BDA1
MCID: BRC078
MIFTS: 56

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 56 13 54 39 71
Brachydactyly Type A1 12 74 52 58 15
Bda1 56 12 52 73
Farabee-Type Brachydactyly 56 73
Type A1 Brachydactyly 29 6
Brachydactyly 43 71
Brachydactyly, Farabee Type 58
Farabee Type Brachydactyly 12
Brachydactyly Farabee Type 52
Brachydactyly A1 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type a1
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
allelic to acrocapitofemoral dysplasia


HPO:

31
brachydactyly, type a1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110964
OMIM 56 112500
MeSH 43 D059327
MESH via Orphanet 44 C537088
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1862151
Orphanet 58 ORPHA93388
MedGen 41 C1862151
UMLS 71 C0221357 C1862151

Summaries for Brachydactyly, Type A1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93388 Definition Brachydactyly 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. Epidemiology Only a few pedigrees have been reported in the literature. Clinical description The proximal phalanges of the thumbs and big toes are short. BDA1 patients tend to be of short stature in adulthood. Etiology BDA1 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 counseling BDA1 is inherited as an autosomal dominant trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Brachydactyly, Type A1, also known as brachydactyly type a1, is related to brachydactyly, type a1, c 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 Hedgehog and Presynaptic function of Kainate receptors. Affiliated tissues include bone and heart, and related phenotypes are short stature and short thumb

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 : 56 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 : 73 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 : 74 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 501)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a1, c 34.7 NOG GDF5-AS1 GDF5
2 brachydactyly, type c 34.5 GDF5-AS1 GDF5 BMPR1B
3 brachydactyly, type a4 34.4 IHH HOXD13 GDF5
4 brachydactyly, type b1 34.3 ROR2 NOG IHH GDF5
5 hypertension and brachydactyly syndrome 33.9 PTHLH PTH1R HOXD13
6 brachydactyly, type a2 33.9 NOG IHH GDF5-AS1 GDF5 BMPR1B BMPR1A
7 brachydactyly, type b2 33.8 YIPF2 NOG GDF5
8 sugarman brachydactyly 33.8 NOG IHH HOXD13 GDF5 BMPR1B
9 du pan syndrome 33.6 NOG IHH GDF5 BMPR1B
10 brachydactyly, type a1, b 32.5 SDK1 PTCH1 NOG IHH HOXD13 GDF5
11 chondrodysplasia, grebe type 32.4 GDF5 BMPR1B
12 acrocapitofemoral dysplasia 32.4 SHH PTH1R IHH GDF5
13 focal dermal hypoplasia 31.8 SHH PTCH1 GLI1
14 tarsal-carpal coalition syndrome 31.7 YIPF2 NOG GDF5
15 multiple synostoses syndrome 2 31.0 GDF5-AS1 GDF5
16 symphalangism, proximal, 1b 30.6 GDF5-AS1 GDF5
17 polydactyly 30.3 SHH PTCH1 HOXD13 GLI1
18 symphalangism, proximal, 1a 30.2 ROR2 NOG
19 dysostosis 30.2 SHH NOG IHH HOXD13 GDF5
20 synostosis 30.1 SHH NOG IHH HOXD13 GDF5
21 chromosome 2q35 duplication syndrome 29.9 SHH PTCH1 NOG IHH HOXD13 GDF5
22 odontochondrodysplasia 29.8 SHH PTHLH PTH1R IHH GDF5
23 proximal symphalangism 29.8 YIPF2 ROR2 NOG GDF5 BMPR1B
24 multiple synostoses syndrome 29.6 YIPF2 NOG GDF5-AS1 GDF5 BMPR1B BMPR1A
25 basal cell nevus syndrome 29.5 SHH ROR2 PTCH1 IHH GLI1 CDON
26 brachydactyly 28.8 SHH ROR2 PTHLH PTCH1 NOG IHH
27 brachydactyly, type a1, d 12.9
28 brachydactyly, type e1 12.7
29 temtamy preaxial brachydactyly syndrome 12.6
30 brachydactyly-syndactyly syndrome 12.6
31 brachydactyly, type d 12.6
32 brachydactyly, combined b and e types 12.6
33 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.6
34 brachydactyly, type e2 12.6
35 brachydactyly, type a3 12.6
36 digital arthropathy-brachydactyly, familial 12.5
37 brachydactyly, preaxial, with hallux varus and thumb abduction 12.5
38 long-thumb brachydactyly syndrome 12.5
39 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.5
40 hirschsprung disease with type d brachydactyly 12.5
41 thumbs, stiff, with brachydactyly type a1 and developmental delay 12.5
42 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.5
43 coloboma of macula with type b brachydactyly 12.5
44 brachydactyly type a7 12.5
45 brachydactyly, mononen type 12.5
46 short stature, brachydactyly, intellectual developmental disability, and seizures 12.5
47 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.5
48 brachydactyly-distal symphalangism syndrome 12.4
49 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 12.4
50 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 12.4

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 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
3 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
4 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
5 short middle phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0005819
6 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
7 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
9 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
10 hypoplasia of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0003022
11 broad metacarpals 58 31 occasional (7.5%) Occasional (29-5%) HP:0001230
12 distal symphalangism of hands 31 occasional (7.5%) HP:0001204
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 short palm 31 HP:0004279
18 radial deviation of the 2nd finger 31 HP:0009467
19 distal symphalangism (hands) 58 Occasional (29-5%)
20 slender metacarpals 31 HP:0006236
21 absent distal interphalangeal creases 31 HP:0001032
22 short proximal phalanx of hallux 31 HP:0010107
23 proportionate shortening of all digits 31 HP:0006165
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

Symptoms via clinical synopsis from OMIM:

56
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

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-1 9.5 BMPR1A
2 Decreased viability GR00221-A-2 9.5 BMPR1A ROR2
3 Decreased viability GR00221-A-3 9.5 BMPR1A BMPR1B ROR2 SHH
4 Decreased viability GR00221-A-4 9.5 BMPR1A ROR2
5 Decreased viability GR00249-S 9.5 BMPR1A SHH
6 Decreased viability GR00301-A 9.5 BMPR1B
7 Decreased viability GR00342-S-1 9.5 BMPR1B ROR2
8 Decreased viability GR00342-S-3 9.5 ROR2

MGI Mouse Phenotypes related to Brachydactyly, Type A1:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 BMPR1A BMPR1B CDON GDF5 GLI1 HOXD13
2 craniofacial MP:0005382 10.35 BMPR1A BMPR1B CDON GLI1 IHH NOG
3 mortality/aging MP:0010768 10.35 BMPR1A BMPR1B CDON GDF5 GLI1 HOXD13
4 embryo MP:0005380 10.33 BMPR1A BMPR1B CDON GDF5 GLI1 HOXD13
5 cellular MP:0005384 10.32 BMPR1A BMPR1B CDON GLI1 IHH NOG
6 endocrine/exocrine gland MP:0005379 10.31 BMPR1A BMPR1B GLI1 HOXD13 IHH NOG
7 limbs/digits/tail MP:0005371 10.31 BMPR1A BMPR1B CDON GDF5 GLI1 HOXD13
8 digestive/alimentary MP:0005381 10.3 BMPR1A CDON GLI1 HOXD13 IHH NOG
9 cardiovascular system MP:0005385 10.28 ADAMTS12 BMPR1A CDON IHH NOG PTCH1
10 nervous system MP:0003631 10.21 BMPR1A BMPR1B CDON GLI1 IHH NOG
11 no phenotypic analysis MP:0003012 10.01 GLI1 HOXD13 IHH PTCH1 SDK1 SHH
12 neoplasm MP:0002006 10 ADAMTS12 BMPR1A GLI1 PTCH1 PTH1R PTHLH
13 reproductive system MP:0005389 10 BMPR1A BMPR1B GDF5 GLI1 HOXD13 NOG
14 hearing/vestibular/ear MP:0005377 9.99 BMPR1A NOG PTCH1 ROR2 SHH STK36
15 normal MP:0002873 9.97 BMPR1A BMPR1B GLI1 NOG PTCH1 PTHLH
16 respiratory system MP:0005388 9.9 BMPR1A CDON GLI1 IHH NOG PTCH1
17 renal/urinary system MP:0005367 9.87 GLI1 HOXD13 NOG PTCH1 PTHLH SHH
18 skeleton MP:0005390 9.77 BMPR1A BMPR1B CDON GDF5 HOXD13 IHH
19 vision/eye MP:0005391 9.36 BMPR1A BMPR1B CDON HOXD13 IHH NOG

