SYM1B
MCID: SYM019
MIFTS: 17

Symphalangism, Proximal, 1b (SYM1B)

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

Aliases & Classifications for Symphalangism, Proximal, 1b

MalaCards integrated aliases for Symphalangism, Proximal, 1b:

Name: Symphalangism, Proximal, 1b 58 30 6 41 74
Sym1b 58 76
Symphalangism, Proximal 1b 76

Classifications:



External Ids:

OMIM 58 615298
MeSH 45 D007592
SNOMED-CT via HPO 70 203534009 53226007
UMLS 74 C3809104

Summaries for Symphalangism, Proximal, 1b

UniProtKB/Swiss-Prot : 76 Symphalangism, proximal 1B: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.

MalaCards based summary : Symphalangism, Proximal, 1b, also known as sym1b, is related to proximal symphalangism. An important gene associated with Symphalangism, Proximal, 1b is GDF5 (Growth Differentiation Factor 5). Affiliated tissues include bone, and related phenotypes are pes planus and abnormal finger flexion creases

Description from OMIM: 615298

Related Diseases for Symphalangism, Proximal, 1b

Diseases in the Proximal Symphalangism family:

Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b

Diseases related to Symphalangism, Proximal, 1b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 proximal symphalangism 11.4

Symptoms & Phenotypes for Symphalangism, Proximal, 1b

Human phenotypes related to Symphalangism, Proximal, 1b:

33
# Description HPO Frequency HPO Source Accession
1 pes planus 33 HP:0001763
2 abnormal finger flexion creases 33 HP:0006143
3 proximal/middle symphalangism of 5th finger 33 HP:0009177

Clinical features from OMIM:

615298

Drugs & Therapeutics for Symphalangism, Proximal, 1b

Search Clinical Trials , NIH Clinical Center for Symphalangism, Proximal, 1b

Genetic Tests for Symphalangism, Proximal, 1b

Genetic tests related to Symphalangism, Proximal, 1b:

# Genetic test Affiliating Genes
1 Symphalangism, Proximal, 1b 30 GDF5

Anatomical Context for Symphalangism, Proximal, 1b

MalaCards organs/tissues related to Symphalangism, Proximal, 1b:

42
Bone

Publications for Symphalangism, Proximal, 1b

Variations for Symphalangism, Proximal, 1b

UniProtKB/Swiss-Prot genetic disease variations for Symphalangism, Proximal, 1b:

76
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Arg438Leu VAR_026545
2 GDF5 p.Glu491Lys VAR_037983
3 GDF5 p.Leu373Arg VAR_054909

ClinVar genetic disease variations for Symphalangism, Proximal, 1b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu) single nucleotide variant Pathogenic rs74315388 GRCh37 Chromosome 20, 34021900: 34021900
2 GDF5 NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu) single nucleotide variant Pathogenic rs74315388 GRCh38 Chromosome 20, 35434102: 35434102
3 GDF5 NM_000557.4(GDF5): c.1471G> A (p.Glu491Lys) single nucleotide variant Pathogenic rs74315389 GRCh37 Chromosome 20, 34021742: 34021742
4 GDF5 NM_000557.4(GDF5): c.1471G> A (p.Glu491Lys) single nucleotide variant Pathogenic rs74315389 GRCh38 Chromosome 20, 35433944: 35433944
5 GDF5 NM_000557.4(GDF5): c.1118T> G (p.Leu373Arg) single nucleotide variant Pathogenic rs121909349 GRCh37 Chromosome 20, 34022095: 34022095
6 GDF5 NM_000557.4(GDF5): c.1118T> G (p.Leu373Arg) single nucleotide variant Pathogenic rs121909349 GRCh38 Chromosome 20, 35434297: 35434297

Expression for Symphalangism, Proximal, 1b

Search GEO for disease gene expression data for Symphalangism, Proximal, 1b.

Pathways for Symphalangism, Proximal, 1b

GO Terms for Symphalangism, Proximal, 1b

Sources for Symphalangism, Proximal, 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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