BDA1
MCID: BRC078
MIFTS: 54

Brachydactyly, Type A1 (BDA1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Brachydactyly, Type A1

MalaCards integrated aliases for Brachydactyly, Type A1:

Name: Brachydactyly, Type A1 57 12 53 38 71
Brachydactyly Type A1 11 19 58 75 28 5 43 14
Bda1 57 11 19 73
Farabee-Type Brachydactyly 57 73
Brachydactyly, Farabee Type 58
Farabee Type Brachydactyly 11
Brachydactyly Farabee Type 19
Brachydactyly A1 73
Brachydactyly 71

Characteristics:


Inheritance:

Brachydactyly, Type A1: Autosomal dominant 57
Brachydactyly Type A1: Autosomal dominant 58

Age Of Onset:

Brachydactyly Type A1: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
allelic to acrocapitofemoral dysplasia


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0110964
OMIM® 57 112500
MESH via Orphanet 44 C537088
ICD10 via Orphanet 32 Q73.8
UMLS via Orphanet 72 C1862151
Orphanet 58 ORPHA93388
MedGen 40 C1862151
UMLS 71 C0221357 C1862151

Summaries for Brachydactyly, Type A1

UniProtKB/Swiss-Prot: 73 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, type a1, d and brachydactyly, type a1, b. An important gene associated with Brachydactyly, Type A1 is IHH (Indian Hedgehog Signaling Molecule), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone and heart, and related phenotypes are short stature and short thumb

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) (Updated 08-Dec-2022)

GARD: 19 A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.

Orphanet: 58 A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.

Disease Ontology: 11 A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.

Wikipedia: 75 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 113)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a1, d 33.1 IHH GDF5 BMPR1B
2 brachydactyly, type a1, b 32.8 SDK1 BDA1B
3 brachydactyly, type a1, c 32.7 NOG IHH GDF6 GDF5 BMPR1B
4 osteochondrodysplasia 30.3 SHH IHH GDF5 BMPR1B
5 multiple synostoses syndrome 30.0 NOG GDF6 GDF5 BMPR1B
6 brachydactyly 29.9 SHH PTCH1 NOG IHH HOXD13 GLI1
7 brachydactyly, type a2 29.7 NOG IHH GDF6 GDF5 BMPR1B BMPR1A
8 thumbs, stiff, with brachydactyly type a1 and developmental delay 11.4
9 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.4
10 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.2
11 radioulnar synostosis-microcephaly-scoliosis syndrome 11.2
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
13 chronic tympanitis 10.3 IHH GDF5 BMPR1B
14 fibroepithelial basal cell carcinoma 10.3 PTCH1 GLI1
15 pericytoma with t(7;12) 10.3 PTCH1 GLI1
16 penis carcinoma in situ 10.3 PTCH1 GLI1
17 basosquamous carcinoma 10.3 PTCH1 GLI1
18 acromesomelic dysplasia 10.3 IHH GDF5 BMPR1B
19 polydactyly, preaxial ii 10.2 SHH PTCH1
20 vulva basal cell carcinoma 10.2 SHH PTCH1
21 leber congenital amaurosis 17 10.2 GDF6 GDF5
22 acromesomelic dysplasia 2c 10.2 GDF5 BMPR1B
23 holoprosencephaly 6 10.2 SHH PTCH1
24 microphthalmia, isolated 4 10.2 GDF6 GDF5
25 brachydactyly, type b2 10.2 NOG GDF5 BMPR1B
26 brachydactyly, type b1 10.2 NOG IHH GDF5
27 klippel-feil syndrome 1 10.2 GDF6 GDF5 BMPR1B
28 klippel-feil syndrome 10.2 GDF6 GDF5 BMPR1B
29 holoprosencephaly 7 10.2 PTCH1 DHH
30 large cell medulloblastoma 10.2 SHH PTCH1
31 acromesomelic dysplasia 2b 10.2 NOG GDF5 BMPR1B
32 holoprosencephaly 11 10.2 SHH PTCH1 CDON
33 desmoplastic nodular medulloblastoma 10.2 SHH PTCH1 GLI1
34 cerebellar medulloblastoma 10.2 SHH PTCH1 GLI1
35 cerebellum cancer 10.2 SHH PTCH1 GLI1
36 adult medulloblastoma 10.2 SHH PTCH1
37 trachea leiomyoma 10.2 SHH GLI1
38 tarsal-carpal coalition syndrome 10.2 NOG GDF5
39 childhood medulloblastoma 10.1 SHH PTCH1 GLI1
40 skeletal muscle cancer 10.1 SHH PTCH1 GLI1
41 atypical teratoid rhabdoid tumor 10.1 SHH PTCH1 GLI1
42 holoprosencephaly 4 10.1 SHH CDON
43 brachydactyly, type a4 10.1 IHH HOXD13 GDF5
44 colobomatous microphthalmia 10.1 SHH PTCH1 GDF6
45 polydactyly, postaxial, type a1 10.1 PTCH1 GLI3 GLI1
46 micronodular basal cell carcinoma 10.1 SHH PTCH1
47 holoprosencephaly 9 10.1 SHH GLI3
48 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.1 SHH GLI3 GDF5
49 holoprosencephaly 3 10.1 SHH PTCH1 GLI3
50 synostoses, tarsal, carpal, and digital 10.1 NOG GDF6 GDF5 BMPR1B

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.36 BMPR1A
2 Decreased viability GR00221-A-2 9.36 BMPR1A
3 Decreased viability GR00221-A-3 9.36 BMPR1A BMPR1B DHH SHH
4 Decreased viability GR00221-A-4 9.36 BMPR1A
5 Decreased viability GR00249-S 9.36 BMPR1A SHH
6 Decreased viability GR00301-A 9.36 BMPR1B
7 Decreased viability GR00342-S-1 9.36 BMPR1B

MGI Mouse Phenotypes related to Brachydactyly, Type A1:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.43 BMPR1A BMPR1B CDON DHH GAS1 GDF6
2 growth/size/body region MP:0005378 10.41 BMPR1A BMPR1B CDON GAS1 GDF5 GDF6
3 limbs/digits/tail MP:0005371 10.38 BMPR1A BMPR1B CDON GAS1 GDF5 GDF6
4 embryo MP:0005380 10.32 BMPR1A BMPR1B CDON GAS1 GDF5 GLI1
5 endocrine/exocrine gland MP:0005379 10.31 BMPR1A BMPR1B DHH GLI1 GLI3 HHIP
6 craniofacial MP:0005382 10.28 BMPR1A BMPR1B CDON GAS1 GDF6 GLI1
7 digestive/alimentary MP:0005381 10.27 BMPR1A CDON DHH GAS1 GLI1 GLI3
8 cellular MP:0005384 10.22 BMPR1A BMPR1B CDON GAS1 GLI1 GLI3
9 normal MP:0002873 10.18 BMPR1A BMPR1B GLI1 GLI3 NOG PTCH1
10 no phenotypic analysis MP:0003012 10.17 GLI1 GLI3 HOXD13 IHH PTCH1 SDK1
11 renal/urinary system MP:0005367 10.15 GLI1 GLI3 HOXD13 NOG PTCH1 SHH
12 respiratory system MP:0005388 10.15 BMPR1A CDON GAS1 GLI1 GLI3 HHIP
13 hearing/vestibular/ear MP:0005377 10.13 BMPR1A GAS1 GDF6 GLI3 NOG PTCH1
14 skeleton MP:0005390 10.13 BMPR1A BMPR1B CDON GAS1 GDF5 GDF6
15 reproductive system MP:0005389 10.1 BMPR1A BMPR1B DHH GDF5 GLI1 GLI3
16 pigmentation MP:0001186 10.06 BMPR1A BMPR1B GAS1 GLI3 PTCH1 TMEM163
17 vision/eye MP:0005391 9.97 BMPR1A BMPR1B CDON GAS1 GDF6 GLI3
18 mortality/aging MP:0010768 9.53 BMPR1A BMPR1B CDON GAS1 GDF5 GDF6
19 taste/olfaction MP:0005394 9.26 GLI3 NOG PTCH1 SHH

Drugs & Therapeutics for Brachydactyly, Type A1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Brachydactyly, Type A1

Cochrane evidence based reviews: brachydactyly type a1

Genetic Tests for Brachydactyly, Type A1

Genetic tests related to Brachydactyly, Type A1:

# Genetic test Affiliating Genes
1 Brachydactyly Type A1 28

Anatomical Context for Brachydactyly, Type A1

Organs/tissues related to Brachydactyly, Type A1:

MalaCards : Bone, Heart

Publications for Brachydactyly, Type A1

Articles related to Brachydactyly, Type A1:

(show top 50) (show all 53)
# 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. 53 62 57 5
16871364 2006
2
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 53 62 57 5
12384778 2002
3
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. 62 57 5
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. 62 57 5
17486609 2007
5
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. 62 57 5
12525541 2003
6
A century later Farabee has his mutation. 57 5
15886999 2005
7
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 57 5
11455389 2001
8
FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED. 57 5
14043746 1963
9
Brachydactyly type A1 with short humerus and associated skeletal features. 62 57
21077205 2010
10
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. 62 5
19277064 2009
11
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. 62 5
19252479 2009
12
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla. 62 5
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. 62 5
12566523 2003
14
A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. 62 57
10712204 2000
15
Evaluation of candidate genes for familial brachydactyly. 62 57
8592325 1995
16
[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 57
6631421 1983
17
Julia Bell. 57
86881 1979
18
Classification and identification of inherited brachydactylies. 57
469884 1979
19
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. 53 62
19504437 2009
20
Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene. 62
35669189 2022
21
The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss. 62
34815823 2022
22
Altered microRNAs in C3H10T1/2 cells induced by p.E95K mutant IHH signaling. 62
34922634 2021
23
SAG therapy restores bone growth and reduces enchondroma incidence in a model of skeletal chondrodysplasias caused by Ihh deficiency. 62
34820473 2021
24
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1. 62
34315464 2021
25
Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family. 62
32789964 2020
26
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. 62
32311039 2020
27
A novel variant of IHH in a Chinese family with brachydactyly type 1. 62
32209048 2020
28
[Clinical practice guidelines for brachydactyly type A1]. 62
32128750 2020
29
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 62
30651074 2019
30
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. 62
29155992 2018
31
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1. 62
30574312 2018
32
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene. 62
28794911 2017
33
Ihh and PTH1R signaling in limb mesenchyme is required for proper segmentation and subsequent formation and growth of digit bones. 62
26620087 2016
34
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 62
25758993 2015
35
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. 62
25932455 2015
36
Mutation screening in candidate genes in four Chinese brachydactyly families. 62
25696018 2015
37
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 62
24098149 2013
38
The ankyrin-repeat transmembrane protein BDA1 functions downstream of the receptor-like protein SNC2 to regulate plant immunity. 62
22740615 2012
39
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. 62
22406540 2012
40
A large duplication involving the IHH locus mimics acrocallosal syndrome. 62
22234151 2012
41
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. 62
21537345 2011
42
Mutations in GDF5 presenting as semidominant brachydactyly A1. 62
20683927 2010
43
Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. 62
20660756 2010
44
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. 62
20358606 2010
45
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. 62
20024692 2010
46
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. 62
19806586 2009
47
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. 62
19464397 2009
48
Brachydactyly A1: new relatives for old families? 62
16131709 2005
49
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. 62
15841179 2005
50
Answering a century old riddle: brachydactyly type A1. 62
15225411 2004

Variations for Brachydactyly, Type A1

ClinVar genetic disease variations for Brachydactyly, Type A1:

5 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IHH NM_002181.4(IHH):c.283G>A (p.Glu95Lys) SNV Pathogenic
8866 rs121917852 GRCh37: 2:219924907-219924907
GRCh38: 2:219060185-219060185
2 IHH NM_002181.4(IHH):c.391G>A (p.Glu131Lys) SNV Pathogenic
8867 rs121917853 GRCh37: 2:219922341-219922341
GRCh38: 2:219057619-219057619
3 IHH NM_002181.4(IHH):c.300C>A (p.Asp100Glu) SNV Pathogenic
8868 rs121917854 GRCh37: 2:219924890-219924890
GRCh38: 2:219060168-219060168
4 IHH NM_002181.4(IHH):c.298G>A (p.Asp100Asn) SNV Pathogenic
8869 rs121917855 GRCh37: 2:219924892-219924892
GRCh38: 2:219060170-219060170
5 IHH NM_002181.4(IHH):c.284A>G (p.Glu95Gly) SNV Pathogenic
8872 rs121917859 GRCh37: 2:219924906-219924906
GRCh38: 2:219060184-219060184
6 IHH NM_002181.4(IHH):c.461C>T (p.Thr154Ile) SNV Pathogenic
8873 rs121917861 GRCh37: 2:219922271-219922271
GRCh38: 2:219057549-219057549
7 IHH NM_002181.4(IHH):c.383G>A (p.Arg128Gln) SNV Pathogenic
8875 rs267606873 GRCh37: 2:219922349-219922349
GRCh38: 2:219057627-219057627
8 IHH NM_002181.4(IHH):c.389C>A (p.Thr130Asn) SNV Pathogenic
8876 rs267606872 GRCh37: 2:219922343-219922343
GRCh38: 2:219057621-219057621
9 IHH NM_002181.4(IHH):c.484A>G (p.Lys162Glu) SNV Likely Pathogenic
834082 rs1948841937 GRCh37: 2:219922248-219922248
GRCh38: 2:219057526-219057526
10 IHH NM_002181.4(IHH):c.478C>A (p.Arg160Ser) SNV Likely Pathogenic
834086 rs1948842030 GRCh37: 2:219922254-219922254
GRCh38: 2:219057532-219057532
11 IHH NM_002181.4(IHH):c.448G>A (p.Ala150Thr) SNV Likely Pathogenic
869103 rs1948842142 GRCh37: 2:219922284-219922284
GRCh38: 2:219057562-219057562
12 IHH NM_002181.4(IHH):c.565_567dup (p.Ser189dup) DUP Likely Pathogenic
929711 rs1948841364 GRCh37: 2:219922164-219922165
GRCh38: 2:219057442-219057443
13 IHH NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) MICROSAT Likely Pathogenic
834083 rs1948868228 GRCh37: 2:219924905-219924907
GRCh38: 2:219060183-219060185
14 IHH NM_002181.4(IHH):c.649C>T (p.Arg217Cys) SNV Uncertain Significance
896645 rs1244499290 GRCh37: 2:219920516-219920516
GRCh38: 2:219055794-219055794
15 IHH NM_002181.4(IHH):c.693C>G (p.Ala231=) SNV Uncertain Significance
896644 rs772887242 GRCh37: 2:219920472-219920472
GRCh38: 2:219055750-219055750
16 IHH NM_002181.4(IHH):c.316C>A (p.Arg106Ser) SNV Uncertain Significance
931290 rs775959009 GRCh37: 2:219922416-219922416
GRCh38: 2:219057694-219057694
17 IHH NM_002181.4(IHH):c.291A>C (p.Thr97=) SNV Uncertain Significance
897111 rs1161408444 GRCh37: 2:219924899-219924899
GRCh38: 2:219060177-219060177
18 IHH NM_002181.4(IHH):c.369C>T (p.Pro123=) SNV Uncertain Significance
897110 rs1574687575 GRCh37: 2:219922363-219922363
GRCh38: 2:219057641-219057641
19 IHH NM_002181.4(IHH):c.704A>T (p.Asp235Val) SNV Uncertain Significance
895225 rs774042639 GRCh37: 2:219920461-219920461
GRCh38: 2:219055739-219055739
20 IHH NM_002181.4(IHH):c.799C>G (p.Arg267Gly) SNV Uncertain Significance
895224 rs748379688 GRCh37: 2:219920366-219920366
GRCh38: 2:219055644-219055644
21 IHH NM_002181.4(IHH):c.*267A>T SNV Uncertain Significance
895161 rs879320591 GRCh37: 2:219919662-219919662
GRCh38: 2:219054940-219054940
22 IHH NM_002181.4(IHH):c.*300T>C SNV Uncertain Significance
895160 rs1410529350 GRCh37: 2:219919629-219919629
GRCh38: 2:219054907-219054907
23 IHH NM_002181.4(IHH):c.*313C>T SNV Uncertain Significance
895159 rs1948815728 GRCh37: 2:219919616-219919616
GRCh38: 2:219054894-219054894
24 IHH NM_002181.4(IHH):c.*368G>A SNV Uncertain Significance
895158 rs776716315 GRCh37: 2:219919561-219919561
GRCh38: 2:219054839-219054839
25 IHH NM_002181.4(IHH):c.*423G>A SNV Uncertain Significance
895157 rs956439051 GRCh37: 2:219919506-219919506
GRCh38: 2:219054784-219054784
26 IHH NM_002181.4(IHH):c.*596G>A SNV Uncertain Significance
895156 rs746749613 GRCh37: 2:219919333-219919333
GRCh38: 2:219054611-219054611
27 IHH NM_002181.4(IHH):c.*246G>C SNV Uncertain Significance
896577 rs1948816288 GRCh37: 2:219919683-219919683
GRCh38: 2:219054961-219054961
28 IHH NM_002181.4(IHH):c.*217G>A SNV Uncertain Significance
896578 rs1948816466 GRCh37: 2:219919712-219919712
GRCh38: 2:219054990-219054990
29 IHH NM_002181.4(IHH):c.*33G>A SNV Uncertain Significance
896579 rs552544696 GRCh37: 2:219919896-219919896
GRCh38: 2:219055174-219055174
30 IHH NM_002181.4(IHH):c.799C>A (p.Arg267Ser) SNV Uncertain Significance
334438 rs748379688 GRCh37: 2:219920366-219920366
GRCh38: 2:219055644-219055644
31 IHH NM_002181.4(IHH):c.910G>T (p.Val304Leu) SNV Uncertain Significance
899309 rs752484924 GRCh37: 2:219920255-219920255
GRCh38: 2:219055533-219055533
32 IHH NM_002181.4(IHH):c.849C>T (p.His283=) SNV Uncertain Significance
899311 rs1457337975 GRCh37: 2:219920316-219920316
GRCh38: 2:219055594-219055594
33 IHH NM_002181.4(IHH):c.540C>T (p.Tyr180=) SNV Uncertain Significance
896649 rs768257762 GRCh37: 2:219922192-219922192
GRCh38: 2:219057470-219057470
34 IHH NM_002181.4(IHH):c.567C>T (p.Ser189=) SNV Uncertain Significance
896648 rs769274873 GRCh37: 2:219922165-219922165
GRCh38: 2:219057443-219057443
35 IHH NM_002181.4(IHH):c.577+14G>C SNV Uncertain Significance
896647 rs1290500068 GRCh37: 2:219922141-219922141
GRCh38: 2:219057419-219057419
36 IHH NM_002181.4(IHH):c.1169G>A (p.Arg390His) SNV Uncertain Significance
287491 rs150661368 GRCh37: 2:219919996-219919996
GRCh38: 2:219055274-219055274
37 IHH NM_002181.4(IHH):c.1101T>C (p.Phe367=) SNV Uncertain Significance
334433 rs886055650 GRCh37: 2:219920064-219920064
GRCh38: 2:219055342-219055342
38 IHH NM_002181.4(IHH):c.-18C>T SNV Uncertain Significance
334448 rs886055652 GRCh37: 2:219925207-219925207
GRCh38: 2:219060485-219060485
39 IHH NM_002181.4(IHH):c.*199G>A SNV Uncertain Significance
334428 rs773408612 GRCh37: 2:219919730-219919730
GRCh38: 2:219055008-219055008
40 IHH NM_002181.4(IHH):c.*397G>A SNV Uncertain Significance
334426 rs886055649 GRCh37: 2:219919532-219919532
GRCh38: 2:219054810-219054810
41 IHH NM_002181.4(IHH):c.-14C>T SNV Uncertain Significance
334447 rs886055651 GRCh37: 2:219925203-219925203
GRCh38: 2:219060481-219060481
42 IHH NM_002181.4(IHH):c.702G>A (p.Glu234=) SNV Likely Benign
334442 rs201051352 GRCh37: 2:219920463-219920463
GRCh38: 2:219055741-219055741
43 IHH NM_002181.4(IHH):c.1221C>T (p.Ser407=) SNV Likely Benign
735057 rs774963881 GRCh37: 2:219919944-219919944
GRCh38: 2:219055222-219055222
44 IHH NM_002181.4(IHH):c.858G>A (p.Pro286=) SNV Benign
287743 rs146055831 GRCh37: 2:219920307-219920307
GRCh38: 2:219055585-219055585
45 IHH NM_002181.3(IHH):c.*785C>T SNV Benign
334424 rs566164413 GRCh37: 2:219919144-219919144
GRCh38: 2:219054422-219054422
46 IHH NM_002181.4(IHH):c.816A>G (p.Thr272=) SNV Benign
899312 rs200792119 GRCh37: 2:219920349-219920349
GRCh38: 2:219055627-219055627
47 IHH NM_002181.4(IHH):c.588C>T (p.Ala196=) SNV Benign
896646 rs770515682 GRCh37: 2:219920577-219920577
GRCh38: 2:219055855-219055855
48 IHH NM_002181.4(IHH):c.909C>T (p.Tyr303=) SNV Benign
899310 rs758078057 GRCh37: 2:219920256-219920256
GRCh38: 2:219055534-219055534
49 IHH NM_002181.4(IHH):c.717C>T (p.Thr239=) SNV Benign
334441 rs533532683 GRCh37: 2:219920448-219920448
GRCh38: 2:219055726-219055726
50 IHH NM_002181.4(IHH):c.*248C>A SNV Benign
334427 rs79195401 GRCh37: 2:219919681-219919681
GRCh38: 2:219054959-219054959

