BDB2
MCID: BRC052
MIFTS: 44

Brachydactyly, Type B2 (BDB2)

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

Aliases & Classifications for Brachydactyly, Type B2

MalaCards integrated aliases for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 58 13 41 74
Brachydactyly Type B2 12 60 30 6 15
Bdb2 58 12 76
Brachydactyly B2 76

Characteristics:

Orphanet epidemiological data:

60
brachydactyly type b2
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
brachydactyly, type b2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110975
OMIM 58 611377
MeSH 45 D059327
ICD10 34 Q73.8
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1969652
Orphanet 60 ORPHA140908
MedGen 43 C1969652
UMLS 74 C1969652

Summaries for Brachydactyly, Type B2

OMIM : 58 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)

MalaCards based summary : Brachydactyly, Type B2, also known as brachydactyly type b2, is related to synostoses, tarsal, carpal, and digital and fibular hypoplasia and complex brachydactyly. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Pathways in cancer. Affiliated tissues include bone and eye, and related phenotypes are short foot and short distal phalanx of finger

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 : 76 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 22)
# Related Disease Score Top Affiliating Genes
1 synostoses, tarsal, carpal, and digital 10.3 GDF5 NOG
2 fibular hypoplasia and complex brachydactyly 10.3 GDF5 NOG
3 autosomal dominant robinow syndrome 10.2 DVL1 WNT5A
4 brachydactyly, type c 10.2 GDF5 NOG
5 synovial chondromatosis 10.2 FGF2 NOG
6 spastic paraplegia 25, autosomal recessive 10.1 FGF13 FGF2
7 brachydactyly, type a2 10.1 GDF5 NOG
8 diffuse glomerulonephritis 10.1 FGF13 FGF2
9 tarsal-carpal coalition syndrome 10.1 NOG YIPF2
10 gastric signet ring cell adenocarcinoma 10.1 FGF13 FGF2
11 clivus chordoma 10.1 FGF13 FGF2
12 disuse amblyopia 10.0 FGF13 FGF2
13 nonspecific interstitial pneumonia 10.0 FGF2 IFNG
14 dendritic cell tumor 10.0 CD69 IFNG
15 proximal symphalangism 10.0 GDF5 NOG YIPF2
16 multiple synostoses syndrome 10.0 GDF5 NOG YIPF2
17 crouzon syndrome 9.9 FGF13 FGF2
18 refractory celiac disease 9.8 IFNG IL15
19 muenke syndrome 9.8 FGF13 FGF2
20 rasmussen encephalitis 9.7 IFNG IL15
21 autoimmune disease of gastrointestinal tract 9.7 IFNG IL15
22 brachydactyly, type b1 9.6 DVL1 FGF13 FGF2 NOG WNT5A

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
2 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
3 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
4 short distal phalanx of toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0001857
5 type b brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0005831
6 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
7 synostosis of carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0005048
8 symphalangism affecting the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009773
9 cutaneous finger syndactyly 33 frequent (33%) HP:0010554
10 proximal placement of thumb 33 frequent (33%) HP:0009623
11 tarsal synostosis 33 frequent (33%) HP:0008368
12 aplasia/hypoplasia of the distal phalanges of the toes 33 frequent (33%) HP:0010185
13 aplasia/hypoplasia of the middle phalanges of the hand 33 frequent (33%) HP:0009843
14 aplasia/hypoplasia of the nails 33 frequent (33%) HP:0008386
15 cutaneous syndactyly of toes 33 frequent (33%) HP:0010621
16 aplasia/hypoplasia of the distal phalanges of the hand 33 frequent (33%) HP:0009835
17 absent phalangeal crease 33 frequent (33%) HP:0006109
18 aplasia/hypoplasia of the middle phalanges of the toes 33 frequent (33%) HP:0010194
19 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
20 hypermetropia 33 occasional (7.5%) HP:0000540
21 short 1st metacarpal 33 very rare (1%) HP:0010034
22 carpal synostosis 33 very rare (1%) HP:0009702
23 distal symphalangism of hands 33 very rare (1%) HP:0001204
24 proximal symphalangism of hands 33 very rare (1%) HP:0006152
25 short toe 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Brachydactyly, Type B2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 DVL1 FGF13 FGF2 GDF5 IFNG IL15
2 reproductive system MP:0005389 9.43 FGF2 GDF5 IFNG IL15 NOG WNT5A
3 skeleton MP:0005390 9.17 CD69 DVL1 FGF2 GDF5 IFNG 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 30 NOG

Anatomical Context for Brachydactyly, Type B2

MalaCards organs/tissues related to Brachydactyly, Type B2:

42
Bone, Eye

Publications for Brachydactyly, Type B2

Articles related to Brachydactyly, Type B2:

# Title Authors Year
1
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. ( 18440889 )
2008
2
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. ( 17668388 )
2007
3
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. ( 11857750 )
2002
4
Bmp4 mediates apoptotic cell death in the developing chick eye. ( 11160400 )
2001
5
BMP4 is essential for lens induction in the mouse embryo. ( 9851982 )
1998

Variations for Brachydactyly, Type B2

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

76
# 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.499C> G (p.Arg167Gly) single nucleotide variant Pathogenic rs121908949 GRCh38 Chromosome 17, 56594722: 56594722
3 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
4 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326
5 NOG NM_005450.4(NOG): c.103C> G (p.Pro35Ala) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
6 NOG NM_005450.4(NOG): c.103C> G (p.Pro35Ala) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326

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:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 DVL1 FGF13 FGF2 GDF5 WNT5A
2 12.44 DVL1 FGF2 IFNG IL15 WNT5A
3
Show member pathways
12.11 DVL1 FGF2 NOG WNT5A
4 12.09 DVL1 IL15 WNT5A
5 11.9 DVL1 IFNG WNT5A
6
Show member pathways
11.87 DVL1 FGF2 WNT5A
7 11.84 DVL1 GDF5 WNT5A
8 11.78 DVL1 FGF2 WNT5A
9 11.67 CD69 IFNG IL15
10
Show member pathways
11.67 FGF13 FGF2 GDF5 IFNG IL15
11 11.58 FGF13 FGF2 NOG WNT5A
12
Show member pathways
11.56 FGF13 FGF2 GDF5 IFNG IL15
13 11.55 GDF5 IFNG NOG
14 11.07 IFNG IL15
15 11.03 DVL1 WNT5A
16 11.01 IFNG IL15
17 10.74 FGF13 FGF2 GDF5 IL15
18 10.61 FGF2 GDF5 NOG WNT5A

GO Terms for Brachydactyly, Type B2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 FGF2 GDF5 IFNG IL15 NOG TGFBI
2 extracellular region GO:0005576 9.23 FGF13 FGF2 GDF5 IFNG IL15 NOG

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.87 FGF2 IFNG IL15 WNT5A
2 cell-cell signaling GO:0007267 9.77 FGF13 GDF5 IL15
3 axon guidance GO:0007411 9.76 DVL1 NOG WNT5A
4 positive regulation of protein phosphorylation GO:0001934 9.73 DVL1 IFNG WNT5A
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.69 DVL1 NOG WNT5A
6 negative regulation of BMP signaling pathway GO:0030514 9.62 NOG WNT5A
7 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.62 DVL1 WNT5A
8 embryonic skeletal system development GO:0048706 9.61 NOG WNT5A
9 wound healing GO:0042060 9.61 FGF2 NOG WNT5A
10 epithelial to mesenchymal transition GO:0001837 9.6 NOG WNT5A
11 negative regulation of smooth muscle cell proliferation GO:0048662 9.58 IFNG IL15
12 cochlea morphogenesis GO:0090103 9.55 DVL1 WNT5A
13 non-canonical Wnt signaling pathway GO:0035567 9.54 DVL1 WNT5A
14 cartilage development GO:0051216 9.54 GDF5 NOG WNT5A
15 regulation of cellular protein localization GO:1903827 9.52 DVL1 WNT5A
16 somite development GO:0061053 9.49 NOG WNT5A
17 presynapse assembly GO:0099054 9.48 DVL1 WNT5A
18 planar cell polarity pathway involved in neural tube closure GO:0090179 9.46 DVL1 WNT5A
19 positive regulation of neuron projection arborization GO:0150012 9.4 DVL1 WNT5A
20 chondroblast differentiation GO:0060591 9.32 FGF2 GDF5
21 chondrocyte differentiation GO:0002062 9.3 TGFBI
22 convergent extension involved in organogenesis GO:0060029 9.26 DVL1 WNT5A
23 notochord morphogenesis GO:0048570 9.16 NOG WNT5A
24 neural tube development GO:0021915 9.13 DVL1 NOG WNT5A
25 regulation of signaling receptor activity GO:0010469 9.1 FGF13 FGF2 GDF5 IFNG IL15 WNT5A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.7 CD69 DVL1 FGF13 FGF2 GDF5 IFNG
2 growth factor activity GO:0008083 9.33 FGF13 FGF2 GDF5
3 frizzled binding GO:0005109 9.26 DVL1 WNT5A
4 cytokine activity GO:0005125 9.02 FGF2 GDF5 IFNG IL15 WNT5A

Sources for Brachydactyly, Type B2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....