MCID: SYM019
MIFTS: 16

Symphalangism, Proximal, 1b

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

Aliases & Classifications for Symphalangism, Proximal, 1b

MalaCards integrated aliases for Symphalangism, Proximal, 1b:

Name: Symphalangism, Proximal, 1b 57 29 6 40 73
Sym1b 57 75
Symphalangism, Proximal 1b 75

Classifications:



External Ids:

OMIM 57 615298
MeSH 44 D007592
SNOMED-CT via HPO 69 203534009 53226007
UMLS 73 C3809104

Summaries for Symphalangism, Proximal, 1b

UniProtKB/Swiss-Prot : 75 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 11.2

Symptoms & Phenotypes for Symphalangism, Proximal, 1b

Clinical features from OMIM:

615298

Human phenotypes related to Symphalangism, Proximal, 1b:

32
# Description HPO Frequency HPO Source Accession
1 pes planus 32 HP:0001763
2 abnormal finger flexion creases 32 HP:0006143
3 proximal/middle symphalangism of 5th finger 32 HP:0009177

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 29 GDF5

Anatomical Context for Symphalangism, Proximal, 1b

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

41
Bone

Publications for Symphalangism, Proximal, 1b

Variations for Symphalangism, Proximal, 1b

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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