP:0005391 9.36 BMPR1A BMPR1B CDON GDF6 HIP1 HOXD13

Drugs & Therapeutics for Brachydactyly, Type A1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
2 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Brachydactyly, Type A1

Cochrane evidence based reviews: brachydactyly

Genetic Tests for Brachydactyly, Type A1

Genetic tests related to Brachydactyly, Type A1:

# Genetic test Affiliating Genes
1 Type A1 Brachydactyly 29 IHH

Anatomical Context for Brachydactyly, Type A1

MalaCards organs/tissues related to Brachydactyly, Type A1:

40
Bone, Heart, Pituitary, Cerebellum, Skeletal Muscle, Pancreas, Thyroid

Publications for Brachydactyly, Type A1

Articles related to Brachydactyly, Type A1:

(show all 40)
# Title Authors PMID Year
1
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. 54 61 56 6
16871364 2006
2
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 54 61 56 6
12384778 2002
3
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. 61 56 6
18629882 2008
4
Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. 61 56 6
17486609 2007
5
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. 61 56 6
12525541 2003
6
A century later Farabee has his mutation. 56 6
15886999 2005
7
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 56 6
11455389 2001
8
FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED. 56 6
14043746 1963
9
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 61 6
25758993 2015
10
Brachydactyly type A1 with short humerus and associated skeletal features. 61 56
21077205 2010
11
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. 61 6
19252479 2009
12
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla. 61 6
18794898 2008
13
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. 61 6
12566523 2003
14
Evaluation of candidate genes for familial brachydactyly. 61 56
8592325 1995
15
Mutations in GDF5 presenting as semidominant brachydactyly A1. 6
20683927 2010
16
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. 6
19277064 2009
17
A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. 56
10712204 2000
18
[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 56
6631421 1983
19
Julia Bell. 56
86881 1979
20
Classification and identification of inherited brachydactylies. 56
469884 1979
21
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. 54 61
19504437 2009
22
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 61
30651074 2019
23
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. 61
29155992 2018
24
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1. 61
30574312 2018
25
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene. 61
28794911 2017
26
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. 61
25932455 2015
27
Mutation screening in candidate genes in four Chinese brachydactyly families. 61
25696018 2015
28
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 61
24098149 2013
29
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. 61
22406540 2012
30
A large duplication involving the IHH locus mimics acrocallosal syndrome. 61
22234151 2012
31
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. 61
21537345 2011
32
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. 61
20358606 2010
33
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. 61
20024692 2010
34
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. 61
19806586 2009
35
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. 61
19464397 2009
36
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. 61
15841179 2005
37
Answering a century old riddle: brachydactyly type A1. 61
15225411 2004
38
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. 61
11897820 2002
39
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. 61
10745048 2000
40
Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. 61
9546827 1998

Variations for Brachydactyly, Type A1

ClinVar genetic disease variations for Brachydactyly, Type A1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IHH NM_002181.4(IHH):c.389C>A (p.Thr130Asn)SNV Pathogenic 8876 rs267606872 2:219922343-219922343 2:219057621-219057621
2 IHH NM_002181.4(IHH):c.383G>A (p.Arg128Gln)SNV Pathogenic 8875 rs267606873 2:219922349-219922349 2:219057627-219057627
3 IHH IHH, 3-BP DEL, 283GAGdeletion Pathogenic 8874
4 IHH NM_002181.4(IHH):c.461C>T (p.Thr154Ile)SNV Pathogenic 8873 rs121917861 2:219922271-219922271 2:219057549-219057549
5 IHH NM_002181.4(IHH):c.284A>G (p.Glu95Gly)SNV Pathogenic 8872 rs121917859 2:219924906-219924906 2:219060184-219060184
6 IHH NM_002181.4(IHH):c.298G>A (p.Asp100Asn)SNV Pathogenic 8869 rs121917855 2:219924892-219924892 2:219060170-219060170
7 IHH NM_002181.4(IHH):c.300C>A (p.Asp100Glu)SNV Pathogenic 8868 rs121917854 2:219924890-219924890 2:219060168-219060168
8 IHH NM_002181.4(IHH):c.391G>A (p.Glu131Lys)SNV Pathogenic 8867 rs121917853 2:219922341-219922341 2:219057619-219057619
9 IHH NM_002181.4(IHH):c.283G>A (p.Glu95Lys)SNV Pathogenic 8866 rs121917852 2:219924907-219924907 2:219060185-219060185

