BDD
MCID: BRC062
MIFTS: 32

Brachydactyly, Type D (BDD)

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

Aliases & Classifications for Brachydactyly, Type D

MalaCards integrated aliases for Brachydactyly, Type D:

Name: Brachydactyly, Type D 57 13 55 40 72
Bdd 57 12 74
Brachydactyly Type D 12 15
Type D Brachydactyly 29 6
Stub Thumb 57 74
Brachydactyly D 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachydactyly, type d:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110971
OMIM 57 113200
MeSH 44 D059327
MedGen 42 C0220664
UMLS 72 C0220664

Summaries for Brachydactyly, Type D

UniProtKB/Swiss-Prot : 74 Brachydactyly D: 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 D is characterized by short and broad terminal phalanges of the thumbs and big toes.

MalaCards based summary : Brachydactyly, Type D, also known as bdd, is related to factor viii deficiency and hemophilia. An important gene associated with Brachydactyly, Type D is HOXD13 (Homeobox D13). Affiliated tissues include bone and heart, and related phenotypes are broad distal phalanx of the thumb and type d brachydactyly

Disease Ontology : 12 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.

Wikipedia : 75 Brachydactyly type D, also known as short thumb or stub thumb and commonly referred to as clubbed thumb,... more...

More information from OMIM: 113200

Related Diseases for Brachydactyly, Type D

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 D via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 factor viii deficiency 30.6 VWF F8
2 hemophilia 30.6 VWF F8
3 hemophilia a 30.6 VWF F8
4 hirschsprung disease with type d brachydactyly 12.8
5 body dysmorphic disorder 12.0
6 viljoen kallis voges syndrome 11.9
7 symphalangism with multiple anomalies of hands and feet 11.3
8 obsessive-compulsive disorder 10.5
9 fainting 10.3 VWF F8
10 brachydactyly 10.3
11 cerebral arteritis 10.3 VWF F8
12 acquired von willebrand syndrome 10.3 VWF F8
13 von willebrand disease, type 1 10.3 VWF F8
14 hemarthrosis 10.3 VWF F8
15 pfeiffer syndrome 10.3
16 intracranial thrombosis 10.3 VWF F8
17 inherited blood coagulation disease 10.2 VWF F8
18 blood coagulation disease 10.2 VWF F8
19 von willebrand disease, type 3 10.2 VWF F8
20 lymphangiosarcoma 10.2 VWF F8
21 von willebrand disease, type 2 10.2 VWF F8
22 thrombophilia due to activated protein c resistance 10.2 VWF F8
23 thrombophilia 10.2 VWF F8
24 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
25 chlamydia 10.2
26 psychotic disorder 10.2
27 afibrinogenemia 10.1 VWF F8
28 von willebrand's disease 10.1 VWF F8
29 factor v deficiency 10.1 VWF F8
30 thrombophilia due to thrombin defect 10.1 VWF F8
31 blood platelet disease 10.0 VWF F8
32 glanzmann thrombasthenia 10.0 VWF F8
33 brachydactyly, type e1 9.9
34 synpolydactyly 9.9
35 bernard-soulier syndrome 9.9 VWF F8
36 hemorrhagic disease 9.7 VWF F8

Graphical network of the top 20 diseases related to Brachydactyly, Type D:



Diseases related to Brachydactyly, Type D

Symptoms & Phenotypes for Brachydactyly, Type D

Human phenotypes related to Brachydactyly, Type D:

32
# Description HPO Frequency HPO Source Accession
1 broad distal phalanx of the thumb 32 HP:0009642
2 type d brachydactyly 32 HP:0005627
3 broad distal phalanx of the hallux 32 HP:0010077

Symptoms via clinical synopsis from OMIM:

57
Limbs:
brachydactyly
short and broad distal phalanges of thumbs and great toes

Radiology:
obliterated epiphyseal line at base of distal thumb phalanx

Growth:
normal

Clinical features from OMIM:

113200

Drugs & Therapeutics for Brachydactyly, Type D

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type D

Genetic Tests for Brachydactyly, Type D

Genetic tests related to Brachydactyly, Type D:

# Genetic test Affiliating Genes
1 Type D Brachydactyly 29 HOXD13

Anatomical Context for Brachydactyly, Type D

MalaCards organs/tissues related to Brachydactyly, Type D:

41
Bone, Heart

Publications for Brachydactyly, Type D

Articles related to Brachydactyly, Type D:

(show all 12)
# Title Authors PMID Year
1
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 9 8 71
12649808 2003
2
Clinical and molecular studies of brachydactyly type D. 38 8
10398270 1999
3
Inheritance of brachydactyly type D. 38 8
6747264 1984
4
Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs. 71
16314414 2006
5
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 71
12620993 2003
6
A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL. 8
14295653 1965
7
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. 38
24022874 2013
8
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 9
17236141 2007
9
An apparently new mental retardation syndrome in three elderly sisters. 38
1884519 1991
10
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings. 38
1976459 1990
11
Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. 38
6823428 1983
12
Symphalangism with multiple anomalies of the hands and feet: a new genetic trait. 38
6272576 1981

Variations for Brachydactyly, Type D

ClinVar genetic disease variations for Brachydactyly, Type D:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 2:176959390-176959390 2:176094662-176094662
2 HOXD13 NM_000523.4(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 2:176959373-176959373 2:176094645-176094645

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

74
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Ser316Cys VAR_015952 rs28928892

Expression for Brachydactyly, Type D

Search GEO for disease gene expression data for Brachydactyly, Type D.

Pathways for Brachydactyly, Type D

GO Terms for Brachydactyly, Type D

Cellular components related to Brachydactyly, Type D according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.96 F8 ATP6AP1
2 platelet alpha granule lumen GO:0031093 8.62 VWF F8

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

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.16 VWF F8
2 hemostasis GO:0007599 8.96 VWF F8
3 blood coagulation, intrinsic pathway GO:0007597 8.62 VWF F8

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 VWF FURIN

Sources for Brachydactyly, Type D

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....