BDB2
MCID: BRC052
MIFTS: 40

Brachydactyly, Type B2 (BDB2)

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

Aliases & Classifications for Brachydactyly, Type B2

MalaCards integrated aliases for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 57 13 39 70
Brachydactyly Type B2 12 58 29 6 15
Bdb2 57 12 72
Brachydactyly B2 72

Characteristics:

Orphanet epidemiological data:

58
brachydactyly type b2
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110975
OMIM® 57 611377
MeSH 44 D059327
ICD10 32 Q73.8
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 71 C1969652
Orphanet 58 ORPHA140908
MedGen 41 C1969652
UMLS 70 C1969652

Summaries for Brachydactyly, Type B2

OMIM® : 57 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 (summary by Lehmann et al., 2007). (611377) (Updated 20-May-2021)

MalaCards based summary : Brachydactyly, Type B2, also known as brachydactyly type b2, is related to sugarman brachydactyly and du pan syndrome. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling by BMP. Affiliated tissues include bone and eye, and related phenotypes are short distal phalanx of finger and short foot

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.

UniProtKB/Swiss-Prot : 72 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

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 B2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 sugarman brachydactyly 10.2 NOG GDF5
2 du pan syndrome 10.1 NOG GDF5
3 brachydactyly, type a4 10.1 GDF5 DECR2
4 brachydactyly, type a1 10.0 YIPF2 NOG GDF5
5 syndactyly, type iii 10.0 AKIRIN2 AKIRIN1
6 microphthalmia, isolated 4 10.0 GDF5 ACVR1
7 multiple synostoses syndrome 10.0 YIPF2 NOG GDF5
8 osseous heteroplasia, progressive 10.0 NOG ACVR1
9 brachydactyly, type a1, c 9.9 NOG GDF5 ACVR1
10 brachydactyly, type a1, b 9.9 NOG GDF5 ACVR1
11 brachydactyly, type b1 9.9 NOG GDF5 DVL3
12 ankylosis 9.9 NOG GDF5 ACVR1
13 brachydactyly, type a2 9.9 NOG GDF5 ACVR1
14 bone development disease 9.9 NOG GDF5
15 fibrodysplasia ossificans progressiva 9.9 NOG ACVR1
16 synostoses, tarsal, carpal, and digital 9.7 YIPF2 NOG GDF5 ACVR1
17 lacrimoauriculodentodigital syndrome 9.7 GDF5 BHLHA9
18 synostosis 9.7 NOG GDF5 BHLHA9
19 poland syndrome 9.7 BHLHA9 AKIRIN2 AKIRIN1
20 chromosome 2q35 duplication syndrome 9.7 NOG GDF5 BHLHA9
21 metacarpal 4-5 fusion 9.7 BHLHA9 AKIRIN2 AKIRIN1
22 tarsal-carpal coalition syndrome 9.4 YIPF2 NOG GDF5 CHRD ACVR1
23 proximal symphalangism 9.4 YIPF2 NOG GDF5 CHRD ACVR1

Graphical network of the top 20 diseases related to Brachydactyly, Type B2:



Diseases related to Brachydactyly, Type B2

Symptoms & Phenotypes for Brachydactyly, Type B2

Human phenotypes related to Brachydactyly, Type B2:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
2 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
3 absent fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001817
4 short distal phalanx of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001857
5 type b brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0005831
6 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
7 symphalangism affecting the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009773
8 synostosis of carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0005048
9 proximal placement of thumb 31 frequent (33%) HP:0009623
10 cutaneous finger syndactyly 31 frequent (33%) HP:0010554
11 tarsal synostosis 31 frequent (33%) HP:0008368
12 aplasia/hypoplasia of the distal phalanges of the toes 31 frequent (33%) HP:0010185
13 aplasia/hypoplasia of the nails 31 frequent (33%) HP:0008386
14 aplasia/hypoplasia of the middle phalanges of the hand 31 frequent (33%) HP:0009843
15 aplasia/hypoplasia of the distal phalanges of the hand 31 frequent (33%) HP:0009835
16 cutaneous syndactyly of toes 31 frequent (33%) HP:0010621
17 absent phalangeal crease 31 frequent (33%) HP:0006109
18 aplasia/hypoplasia of the middle phalanges of the toes 31 frequent (33%) HP:0010194
19 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
20 hypermetropia 31 occasional (7.5%) HP:0000540
21 short 1st metacarpal 31 very rare (1%) HP:0010034
22 carpal synostosis 31 very rare (1%) HP:0009702
23 proximal symphalangism of hands 31 very rare (1%) HP:0006152
24 distal symphalangism of hands 31 very rare (1%) HP:0001204
25 short toe 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Brachydactyly, Type B2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 ACVR1 CHRD DVL3 NOG
2 limbs/digits/tail MP:0005371 9.02 ACVR1 BHLHA9 DVL3 GDF5 NOG