Drugs & Therapeutics for Brachydactyly, Type A1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
2 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Brachydactyly, Type A1

Cochrane evidence based reviews: brachydactyly

Genetic Tests for Brachydactyly, Type A1

Genetic tests related to Brachydactyly, Type A1:

# Genetic test Affiliating Genes
1 Type A1 Brachydactyly 29 IHH

Anatomical Context for Brachydactyly, Type A1

MalaCards organs/tissues related to Brachydactyly, Type A1:

40
Bone, Heart

Publications for Brachydactyly, Type A1

Articles related to Brachydactyly, Type A1:

(show all 43)
# 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. 61 56 6 54
16871364 2006
2
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 56 6 54 61
12384778 2002
3
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. 56 6 61
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. 56 6 61
17486609 2007
5
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. 61 6 56
12525541 2003
6
A century later Farabee has his mutation. 6 56
15886999 2005
7
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 6 56
11455389 2001
8
FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED. 6 56
14043746 1963
9
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 61 6
25758993 2015
10
Brachydactyly type A1 with short humerus and associated skeletal features. 61 56
21077205 2010
11
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. 6 61
19252479 2009
12
The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla. 61 6
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. 61 6
12566523 2003
14
Evaluation of candidate genes for familial brachydactyly. 56 61
8592325 1995
15
Mutations in GDF5 presenting as semidominant brachydactyly A1. 6
20683927 2010
16
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. 6
19277064 2009
17
A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. 56
10712204 2000
18
[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 56
6631421 1983
19
Julia Bell. 56
86881 1979
20
Classification and identification of inherited brachydactylies. 56
469884 1979
21
[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. 54 61
19504437 2009
22
Clinical and molecular description of 16 families with heterozygous IHH variants. 61
32311039 2020
23
[Clinical practice guidelines for brachydactyly type A1]. 61
32128750 2020
24
A novel variant of IHH in a Chinese family with brachydactyly type 1. 61
32209048 2020
25
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 61
30651074 2019
26
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. 61
29155992 2018
27
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1. 61
30574312 2018
28
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene. 61
28794911 2017
29
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. 61
25932455 2015
30
Mutation screening in candidate genes in four Chinese brachydactyly families. 61
25696018 2015
31
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 61
24098149 2013
32
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. 61
22406540 2012
33
A large duplication involving the IHH locus mimics acrocallosal syndrome. 61
22234151 2012
34
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. 61
21537345 2011
35
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. 61
20358606 2010
36
Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. 61
20024692 2010
37
Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. 61
19806586 2009
38
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. 61
19464397 2009
39
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. 61
15841179 2005
40
Answering a century old riddle: brachydactyly type A1. 61
15225411 2004
41
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. 61
11897820 2002
42
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. 61
10745048 2000
43
Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. 61
9546827 1998

Variations for Brachydactyly, Type A1

ClinVar genetic disease variations for Brachydactyly, Type A1:

