MCID: CHR609
MIFTS: 24

Charcot-Marie-Tooth Disease, Type 4k

Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Metabolic 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 53 28
Cmt4k 53 12 55 71
Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k 53 71
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k 53 71
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease 12 55
Surf1-Related Charcot-Marie-Tooth Disease Type 4 12 55
Charcot-Marie-Tooth Disease Type 4k 12 55
Surf1-Related Cmt4 12 55
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 71
Charcot-Marie-Tooth Neuropathy, Type 4k 71
Charcot-Marie-Tooth Disease 4k 71

Characteristics:

Orphanet epidemiological data:

55
surf1-related charcot-marie-tooth disease type 4
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
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:

31
charcot-marie-tooth disease, type 4k:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 616684
Disease Ontology 12 DOID:0110187
ICD10 32 G60.0
Orphanet 55 ORPHA391351
ICD10 via Orphanet 33 G60.0
MeSH 41 D002607

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

UniProtKB/Swiss-Prot : 71 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, is also known as cmt4k, and has symptoms including ataxia, dystonia and sensorineural hearing impairment. An important gene associated with Charcot-Marie-Tooth Disease, Type 4k is SURF1 (SURF1, Cytochrome C Oxidase Assembly Factor). Affiliated tissues include skeletal muscle.

OMIM : 53 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)

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.

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 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 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nystagmus

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

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

Skeletal Spine:
kyphoscoliosis

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

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dystonia 31 HP:0001332
3 sensorineural hearing impairment 31 HP:0000407
4 skeletal muscle atrophy 31 HP:0003202
5 peripheral neuropathy 31 HP:0009830
6 increased serum lactate 31 HP:0002151
7 difficulty walking 31 HP:0002355
8 kyphoscoliosis 31 HP:0002751
9 peripheral demyelination 31 HP:0011096
10 horizontal nystagmus 31 HP:0000666
11 easy fatigability 31 HP:0003388
12 axonal loss 31 HP:0003447

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 28 SURF1

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

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

38
Skeletal Muscle

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

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

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

6
# 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.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs782190413 GRCh37 Chromosome 9, 136219563: 136219563
3 SURF1 NM_003172.3(SURF1): c.107-2A> G single nucleotide variant Pathogenic rs782726390 GRCh37 Chromosome 9, 136221814: 136221814
4 SURF1 NM_003172.3(SURF1): c.799_800delCT (p.Leu267Glufs) deletion Pathogenic rs864309500 GRCh37 Chromosome 9, 136218949: 136218950

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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