BDA1
MCID: BRC078
MIFTS: 54

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 57 13 55 40 72
Brachydactyly Type A1 12 75 53 59 15
Bda1 57 12 53 74
Farabee-Type Brachydactyly 57 74
Type A1 Brachydactyly 29 6
Brachydactyly 44 72
Brachydactyly, Farabee Type 59
Farabee Type Brachydactyly 12
Brachydactyly Farabee Type 53
Brachydactyly A1 74

Characteristics:

Orphanet epidemiological data:

59
brachydactyly type a1
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to acrocapitofemoral dysplasia ()


HPO:

32
brachydactyly, type a1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110964
OMIM 57 112500
MeSH 44 D059327
MESH via Orphanet 45 C537088
ICD10 via Orphanet 34 Q73.8
UMLS via Orphanet 73 C1862151
Orphanet 59 ORPHA93388
MedGen 42 C1862151
UMLS 72 C0221357 C1862151

Summaries for Brachydactyly, Type A1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93388DefinitionBrachydactyly 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.EpidemiologyOnly a few pedigrees have been reported in the literature.Clinical descriptionThe proximal phalanges of the thumbs and big toes are short. BDA1 patients tend to be of short stature in adulthood.EtiologyBDA1 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 counselingBDA1 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 fibular hypoplasia and complex brachydactyly 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 Signaling by GPCR and ERK Signaling. Affiliated tissues include bone and heart, 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 : 57 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 : 74 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 : 75 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 482)
# Related Disease Score Top Affiliating Genes
1 fibular hypoplasia and complex brachydactyly 34.5 GDF5 BMPR1B
2 brachydactyly, type b2 34.1 ROR2 GDF5
3 brachydactyly, type c 34.0 ROR2 GDF5 BMPR1B
4 brachydactyly, type b1 33.9 ROR2 PTCH1 IHH
5 brachydactyly, type a2 33.6 ROR2 IHH GDF5 BMPR1B
6 chondrodysplasia, grebe type 32.5 GDF5 BMPR1B
7 muenke syndrome 31.6 PTCH1 IHH
8 multiple synostoses syndrome 30.5 GDF5 BMPR1B
9 proximal symphalangism 30.2 ROR2 GDF5 BMPR1B
10 brachydactyly 29.5 ROR2 PTCH1 IHH GDF5 BMPR1B BDA1B
11 basal cell carcinoma 29.3 SHH PTCH1 GLI1
12 basal cell nevus syndrome 27.6 SHH ROR2 PTCH1 GLI1 GAS1
13 brachydactyly, type a1, d 12.9
14 brachydactyly, type a1, c 12.8
15 brachydactyly, type a1, b 12.8
16 brachydactyly, type e1 12.7
17 hypertension and brachydactyly syndrome 12.7
18 brachydactyly-syndactyly syndrome 12.6
19 temtamy preaxial brachydactyly syndrome 12.6
20 brachydactyly, combined b and e types 12.6
21 brachydactyly, type d 12.6
22 brachydactyly, type e2 12.5
23 brachydactyly, type a4 12.5
24 brachydactyly, type a3 12.5
25 digital arthropathy-brachydactyly, familial 12.5
26 brachydactyly, preaxial, with hallux varus and thumb abduction 12.5
27 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.5
28 sugarman brachydactyly 12.5
29 hirschsprung disease with type d brachydactyly 12.5
30 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.5
31 coloboma of macula with type b brachydactyly 12.5
32 long-thumb brachydactyly syndrome 12.4
33 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.4
34 brachydactyly, mononen type 12.4
35 short stature, brachydactyly, intellectual developmental disability, and seizures 12.4
36 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.4
37 brachydactyly type a7 12.4
38 thumbs, stiff, with brachydactyly type a1 and developmental delay 12.4
39 brachydactyly elbow wrist dysplasia 12.4
40 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.4
41 cryptomicrotia-brachydactyly syndrome 12.4
42 brachydactyly type a5 12.2
43 metaphyseal dysplasia maxillary hypoplasia brachydactyly 12.2
44 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.2
45 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.2
46 exostoses with anetodermia and brachydactyly, type e 12.2
47 ulnar/fibular ray defect and brachydactyly 12.2
48 robin sequence with distinctive facial appearance and brachydactyly 12.2
49 chromosome 2q37 deletion syndrome 12.2
50 brachydactyly-distal symphalangism syndrome 12.2

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
3 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
4 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
5 short middle phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0005819
6 cone-shaped epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0010579
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
9 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
10 hypoplasia of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0003022
11 broad metacarpals 59 32 occasional (7.5%) Occasional (29-5%) HP:0001230
12 distal symphalangism of hands 32 occasional (7.5%) HP:0001204
13 short palm 32 HP:0004279
14 brachydactyly 32 HP:0001156
15 short distal phalanx of finger 32 HP:0009882
16 short metacarpal 32 HP:0010049
17 broad palm 32 HP:0001169
18 absent distal interphalangeal creases 32 HP:0001032
19 radial deviation of the 2nd finger 32 HP:0009467
20 short proximal phalanx of hallux 32 HP:0010107
21 proportionate shortening of all digits 32 HP:0006165
22 slender metacarpals 32 HP:0006236
23 distal symphalangism (hands) 59 Occasional (29-5%)
24 flattened metatarsal heads 32 HP:0005194
25 broad metacarpal epiphyses 32 HP:0006146
26 thin proximal phalanges with broad epiphyses of the hand 32 HP:0006213
27 radial deviation of the 4th finger 32 HP:0009279
28 radial deviation of the 3rd finger 32 HP:0009462
29 short proximal phalanx of thumb 32 HP:0009638

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Brachydactyly, Type A1:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 BMPR1B CDON GAS1 GLI1 IHH PTCH1
2 craniofacial MP:0005382 10.13 BMPR1B CDON GAS1 GLI1 IHH PTCH1
3 growth/size/body region MP:0005378 10.11 BMPR1B CDON GAS1 GDF5 GLI1 IHH
4 embryo MP:0005380 10.1 BMPR1B CDON GAS1 GLI1 IHH PTCH1
5 limbs/digits/tail MP:0005371 10.06 BMPR1B CDON GAS1 GDF5 GLI1 IHH
6 cardiovascular system MP:0005385 10.02 CDON GAS1 IHH PTCH1 ROR2 SHH
7 mortality/aging MP:0010768 10.02 BMPR1B CDON GAS1 GDF5 GLI1 IHH
8 digestive/alimentary MP:0005381 9.99 CDON GLI1 IHH PTCH1 ROR2 SHH
9 endocrine/exocrine gland MP:0005379 9.95 BMPR1B GLI1 IHH PTCH1 ROR2 SHH
10 nervous system MP:0003631 9.92 BMPR1B CDON GAS1 GLI1 IHH PTCH1
11 hearing/vestibular/ear MP:0005377 9.73 GAS1 PTCH1 ROR2 SHH
12 reproductive system MP:0005389 9.73 BMPR1B GDF5 GLI1 PTCH1 ROR2 SHH
13 respiratory system MP:0005388 9.7 CDON GAS1 GLI1 IHH PTCH1 ROR2
14 skeleton MP:0005390 9.56 BMPR1B CDON GAS1 GDF5 IHH PTCH1
15 vision/eye MP:0005391 9.17 BMPR1B CDON GAS1 IHH PTCH1 ROR2

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:

41
Bone, Heart

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. 9 38 8 71
16871364 2006
2
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 9 38 8 71
12384778 2002
3
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. 38 8 71
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. 38 8 71
17486609 2007
5
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. 38 8 71
12525541 2003
6
A century later Farabee has his mutation. 8 71
15886999 2005
7
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 8 71
11455389 2001
8
FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED. 8 71
14043746 1963
9
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 38 71
25758993 2015
10
Brachydactyly type A1 with short humerus and associated skeletal features. 38 8
21077205 2010
11
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. 38 71
19252479 2009
12
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla. 38 71
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. 38 71
12566523 2003
14
Evaluation of candidate genes for familial brachydactyly. 38 8
8592325 1995
15
Mutations in GDF5 presenting as semidominant brachydactyly A1. 71
20683927 2010
16
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. 71
19277064 2009
17
A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. 8
10712204 2000
18
[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 8
6631421 1983
19
Julia Bell. 8
86881 1979
20
Classification and identification of inherited brachydactylies. 8
469884 1979
21
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. 9 38
19504437 2009
22
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 38
30651074 2019
23
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. 38
29155992 2018
24
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1. 38
30574312 2018
25
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene. 38
28794911 2017
26
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. 38
25932455 2015
27
Mutation screening in candidate genes in four Chinese brachydactyly families. 38
25696018 2015
28
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 38
24098149 2013
29
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. 38
22406540 2012
30
A large duplication involving the IHH locus mimics acrocallosal syndrome. 38
22234151 2012
31
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. 38
21537345 2011
32
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. 38
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. 38
20024692 2010
34
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. 38
19806586 2009
35
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. 38
19464397 2009
36
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. 38
15841179 2005
37
Answering a century old riddle: brachydactyly type A1. 38
15225411 2004
38
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. 38
11897820 2002
39
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. 38
10745048 2000
40
Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. 38
9546827 1998

Variations for Brachydactyly, Type A1

ClinVar genetic disease variations for Brachydactyly, Type A1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IHH NM_002181.4(IHH): c.283G> A (p.Glu95Lys) single nucleotide variant Pathogenic rs121917852 2:219924907-219924907 2:219060185-219060185
2 IHH NM_002181.4(IHH): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs121917853 2:219922341-219922341 2:219057619-219057619
3 IHH NM_002181.4(IHH): c.300C> A (p.Asp100Glu) single nucleotide variant Pathogenic rs121917854 2:219924890-219924890 2:219060168-219060168
4 IHH NM_002181.4(IHH): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs121917855 2:219924892-219924892 2:219060170-219060170
5 IHH NM_002181.4(IHH): c.284A> G (p.Glu95Gly) single nucleotide variant Pathogenic rs121917859 2:219924906-219924906 2:219060184-219060184
6 IHH NM_002181.4(IHH): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs121917861 2:219922271-219922271 2:219057549-219057549
7 IHH IHH, 3-BP DEL, 283GAG deletion Pathogenic
8 IHH NM_002181.4(IHH): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs267606873 2:219922349-219922349 2:219057627-219057627
9 IHH NM_002181.4(IHH): c.389C> A (p.Thr130Asn) single nucleotide variant Pathogenic rs267606872 2:219922343-219922343 2:219057621-219057621

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

74
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 SHH ROR2 PTCH1 IHH GLI1 GAS1
2
Show member pathways
13.42 ROR2 PTCH1 IHH GLI1 GDF5 GAS1
3
Show member pathways
13.05 ROR2 PTCH1 IHH GLI1 GDF5 GAS1
4
Show member pathways
12.17 SHH PTCH1 IHH GLI1 GAS1 CDON
5
Show member pathways
12.11 SHH PTCH1 IHH
6
Show member pathways
12.1 SHH PTCH1 GLI1
7 11.98 SHH PTCH1 IHH
8 11.91 SHH PTCH1 GLI1
9 11.89 SHH PTCH1 BMPR1B
10 11.7 SHH ROR2 CDON
11 11.23 SHH GDF5
12 11 SHH GLI1
13 10.85 SHH PTCH1 IHH GLI1
14
Show member pathways
10.5 SHH PTCH1 IHH GAS1 CDON
15 10.16 SHH PTCH1

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 plasma membrane GO:0005886 9.23 SHH ROR2 PTCH1 IHH GDF5 GAS1

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.88 SHH IHH GDF5
2 skeletal system development GO:0001501 9.83 ROR2 IHH BMPR1B
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.82 SHH ROR2 GLI1
4 BMP signaling pathway GO:0030509 9.77 ROR2 GDF5 BMPR1B
5 cartilage development GO:0051216 9.77 IHH GDF5 BMPR1B
6 response to mechanical stimulus GO:0009612 9.75 PTCH1 IHH GDF5
7 camera-type eye development GO:0043010 9.74 SHH IHH BMPR1B
8 cell fate commitment GO:0045165 9.73 SHH ROR2 GAS1
9 embryonic digit morphogenesis GO:0042733 9.72 SHH ROR2 IHH
10 positive regulation of cell differentiation GO:0045597 9.71 SHH BMPR1B
11 branching involved in ureteric bud morphogenesis GO:0001658 9.71 SHH PTCH1
12 embryonic limb morphogenesis GO:0030326 9.71 SHH PTCH1 GDF5
13 embryonic organ development GO:0048568 9.7 SHH PTCH1
14 developmental growth GO:0048589 9.7 SHH GAS1
15 pancreas development GO:0031016 9.7 SHH IHH
16 branching involved in blood vessel morphogenesis GO:0001569 9.69 SHH IHH
17 vasculature development GO:0001944 9.69 SHH IHH
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.69 SHH IHH
19 renal system development GO:0072001 9.68 SHH PTCH1
20 limb morphogenesis GO:0035108 9.68 PTCH1 BMPR1B
21 spinal cord motor neuron differentiation GO:0021522 9.68 SHH PTCH1
22 positive regulation of chondrocyte differentiation GO:0032332 9.67 GDF5 BMPR1B
23 embryonic pattern specification GO:0009880 9.67 SHH IHH
24 cartilage condensation GO:0001502 9.67 ROR2 BMPR1B
25 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.66 GDF5 BMPR1B
26 male genitalia development GO:0030539 9.66 SHH ROR2
27 embryonic digestive tract morphogenesis GO:0048557 9.65 SHH IHH
28 embryonic morphogenesis GO:0048598 9.65 SHH CDON
29 liver regeneration GO:0097421 9.65 PTCH1 IHH GLI1
30 striated muscle cell differentiation GO:0051146 9.64 SHH CDON
31 digestive tract morphogenesis GO:0048546 9.63 SHH GLI1
32 dorsal/ventral neural tube patterning GO:0021904 9.63 SHH PTCH1
33 hindlimb morphogenesis GO:0035137 9.62 PTCH1 GDF5
34 positive regulation of T cell differentiation in thymus GO:0033089 9.62 SHH IHH
35 positive regulation of alpha-beta T cell differentiation GO:0046638 9.61 SHH IHH
36 positive regulation of skeletal muscle tissue development GO:0048643 9.61 SHH CDON
37 positive regulation of smoothened signaling pathway GO:0045880 9.61 SHH IHH GLI1
38 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.58 SHH GDF5
39 regulation of smoothened signaling pathway GO:0008589 9.58 PTCH1 GLI1 GAS1
40 cell fate specification GO:0001708 9.54 SHH IHH CDON
41 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.52 SHH GLI1
42 ventral midline development GO:0007418 9.51 SHH GLI1
43 somite development GO:0061053 9.5 SHH PTCH1 IHH
44 negative regulation of alpha-beta T cell differentiation GO:0046639 9.49 SHH IHH
45 intein-mediated protein splicing GO:0016539 9.46 SHH IHH
46 pattern specification process GO:0007389 9.46 SHH PTCH1 IHH BMPR1B
47 prostate gland development GO:0030850 9.43 SHH PTCH1 GLI1
48 chondrocyte differentiation GO:0002062 9.41 BMPR1B
49 dorsal/ventral pattern formation GO:0009953 9.26 SHH PTCH1 GLI1 BMPR1B
50 smoothened signaling pathway GO:0007224 9.1 SHH ROR2 PTCH1 IHH GLI1 CDON

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.8 SHH PTCH1 IHH

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....