BDD
MCID: BRC062
MIFTS: 34

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 56 13 54 39 71
Brachydactyly Type D 12 29 6 15
Bdd 56 12 73
Stub Thumb 56 73
Brachydactyly D 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
brachydactyly, type d:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110971
OMIM 56 113200
MeSH 43 D059327
MedGen 41 C0220664
SNOMED-CT via HPO 68 263681008
UMLS 71 C0220664

Summaries for Brachydactyly, Type D

UniProtKB/Swiss-Prot : 73 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 brachydactyly type d, is related to hemophilia and hemophilia a. An important gene associated with Brachydactyly, Type D is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. Affiliated tissues include bone, 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.

OMIM : 56 Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by Johnson et al., 2003). (113200)

Wikipedia : 74 Brachydactyly type D, also known as short thumb or stub thumb and commonly referred to as clubbed thumb,... more...

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 top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.9 F9 F8
2 hemophilia a 30.6 VWF F9 F8
3 brachydactyly 30.1 HOXD13 HOXD12 H2AC18 F8 DCAF8
4 brachydactyly, type e1 30.0 HOXD13 HOXD12
5 synpolydactyly 29.3 HOXD13 HOXD12 EVX2
6 body dysmorphic disorder 12.0
7 viljoen kallis voges syndrome 11.9
8 symphalangism with multiple anomalies of hands and feet 11.3
9 obsessive-compulsive disorder 10.6
10 fainting 10.4 VWF F8
11 pediatric angiosarcoma 10.4 VWF F8
12 lymphangiosarcoma 10.4 VWF F8
13 acquired hemophilia 10.4 F9 F8
14 acquired hemophilia a 10.4 F9 F8
15 thyroid angiosarcoma 10.4 VWF F8
16 von willebrand disease, type 2 10.3 VWF F8
17 psychotic disorder 10.3
18 von willebrand disease, type 3 10.3 VWF F8
19 drug-induced lupus erythematosus 10.3 VWF H2AC18 DCAF8
20 angiodysplasia 10.3 VWF F8
21 hypercholesterolemia, familial, 4 10.3 SMDT1 H2AC18 DCAF8
22 von willebrand disease, type 1 10.3 VWF F8
23 pfeiffer syndrome 10.3
24 vitamin k deficiency bleeding 10.3 F9 F8
25 blood platelet disease 10.2 VWF H2AC18 F8
26 acquired von willebrand syndrome 10.2 VWF F9 F8
27 thrombophilia due to activated protein c resistance 10.2 VWF F9 F8
28 thrombophilia 10.2 VWF F9 F8
29 prothrombin deficiency 10.2 MCFD2 F9 F8
30 afibrinogenemia, congenital 10.2 VWF MCFD2 F8
31 factor xi deficiency 10.2 VWF F9 F8
32 inherited blood coagulation disease 10.2 VWF F9 F8
33 factor v and factor viii, combined deficiency of, 2 10.2 MCFD2 LMAN1 F8
34 von willebrand's disease 10.2 VWF F9 F8
35 vertical talus, congenital 10.2 ZADH2 H2AC18
36 hemophilia b 10.2 VWF F9 F8
37 hemorrhagic disease 10.2 VWF F9 F8
38 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
39 chlamydia 10.2
40 syndactyly, type v 10.2 HOXD13 HOXD12
41 glanzmann thrombasthenia 10.2 VWF F9 F8
42 cardiac tamponade 10.2 F9 F8
43 bernard-soulier syndrome 10.2 VWF F9 F8
44 brachydactyly-syndactyly syndrome 10.1 HOXD13 HOXD12
45 tibia, hypoplasia or aplasia of, with polydactyly 10.1 HOXD13 HOXD12
46 pulmonary embolism 10.1 VWF F9 F8
47 x-linked monogenic disease 10.1 H2AC18 F9 F8
48 sneddon syndrome 10.1 F9 F8
49 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.1 VWF H2AC18 FURIN
50 intracranial thrombosis 10.1 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:

31
# Description HPO Frequency HPO Source Accession
1 broad distal phalanx of the thumb 31 HP:0009642
2 type d brachydactyly 31 HP:0005627
3 broad distal phalanx of the hallux 31 HP:0010077

Symptoms via clinical synopsis from OMIM:

56
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 Brachydactyly Type D 29 HOXD13

Anatomical Context for Brachydactyly, Type D

MalaCards organs/tissues related to Brachydactyly, Type D:

40
Bone

Publications for Brachydactyly, Type D

Articles related to Brachydactyly, Type D:

# Title Authors PMID Year
1
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 54 6 56
12649808 2003
2
Clinical and molecular studies of brachydactyly type D. 56 61
10398270 1999
3
Inheritance of brachydactyly type D. 61 56
6747264 1984
4
Hoxd13 and Hoxa13 directly control the expression of the EphA7 Ephrin tyrosine kinase receptor in developing limbs. 6
16314414 2006
5
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 6
12620993 2003
6
A GENETIC STUDY OF STUB THUMBS AMONG VARIOUS ETHNIC GROUPS IN ISRAEL. 56
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. 61
24022874 2013
8
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 54
17236141 2007
9
An apparently new mental retardation syndrome in three elderly sisters. 61
1884519 1991
10
Symphalangism with multiple anomalies of the hands and feet: a new genetic trait. 61
6272576 1981

Variations for Brachydactyly, Type D

ClinVar genetic disease variations for Brachydactyly, Type D:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)deletion Pathogenic 689765 2:176958359-176958362 2:176093631-176093634
2 HOXD13 NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu)SNV Pathogenic 14869 rs28928891 2:176959390-176959390 2:176094662-176094662
3 HOXD13 NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys)SNV Pathogenic 14870 rs28928892 2:176959373-176959373 2:176094645-176094645

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 VWF F9 F8
2 11.09 VWF LMAN1 F9 F8

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 8.92 MCFD2 LMAN1 F8 ATP6AP1

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.56 VWF LMAN1 F9 F8
2 COPII vesicle coating GO:0048208 9.5 MCFD2 LMAN1 F8
3 ER to Golgi vesicle-mediated transport GO:0006888 9.46 MCFD2 LMAN1 F9 F8
4 limb morphogenesis GO:0035108 9.4 HOXD13 EVX2
5 zymogen activation GO:0031638 9.37 FURIN F9
6 hemostasis GO:0007599 9.13 VWF F9 F8
7 blood coagulation, intrinsic pathway GO:0007597 8.8 VWF F9 F8

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 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
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