MCID: BRC052
MIFTS: 21

Brachydactyly, Type B2 malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Brachydactyly, Type B2

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MalaCards based summary: Brachydactyly, Type B2, is also known as brachydactyly type b2, and has symptoms including short hand/brachydactyly, terminal/third phalangeal bone of fingers hypoplasia and short foot/brachydactyly of toes. An important gene associated with Brachydactyly, Type B2 is NOG (noggin). Affiliated tissues include bone.

Description from OMIM:46 611377

Aliases & Classifications for Brachydactyly, Type B2

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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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:

48 (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 25)
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 tarsal synostosis typical (50%) HP:0008368
11 aplasia/hypoplasia of the middle phalanges of the hand typical (50%) HP:0009843
12 synostosis of carpal bones typical (50%) HP:0005048
13 finger syndactyly typical (50%) HP:0006101
14 symphalangism affecting the phalanges of the hand typical (50%) HP:0009773
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
25 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Brachydactyly, Type B2

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Drug clinical trials:

Search ClinicalTrials for Brachydactyly, Type B2

Search 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 B220 NOG
2 Brachydactyly Type B222

Anatomical Context for Brachydactyly, Type B2

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MalaCards organs/tissues related to Brachydactyly, Type B2:

32
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:

64
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:

6
id Gene Name 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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Compounds for genes affiliated with Brachydactyly, Type B2

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GO Terms for genes affiliated with Brachydactyly, Type B2

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Products for genes affiliated with Brachydactyly, Type B2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Brachydactyly, Type B2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet