MCID: SCN065
MIFTS: 8

Second Metatarsal-Metacarpal Syndrome

Aliases & Classifications for Second Metatarsal-Metacarpal Syndrome

MalaCards integrated aliases for Second Metatarsal-Metacarpal Syndrome:

Name: Second Metatarsal-Metacarpal Syndrome 56 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
second metatarsal-metacarpal syndrome:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 269630
MedGen 41 C1849259
SNOMED-CT via HPO 68 258211005
UMLS 71 C1849259

Summaries for Second Metatarsal-Metacarpal Syndrome

MalaCards based summary : Second Metatarsal-Metacarpal Syndrome Related phenotypes are abnormal metacarpal morphology and platyspondyly

More information from OMIM: 269630

Related Diseases for Second Metatarsal-Metacarpal Syndrome

Symptoms & Phenotypes for Second Metatarsal-Metacarpal Syndrome

Human phenotypes related to Second Metatarsal-Metacarpal Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 abnormal metacarpal morphology 31 HP:0005916
2 platyspondyly 31 HP:0000926
3 synostosis of carpals/tarsals 31 HP:0100266

Symptoms via clinical synopsis from OMIM:

56
Skel:
platyspondyly
metacarpal and metatarsal asymmetry
carpal and tarsal fusions

Clinical features from OMIM:

269630

Drugs & Therapeutics for Second Metatarsal-Metacarpal Syndrome

Search Clinical Trials , NIH Clinical Center for Second Metatarsal-Metacarpal Syndrome

Genetic Tests for Second Metatarsal-Metacarpal Syndrome

Anatomical Context for Second Metatarsal-Metacarpal Syndrome

Publications for Second Metatarsal-Metacarpal Syndrome

Articles related to Second Metatarsal-Metacarpal Syndrome:

# Title Authors PMID Year
1
Christian's spondylo-digital syndrome: second familial case. 56
8825607 1995
2
A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly. 56
168022 1975

Variations for Second Metatarsal-Metacarpal Syndrome

Expression for Second Metatarsal-Metacarpal Syndrome

Search GEO for disease gene expression data for Second Metatarsal-Metacarpal Syndrome.

Pathways for Second Metatarsal-Metacarpal Syndrome

GO Terms for Second Metatarsal-Metacarpal Syndrome

Sources for Second Metatarsal-Metacarpal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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