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type A1:

73
# Symbol AA change Variation ID SNP ID
1 IHH p.Glu95Lys VAR_015982 rs121917852
2 IHH p.Asp100Glu VAR_015983 rs121917854
3 IHH p.Asp100Asn VAR_015984 rs121917855
4 IHH p.Glu131Lys VAR_015985 rs121917853

Expression for Brachydactyly, Type A1

Search GEO for disease gene expression data for Brachydactyly, Type A1.

Pathways for Brachydactyly, Type A1

Pathways related to Brachydactyly, Type A1 according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 STK36 ROR2 PTCH1 IHH GLI1 GDF6
2
Show member pathways
13.42 STK36 ROR2 PTCH1 IHH GLI1 GDF6
3
Show member pathways
12.91 STK36 PTCH1 IHH GLI1 DHH BMP2
4
Show member pathways
12.45 SHH PTCH1 IHH GLI1 DHH CDON
5
Show member pathways
12.41 SHH ROR2 PTCH1 GLI1 BMP2
6
Show member pathways
12.34 NOG BMPR1B BMPR1A BMP2
7
Show member pathways
12.29 SHH PTCH1 IHH DHH
8 12 SHH ROR2 CDON BMPR1A
9 11.99 GDF6 GDF5 BMPR1B BMPR1A BMP2
10 11.71 NOG GDF6 GDF5 BMPR1B BMPR1A BMP2
11
Show member pathways
11.62 NOG BMPR1B BMPR1A BMP2
12 11.56 PTCH1 IHH BMPR1A
13 11.42 SHH NOG GDF5
14 11.39 SHH BMPR1A BMP2
15 11.31 STK36 SHH PTCH1 GLI1
16 11.21 SHH PTCH1 IHH GLI1
17 11.13 SHH PTCH1 IHH GLI1 DHH CDON
18
Show member pathways
11.03 SHH PTCH1 IHH DHH CDON
19 11.01 BMPR1B BMPR1A BMP2
20 10.49 SHH PTCH1
21
Show member pathways
10.38 STK36 SHH PTCH1 IHH GLI1 DHH

GO Terms for Brachydactyly, Type A1

Cellular components related to Brachydactyly, Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.61 STK36 SHH NOG IHH GDF6 GDF5
2 HFE-transferrin receptor complex GO:1990712 8.62 BMPR1B BMPR1A

