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 73
Brachydactyly Type A1 12 76 53 59 15
Bda1 57 12 53 75
Farabee-Type Brachydactyly 57 75
Type A1 Brachydactyly 29 6
Brachydactyly 44 73
Brachydactyly, Farabee Type 59
Farabee Type Brachydactyly 12
Brachydactyly Farabee Type 53
Brachydactyly A1 75

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 heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 112500
Disease Ontology 12 DOID:0110964
Orphanet 59 ORPHA93388
MESH via Orphanet 45 C537088
UMLS via Orphanet 74 C1862151
ICD10 via Orphanet 34 Q73.8
MedGen 42 C1862151
MeSH 44 D059327

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: 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), 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 scoliosis and short stature

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 : 75 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 : 76 Brachydactyly (Greek βρα�?ύ�? = "short" plus δάκ�?�?λο�? = "finger"), is a medical term which literally... 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 317)
# Related Disease Score Top Affiliating Genes
1 fibular hypoplasia and complex brachydactyly 33.8 GDF5 BMPR1B
2 brachydactyly, type c 33.6 ROR2 GDF5 BMPR1B
3 brachydactyly, type b1 33.6 ROR2 PTCH1 IHH
4 brachydactyly, type a2 33.5 ROR2 IHH GDF5 BMPR1B
5 brachydactyly, type b2 33.5 ROR2 GDF5
6 multiple synostoses syndrome 31.5 GDF5 BMPR1B
7 chondrodysplasia, grebe type 31.4 GDF5 BMPR1B
8 muenke syndrome 31.1 PTCH1 IHH
9 brachydactyly 30.2 BDA1B BMPR1B ROR2 PTCH1 IHH GDF5
10 proximal symphalangism 29.5 ROR2 GDF5 BMPR1B
11 basal cell nevus syndrome 29.1 SHH ROR2 PTCH1 GAS1
12 brachydactyly, type a1, c 12.7
13 brachydactyly, type a1, d 12.6
14 brachydactyly, type e1 12.5
15 brachydactyly, type a1, b 12.5
16 hypertension and brachydactyly syndrome 12.5
17 temtamy preaxial brachydactyly syndrome 12.4
18 brachydactyly-syndactyly syndrome 12.4
19 brachydactyly, type d 12.4
20 brachydactyly, type e2 12.4
21 brachydactyly, type a3 12.4
22 digital arthropathy-brachydactyly, familial 12.3
23 brachydactyly, combined b and e types 12.3
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 12.2
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 brachydactyly, mononen type 12.2
38 short stature, brachydactyly, intellectual developmental disability, and seizures 12.2
39 brachydactyly type a7 12.2
40 brachydactyly type a5 12.1
41 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.1
42 metaphyseal dysplasia maxillary hypoplasia brachydactyly 12.1
43 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.0
44 ulnar/fibular ray defect and brachydactyly 12.0
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 11.9
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

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
short distal phalanges
short broad hands
short to absent middle phalanges
thin metacarpals with broad epiphyses
more
Skeletal Feet:
short proximal phalanx of halluces


Clinical features from OMIM:

112500

Human phenotypes related to Brachydactyly, Type A1:

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

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-2 9.44 ROR2
2 Decreased viability GR00221-A-3 9.44 BMPR1B ROR2 SHH
3 Decreased viability GR00221-A-4 9.44 ROR2
4 Decreased viability GR00231-A 9.44 ROR2
5 Decreased viability GR00301-A 9.44 BMPR1B
6 Decreased viability GR00342-S-1 9.44 BMPR1B ROR2
7 Decreased viability GR00342-S-3 9.44 ROR2
8 Decreased viability GR00402-S-2 9.44 BMPR1B ROR2 SHH

MGI Mouse Phenotypes related to Brachydactyly, Type A1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.05 BMPR1B CDON GAS1 IHH PTCH1 ROR2
2 craniofacial MP:0005382 10.04 BMPR1B CDON GAS1 IHH PTCH1 ROR2
3 growth/size/body region MP:0005378 10.03 BMPR1B CDON GAS1 GDF5 IHH PTCH1
4 cardiovascular system MP:0005385 10 CDON GAS1 IHH PTCH1 ROR2 SHH
5 embryo MP:0005380 10 BMPR1B CDON GAS1 IHH PTCH1 ROR2
6 limbs/digits/tail MP:0005371 9.97 BMPR1B CDON GAS1 GDF5 IHH PTCH1
7 mortality/aging MP:0010768 9.92 BMPR1B CDON GAS1 GDF5 IHH PTCH1
8 digestive/alimentary MP:0005381 9.88 CDON IHH PTCH1 ROR2 SHH
9 nervous system MP:0003631 9.8 BMPR1B CDON GAS1 IHH PTCH1 ROR2
10 hearing/vestibular/ear MP:0005377 9.71 GAS1 PTCH1 ROR2 SHH
11 respiratory system MP:0005388 9.63 CDON GAS1 IHH PTCH1 ROR2 SHH
12 skeleton MP:0005390 9.56 BMPR1B CDON GAS1 GDF5 IHH PTCH1
13 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 29 IHH

Anatomical Context for Brachydactyly, Type A1

MalaCards organs/tissues related to Brachydactyly, Type A1:

41
Bone, Heart, Pituitary

Publications for Brachydactyly, Type A1

Articles related to Brachydactyly, Type A1:

(show all 19)
# Title Authors Year
1
Severe Form of Brachydactyly Type A1 in a Child with a c.298Ga88>a88A Mutation in IHH Gene. ( 28794911 )
2017
2
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. ( 25932455 )
2015
3
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ( 25758993 )
2015
4
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. ( 22406540 )
2012
5
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. ( 21537345 )
2011
6
Brachydactyly type A1 with short humerus and associated skeletal features. ( 21077205 )
2010
7
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
8
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. ( 19464397 )
2009
9
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. ( 19806586 )
2009
10
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. ( 19504437 )
2009
11
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
12
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. ( 16871364 )
2006
13
Answering a century old riddle: brachydactyly type A1. ( 15225411 )
2004
14
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. ( 12566523 )
2003
15
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. ( 12525541 )
2003
16
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. ( 11897820 )
2002
17
A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. ( 12384778 )
2002
18
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. ( 10745048 )
2000
19
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:

75
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 BMPR1B GAS1 GDF5 IHH PTCH1 ROR2
2
Show member pathways
13.16 GAS1 GDF5 IHH PTCH1 ROR2
3
Show member pathways
12.09 CDON GAS1 IHH PTCH1 SHH
4
Show member pathways
12.03 IHH PTCH1 SHH
5 11.91 IHH PTCH1 SHH
6 11.82 BMPR1B PTCH1 SHH
7 11.7 CDON ROR2 SHH
8
Show member pathways
11.46 CDON GAS1 IHH PTCH1 SHH
9 11.34 IHH PTCH1
10 11.16 GDF5 SHH
11 11.02 IHH PTCH1 SHH
12
Show member pathways
10.5 CDON GAS1 IHH PTCH1 SHH
13 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 51)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.86 GDF5 IHH SHH
2 skeletal system development GO:0001501 9.79 BMPR1B IHH ROR2
3 BMP signaling pathway GO:0030509 9.72 BMPR1B GDF5 ROR2
4 negative regulation of cell differentiation GO:0045596 9.71 IHH SHH
5 negative regulation of epithelial cell proliferation GO:0050680 9.71 GDF5 PTCH1
6 cell development GO:0048468 9.71 GDF5 SHH
7 cartilage development GO:0051216 9.71 BMPR1B GDF5 IHH
8 heart looping GO:0001947 9.7 IHH SHH
9 SMAD protein signal transduction GO:0060395 9.7 GDF5 ROR2
10 positive regulation of cell differentiation GO:0045597 9.7 BMPR1B SHH
11 branching involved in ureteric bud morphogenesis GO:0001658 9.7 PTCH1 SHH
12 chondrocyte differentiation GO:0002062 9.69 BMPR1B GDF5
13 liver regeneration GO:0097421 9.69 IHH PTCH1
14 embryonic organ development GO:0048568 9.69 PTCH1 SHH
15 camera-type eye development GO:0043010 9.69 BMPR1B IHH SHH
16 positive regulation of smoothened signaling pathway GO:0045880 9.68 IHH SHH
17 developmental growth GO:0048589 9.68 GAS1 SHH
18 branching involved in blood vessel morphogenesis GO:0001569 9.68 IHH SHH
19 pancreas development GO:0031016 9.67 IHH SHH
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 IHH SHH
21 vasculature development GO:0001944 9.67 IHH SHH
22 response to mechanical stimulus GO:0009612 9.67 GDF5 IHH PTCH1
23 regulation of smoothened signaling pathway GO:0008589 9.66 GAS1 PTCH1
24 limb morphogenesis GO:0035108 9.66 BMPR1B PTCH1
25 renal system development GO:0072001 9.65 PTCH1 SHH
26 embryonic pattern specification GO:0009880 9.65 IHH SHH
27 positive regulation of chondrocyte differentiation GO:0032332 9.65 BMPR1B GDF5
28 cell fate commitment GO:0045165 9.65 GAS1 ROR2 SHH
29 spinal cord motor neuron differentiation GO:0021522 9.64 PTCH1 SHH
30 cartilage condensation GO:0001502 9.64 BMPR1B ROR2
31 male genitalia development GO:0030539 9.63 ROR2 SHH
32 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.63 BMPR1B GDF5
33 embryonic digit morphogenesis GO:0042733 9.63 IHH ROR2 SHH
34 embryonic digestive tract morphogenesis GO:0048557 9.62 IHH SHH
35 embryonic morphogenesis GO:0048598 9.61 CDON SHH
36 prostate gland development GO:0030850 9.61 PTCH1 SHH
37 embryonic limb morphogenesis GO:0030326 9.61 GDF5 PTCH1 SHH
38 striated muscle cell differentiation GO:0051146 9.6 CDON SHH
39 dorsal/ventral neural tube patterning GO:0021904 9.59 PTCH1 SHH
40 hindlimb morphogenesis GO:0035137 9.58 GDF5 PTCH1
41 positive regulation of alpha-beta T cell differentiation GO:0046638 9.58 IHH SHH
42 positive regulation of T cell differentiation in thymus GO:0033089 9.57 IHH SHH
43 positive regulation of skeletal muscle tissue development GO:0048643 9.56 CDON SHH
44 dorsal/ventral pattern formation GO:0009953 9.54 BMPR1B PTCH1 SHH
45 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.52 GDF5 SHH
46 cell fate specification GO:0001708 9.43 CDON IHH SHH
47 negative regulation of alpha-beta T cell differentiation GO:0046639 9.4 IHH SHH
48 somite development GO:0061053 9.33 IHH PTCH1 SHH
49 intein-mediated protein splicing GO:0016539 9.32 IHH SHH
50 pattern specification process GO:0007389 9.26 BMPR1B IHH PTCH1 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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