MCID: BRC078
MIFTS: 49

Brachydactyly, Type A1

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

Aliases & Classifications for Brachydactyly, Type A1

MalaCards integrated aliases for Brachydactyly, Type A1:

Name: Brachydactyly, Type A1 53 13 51 69
Brachydactyly Type A1 12 72 49 55 28
Bda1 53 12 49 71
Farabee-Type Brachydactyly 53 71
Brachydactyly 41 69
Brachydactyly, Farabee Type 55
Farabee Type Brachydactyly 12
Brachydactyly Farabee Type 49
Brachydactyly A1 71

Characteristics:

Orphanet epidemiological data:

55
brachydactyly type a1
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to acrocapitofemoral dysplasia


HPO:

31
brachydactyly, type a1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 112500
Disease Ontology 12 DOID:0110964
Orphanet 55 ORPHA93388
MESH via Orphanet 42 C537088
UMLS via Orphanet 70 C1862151
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1862151
MeSH 41 D059327

Summaries for Brachydactyly, Type A1

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Brachydactyly, Type A1, also known as brachydactyly type a1, is related to brachydactyly and brachydactyly, type a1, c, and has symptoms including scoliosis, short stature and cone-shaped epiphysis. An important gene associated with Brachydactyly, Type A1 is IHH (Indian Hedgehog), and among its related pathways/superpathways are ERK Signaling and Signaling by Hedgehog. Affiliated tissues include bone, and related phenotypes are craniofacial and growth/size/body region

OMIM : 53 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)

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Brachydactyly.

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.

Wikipedia : 72 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"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 Brachydactyly of Toes

Diseases related to Brachydactyly, Type A1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 30.0 BMPR1B GDF5 GNAS IHH
2 brachydactyly, type a1, c 12.5
3 brachydactyly, type a1, d 12.4
4 brachydactyly, type a1, b 12.4
5 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.1
6 thumbs, stiff, with brachydactyly type a1 and developmental delay 12.1
7 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.1
8 radioulnar synostosis-microcephaly-scoliosis syndrome 11.1
9 thumb stiff brachydactyly mental retardation 11.1
10 acromesomelic dysplasia, hunter-thompson type 10.2 BMPR1B GDF5
11 multiple enchondromatosis, maffucci type 10.2 GNAS IHH
12 brachydactyly, type c 10.2 BMPR1B GDF5
13 chondrodysplasia, grebe type 10.2 BMPR1B GDF5
14 fibular hypoplasia and complex brachydactyly 10.2 BMPR1B GDF5
15 brachydactyly, type a2 10.1 BMPR1B GDF5
16 proximal symphalangism 10.1 BMPR1B GDF5
17 acromesomelic dysplasia 10.0 BMPR1B GDF5
18 multiple synostoses syndrome 2 10.0
19 muenke syndrome 9.9 IHH PTCH1
20 multiple synostoses syndrome 9.9 BMPR1B GDF5 IHH
21 hypotrichosis 1 9.9 IHH SHH
22 scoliosis 9.9
23 septopreoptic holoprosencephaly 9.8 PTCH1 SHH
24 midline interhemispheric variant of holoprosencephaly 9.8 PTCH1 SHH
25 microform holoprosencephaly 9.8 PTCH1 SHH
26 alobar holoprosencephaly 9.7 PTCH1 SHH
27 lobar holoprosencephaly 9.7 PTCH1 SHH
28 semilobar holoprosencephaly 9.7 PTCH1 SHH
29 keratocystic odontogenic tumor 9.7 PTCH1 SHH
30 adult medulloblastoma 9.7 PTCH1 SHH
31 bardet-biedl syndrome 17 9.7 PTCH1 SHH
32 infratentorial cancer 9.7 PTCH1 SHH
33 endocrine gland cancer 9.7 GNAS PTCH1
34 integumentary system cancer 9.6 PTCH1 SHH
35 basal cell nevus syndrome 9.6 PTCH1 SHH
36 nervous system cancer 9.5 PTCH1 SHH
37 autosomal dominant disease 9.3 PTCH1 SHH

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:

53
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:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
2 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 cone-shaped epiphysis 55 31 frequent (33%) Frequent (79-30%) HP:0010579
4 short foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001773
5 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
6 talipes equinovarus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001762
7 short hallux 55 31 hallmark (90%) Very frequent (99-80%) HP:0010109
8 hypoplasia of the ulna 55 31 occasional (7.5%) Occasional (29-5%) HP:0003022
9 short thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009778
10 short middle phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0005819
11 broad metacarpals 55 31 occasional (7.5%) Occasional (29-5%) HP:0001230
12 short palm 31 HP:0004279
13 brachydactyly 31 HP:0001156
14 short distal phalanx of finger 31 HP:0009882
15 short metacarpal 31 HP:0010049
16 broad palm 31 HP:0001169
17 radial deviation of the 2nd finger 31 HP:0009467
18 short proximal phalanx of hallux 31 HP:0010107
19 absent distal interphalangeal creases 31 HP:0001032
20 slender metacarpals 31 HP:0006236
21 distal symphalangism (hands) 55 Occasional (29-5%)
22 proportionate shortening of all digits 31 HP:0006165
23 distal symphalangism of hands 31 occasional (7.5%) HP:0001204
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

MGI Mouse Phenotypes related to Brachydactyly, Type A1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.77 BMPR1B GNAS IHH PTCH1 SHH
2 growth/size/body region MP:0005378 9.73 BMPR1B GDF5 GNAS IHH PTCH1 SHH
3 endocrine/exocrine gland MP:0005379 9.72 BMPR1B GNAS IHH PTCH1 SHH
4 limbs/digits/tail MP:0005371 9.63 BMPR1B GDF5 GNAS IHH PTCH1 SHH
5 skeleton MP:0005390 9.43 BMPR1B GDF5 GNAS IHH PTCH1 SHH
6 taste/olfaction MP:0005394 8.8 GNAS PTCH1 SHH

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 Brachydactyly Type A1 28 IHH

Anatomical Context for Brachydactyly, Type A1

MalaCards organs/tissues related to Brachydactyly, Type A1:

38
Bone

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
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
7
Brachydactyly type A1 with short humerus and associated skeletal features. ( 21077205 )
2010
8
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. ( 19806586 )
2009
9
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. ( 19464397 )
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
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. ( 12525541 )
2003
15
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. ( 12566523 )
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:

71
# 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 11)
# 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.391G> A (p.Glu131Lys) single nucleotide variant Pathogenic rs121917853 GRCh37 Chromosome 2, 219922341: 219922341
3 IHH NM_002181.3(IHH): c.300C> A (p.Asp100Glu) single nucleotide variant Pathogenic rs121917854 GRCh37 Chromosome 2, 219924890: 219924890
4 IHH NM_002181.3(IHH): c.298G> A (p.Asp100Asn) single nucleotide variant Pathogenic rs121917855 GRCh37 Chromosome 2, 219924892: 219924892
5 IHH NM_002181.3(IHH): c.284A> G (p.Glu95Gly) single nucleotide variant Pathogenic rs121917859 GRCh37 Chromosome 2, 219924906: 219924906
6 IHH NM_002181.3(IHH): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs121917861 GRCh37 Chromosome 2, 219922271: 219922271
7 IHH IHH, 3-BP DEL, 283GAG deletion Pathogenic
8 IHH NM_002181.3(IHH): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs267606873 GRCh37 Chromosome 2, 219922349: 219922349
9 IHH NM_002181.3(IHH): c.389C> A (p.Thr130Asn) single nucleotide variant Pathogenic rs267606872 GRCh37 Chromosome 2, 219922343: 219922343
10 TRPS1 NM_014112.4(TRPS1): c.2794G> A (p.Ala932Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1057518972 GRCh37 Chromosome 8, 116430587: 116430587
11 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866

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
13.38 BMPR1B GDF5 GNAS IHH PTCH1
2
Show member pathways
12.1 GNAS IHH PTCH1 SHH
3
Show member pathways
11.99 GNAS PTCH1 SHH
4 11.92 IHH PTCH1 SHH
5
Show member pathways
11.86 GNAS IHH PTCH1 SHH
6 11.82 BMPR1B PTCH1 SHH
7
Show member pathways
11.65 IHH PTCH1 SHH
8 11.45 BMPR1B GDF5
9 11.31 IHH PTCH1
10 11.16 GDF5 SHH
11
Show member pathways
10.65 IHH PTCH1 SHH
12 10.52 GNAS IHH PTCH1 SHH
13 10.22 PTCH1 SHH

GO Terms for Brachydactyly, Type A1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.85 GDF5 IHH SHH
2 skeletal system development GO:0001501 9.74 BMPR1B GNAS IHH
3 multicellular organism growth GO:0035264 9.7 GNAS IHH
4 regulation of growth GO:0040008 9.7 IHH PTCH1
5 negative regulation of cell differentiation GO:0045596 9.7 IHH SHH
6 negative regulation of epithelial cell proliferation GO:0050680 9.7 GDF5 PTCH1
7 heart looping GO:0001947 9.69 IHH SHH
8 embryonic digit morphogenesis GO:0042733 9.69 IHH SHH
9 positive regulation of osteoblast differentiation GO:0045669 9.69 BMPR1B GNAS
10 cell development GO:0048468 9.68 GDF5 SHH
11 positive regulation of cell differentiation GO:0045597 9.68 BMPR1B SHH
12 skin development GO:0043588 9.68 GNAS SHH
13 branching involved in ureteric bud morphogenesis GO:0001658 9.67 PTCH1 SHH
14 chondrocyte differentiation GO:0002062 9.67 BMPR1B GDF5
15 embryonic organ development GO:0048568 9.67 PTCH1 SHH
16 liver regeneration GO:0097421 9.66 IHH PTCH1
17 developmental growth GO:0048589 9.66 GNAS SHH
18 branching involved in blood vessel morphogenesis GO:0001569 9.65 IHH SHH
19 embryonic hindlimb morphogenesis GO:0035116 9.65 GNAS SHH
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 IHH SHH
21 response to mechanical stimulus GO:0009612 9.65 GDF5 IHH PTCH1
22 pancreas development GO:0031016 9.64 IHH SHH
23 positive regulation of smoothened signaling pathway GO:0045880 9.64 IHH SHH
24 embryonic pattern specification GO:0009880 9.63 IHH SHH
25 vasculature development GO:0001944 9.63 IHH SHH
26 smoothened signaling pathway GO:0007224 9.63 IHH PTCH1 SHH
27 limb morphogenesis GO:0035108 9.62 BMPR1B PTCH1
28 renal system development GO:0072001 9.62 PTCH1 SHH
29 embryonic digestive tract morphogenesis GO:0048557 9.61 IHH SHH
30 positive regulation of chondrocyte differentiation GO:0032332 9.61 BMPR1B GDF5
31 camera-type eye development GO:0043010 9.61 BMPR1B IHH SHH
32 spinal cord motor neuron differentiation GO:0021522 9.6 PTCH1 SHH
33 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.59 BMPR1B GDF5
34 cell fate specification GO:0001708 9.58 IHH SHH
35 prostate gland development GO:0030850 9.58 PTCH1 SHH
36 pattern specification process GO:0007389 9.58 IHH PTCH1 SHH
37 dorsal/ventral neural tube patterning GO:0021904 9.56 PTCH1 SHH
38 negative regulation of multicellular organism growth GO:0040015 9.55 GNAS PTCH1
39 hindlimb morphogenesis GO:0035137 9.54 GDF5 PTCH1
40 embryonic limb morphogenesis GO:0030326 9.54 GDF5 PTCH1 SHH
41 positive regulation of alpha-beta T cell differentiation GO:0046638 9.52 IHH SHH
42 positive regulation of T cell differentiation in thymus GO:0033089 9.51 IHH SHH
43 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.49 GDF5 SHH
44 dorsal/ventral pattern formation GO:0009953 9.43 BMPR1B PTCH1 SHH
45 negative regulation of alpha-beta T cell differentiation GO:0046639 9.32 IHH SHH
46 intein-mediated protein splicing GO:0016539 9.16 IHH SHH
47 somite development GO:0061053 9.13 IHH PTCH1 SHH
48 cartilage development GO:0051216 8.92 BMPR1B GDF5 GNAS IHH

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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