MCID: MYP122
MIFTS: 13

Myopathy, Congenital, with Neuropathy and Deafness

Categories: Genetic diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Myopathy, Congenital, with Neuropathy and Deafness

MalaCards integrated aliases for Myopathy, Congenital, with Neuropathy and Deafness:

Name: Myopathy, Congenital, with Neuropathy and Deafness 57 75 6
Cmnd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one patient born of consanguineous kurdish parents has been reported (last curated june 2017)


Classifications:



External Ids:

OMIM 57 617519
MeSH 44 D009468

Summaries for Myopathy, Congenital, with Neuropathy and Deafness

UniProtKB/Swiss-Prot : 75 Myopathy, congenital, with neuropathy and deafness: An autosomal recessive congenital myopathy characterized by hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem- evoked potentials, and a combined axonal and demyelinating motor neuropathy.

MalaCards based summary : Myopathy, Congenital, with Neuropathy and Deafness, is also known as cmnd. An important gene associated with Myopathy, Congenital, with Neuropathy and Deafness is SPTBN4 (Spectrin Beta, Non-Erythrocytic 4).

Description from OMIM: 617519

Related Diseases for Myopathy, Congenital, with Neuropathy and Deafness

Symptoms & Phenotypes for Myopathy, Congenital, with Neuropathy and Deafness

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
absent head control

Head And Neck Ears:
deafness, central
absent brainstem evoked potentials

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Feet:
ankle contractures

Neurologic Central Nervous System:
delayed psychomotor development
absent speech

Laboratory Abnormalities:
normal serum creatine kinase

Head And Neck Face:
facial weakness
myopathic facies

Head And Neck Mouth:
high-arched palate

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
hypotonia, severe
inability to sit or stand
generalized muscle atrophy
distal muscle atrophy
type 1 fiber atrophy

Neurologic Peripheral Nervous System:
areflexia
axonal and demyelinating peripheral neuropathy


Clinical features from OMIM:

617519

Drugs & Therapeutics for Myopathy, Congenital, with Neuropathy and Deafness

Search Clinical Trials , NIH Clinical Center for Myopathy, Congenital, with Neuropathy and Deafness

Genetic Tests for Myopathy, Congenital, with Neuropathy and Deafness

Anatomical Context for Myopathy, Congenital, with Neuropathy and Deafness

Publications for Myopathy, Congenital, with Neuropathy and Deafness

Variations for Myopathy, Congenital, with Neuropathy and Deafness

ClinVar genetic disease variations for Myopathy, Congenital, with Neuropathy and Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTBN4 NM_020971.2(SPTBN4): c.1597C> T (p.Gln533Ter) single nucleotide variant Pathogenic rs1114167445 GRCh37 Chromosome 19, 41009971: 41009971
2 SPTBN4 NM_020971.2(SPTBN4): c.1597C> T (p.Gln533Ter) single nucleotide variant Pathogenic rs1114167445 GRCh38 Chromosome 19, 40504064: 40504064

Expression for Myopathy, Congenital, with Neuropathy and Deafness

Search GEO for disease gene expression data for Myopathy, Congenital, with Neuropathy and Deafness.

Pathways for Myopathy, Congenital, with Neuropathy and Deafness

GO Terms for Myopathy, Congenital, with Neuropathy and Deafness

Sources for Myopathy, Congenital, with Neuropathy and Deafness

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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