MCID: BRC052
MIFTS: 23

Brachydactyly, Type B2

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

Aliases & Classifications for Brachydactyly, Type B2

MalaCards integrated aliases for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 53 13 69
Brachydactyly Type B2 12 55 28
Bdb2 53 12 71
Brachydactyly B2 71

Characteristics:

Orphanet epidemiological data:

55
brachydactyly type b2
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to proximal symphalangism , multiple synostoses syndrome 1 , tarsal-carpal coalition syndrome , and stapes ankylosis syndrome without symphalangism


HPO:

31
brachydactyly, type b2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 611377
Disease Ontology 12 DOID:0110975
ICD10 32 Q73.8
Orphanet 55 ORPHA140908
UMLS via Orphanet 70 C1969652
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1969652
MeSH 41 D059327
UMLS 69 C1969652

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 brachydactyly type b2, 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.

OMIM : 53 Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly. (611377)

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Brachydactyly, Type B2

Symptoms & Phenotypes for Brachydactyly, Type B2

Symptoms via clinical synopsis from OMIM:

53
Skeletal Hands:
cutaneous syndactyly
short first metacarpal
carpal bone fusion
proximally placed thumb
variable terminal deficiency of fingers
more
Skeletal Feet:
tarsal bone fusion
variable terminal deficiency of toes

Skin Nails Hair Skin:
cutaneous syndactyly


Clinical features from OMIM:

611377

Human phenotypes related to Brachydactyly, Type B2:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
2 short foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001773
3 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
4 synostosis of carpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0005048
5 symphalangism affecting the phalanges of the hand 55 31 frequent (33%) Frequent (79-30%) HP:0009773
6 absent fingernail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001817
7 short distal phalanx of toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0001857
8 type b brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0005831
9 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
10 short toe 55 Very frequent (99-80%)
11 cutaneous finger syndactyly 31 frequent (33%) HP:0010554
12 proximal placement of thumb 31 frequent (33%) HP:0009623
13 tarsal synostosis 31 frequent (33%) HP:0008368
14 short 1st metacarpal 31 very rare (1%) HP:0010034
15 aplasia/hypoplasia of the distal phalanges of the toes 31 frequent (33%) HP:0010185
16 aplasia/hypoplasia of the middle phalanges of the hand 31 frequent (33%) HP:0009843
17 hypermetropia 31 occasional (7.5%) HP:0000540
18 carpal synostosis 31 very rare (1%) HP:0009702
19 aplasia/hypoplasia of the nails 31 frequent (33%) HP:0008386
20 cutaneous syndactyly of toes 31 frequent (33%) HP:0010621
21 aplasia/hypoplasia of the distal phalanges of the hand 31 frequent (33%) HP:0009835
22 absent phalangeal crease 31 frequent (33%) HP:0006109
23 distal symphalangism of hands 31 very rare (1%) HP:0001204
24 aplasia/hypoplasia of the middle phalanges of the toes 31 frequent (33%) HP:0010194
25 proximal symphalangism of hands 31 very rare (1%) HP:0006152

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:

# Genetic test Affiliating Genes
1 Brachydactyly Type B2 28 NOG

Anatomical Context for Brachydactyly, Type B2

MalaCards organs/tissues related to Brachydactyly, Type B2:

38
Bone

Publications for Brachydactyly, Type B2

Variations for Brachydactyly, Type B2

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

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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