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 49 11 22 65
Brachydactyly B2 67 24
 
Bdb2 22 67
Brachydactyly Type B2 51

Characteristics:

HPO:

61
brachydactyly, type b2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 611377
Orphanet51 140908
ICD10 via Orphanet28 Q73.8
MedGen34 C1969652
MeSH36 D059327
UMLS65 C1969652

Summaries for Brachydactyly, Type B2

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OMIM:49 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:67 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 for Brachydactyly, Type B2

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Symptoms by clinical synopsis from OMIM:

611377

Clinical features from OMIM:

611377

Symptoms:

 51 (show all 9)
  • short hand/brachydactyly
  • terminal/third phalangeal bone of fingers hypoplasia
  • short foot/brachydactyly of toes
  • distal phalangeal bones of toes hypoplasia/absence
  • absent/small fingernails/anonychia of hands
  • autosomal dominant inheritance
  • carpal bones fusion/synostosis
  • syndactyly of fingers/interdigital palm
  • symphalangy of fingers

HPO human phenotypes related to Brachydactyly, Type B2:

(show all 24)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome hallmark (90%) HP:0001156
2 anonychia hallmark (90%) HP:0001798
3 short toe hallmark (90%) HP:0001831
4 short distal phalanx of finger hallmark (90%) HP:0009882
5 aplasia/hypoplasia of the distal phalanges of the toes hallmark (90%) HP:0010185
6 absent phalangeal crease common (75%) HP:0006109
7 aplasia/hypoplasia of the nails common (75%) HP:0008386
8 proximal placement of thumb common (75%) HP:0009623
9 aplasia/hypoplasia of the distal phalanges of the hand common (75%) HP:0009835
10 synostosis of carpal bones typical (50%) HP:0005048
11 finger syndactyly typical (50%) HP:0006101
12 tarsal synostosis typical (50%) HP:0008368
13 symphalangism affecting the phalanges of the hand typical (50%) HP:0009773
14 aplasia/hypoplasia of the middle phalanges of the hand typical (50%) HP:0009843
15 aplasia/hypoplasia of the distal phalanges of the toes frequent (33%) HP:0010185
16 aplasia/hypoplasia of the middle phalanges of the toes frequent (33%) HP:0010194
17 cutaneous finger syndactyly frequent (33%) HP:0010554
18 cutaneous syndactyly of toes frequent (33%) HP:0010621
19 proximal symphalangism (hands) 16% HP:0006152
20 carpal synostosis 10% HP:0009702
21 sensorineural hearing impairment occasional (7.5%) HP:0000407
22 hypermetropia occasional (7.5%) HP:0000540
23 short 1st metacarpal 7% HP:0010034
24 distal symphalangism (hands) rare (5%) HP:0001204

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 B222 NOG

Anatomical Context for Brachydactyly, Type B2

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MalaCards organs/tissues related to Brachydactyly, Type B2:

33
Bone

Animal Models for Brachydactyly, Type B2 or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35SerVAR_018324rs28937580
2NOGp.Pro35AlaVAR_036997
3NOGp.Ala36ProVAR_036998
4NOGp.Glu48LysVAR_036999
5NOGp.Arg167GlyVAR_037000
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)single nucleotide variantPathogenicrs121908949GRCh37Chr 17, 54672083: 54672083
2NOGNM_005450.4(NOG): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687
3NOGNM_005450.4(NOG): c.103C> G (p.Pro35Ala)single nucleotide variantPathogenicrs28937580GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet