BDD
MCID: BRC062
MIFTS: 26

Brachydactyly, Type D (BDD)

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

Aliases & Classifications for Brachydactyly, Type D

MalaCards integrated aliases for Brachydactyly, Type D:

Name: Brachydactyly, Type D 57 13 55 40 73
Bdd 57 12 75
Type D Brachydactyly 29 6
Stub Thumb 57 75
Brachydactyly Type D 12
Brachydactyly D 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachydactyly, type d:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 113200
Disease Ontology 12 DOID:0110971
MedGen 42 C0220664
MeSH 44 D059327
SNOMED-CT via HPO 69 263681008
UMLS 73 C0220664

Summaries for Brachydactyly, Type D

UniProtKB/Swiss-Prot : 75 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 hirschsprung disease with type d brachydactyly and viljoen kallis voges syndrome. An important gene associated with Brachydactyly, Type D is HOXD13 (Homeobox D13). 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.

Wikipedia : 76 Stub thumb is a condition clinically recognised by a thumb being relatively short and round with an... more...

Description from OMIM: 113200

Related Diseases for Brachydactyly, Type D

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



Diseases related to Brachydactyly, Type D

Symptoms & Phenotypes for Brachydactyly, Type D

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

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

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

Publications for Brachydactyly, Type D

Articles related to Brachydactyly, Type D:

# Title Authors Year
1
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. ( 24022874 )
2013
2
A case report of brachydactyly types D and E: a new variation of brachydactyly. ( 15215028 )
2004
3
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. ( 12649808 )
2003
4
Clinical and molecular studies of brachydactyly type D. ( 10398270 )
1999
5
Inheritance of brachydactyly type D. ( 6747264 )
1984

Variations for Brachydactyly, Type D

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

75
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Ser316Cys VAR_015952 rs28928892

ClinVar genetic disease variations for Brachydactyly, Type D:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 GRCh37 Chromosome 2, 176959390: 176959390
2 HOXD13 NM_000523.3(HOXD13): c.964A> C (p.Ile322Leu) single nucleotide variant Pathogenic rs28928891 GRCh38 Chromosome 2, 176094662: 176094662
3 HOXD13 NM_000523.3(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 GRCh37 Chromosome 2, 176959373: 176959373
4 HOXD13 NM_000523.3(HOXD13): c.947C> G (p.Ser316Cys) single nucleotide variant Pathogenic rs28928892 GRCh38 Chromosome 2, 176094645: 176094645

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

Sources for Brachydactyly, Type D

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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