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 STK36 PTCH1 IHH GLI1 GDF6 GDF5
2 13.56 SHH PTCH1 NOG IHH HHIP GLI3
3
Show member pathways
13.43 STK36 PTCH1 IHH GLI1 GDF6 GDF5
4
Show member pathways
12.31 SHH PTCH1 IHH DHH
5
Show member pathways
12.23 SHH PTCH1 IHH HHIP GLI3 GLI1
6 12 BMPR1A CDON GLI3 SHH
7
Show member pathways
11.93 PTCH1 IHH GLI3 BMPR1A
8
Show member pathways
11.82 SHH NOG IHH
9
Show member pathways
11.56 NOG BMPR1B BMPR1A
11 11.42 SHH NOG GDF5
12 11.39 BMPR1A GLI1 GLI3 SHH
13 11.3 SHH PTCH1 IHH GLI1
14
Show member pathways
11.24 PTCH1 GLI3 GLI1
15 11.23 GLI1 GLI3 PTCH1 SHH STK36
16
Show member pathways
11.11 SHH PTCH1 IHH HHIP GLI3 GAS1
17 11.07 SHH PTCH1 GLI1
18 10.9 SHH PTCH1 IHH HHIP GLI3 GLI1
19 10.73 NOG BMPR1B BMPR1A
20 10.67 SHH PTCH1 GLI1
21
Show member pathways
10.59 SHH GLI3
22 10.49 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 HFE-transferrin receptor complex GO:1990712 9.46 BMPR1B BMPR1A
2 plasma membrane signaling receptor complex GO:0098802 8.96 BMPR1B BMPR1A
3 GLI-SUFU complex GO:1990788 8.92 GLI3 GLI1

