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 58 13 56 41 74
Brachydactyly Type A1 12 77 54 60 15
Bda1 58 12 54 76
Farabee-Type Brachydactyly 58 76
Type A1 Brachydactyly 30 6
Brachydactyly 45 74
Brachydactyly, Farabee Type 60
Farabee Type Brachydactyly 12
Brachydactyly Farabee Type 54
Brachydactyly A1 76

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type a1
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to acrocapitofemoral dysplasia


HPO:

33
brachydactyly, type a1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110964
OMIM 58 112500
MeSH 45 D059327
MESH via Orphanet 46 C537088
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1862151
Orphanet 60 ORPHA93388
MedGen 43 C1862151

Summaries for Brachydactyly, Type A1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93388Disease definitionBrachydactyly 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 dominanttrait.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 c. 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 : 58 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 : 76 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 : 77 Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "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 322)
# Related Disease Score Top Affiliating Genes
1 fibular hypoplasia and complex brachydactyly 34.0 BMPR1B GDF5
2 brachydactyly, type c 33.8 ROR2 GDF5 BMPR1B
3 brachydactyly, type b1 33.7 ROR2 PTCH1 IHH
4 brachydactyly, type b2 33.6 ROR2 GDF5
5 brachydactyly, type a2 33.6 BMPR1B GDF5 IHH ROR2
6 multiple synostoses syndrome 31.6 BMPR1B GDF5
7 chondrodysplasia, grebe type 31.6 BMPR1B GDF5
8 muenke syndrome 31.2 IHH PTCH1
9 brachydactyly 30.1 ROR2 PTCH1 IHH GDF5 BMPR1B BDA1B
10 proximal symphalangism 29.7 ROR2 GDF5 BMPR1B
11 basal cell nevus syndrome 28.3 SHH ROR2 PTCH1 GLI1 GAS1
12 brachydactyly, type a1, c 12.7
13 brachydactyly, type a1, d 12.7
14 brachydactyly, type e1 12.6
15 brachydactyly, type a1, b 12.6
16 hypertension and brachydactyly syndrome 12.5
17 brachydactyly-syndactyly syndrome 12.5
18 temtamy preaxial brachydactyly syndrome 12.5
19 brachydactyly, type d 12.4
20 brachydactyly, type e2 12.4
21 brachydactyly, type a3 12.4
22 digital arthropathy-brachydactyly, familial 12.4
23 brachydactyly, combined b and e types 12.4
24 brachydactyly, preaxial, with hallux varus and thumb abduction 12.3
25 sugarman brachydactyly 12.3
26 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.3
27 coloboma of macula with type b brachydactyly 12.3
28 brachydactyly, type a4 12.3
29 hirschsprung disease with type d brachydactyly 12.3
30 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
31 thumbs, stiff, with brachydactyly type a1 and developmental delay 12.3
32 brachydactyly elbow wrist dysplasia 12.3
33 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.2
34 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.2
35 cryptomicrotia-brachydactyly syndrome 12.2
36 long-thumb brachydactyly syndrome 12.2
37 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.2
38 brachydactyly, mononen type 12.2
39 short stature, brachydactyly, intellectual developmental disability, and seizures 12.2
40 brachydactyly type a7 12.2
41 brachydactyly type a5 12.1
42 metaphyseal dysplasia maxillary hypoplasia brachydactyly 12.1
43 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.1
44 ulnar/fibular ray defect and brachydactyly 12.1
45 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 12.0
46 brachydactyly anonychia 12.0
47 chromosome 2q37 deletion syndrome 12.0
48 brachydactyly, coloboma, and anterior segment dysgenesis 12.0
49 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 12.0
50 liebenberg syndrome 11.9

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
3 short hallux 60 33 hallmark (90%) Very frequent (99-80%) HP:0010109
4 short thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0009778
5 short middle phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0005819
6 cone-shaped epiphysis 60 33 frequent (33%) Frequent (79-30%) HP:0010579
7 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
8 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
9 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
10 hypoplasia of the ulna 60 33 occasional (7.5%) Occasional (29-5%) HP:0003022
11 broad metacarpals 60 33 occasional (7.5%) Occasional (29-5%) HP:0001230
12 distal symphalangism of hands 33 occasional (7.5%) HP:0001204
13 short palm 33 HP:0004279
14 brachydactyly 33 HP:0001156
15 short distal phalanx of finger 33 HP:0009882
16 short metacarpal 33 HP:0010049
17 broad palm 33 HP:0001169
18 radial deviation of the 2nd finger 33 HP:0009467
19 short proximal phalanx of hallux 33 HP:0010107
20 absent distal interphalangeal creases 33 HP:0001032
21 proportionate shortening of all digits 33 HP:0006165
22 slender metacarpals 33 HP:0006236
23 distal symphalangism (hands) 60 Occasional (29-5%)
24 flattened metatarsal heads 33 HP:0005194
25 broad metacarpal epiphyses 33 HP:0006146
26 thin proximal phalanges with broad epiphyses of the hand 33 HP:0006213
27 radial deviation of the 4th finger 33 HP:0009279
28 radial deviation of the 3rd finger 33 HP:0009462
29 short proximal phalanx of thumb 33 HP:0009638

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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

Search Clinical Trials , 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 30 IHH

Anatomical Context for Brachydactyly, Type A1

MalaCards organs/tissues related to Brachydactyly, Type A1:

42
Bone, Heart

Publications for Brachydactyly, Type A1

Articles related to Brachydactyly, Type A1:

(show all 21)
# Title Authors Year
1
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. ( 30651074 )
2019
2
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1. ( 30574312 )
2018
3
Severe Form of Brachydactyly Type A1 in a Child with a c.298Ga88>a88A Mutation in IHH Gene. ( 28794911 )
2017
4
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. ( 25932455 )
2015
5
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ( 25758993 )
2015
6
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. ( 22406540 )
2012
7
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. ( 21537345 )
2011
8
Brachydactyly type A1 with short humerus and associated skeletal features. ( 21077205 )
2010
9
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. ( 20024692 )
2010
10
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. ( 19464397 )
2009
11
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. ( 19806586 )
2009
12
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. ( 19504437 )
2009
13
Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. ( 17486609 )
2007
14
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. ( 16871364 )
2006
15
Answering a century old riddle: brachydactyly type A1. ( 15225411 )
2004
16
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. ( 12566523 )
2003
17
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. ( 12525541 )
2003
18
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. ( 11897820 )
2002
19
A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. ( 12384778 )
2002
20
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. ( 10745048 )
2000
21
Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. ( 9546827 )
1998

Variations for Brachydactyly, Type A1

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

76
# 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

ClinVar genetic disease variations for Brachydactyly, Type A1:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 IHH NM_002181.3(IHH): c.283G> A (p.Glu95Lys) single nucleotide variant Pathogenic rs121917852 GRCh37 Chromosome 2, 219924907: 219924907
2 IHH NM_002181.3(IHH): c.283G> A (p.Glu95Lys) single nucleotide variant Pathogenic rs121917852 GRCh38 Chromosome 2, 219060185: 219060185
3 IHH NM_002181.3(IHH): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs121917853 GRCh37 Chromosome 2, 219922341: 219922341
4 IHH NM_002181.3(IHH): c.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs121917853 GRCh38 Chromosome 2, 219057619: 219057619
5 IHH NM_002181.3(IHH): c.300C> A (p.Asp100Glu) single nucleotide variant Pathogenic rs121917854 GRCh37 Chromosome 2, 219924890: 219924890
6 IHH NM_002181.3(IHH): c.300C> A (p.Asp100Glu) single nucleotide variant Pathogenic rs121917854 GRCh38 Chromosome 2, 219060168: 219060168
7 IHH NM_002181.3(IHH): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs121917855 GRCh37 Chromosome 2, 219924892: 219924892
8 IHH NM_002181.3(IHH): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs121917855 GRCh38 Chromosome 2, 219060170: 219060170
9 IHH NM_002181.3(IHH): c.284A> G (p.Glu95Gly) single nucleotide variant Pathogenic rs121917859 GRCh37 Chromosome 2, 219924906: 219924906
10 IHH NM_002181.3(IHH): c.284A> G (p.Glu95Gly) single nucleotide variant Pathogenic rs121917859 GRCh38 Chromosome 2, 219060184: 219060184
11 IHH NM_002181.3(IHH): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs121917861 GRCh37 Chromosome 2, 219922271: 219922271
12 IHH NM_002181.3(IHH): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs121917861 GRCh38 Chromosome 2, 219057549: 219057549
13 IHH IHH, 3-BP DEL, 283GAG deletion Pathogenic
14 IHH NM_002181.3(IHH): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs267606873 GRCh37 Chromosome 2, 219922349: 219922349
15 IHH NM_002181.3(IHH): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs267606873 GRCh38 Chromosome 2, 219057627: 219057627
16 IHH NM_002181.3(IHH): c.389C> A (p.Thr130Asn) single nucleotide variant Pathogenic rs267606872 GRCh37 Chromosome 2, 219922343: 219922343
17 IHH NM_002181.3(IHH): c.389C> A (p.Thr130Asn) single nucleotide variant Pathogenic rs267606872 GRCh38 Chromosome 2, 219057621: 219057621

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 BMPR1B CDON GAS1 GLI1 IHH PTCH1
2
Show member pathways
13.45 BMPR1B GAS1 GDF5 GLI1 IHH PTCH1
3
Show member pathways
13.1 GAS1 GDF5 GLI1 IHH PTCH1 ROR2
4
Show member pathways
12.27 CDON GAS1 GLI1 IHH PTCH1 SHH
5
Show member pathways
12.12 IHH PTCH1 SHH
6
Show member pathways
12.12 GLI1 PTCH1 SHH
7 11.99 IHH PTCH1 SHH
8 11.93 GLI1 PTCH1 SHH
9 11.91 BMPR1B PTCH1 SHH
10 11.74 CDON ROR2 SHH
11
Show member pathways
11.54 CDON GAS1 GLI1 IHH PTCH1 SHH
12 11.24 GDF5 SHH
13 11.05 GLI1 IHH PTCH1 SHH
14 11.01 GLI1 SHH
15
Show member pathways
10.54 CDON GAS1 IHH PTCH1 SHH
16 10.22 PTCH1 SHH

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 BMPR1B CDON GAS1 GDF5 IHH PTCH1

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

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 IHH PTCH1 SHH

Sources for Brachydactyly, Type A1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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