MCID: MYP124
MIFTS: 14

Myopathy, Distal, Infantile-Onset

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, Infantile-Onset

MalaCards integrated aliases for Myopathy, Distal, Infantile-Onset:

Name: Myopathy, Distal, Infantile-Onset 56
Infantile-Onset Distal Myopathy 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
disorder becomes apparent around age 2 years when patients begin to walk
slowly progressive or nonprogressive


HPO:

31
myopathy, distal, infantile-onset:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070196
OMIM 56 160300
MedGen 41 C4011725

Summaries for Myopathy, Distal, Infantile-Onset

Disease Ontology : 12 A distal muscular dystrophy characterized by autosomal dominant inheritance, infantile onset and progressive disease development.

MalaCards based summary : Myopathy, Distal, Infantile-Onset, is also known as infantile-onset distal myopathy. Affiliated tissues include bone, and related phenotypes are calf muscle hypertrophy and increased connective tissue

More information from OMIM: 160300

Related Diseases for Myopathy, Distal, Infantile-Onset

Symptoms & Phenotypes for Myopathy, Distal, Infantile-Onset

Human phenotypes related to Myopathy, Distal, Infantile-Onset:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 calf muscle hypertrophy 31 occasional (7.5%) HP:0008981
2 increased connective tissue 31 HP:0009025
3 foot dorsiflexor weakness 31 HP:0009027
4 distal muscle weakness 31 HP:0002460
5 steppage gait 31 HP:0003376
6 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
steppage gait
foot drop
muscle, weakness, distal, lower limbs
muscle, weakness, distal, hands and fingers (in some patients)
calf hypertrophy (in some patients)
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

160300

Drugs & Therapeutics for Myopathy, Distal, Infantile-Onset

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, Infantile-Onset

Genetic Tests for Myopathy, Distal, Infantile-Onset

Anatomical Context for Myopathy, Distal, Infantile-Onset

MalaCards organs/tissues related to Myopathy, Distal, Infantile-Onset:

40
Bone

Publications for Myopathy, Distal, Infantile-Onset

Articles related to Myopathy, Distal, Infantile-Onset:

# Title Authors PMID Year
1
Hereditary distal myopathy with onset in infancy. 56
5834698 1965
2
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. 61
11166161 2001

Variations for Myopathy, Distal, Infantile-Onset

Expression for Myopathy, Distal, Infantile-Onset

Search GEO for disease gene expression data for Myopathy, Distal, Infantile-Onset.

Pathways for Myopathy, Distal, Infantile-Onset

GO Terms for Myopathy, Distal, Infantile-Onset

Sources for Myopathy, Distal, Infantile-Onset

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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