Biological processes related to Brachydactyly, Type A1 according to GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.22 ROR2 NOG IHH HIP1 GLI1 BMPR1B
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.21 SHH NOG IHH HOXD13 GLI1 CDON
3 multicellular organism development GO:0007275 10.19 STK36 SHH ROR2 NOG IHH HOXD13
4 positive regulation of transcription, DNA-templated GO:0045893 10.16 SHH ROR2 PTCH1 GLI1 GDF6 BMPR1A
5 regulation of apoptotic process GO:0042981 10.05 HIP1 GDF6 GDF5 BMP2
6 in utero embryonic development GO:0001701 10.05 PTCH1 NOG IHH BMPR1A BMP2
7 cell-cell signaling GO:0007267 10.04 SHH IHH GDF5 DHH BMP2
8 negative regulation of canonical Wnt signaling pathway GO:0090090 10 SHH ROR2 NOG GLI1 BMP2
9 anterior/posterior pattern specification GO:0009952 9.98 SHH HOXD13 CDON BMPR1A
10 positive regulation of neuron differentiation GO:0045666 9.96 GDF6 GDF5 CDON BMP2
11 skeletal system development GO:0001501 9.95 ROR2 NOG IHH HOXD13 BMPR1B BMP2
12 positive regulation of MAPK cascade GO:0043410 9.93 ROR2 CDON BMP2
13 response to estradiol GO:0032355 9.92 PTCH1 IHH DHH
14 lung development GO:0030324 9.92 SHH GLI1 BMPR1A
15 osteoblast differentiation GO:0001649 9.92 NOG IHH GLI1 DHH BMP2
16 cellular response to growth factor stimulus GO:0071363 9.91 BMPR1B BMPR1A BMP2
17 camera-type eye development GO:0043010 9.9 SHH IHH BMPR1B
18 response to mechanical stimulus GO:0009612 9.9 PTCH1 IHH GDF5
19 positive regulation of epithelial cell proliferation GO:0050679 9.9 NOG IHH BMPR1A
20 regulation of MAPK cascade GO:0043408 9.9 ROR2 GDF6 GDF5 BMP2
21 cell fate commitment GO:0045165 9.89 SHH ROR2 BMP2
22 negative regulation of cell differentiation GO:0045596 9.89 SHH NOG IHH
23 positive regulation of osteoblast differentiation GO:0045669 9.89 BMPR1B BMPR1A BMP2
24 odontogenesis of dentin-containing tooth GO:0042475 9.89 SHH BMPR1A BMP2
25 SMAD protein signal transduction GO:0060395 9.89 ROR2 GDF6 GDF5 BMP2
26 positive regulation of cell differentiation GO:0045597 9.88 SHH BMPR1B BMP2
27 embryonic limb morphogenesis GO:0030326 9.88 SHH PTCH1 HOXD13 GDF5
28 cell development GO:0048468 9.88 SHH GDF6 GDF5 BMP2
29 branching involved in ureteric bud morphogenesis GO:0001658 9.87 SHH PTCH1 BMP2
30 chondrocyte differentiation GO:0002062 9.87 BMPR1B BMPR1A BMP2
31 positive regulation of bone mineralization GO:0030501 9.87 BMPR1B BMPR1A BMP2
32 embryonic organ development GO:0048568 9.86 SHH PTCH1 BMPR1A
33 liver regeneration GO:0097421 9.85 PTCH1 IHH GLI1
34 pituitary gland development GO:0021983 9.85 NOG GLI1 BMPR1A
35 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.85 GDF6 GDF5 BMPR1A BMP2
36 cartilage development GO:0051216 9.85 NOG IHH GDF5 BMPR1B BMPR1A BMP2
37 limb morphogenesis GO:0035108 9.84 PTCH1 HOXD13 BMPR1B
38 positive regulation of smoothened signaling pathway GO:0045880 9.84 STK36 SHH IHH GLI1
39 positive regulation of mesenchymal cell proliferation GO:0002053 9.83 SHH IHH BMPR1A
40 positive regulation of chondrocyte differentiation GO:0032332 9.82 GDF6 GDF5 BMPR1B
41 embryonic morphogenesis GO:0048598 9.81 SHH CDON BMPR1A
42 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.81 GDF5 BMPR1B BMPR1A
43 cell fate specification GO:0001708 9.81 SHH IHH DHH CDON
44 male genitalia development GO:0030539 9.8 SHH ROR2 HOXD13
45 endocardial cushion morphogenesis GO:0003203 9.8 NOG BMPR1A BMP2
46 cellular response to BMP stimulus GO:0071773 9.8 NOG BMPR1B BMPR1A BMP2 ADAMTS12
47 pattern specification process GO:0007389 9.8 SHH PTCH1 NOG IHH HOXD13 BMPR1A
48 somite development GO:0061053 9.76 SHH PTCH1 NOG IHH
49 striated muscle cell differentiation GO:0051146 9.75 SHH CDON
50 anatomical structure formation involved in morphogenesis GO:0048646 9.75 SHH NOG

Molecular functions related to Brachydactyly, Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.43 BMPR1B BMPR1A BMP2
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 BMPR1B BMPR1A
3 transforming growth factor beta receptor activity, type I GO:0005025 9.16 BMPR1B BMPR1A
4 transforming growth factor beta receptor binding GO:0005160 9.13 GDF6 GDF5 BMP2
5 patched binding GO:0005113 8.92 SHH PTCH1 IHH DHH

Sources for Brachydactyly, Type A1

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