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

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Aliases & Descriptions for Brachydactyly, Type B2:

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

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
Orphanet54 ORPHA140908
ICD10 via Orphanet31 Q73.8
MedGen37 C1969652
MeSH39 D059327

Summaries for Brachydactyly, Type B2

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OMIM:52 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: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.

Related Diseases for Brachydactyly, Type B2

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Symptoms & Phenotypes for Brachydactyly, Type B2

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Symptoms by clinical synopsis from OMIM:

611377

Clinical features from OMIM:

611377

Human phenotypes related to Brachydactyly, Type B2:

 64 54 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly syndrome64 hallmark (90%) HP:0001156
2 anonychia64 hallmark (90%) HP:0001798
3 short toe64 54 hallmark (90%) Very frequent (99-80%) HP:0001831
4 short distal phalanx of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes64 hallmark (90%) HP:0010185
6 absent phalangeal crease64 common (75%) HP:0006109
7 aplasia/hypoplasia of the nails64 common (75%) HP:0008386
8 proximal placement of thumb64 common (75%) HP:0009623
9 aplasia/hypoplasia of the distal phalanges of the hand64 common (75%) HP:0009835
10 synostosis of carpal bones64 54 typical (50%) Frequent (79-30%) HP:0005048
11 finger syndactyly64 54 typical (50%) Frequent (79-30%) HP:0006101
12 tarsal synostosis64 typical (50%) HP:0008368
13 symphalangism affecting the phalanges of the hand64 54 typical (50%) Frequent (79-30%) HP:0009773
14 aplasia/hypoplasia of the middle phalanges of the hand64 typical (50%) HP:0009843
15 aplasia/hypoplasia of the middle phalanges of the toes64 frequent (33%) HP:0010194
16 cutaneous finger syndactyly64 frequent (33%) HP:0010554
17 cutaneous syndactyly of toes64 frequent (33%) HP:0010621
18 proximal symphalangism of hands64 16% HP:0006152
19 carpal synostosis64 10% HP:0009702
20 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
21 hypermetropia64 occasional (7.5%) HP:0000540
22 short 1st metacarpal64 7% HP:0010034
23 distal symphalangism of hands64 rare (5%) HP:0001204
24 short foot54 Very frequent (99-80%)
25 absent fingernail54 Very frequent (99-80%)
26 short distal phalanx of toe54 Very frequent (99-80%)
27 type b brachydactyly54 Very frequent (99-80%)

Drugs & Therapeutics for Brachydactyly, Type B2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachydactyly, Type B2

Genetic Tests for Brachydactyly, Type B2

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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

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MalaCards organs/tissues related to Brachydactyly, Type B2:

36
Bone

Publications for Brachydactyly, Type B2

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Variations for Brachydactyly, Type B2

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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

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

Pathways for genes affiliated with Brachydactyly, Type B2

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GO Terms for genes affiliated with Brachydactyly, Type B2

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Sources for Brachydactyly, Type B2

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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