CMT4K
MCID: CHR609
MIFTS: 26

Charcot-Marie-Tooth Disease, Type 4k (CMT4K)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4k

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4k:

Name: Charcot-Marie-Tooth Disease, Type 4k 58 30 6
Cmt4k 58 12 60 76
Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k 58 76
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k 58 76
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease 12 60
Surf1-Related Charcot-Marie-Tooth Disease Type 4 12 60
Charcot-Marie-Tooth Disease Type 4k 12 60
Surf1-Related Cmt4 12 60
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k 12
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k 12
Charcot-Marie-Tooth Disease, Demyelinating, Type 4k 76
Charcot-Marie-Tooth Neuropathy, Type 4k 76
Charcot-Marie-Tooth Disease 4k 76

Characteristics:

Orphanet epidemiological data:

60
surf1-related charcot-marie-tooth disease type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in first decade
three patients from 2 unrelated families have been reported (last curated december 2015)


HPO:

33
charcot-marie-tooth disease, type 4k:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110187
OMIM 58 616684
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA391351

Summaries for Charcot-Marie-Tooth Disease, Type 4k

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 4K: An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4k, also known as cmt4k, is related to leigh syndrome. An important gene associated with Charcot-Marie-Tooth Disease, Type 4k is SURF1 (SURF1 Cytochrome C Oxidase Assembly Factor). Affiliated tissues include skeletal muscle, and related phenotypes are ataxia and sensorineural hearing impairment

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.

OMIM : 58 Charcot-Marie-Tooth disease type 4K is an autosomal recessive demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation. Both upper and lower limbs are affected. Affected individuals may also have nystagmus and late-onset cerebellar ataxia. Laboratory studies show increased serum lactate and isolated mitochondrial complex IV deficiency (summary by Echaniz-Laguna et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). (616684)

Related Diseases for Charcot-Marie-Tooth Disease, Type 4k

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Type 4k via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 9.5 SURF1 SURF2

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4k

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4k:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 sensorineural hearing impairment 33 HP:0000407
3 skeletal muscle atrophy 33 HP:0003202
4 peripheral neuropathy 33 HP:0009830
5 dystonia 33 HP:0001332
6 increased serum lactate 33 HP:0002151
7 kyphoscoliosis 33 HP:0002751
8 easy fatigability 33 HP:0003388
9 areflexia 33 HP:0001284
10 difficulty walking 33 HP:0002355
11 horizontal nystagmus 33 HP:0000666
12 peripheral demyelination 33 HP:0011096
13 axonal loss 33 HP:0003447

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Skeletal Spine:
kyphoscoliosis

Head And Neck Ears:
hearing loss, sensorineural, mild

Neurologic Central Nervous System:
cerebellar ataxia, late-onset (in some patients)
hyperintense lesions in the putamina (1 patient)
periaqueductal white matter lesions (1 patient)

Laboratory Abnormalities:
increased serum lactate

Neurologic Peripheral Nervous System:
difficulty walking
hypo- or areflexia
sural nerve biopsy shows axonal loss
demyelinating sensorimotor peripheral neuropathy
sural nerve biopsy shows hypomyelinated fibers

Muscle Soft Tissue:
distal muscle weakness, upper and lower limbs, due to peripheral neuropathy
distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy mitochondrial complex iv deficiency

Clinical features from OMIM:

616684

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4k

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4k

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4k

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4k:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4k 30 SURF1

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4k

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 4k:

42
Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, Type 4k

Articles related to Charcot-Marie-Tooth Disease, Type 4k:

# Title Authors Year
1
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. ( 24027061 )
2013

Variations for Charcot-Marie-Tooth Disease, Type 4k

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4k:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh37 Chromosome 9, 136218825: 136218826
2 SURF1 NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs) deletion Pathogenic rs782316919 GRCh38 Chromosome 9, 133351970: 133351971
3 SURF1 NM_003172.3(SURF1): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs782190413 GRCh37 Chromosome 9, 136219563: 136219563
4 SURF1 NM_003172.3(SURF1): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs782190413 GRCh38 Chromosome 9, 133352708: 133352708
5 SURF1 NM_003172.3(SURF1): c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs) indel Pathogenic rs863224228 GRCh37 Chromosome 9, 136221516: 136221525
6 SURF1 NM_003172.3(SURF1): c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs) indel Pathogenic rs863224228 GRCh38 Chromosome 9, 133354661: 133354670
7 SURF1 NM_003172.3(SURF1): c.107-2A> G single nucleotide variant Pathogenic rs782726390 GRCh37 Chromosome 9, 136221814: 136221814
8 SURF1 NM_003172.3(SURF1): c.107-2A> G single nucleotide variant Pathogenic rs782726390 GRCh38 Chromosome 9, 133354959: 133354959
9 SURF1 NM_003172.3(SURF1): c.799_800delCT (p.Leu267Glufs) deletion Pathogenic rs864309500 GRCh37 Chromosome 9, 136218949: 136218950
10 SURF1 NM_003172.3(SURF1): c.799_800delCT (p.Leu267Glufs) deletion Pathogenic rs864309500 GRCh38 Chromosome 9, 133352094: 133352095
11 SURF1 NM_003172.3(SURF1): c.814_815insGAGCATC (p.Leu272Argfs) insertion Uncertain significance rs1554768224 GRCh38 Chromosome 9, 133352079: 133352080
12 SURF1 NM_003172.3(SURF1): c.814_815insGAGCATC (p.Leu272Argfs) insertion Uncertain significance rs1554768224 GRCh37 Chromosome 9, 136218934: 136218935
13 SURF1 NM_003172.3(SURF1): c.588+1G> A single nucleotide variant not provided rs1219762677 GRCh38 Chromosome 9, 133352693: 133352693
14 SURF1 NM_003172.3(SURF1): c.588+1G> A single nucleotide variant not provided rs1219762677 GRCh37 Chromosome 9, 136219548: 136219548

Expression for Charcot-Marie-Tooth Disease, Type 4k

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4k.

Pathways for Charcot-Marie-Tooth Disease, Type 4k

GO Terms for Charcot-Marie-Tooth Disease, Type 4k

Sources for Charcot-Marie-Tooth Disease, Type 4k

3 CDC
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9 Cosmic
10 dbSNP
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17 EFO
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20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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