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IHH NM_002181.4(IHH):c.283G>A (p.Glu95Lys)SNV Pathogenic 8866 rs121917852 2:219924907-219924907 2:219060185-219060185
2 IHH NM_002181.4(IHH):c.391G>A (p.Glu131Lys)SNV Pathogenic 8867 rs121917853 2:219922341-219922341 2:219057619-219057619
3 IHH NM_002181.4(IHH):c.300C>A (p.Asp100Glu)SNV Pathogenic 8868 rs121917854 2:219924890-219924890 2:219060168-219060168
4 IHH NM_002181.4(IHH):c.298G>A (p.Asp100Asn)SNV Pathogenic 8869 rs121917855 2:219924892-219924892 2:219060170-219060170
5 IHH NM_002181.4(IHH):c.284A>G (p.Glu95Gly)SNV Pathogenic 8872 rs121917859 2:219924906-219924906 2:219060184-219060184
6 IHH NM_002181.4(IHH):c.461C>T (p.Thr154Ile)SNV Pathogenic 8873 rs121917861 2:219922271-219922271 2:219057549-219057549
7 IHH IHH, 3-BP DEL, 283GAGdeletion Pathogenic 8874
8 IHH NM_002181.4(IHH):c.383G>A (p.Arg128Gln)SNV Pathogenic 8875 rs267606873 2:219922349-219922349 2:219057627-219057627
9 IHH NM_002181.4(IHH):c.389C>A (p.Thr130Asn)SNV Pathogenic 8876 rs267606872 2:219922343-219922343 2:219057621-219057621
10 IHH NM_002181.4(IHH):c.567C>T (p.Ser189=)SNV Uncertain significance 896648 2:219922165-219922165 2:219057443-219057443
11 IHH NM_002181.4(IHH):c.540C>T (p.Tyr180=)SNV Uncertain significance 896649 2:219922192-219922192 2:219057470-219057470
12 IHH NM_002181.4(IHH):c.369C>T (p.Pro123=)SNV Uncertain significance 897110 2:219922363-219922363 2:219057641-219057641
13 IHH NM_002181.4(IHH):c.291A>C (p.Thr97=)SNV Uncertain significance 897111 2:219924899-219924899 2:219060177-219060177
14 IHH NM_002181.4(IHH):c.577+14G>CSNV Uncertain significance 896647 2:219922141-219922141 2:219057419-219057419
15 IHH NM_002181.4(IHH):c.1169G>A (p.Arg390His)SNV Uncertain significance 287491 rs150661368 2:219919996-219919996 2:219055274-219055274
16 IHH NM_002181.4(IHH):c.*300T>CSNV Uncertain significance 895160 2:219919629-219919629 2:219054907-219054907
17 IHH NM_002181.4(IHH):c.*596G>ASNV Uncertain significance 895156 2:219919333-219919333 2:219054611-219054611
18 IHH NM_002181.4(IHH):c.*423G>ASNV Uncertain significance 895157 2:219919506-219919506 2:219054784-219054784
19 IHH NM_002181.4(IHH):c.*368G>ASNV Uncertain significance 895158 2:219919561-219919561 2:219054839-219054839
20 IHH NM_002181.4(IHH):c.*313C>TSNV Uncertain significance 895159 2:219919616-219919616 2:219054894-219054894
21 IHH NM_002181.4(IHH):c.*267A>TSNV Uncertain significance 895161 2:219919662-219919662 2:219054940-219054940
22 IHH NM_002181.4(IHH):c.*246G>CSNV Uncertain significance 896577 2:219919683-219919683 2:219054961-219054961
23 IHH NM_002181.4(IHH):c.*217G>ASNV Uncertain significance 896578 2:219919712-219919712 2:219054990-219054990
24 IHH NM_002181.4(IHH):c.*33G>ASNV Uncertain significance 896579 2:219919896-219919896 2:219055174-219055174
25 IHH NM_002181.4(IHH):c.910G>T (p.Val304Leu)SNV Uncertain significance 899309 2:219920255-219920255 2:219055533-219055533
26 IHH NM_002181.4(IHH):c.799C>G (p.Arg267Gly)SNV Uncertain significance 895224 2:219920366-219920366 2:219055644-219055644
27 IHH NM_002181.4(IHH):c.704A>T (p.Asp235Val)SNV Uncertain significance 895225 2:219920461-219920461 2:219055739-219055739
28 IHH NM_002181.4(IHH):c.693C>G (p.Ala231=)SNV Uncertain significance 896644 2:219920472-219920472 2:219055750-219055750
29 IHH NM_002181.4(IHH):c.649C>T (p.Arg217Cys)SNV Uncertain significance 896645 2:219920516-219920516 2:219055794-219055794
30 IHH NM_002181.4(IHH):c.*397G>ASNV Uncertain significance 334426 rs886055649 2:219919532-219919532 2:219054810-219054810
31 IHH NM_002181.4(IHH):c.849C>T (p.His283=)SNV Uncertain significance 899311 2:219920316-219920316 2:219055594-219055594
32 IHH NM_002181.4(IHH):c.1101T>C (p.Phe367=)SNV Uncertain significance 334433 rs886055650 2:219920064-219920064 2:219055342-219055342
33 IHH NM_002181.4(IHH):c.-14C>TSNV Uncertain significance 334447 rs886055651 2:219925203-219925203 2:219060481-219060481
34 IHH NM_002181.4(IHH):c.-18C>TSNV Uncertain significance 334448 rs886055652 2:219925207-219925207 2:219060485-219060485
35 IHH NM_002181.4(IHH):c.*199G>ASNV Uncertain significance 334428 rs773408612 2:219919730-219919730 2:219055008-219055008
36 IHH NM_002181.4(IHH):c.799C>A (p.Arg267Ser)SNV Uncertain significance 334438 rs748379688 2:219920366-219920366 2:219055644-219055644
37 IHH NM_002181.4(IHH):c.702G>A (p.Glu234=)SNV Likely benign 334442 rs201051352 2:219920463-219920463 2:219055741-219055741
38 IHH NM_002181.4(IHH):c.1221C>T (p.Ser407=)SNV Likely benign 735057 2:219919944-219919944 2:219055222-219055222
39 IHH NM_002181.4(IHH):c.207C>A (p.Gly69=)SNV Benign/Likely benign 738671 2:219924983-219924983 2:219060261-219060261
40 IHH NM_002181.4(IHH):c.858G>A (p.Pro286=)SNV Benign/Likely benign 287743 rs146055831 2:219920307-219920307 2:219055585-219055585
41 IHH NM_002181.4(IHH):c.873G>A (p.Arg291=)SNV Benign/Likely benign 334435 rs149554120 2:219920292-219920292 2:219055570-219055570
42 IHH NM_002181.4(IHH):c.819C>T (p.Pro273=)SNV Benign 334437 rs61747697 2:219920346-219920346 2:219055624-219055624
43 IHH NM_002181.4(IHH):c.755A>G (p.His252Arg)SNV Benign 334439 rs76479554 2:219920410-219920410 2:219055688-219055688
44 IHH NM_002181.4(IHH):c.753T>C (p.Pro251=)SNV Benign 334440 rs3731881 2:219920412-219920412 2:219055690-219055690
45 IHH NM_002181.4(IHH):c.*175C>GSNV Benign 334429 rs3099 2:219919754-219919754 2:219055032-219055032
46 IHH NM_002181.4(IHH):c.969C>T (p.His323=)SNV Benign 334434 rs76578869 2:219920196-219920196 2:219055474-219055474
47 IHH NM_002181.4(IHH):c.717C>T (p.Thr239=)SNV Benign 334441 rs533532683 2:219920448-219920448 2:219055726-219055726
48 IHH NM_002181.4(IHH):c.600G>A (p.Thr200=)SNV Benign 334443 rs3731878 2:219920565-219920565 2:219055843-219055843
49 IHH NM_002181.4(IHH):c.816A>G (p.Thr272=)SNV Benign 899312 2:219920349-219920349 2:219055627-219055627
50 IHH NM_002181.4(IHH):c.857C>T (p.Pro286Leu)SNV Benign 334436 rs140093604 2:219920308-219920308 2:219055586-219055586

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 SHH PTCH1 IHH GLI1 CDON
2
Show member pathways
12.23 SHH PTHLH PTH1R PTCH1 IHH
3 11.92 SHH ROR2 CDON BMPR1A
4 11.68 NOG GDF5 BMPR1B BMPR1A
5
Show member pathways
11.56 NOG BMPR1B BMPR1A
6 11.53 PTHLH PTH1R PTCH1 IHH BMPR1A
7 11.35 SHH NOG GDF5
8 11.35 SHH PTCH1 IHH GLI1 CDON
9 11.31 STK36 SHH PTCH1 GLI1
10
Show member pathways
11.03 SHH PTHLH PTCH1 IHH CDON
11 10.69 SHH PTHLH PTH1R PTCH1 IHH GLI1
12
Show member pathways
10.63 STK36 SHH PTCH1 IHH GLI1
13 10.41 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 receptor complex GO:0043235 9.26 ROR2 PTH1R BMPR1B BMPR1A
2 HFE-transferrin receptor complex GO:1990712 8.62 BMPR1B BMPR1A

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

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.24 STK36 SHH ROR2 NOG IHH HOXD13
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.22 SHH NOG IHH HOXD13 GLI1 CDON
3 cell differentiation GO:0030154 10.2 ROR2 NOG IHH GLI1 BMPR1B BMPR1A
4 positive regulation of transcription, DNA-templated GO:0045893 10.13 SHH ROR2 PTCH1 GLI1 BMPR1A
5 positive regulation of cell proliferation GO:0008284 10.11 SHH PTHLH PTH1R IHH GLI1
6 cell-cell signaling GO:0007267 10.01 SHH PTHLH IHH GDF5
7 in utero embryonic development GO:0001701 9.99 PTH1R PTCH1 NOG IHH BMPR1A
8 negative regulation of canonical Wnt signaling pathway GO:0090090 9.98 SHH ROR2 NOG GLI1
9 anterior/posterior pattern specification GO:0009952 9.93 SHH HOXD13 CDON BMPR1A
10 osteoblast differentiation GO:0001649 9.9 NOG IHH GLI1
11 lung development GO:0030324 9.89 SHH GLI1 BMPR1A
12 camera-type eye development GO:0043010 9.87 SHH IHH BMPR1B
13 skeletal system development GO:0001501 9.87 ROR2 PTHLH PTH1R NOG IHH HOXD13
14 positive regulation of epithelial cell proliferation GO:0050679 9.86 NOG IHH BMPR1A
15 response to mechanical stimulus GO:0009612 9.86 PTCH1 IHH GDF5
16 negative regulation of cell differentiation GO:0045596 9.86 SHH NOG IHH
17 BMP signaling pathway GO:0030509 9.85 ROR2 NOG GDF5 BMPR1B BMPR1A
18 embryonic organ development GO:0048568 9.84 SHH PTCH1 BMPR1A
19 chondrocyte differentiation GO:0002062 9.84 PTH1R BMPR1B BMPR1A
20 bone mineralization GO:0030282 9.83 ROR2 PTHLH PTH1R
21 cell fate specification GO:0001708 9.83 SHH IHH CDON
22 embryonic limb morphogenesis GO:0030326 9.83 SHH PTCH1 HOXD13 GDF5
23 cartilage development GO:0051216 9.83 NOG IHH GDF5 BMPR1B BMPR1A
24 liver regeneration GO:0097421 9.81 PTCH1 IHH GLI1
25 pituitary gland development GO:0021983 9.8 NOG GLI1 BMPR1A
26 positive regulation of smoothened signaling pathway GO:0045880 9.8 STK36 SHH IHH GLI1
27 limb morphogenesis GO:0035108 9.78 PTCH1 HOXD13 BMPR1B
28 cellular response to BMP stimulus GO:0071773 9.78 NOG BMPR1B BMPR1A ADAMTS12
29 positive regulation of mesenchymal cell proliferation GO:0002053 9.77 SHH IHH BMPR1A
30 embryonic morphogenesis GO:0048598 9.76 SHH CDON BMPR1A
31 negative regulation of chondrocyte differentiation GO:0032331 9.75 PTHLH GDF5 ADAMTS12
32 striated muscle cell differentiation GO:0051146 9.74 SHH CDON
33 male genitalia development GO:0030539 9.74 SHH ROR2 HOXD13
34 positive regulation of chondrocyte differentiation GO:0032332 9.73 GDF5 BMPR1B
35 anatomical structure formation involved in morphogenesis GO:0048646 9.73 SHH NOG
36 embryonic digestive tract morphogenesis GO:0048557 9.73 SHH IHH
37 protein autoprocessing GO:0016540 9.73 SHH IHH
38 endocardial cushion morphogenesis GO:0003203 9.73 NOG BMPR1A
39 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.73 GDF5 BMPR1B BMPR1A
40 smoothened signaling pathway GO:0007224 9.73 SHH ROR2 PTCH1 IHH GLI1 CDON
41 digestive tract morphogenesis GO:0048546 9.72 SHH GLI1
42 dorsal/ventral neural tube patterning GO:0021904 9.72 SHH PTCH1
43 osteoblast development GO:0002076 9.72 SHH PTHLH PTH1R
44 ectoderm development GO:0007398 9.71 SHH BMPR1A
45 metanephric collecting duct development GO:0072205 9.71 SHH PTCH1
46 positive regulation of alpha-beta T cell differentiation GO:0046638 9.71 SHH IHH
47 smooth muscle tissue development GO:0048745 9.71 SHH PTCH1 IHH
48 somite development GO:0061053 9.71 SHH PTCH1 NOG IHH
49 positive regulation of T cell differentiation in thymus GO:0033089 9.7 SHH IHH
50 regulation of protein localization to nucleus GO:1900180 9.7 SUMO3 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 9.16 BMPR1B BMPR1A
2 transforming growth factor beta receptor activity, type I GO:0005025 8.96 BMPR1B BMPR1A
3 patched binding GO:0005113 8.8 SHH PTCH1 IHH

Sources for Brachydactyly, Type A1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....