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

About this section

Aliases & Descriptions for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 52 24 12 68
Bdb2 11 24 70
 
Brachydactyly Type B2 11 54
Brachydactyly B2 70 27

Characteristics:

Orphanet epidemiological data:

54
brachydactyly type b2:
Inheritance: Autosomal dominant

HPO:

64
brachydactyly, type b2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 611377
Disease Ontology11 DOID:0110975
ICD1030 Q73.8
Orphanet54 ORPHA140908
ICD10 via Orphanet31 Q73.8
MedGen37 C1969652
MeSH39 D059327

Summaries for Brachydactyly, Type B2

About this section
Disease Ontology:11 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 Array, Array and Array. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:70 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:52 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

About this section

Symptoms & Phenotypes for Brachydactyly, Type B2

About this section

Symptoms by clinical synopsis from OMIM:

611377

Clinical features from OMIM:

611377

Human phenotypes related to Brachydactyly, Type B2:

 54 64 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short foot64 54 Very frequent (99-80%) HP:0001773
2 absent fingernail64 54 Very frequent (99-80%) HP:0001817
3 short toe54 Very frequent (99-80%)
4 short distal phalanx of toe64 54 Very frequent (99-80%) HP:0001857
5 synostosis of carpal bones64 54 Frequent (79-30%) HP:0005048
6 type b brachydactyly64 54 Very frequent (99-80%) HP:0005831
7 finger syndactyly64 54 Frequent (79-30%) HP:0006101
8 symphalangism affecting the phalanges of the hand64 54 Frequent (79-30%) HP:0009773
9 short distal phalanx of finger64 54 Very frequent (99-80%) HP:0009882
10 sensorineural hearing impairment64 HP:0000407
11 hypermetropia64 HP:0000540
12 distal symphalangism of hands64 HP:0001204
13 absent phalangeal crease64 HP:0006109
14 proximal symphalangism of hands64 HP:0006152
15 tarsal synostosis64 HP:0008368
16 aplasia/hypoplasia of the nails64 HP:0008386
17 proximal placement of thumb64 HP:0009623
18 carpal synostosis64 HP:0009702
19 aplasia/hypoplasia of the distal phalanges of the hand64 HP:0009835
20 aplasia/hypoplasia of the middle phalanges of the hand64 HP:0009843
21 short 1st metacarpal64 HP:0010034
22 aplasia/hypoplasia of the distal phalanges of the toes64 HP:0010185
23 aplasia/hypoplasia of the middle phalanges of the toes64 HP:0010194
24 cutaneous finger syndactyly64 HP:0010554
25 cutaneous syndactyly of toes64 HP:0010621

Drugs & Therapeutics for Brachydactyly, Type B2

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

About this section

Genetic tests related to Brachydactyly, Type B2:

id Genetic test Affiliating Genes
1 Brachydactyly Type B227
2 Brachydactyly, Type B224 NOG

Anatomical Context for Brachydactyly, Type B2

About this section

MalaCards organs/tissues related to Brachydactyly, Type B2:

36
Bone

Publications for Brachydactyly, Type B2

About this section

Variations for Brachydactyly, Type B2

About this section

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

70
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35SerVAR_018324rs28937580
2NOGp.Pro35AlaVAR_036997rs28937580
3NOGp.Ala36ProVAR_036998
4NOGp.Glu48LysVAR_036999
5NOGp.Arg167GlyVAR_037000rs121908949
6NOGp.Pro187SerVAR_037001

Clinvar genetic disease variations for Brachydactyly, Type B2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_ 005450.4(NOG): c.499C> G (p.Arg167Gly)SNVPathogenicrs121908949GRCh37Chr 17, 54672083: 54672083
2NOGNM_ 005450.4(NOG): c.103C> T (p.Pro35Ser)SNVPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687
3NOGNM_ 005450.4(NOG): c.103C> G (p.Pro35Ala)SNVPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687

Expression for genes affiliated with Brachydactyly, Type B2

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

Pathways for genes affiliated with Brachydactyly, Type B2

About this section

GO Terms for genes affiliated with Brachydactyly, Type B2

About this section

Sources for Brachydactyly, Type B2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet