BDB2
MCID: BRC052
MIFTS: 23

Brachydactyly, Type B2 (BDB2) malady

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

Aliases & Classifications for Brachydactyly, Type B2

Aliases & Descriptions for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 54 24 13 69
Bdb2 12 24 66
Brachydactyly Type B2 12 56
Brachydactyly B2 66 29

Characteristics:

Orphanet epidemiological data:

56
brachydactyly type b2
Inheritance: Autosomal dominant;

HPO:

32
brachydactyly, type b2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 611377
Disease Ontology 12 DOID:0110975
ICD10 33 Q73.8
Orphanet 56 ORPHA140908
ICD10 via Orphanet 34 Q73.8
MedGen 40 C1969652
MeSH 42 D059327

Summaries for Brachydactyly, Type B2

Disease Ontology : 12 A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has material basis in mutations in the NOG gene on chromosome 17q22.

MalaCards based summary : Brachydactyly, Type B2, is also known as bdb2, and has symptoms including finger syndactyly, short foot and short distal phalanx of finger. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 Brachydactyly B2: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly.

OMIM : 54 Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in... (611377) more...

Related Diseases for Brachydactyly, Type B2

Symptoms & Phenotypes for Brachydactyly, Type B2

Symptoms by clinical synopsis from OMIM:

611377

Clinical features from OMIM:

611377

Human phenotypes related to Brachydactyly, Type B2:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
2 short foot 56 32 Very frequent (99-80%) HP:0001773
3 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
4 synostosis of carpal bones 56 32 Frequent (79-30%) HP:0005048
5 symphalangism affecting the phalanges of the hand 56 32 Frequent (79-30%) HP:0009773
6 absent fingernail 56 32 Very frequent (99-80%) HP:0001817
7 short distal phalanx of toe 56 32 Very frequent (99-80%) HP:0001857
8 type b brachydactyly 56 32 Very frequent (99-80%) HP:0005831
9 sensorineural hearing impairment 32 HP:0000407
10 short toe 56 Very frequent (99-80%)
11 cutaneous finger syndactyly 32 HP:0010554
12 proximal placement of thumb 32 HP:0009623
13 tarsal synostosis 32 HP:0008368
14 short 1st metacarpal 32 HP:0010034
15 aplasia/hypoplasia of the distal phalanges of the toes 32 HP:0010185
16 aplasia/hypoplasia of the middle phalanges of the hand 32 HP:0009843
17 hypermetropia 32 HP:0000540
18 carpal synostosis 32 HP:0009702
19 aplasia/hypoplasia of the nails 32 HP:0008386
20 aplasia/hypoplasia of the distal phalanges of the hand 32 HP:0009835
21 absent phalangeal crease 32 HP:0006109
22 distal symphalangism of hands 32 HP:0001204
23 aplasia/hypoplasia of the middle phalanges of the toes 32 HP:0010194
24 proximal symphalangism of hands 32 HP:0006152
25 cutaneous syndactyly of toes 32 HP:0010621

Drugs & Therapeutics for Brachydactyly, Type B2

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

Genetic tests related to Brachydactyly, Type B2:

id Genetic test Affiliating Genes
1 Brachydactyly Type B2 29
2 Brachydactyly, Type B2 24 NOG

Anatomical Context for Brachydactyly, Type B2

MalaCards organs/tissues related to Brachydactyly, Type B2:

39
Bone

Publications for Brachydactyly, Type B2

Variations for Brachydactyly, Type B2

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type B2:

66
id Symbol AA change Variation ID SNP ID
1 NOG p.Pro35Ser VAR_018324 rs28937580
2 NOG p.Pro35Ala VAR_036997 rs28937580
3 NOG p.Ala36Pro VAR_036998
4 NOG p.Glu48Lys VAR_036999
5 NOG p.Arg167Gly VAR_037000 rs121908949
6 NOG p.Pro187Ser VAR_037001

ClinVar genetic disease variations for Brachydactyly, Type B2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic rs121908949 GRCh37 Chromosome 17, 54672083: 54672083
2 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
3 NOG NM_005450.4(NOG): c.103C> G (p.Pro35Ala) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687

Expression for Brachydactyly, Type B2

Search GEO for disease gene expression data for Brachydactyly, Type B2.

Pathways for Brachydactyly, Type B2

GO Terms for Brachydactyly, Type B2

Sources for Brachydactyly, Type B2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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