CMTMA1
MCID: CHR706
MIFTS: 12

Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 (CMTMA1)

Categories: Neuronal diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1:

Name: Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 57 6
Cmtma1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
onset in the second decade (range first decade to late adulthood)
one large family from venezuela has been reported (last curated january 2021)

Inheritance:
mitochondrial


Classifications:



External Ids:

OMIM® 57 500013

Summaries for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

OMIM® : 57 Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020). (500013) (Updated 05-Apr-2021)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1, is also known as cmtma1. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 is MT-TV (Mitochondrially Encoded TRNA-Val (GUN)). Affiliated tissues include skeletal muscle.

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic paraparesis
unsteady gait
sensory ataxia
extensor plantar responses

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
sensorimotor axonal peripheral neuropathy
distal muscle weakness due to neuropathy
more
Respiratory Larynx:
vocal cord paresis

Muscle Soft Tissue:
atrophic fibers
fiber type grouping
lower limbs more affected than upper limbs
upper limb involvement
distal muscle weakness due to neuropathy
more
Laboratory Abnormalities:
decreased activity of mitochondrial respiratory complexes i+iii and iv in patient skeletal muscle tissue

Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus
foot deformities
pes equinovarus
claw feet

Genitourinary Bladder:
neurogenic bladder

Skeletal Hands:
claw hands

Clinical features from OMIM®:

500013 (Updated 05-Apr-2021)

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1:

40
Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Articles related to Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1:

# Title Authors PMID Year
1
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. 6 57
32715519 2020

Variations for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TV NC_012920.1:m.1661A>G SNV Pathogenic 370043 rs1057516055 GRCh37: MT:1661-1661
GRCh38: MT:1661-1661

Expression for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

Sources for Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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