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 57 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
second metatarsal-metacarpal syndrome:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 269630
MedGen 42 C1849259
UMLS 72 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:

32
# Description HPO Frequency HPO Source Accession
1 abnormal metacarpal morphology 32 HP:0005916
2 platyspondyly 32 HP:0000926
3 synostosis of carpals/tarsals 32 HP:0100266

Symptoms via clinical synopsis from OMIM:

57
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. 8
8825607 1995
2
A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondyly. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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