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

(show top 50) (show all 73)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.65 BMPR1A BMPR1B CDON GLI1 GLI3 HOXD13
2 in utero embryonic development GO:0001701 10.39 PTCH1 NOG IHH GLI3 BMPR1A
3 negative regulation of canonical Wnt signaling pathway GO:0090090 10.33 SHH NOG GLI3 GLI1
4 lung development GO:0030324 10.28 SHH GLI3 GLI1 BMPR1A
5 regulation of cell population proliferation GO:0042127 10.22 GLI3 HOXD13 PTCH1 SHH
6 odontogenesis of dentin-containing tooth GO:0042475 10.21 SHH GLI3 BMPR1A
7 response to mechanical stimulus GO:0009612 10.21 PTCH1 IHH GDF5
8 stem cell proliferation GO:0072089 10.21 SHH PTCH1 GLI3
9 BMP signaling pathway GO:0030509 10.21 BMPR1A BMPR1B GDF5 GDF6 NOG
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.2 GDF6 GDF5 BMPR1A
11 branching involved in ureteric bud morphogenesis GO:0001658 10.19 GLI3 PTCH1 SHH
12 neuroblast proliferation GO:0007405 10.19 SHH HHIP GLI3
13 positive regulation of epithelial cell proliferation GO:0050679 10.19 BMPR1A IHH NOG SHH
14 anterior/posterior pattern specification GO:0009952 10.19 BMPR1A CDON GLI3 HOXD13 SHH
15 metanephros development GO:0001656 10.18 SHH GLI3 GDF6
16 liver regeneration GO:0097421 10.17 PTCH1 IHH GLI1
17 cell fate specification GO:0001708 10.17 SHH IHH DHH CDON
18 osteoblast differentiation GO:0001649 10.17 BMPR1A BMPR1B DHH GLI1 GLI3 IHH
19 protein autoprocessing GO:0016540 10.16 SHH IHH DHH
20 negative regulation of smoothened signaling pathway GO:0045879 10.15 PTCH1 HHIP GLI3
21 pituitary gland development GO:0021983 10.15 BMPR1A GLI1 NOG
22 negative regulation of chondrocyte differentiation GO:0032331 10.14 IHH GLI3 GDF5
23 regulation of smoothened signaling pathway GO:0008589 10.14 PTCH1 GLI1 GAS1
24 positive regulation of chondrocyte differentiation GO:0032332 10.13 GLI3 GDF6 GDF5 BMPR1B
25 cellular response to BMP stimulus GO:0071773 10.11 NOG BMPR1B BMPR1A
26 embryonic digestive tract morphogenesis GO:0048557 10.11 SHH IHH GLI3
27 epithelial cell proliferation GO:0050673 10.11 SHH PTCH1 NOG BMPR1A
28 chondrocyte differentiation GO:0002062 10.11 BMPR1A BMPR1B GDF5 GLI3 IHH
29 smooth muscle tissue development GO:0048745 10.09 SHH PTCH1 IHH
30 developmental growth GO:0048589 10.09 SHH GLI3 GAS1 BMPR1A
31 self proteolysis GO:0097264 10.08 SHH IHH DHH
32 positive regulation of alpha-beta T cell differentiation GO:0046638 10.08 SHH IHH GLI3
33 somite development GO:0061053 10.08 SHH PTCH1 NOG IHH
34 positive regulation of smoothened signaling pathway GO:0045880 10.07 STK36 SHH IHH GLI1 DHH
35 positive regulation of mesenchymal cell proliferation GO:0002053 10.06 SHH IHH BMPR1A
36 hindlimb morphogenesis GO:0035137 10.06 PTCH1 GDF5 BMPR1A
37 mesenchymal cell apoptotic process GO:0097152 10.05 SHH GDF5
38 metanephric collecting duct development GO:0072205 10.05 SHH PTCH1
39 pharyngeal arch artery morphogenesis GO:0061626 10.05 NOG BMPR1A
40 limb morphogenesis GO:0035108 10.05 PTCH1 HOXD13 GLI3
41 embryonic organ development GO:0048568 10.05 SHH PTCH1 GLI3 BMPR1A
42 artery development GO:0060840 10.04 SHH GLI3
43 central nervous system neuron differentiation GO:0021953 10.04 BMPR1B BMPR1A
44 forebrain development GO:0030900 10.04 SHH NOG GLI3
45 alpha-beta T cell differentiation GO:0046632 10.04 SHH GLI3
46 spinal cord motor neuron differentiation GO:0021522 10.04 SHH PTCH1 GLI3
47 ventricular compact myocardium morphogenesis GO:0003223 10.03 BMPR1A NOG
48 positive regulation of skeletal muscle tissue development GO:0048643 10.03 CDON SHH
49 BMP signaling pathway involved in heart development GO:0061312 10.03 BMPR1A NOG
50 embryonic limb morphogenesis GO:0030326 10.03 GDF5 GLI3 HOXD13 PTCH1 SHH

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.73 BMPR1B BMPR1A
2 phosphatase activator activity GO:0019211 9.71 BMPR1B BMPR1A
3 BMP receptor activity GO:0098821 9.67 BMPR1B BMPR1A
4 BMP binding GO:0036122 9.63 GDF5 BMPR1B BMPR1A
5 transforming growth factor beta receptor activity, type I GO:0005025 9.62 BMPR1B BMPR1A
6 hedgehog family protein binding GO:0097108 9.56 PTCH1 HHIP
7 cholesterol-protein transferase activity GO:0140853 9.43 SHH IHH DHH
8 patched binding GO:0005113 9.23 SHH PTCH1 IHH DHH

Sources for Brachydactyly, Type A1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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