SYM1B
MCID: SYM019
MIFTS: 25

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 57 29 6 71
Sym1b 57 73
Symphalangism, Proximal, Type 1b 39
Symphalangism, Proximal 1b 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
symphalangism, proximal, 1b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615298
OMIM Phenotypic Series 57 PS185800
MeSH 44 D007592
SNOMED-CT via HPO 68 203534009 263681008 53226007
UMLS 71 C3809104

Summaries for Symphalangism, Proximal, 1b

UniProtKB/Swiss-Prot : 73 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 and multiple synostoses syndrome 2. 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 clinodactyly of the 5th finger

More information from OMIM: 615298 PS185800

Related Diseases for Symphalangism, Proximal, 1b

Graphical network of the top 20 diseases related to Symphalangism, Proximal, 1b:



Diseases related to Symphalangism, Proximal, 1b

Symptoms & Phenotypes for Symphalangism, Proximal, 1b

Human phenotypes related to Symphalangism, Proximal, 1b:

31
# Description HPO Frequency HPO Source Accession
1 pes planus 31 HP:0001763
2 clinodactyly of the 5th finger 31 HP:0004209
3 short 2nd finger 31 HP:0009536
4 abnormal finger flexion creases 31 HP:0006143
5 proximal/middle symphalangism of 5th finger 31 HP:0009177

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Feet:
pes planus
short halluces
short first metatarsals
short toes 3-5
biphalangeal toes 2-5
more
Skin Nails Hair Skin:
absent proximal interphalangeal creases of fingers 2-5

Skeletal Hands:
fifth finger clinodactyly
short hands
short first metacarpals
absent proximal interphalangeal creases of fingers 2-5
partial/complete proximal interphalangeal (pip) joint synostosis
more

Clinical features from OMIM®:

615298 (Updated 05-Mar-2021)

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:

40
Bone

Publications for Symphalangism, Proximal, 1b

Articles related to Symphalangism, Proximal, 1b:

# Title Authors PMID Year
1
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. 6 57
18283415 2008
2
A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families. 6 57
16892395 2006
3
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 57 6
16127465 2005
4
GDF5 is a second locus for multiple-synostosis syndrome. 6
16532400 2006
5
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling. 61
31694554 2019
6
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. 61
28032038 2016

Variations for Symphalangism, Proximal, 1b

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDF5-AS1 NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) SNV Pathogenic 8386 rs74315388 20:34021900-34021900 20:35434102-35434102
2 GDF5-AS1 NM_000557.5(GDF5):c.1471G>A (p.Glu491Lys) SNV Pathogenic 8389 rs74315389 20:34021742-34021742 20:35433944-35433944
3 GDF5-AS1 NM_000557.5(GDF5):c.1118T>G (p.Leu373Arg) SNV Pathogenic 8392 rs121909349 20:34022095-34022095 20:35434297-35434297

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

73
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Arg438Leu VAR_026545 rs74315388
2 GDF5 p.Glu491Lys VAR_037983 rs74315389
3 GDF5 p.Leu373Arg VAR_054909 rs121909349

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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