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 29 NOG

Anatomical Context for Brachydactyly, Type B2

MalaCards organs/tissues related to Brachydactyly, Type B2:

40
Bone, Eye

Publications for Brachydactyly, Type B2

Articles related to Brachydactyly, Type B2:

(show all 12)
# Title Authors PMID Year
1
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 57 6
17668388 2007
2
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 6
18440889 2008
3
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 6
11857750 2002
4
Bmp4 mediates apoptotic cell death in the developing chick eye. 6
11160400 2001
5
BMP4 is essential for lens induction in the mouse embryo. 6
9851982 1998
6
[Multiple synostosis disease]. 57
4648959 1972
7
A Novel Role for the BMP Antagonist Noggin in Sensitizing Cells to Non-canonical Wnt-5a/Ror2/Disheveled Pathway Activation. 61
28523267 2017
8
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder. 61
27508084 2016
9
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. 61
26211601 2015
10
A new mutation in the gene ROR2 causes brachydactyly type B1. 61
24954533 2014
11
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. 61
24326127 2014
12
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). 61
21538686 2011

Variations for Brachydactyly, Type B2

ClinVar genetic disease variations for Brachydactyly, Type B2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOG NM_005450.5(NOG):c.499C>G (p.Arg167Gly) SNV Pathogenic 6702 rs121908949 GRCh37: 17:54672083-54672083
GRCh38: 17:56594722-56594722
2 NOG NM_005450.5(NOG):c.103C>T (p.Pro35Ser) SNV Pathogenic 6703 rs28937580 GRCh37: 17:54671687-54671687
GRCh38: 17:56594326-56594326
3 NOG NM_005450.5(NOG):c.103C>G (p.Pro35Ala) SNV Pathogenic 6708 rs28937580 GRCh37: 17:54671687-54671687
GRCh38: 17:56594326-56594326
4 NOG NM_005450.5(NOG):c.611G>A (p.Arg204Gln) SNV Likely pathogenic 375295 rs104894610 GRCh37: 17:54672195-54672195
GRCh38: 17:56594834-56594834

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

72
# 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

Expression for Brachydactyly, Type B2

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

Pathways for Brachydactyly, Type B2

Pathways related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 NOG CHRD ACVR1
2
Show member pathways
11.11 NOG CHRD
3 10.9 NOG GDF5 CHRD ACVR1
4 10.64 NOG GDF5

GO Terms for Brachydactyly, Type B2

Biological processes related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.77 NOG DVL3 CHRD BHLHA9 AKIRIN2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.72 NOG DVL3 AKIRIN2 AKIRIN1 ACVR1
3 cartilage development GO:0051216 9.54 NOG GDF5
4 negative regulation of osteoblast differentiation GO:0045668 9.52 NOG CHRD
5 negative regulation of BMP signaling pathway GO:0030514 9.51 NOG CHRD
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.49 GDF5 ACVR1
7 dorsal/ventral pattern formation GO:0009953 9.48 NOG ACVR1
8 cellular response to BMP stimulus GO:0071773 9.46 NOG ACVR1
9 ventricular septum morphogenesis GO:0060412 9.43 NOG ACVR1
10 mesoderm formation GO:0001707 9.4 NOG ACVR1
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.26 GDF5 ACVR1
12 endocardial cushion morphogenesis GO:0003203 9.16 NOG ACVR1
13 BMP signaling pathway GO:0030509 9.13 NOG GDF5 ACVR1
14 BMP signaling pathway involved in heart development GO:0061312 8.62 NOG ACVR1

Molecular functions related to Brachydactyly, Type B2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 8.62 NOG CHRD

Sources for Brachydactyly, Type B2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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