MCID: BRC052
MIFTS: 23

Brachydactyly, Type B2 malady

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

Aliases & Classifications for Brachydactyly, Type B2

About this section

Aliases & Descriptions for Brachydactyly, Type B2:

Name: Brachydactyly, Type B2 51 24 12 67
Brachydactyly B2 69 26
 
Bdb2 24 69
Brachydactyly Type B2 53

Characteristics:

Orphanet epidemiological data:

53
brachydactyly type b2:
Inheritance: Autosomal dominant

HPO:

63
brachydactyly, type b2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 611377
Orphanet53 ORPHA140908
ICD10 via Orphanet30 Q73.8
MedGen36 C1969652
MeSH38 D059327

Summaries for Brachydactyly, Type B2

About this section
OMIM:51 Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in... (611377) more...

MalaCards based summary: Brachydactyly, Type B2, is also known as brachydactyly b2, and has symptoms including brachydactyly syndrome, anonychia and short toe. An important gene associated with Brachydactyly, Type B2 is NOG (Noggin). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 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

About this section

Symptoms 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:

 63 53 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome63 hallmark (90%) HP:0001156
2 anonychia63 hallmark (90%) HP:0001798
3 short toe63 53 hallmark (90%) Very frequent (99-80%) HP:0001831
4 short distal phalanx of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes63 hallmark (90%) HP:0010185
6 absent phalangeal crease63 common (75%) HP:0006109
7 aplasia/hypoplasia of the nails63 common (75%) HP:0008386
8 proximal placement of thumb63 common (75%) HP:0009623
9 aplasia/hypoplasia of the distal phalanges of the hand63 common (75%) HP:0009835
10 synostosis of carpal bones63 53 typical (50%) Frequent (79-30%) HP:0005048
11 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
12 tarsal synostosis63 typical (50%) HP:0008368
13 symphalangism affecting the phalanges of the hand63 53 typical (50%) Frequent (79-30%) HP:0009773
14 aplasia/hypoplasia of the middle phalanges of the hand63 typical (50%) HP:0009843
15 aplasia/hypoplasia of the middle phalanges of the toes63 frequent (33%) HP:0010194
16 cutaneous finger syndactyly63 frequent (33%) HP:0010554
17 cutaneous syndactyly of toes63 frequent (33%) HP:0010621
18 proximal symphalangism of hands63 16% HP:0006152
19 carpal synostosis63 10% HP:0009702
20 sensorineural hearing impairment63 occasional (7.5%) HP:0000407
21 hypermetropia63 occasional (7.5%) HP:0000540
22 short 1st metacarpal63 7% HP:0010034
23 distal symphalangism of hands63 rare (5%) HP:0001204
24 short foot53 Very frequent (99-80%)
25 absent fingernail53 Very frequent (99-80%)
26 short distal phalanx of toe53 Very frequent (99-80%)
27 type b brachydactyly53 Very frequent (99-80%)

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 B226
2 Brachydactyly, Type B224 NOG

Anatomical Context for Brachydactyly, Type B2

About this section

MalaCards organs/tissues related to Brachydactyly, Type B2:

35
Bone

Animal Models for Brachydactyly, Type B2 or affiliated genes

About this section

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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet