MCID: CHR647
MIFTS: 36

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 57 53
Charcot-Marie-Tooth Disease, Type 1c 57 29 13 6 73
Charcot-Marie-Tooth Disease Type 1c 12 53 59 15
Cmt1c 57 12 59 75
Hmsn Ic 57 12 75
Hmsn1c 57 12 75
Charcot-Marie-Tooth Neuropathy Type 1c 12 75
Neuropathy, Hereditary Motor and Sensory, Type Ic; Hmsn1c 57
Neuropathy, Hereditary Motor and Sensory, Type Ic 57
Charcot-Marie-Tooth Disease Demyelinating Type 1c 75
Neuropathy Hereditary Motor and Sensory Type 1c 12
Hereditary Motor and Sensory Neuropathy Ic 75
Charcot-Marie-Tooth Neuropathy, Type 1c 57
Charcot-Marie-Tooth Disease, Type Ic 40
Charcot Marie Tooth Disease Type 1c 53
Cmt, Slow Nerve Conduction Type C 57
Cmt Slow Nerve Conduction Type C 12
Charcot-Marie-Tooth Disease 1c 75
Cmt 1c 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 1c
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in childhood
genetic heterogeneity (see cmt1b, )


HPO:

32
charcot-marie-tooth disease, demyelinating, type 1c:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601098
Disease Ontology 12 DOID:0110151
ICD10 33 G60.0
Orphanet 59 ORPHA101083
ICD10 via Orphanet 34 G60.0
MESH via Orphanet 45 C537984
UMLS via Orphanet 74 C0270913
UMLS 73 C0270913

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 1C: A dominant 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1c, also known as charcot-marie-tooth disease, type 1c, is related to sensory peripheral neuropathy and charcot-marie-tooth disease and deafness. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1c is LITAF (Lipopolysaccharide Induced TNF Factor), and among its related pathways/superpathways is Neural Crest Differentiation. Related phenotypes are hyporeflexia and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the LITAF gene on chromosome 16p13.

OMIM : 57 For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). (601098)

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 29.6 LITAF MPZ PMP22
2 charcot-marie-tooth disease and deafness 29.3 KIF1B LITAF MPZ PMP22
3 tooth disease 27.7 KIF1B LITAF MPZ NEFL PMP22
4 charcot-marie-tooth disease 27.7 KIF1B LITAF MPZ NEFL PMP22
5 neuropathy 10.4
6 congenital hypomyelination neuropathy 10.0 MPZ PMP22
7 charcot-marie-tooth neuropathy type 1 10.0 MPZ PMP22
8 foot drop 10.0 MPZ PMP22
9 roussy-levy hereditary areflexic dystasia 9.9 MPZ PMP22
10 chronic inflammatory demyelinating polyradiculoneuropathy 9.9 MPZ PMP22
11 hereditary neuropathies 9.8 MPZ PMP22
12 polyradiculoneuropathy 9.8 MPZ PMP22
13 pelizaeus-merzbacher disease 9.8 MPZ PMP22
14 guillain-barre syndrome 9.7 MPZ PMP22
15 amyotrophic neuralgia 9.7 KIF1B PMP22
16 brachial plexus neuropathy 9.7 KIF1B PMP22
17 neuritis 9.7 MPZ PMP22
18 charcot-marie-tooth disease, axonal, type 2i 9.6 KIF1B MPZ
19 charcot-marie-tooth disease, axonal, type 2j 9.6 KIF1B MPZ
20 diabetic neuropathy 9.6 MPZ PMP22
21 charcot-marie-tooth disease, axonal, type 2f 9.6 KIF1B MPZ
22 hereditary neuropathy with liability to pressure palsy 9.5 LITAF MPZ PMP22
23 charcot-marie-tooth disease, axonal, type 2l 9.5 KIF1B MPZ
24 hereditary motor and sensory neuropathy, type iic 9.5 KIF1B MPZ
25 neuromuscular disease 9.5 MPZ PMP22
26 charcot-marie-tooth disease, demyelinating, type 1f 9.4 MPZ NEFL PMP22
27 peripheral nervous system disease 9.4 MPZ NEFL PMP22
28 polyneuropathy 9.2 MPZ PMP22
29 charcot-marie-tooth disease, demyelinating, type 1b 9.1 KIF1B MPZ PMP22
30 charcot-marie-tooth disease, axonal, type 2b 9.1 KIF1B MPZ PMP22
31 motor peripheral neuropathy 9.0 KIF1B MPZ PMP22
32 charcot-marie-tooth disease, demyelinating, type 1a 9.0 KIF1B MPZ PMP22
33 charcot-marie-tooth disease, demyelinating, type 1d 9.0 KIF1B MPZ PMP22
34 neuropathy, hereditary, with liability to pressure palsies 8.6 KIF1B LITAF MPZ PMP22
35 hypertrophic neuropathy of dejerine-sottas 8.5 KIF1B LITAF MPZ PMP22
36 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 8.5 KIF1B LITAF MPZ PMP22
37 charcot-marie-tooth disease, axonal, type 2e 8.4 KIF1B MPZ NEFL PMP22

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
distal sensory impairment
hyporeflexia
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)
more

Clinical features from OMIM:

601098

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 pes cavus 32 HP:0001761
3 distal muscle weakness 32 HP:0002460
4 distal sensory impairment 32 HP:0002936
5 hypertrophic nerve changes 32 HP:0003382
6 onion bulb formation 32 HP:0003383
7 decreased motor nerve conduction velocity 32 HP:0003431
8 segmental peripheral demyelination/remyelination 32 HP:0003481
9 distal amyotrophy 32 HP:0003693

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 KIF1B LITAF MPZ NEFL PMP22

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 1c 29 LITAF

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

# Title Authors Year
1
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. ( 28164329 )
2017
2
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C. ( 27927196 )
2016
3
Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. ( 23359569 )
2013
4
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. ( 11713717 )
2002

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

75
# Symbol AA change Variation ID SNP ID
1 LITAF p.Thr49Met VAR_024015 rs141862602
2 LITAF p.Gly112Ser VAR_024017 rs104894519
3 LITAF p.Thr115Asn VAR_024018 rs104894520
4 LITAF p.Trp116Gly VAR_024019 rs104894521
5 LITAF p.Leu122Val VAR_024020 rs104894522

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

6
(show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 LITAF NM_004862.3(LITAF): c.334G> A (p.Gly112Ser) single nucleotide variant Pathogenic rs104894519 GRCh37 Chromosome 16, 11647432: 11647432
2 LITAF NM_004862.3(LITAF): c.334G> A (p.Gly112Ser) single nucleotide variant Pathogenic rs104894519 GRCh38 Chromosome 16, 11553576: 11553576
3 LITAF NM_004862.3(LITAF): c.344C> A (p.Thr115Asn) single nucleotide variant Pathogenic rs104894520 GRCh37 Chromosome 16, 11647422: 11647422
4 LITAF NM_004862.3(LITAF): c.344C> A (p.Thr115Asn) single nucleotide variant Pathogenic rs104894520 GRCh38 Chromosome 16, 11553566: 11553566
5 LITAF NM_004862.3(LITAF): c.346T> G (p.Trp116Gly) single nucleotide variant Pathogenic rs104894521 GRCh37 Chromosome 16, 11647420: 11647420
6 LITAF NM_004862.3(LITAF): c.346T> G (p.Trp116Gly) single nucleotide variant Pathogenic rs104894521 GRCh38 Chromosome 16, 11553564: 11553564
7 LITAF NM_001136473.1(LITAF): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs104894522 GRCh37 Chromosome 16, 11647402: 11647402
8 LITAF NM_001136473.1(LITAF): c.364C> G (p.Leu122Val) single nucleotide variant Pathogenic rs104894522 GRCh38 Chromosome 16, 11553546: 11553546
9 LITAF NM_001136472.1(LITAF): c.430G> A (p.Val144Met) single nucleotide variant Pathogenic rs121908615 GRCh37 Chromosome 16, 11643549: 11643549
10 LITAF NM_001136472.1(LITAF): c.430G> A (p.Val144Met) single nucleotide variant Pathogenic rs121908615 GRCh38 Chromosome 16, 11549693: 11549693
11 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh37 Chromosome 8, 24813966: 24813966
12 NEFL NM_006158.4(NEFL): c.64C> T (p.Pro22Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28928910 GRCh38 Chromosome 8, 24956452: 24956452
13 LITAF NM_004862.3(LITAF): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs281865134 GRCh37 Chromosome 16, 11647434: 11647434
14 LITAF NM_004862.3(LITAF): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs281865134 GRCh38 Chromosome 16, 11553578: 11553578
15 LITAF NM_004862.3(LITAF): c.403C> A (p.Pro135Thr) single nucleotide variant Pathogenic rs281865135 GRCh37 Chromosome 16, 11643576: 11643576
16 LITAF NM_004862.3(LITAF): c.403C> A (p.Pro135Thr) single nucleotide variant Pathogenic rs281865135 GRCh38 Chromosome 16, 11549720: 11549720
17 LITAF NM_004862.3(LITAF): c.403C> T (p.Pro135Ser) single nucleotide variant Pathogenic rs281865135 GRCh37 Chromosome 16, 11643576: 11643576
18 LITAF NM_004862.3(LITAF): c.403C> T (p.Pro135Ser) single nucleotide variant Pathogenic rs281865135 GRCh38 Chromosome 16, 11549720: 11549720
19 LITAF NM_004862.3(LITAF): c.404C> G (p.Pro135Arg) single nucleotide variant Pathogenic rs797044848 GRCh38 Chromosome 16, 11549719: 11549719
20 LITAF NM_004862.3(LITAF): c.404C> G (p.Pro135Arg) single nucleotide variant Pathogenic rs797044848 GRCh37 Chromosome 16, 11643575: 11643575
21 LITAF NM_004862.3(LITAF): c.385G> A (p.Ala129Thr) single nucleotide variant Pathogenic rs797044847 GRCh38 Chromosome 16, 11549738: 11549738
22 LITAF NM_004862.3(LITAF): c.385G> A (p.Ala129Thr) single nucleotide variant Pathogenic rs797044847 GRCh37 Chromosome 16, 11643594: 11643594
23 LITAF NM_004862.3(LITAF): c.240C> T (p.Tyr80=) single nucleotide variant Likely benign rs149184234 GRCh37 Chromosome 16, 11647526: 11647526
24 LITAF NM_004862.3(LITAF): c.240C> T (p.Tyr80=) single nucleotide variant Likely benign rs149184234 GRCh38 Chromosome 16, 11553670: 11553670
25 LITAF NM_004862.3(LITAF): c.146C> T (p.Thr49Met) single nucleotide variant Likely benign rs141862602 GRCh37 Chromosome 16, 11650441: 11650441
26 LITAF NM_004862.3(LITAF): c.146C> T (p.Thr49Met) single nucleotide variant Likely benign rs141862602 GRCh38 Chromosome 16, 11556585: 11556585
27 LITAF NM_004862.3(LITAF): c.6G> A (p.Ser2=) single nucleotide variant Benign rs147187481 GRCh37 Chromosome 16, 11650581: 11650581
28 LITAF NM_004862.3(LITAF): c.6G> A (p.Ser2=) single nucleotide variant Benign rs147187481 GRCh38 Chromosome 16, 11556725: 11556725
29 LITAF NM_004862.3(LITAF): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs864622744 GRCh38 Chromosome 16, 11549644: 11549644
30 LITAF NM_004862.3(LITAF): c.479G> A (p.Arg160His) single nucleotide variant Uncertain significance rs864622744 GRCh37 Chromosome 16, 11643500: 11643500
31 LITAF NM_004862.3(LITAF): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs34448402 GRCh37 Chromosome 16, 11647433: 11647433
32 LITAF NM_004862.3(LITAF): c.333C> T (p.Ala111=) single nucleotide variant Benign/Likely benign rs34448402 GRCh38 Chromosome 16, 11553577: 11553577
33 LITAF NM_004862.3(LITAF): c.330C> T (p.Asn110=) single nucleotide variant Likely benign rs139116481 GRCh37 Chromosome 16, 11647436: 11647436
34 LITAF NM_004862.3(LITAF): c.330C> T (p.Asn110=) single nucleotide variant Likely benign rs139116481 GRCh38 Chromosome 16, 11553580: 11553580
35 LITAF NM_004862.3(LITAF): c.234G> A (p.Thr78=) single nucleotide variant Benign/Likely benign rs9282774 GRCh37 Chromosome 16, 11647532: 11647532
36 LITAF NM_004862.3(LITAF): c.234G> A (p.Thr78=) single nucleotide variant Benign/Likely benign rs9282774 GRCh38 Chromosome 16, 11553676: 11553676
37 LITAF NM_004862.3(LITAF): c.115C> T (p.Pro39Ser) single nucleotide variant Uncertain significance rs375202318 GRCh38 Chromosome 16, 11556616: 11556616
38 LITAF NM_004862.3(LITAF): c.115C> T (p.Pro39Ser) single nucleotide variant Uncertain significance rs375202318 GRCh37 Chromosome 16, 11650472: 11650472
39 LITAF NM_004862.3(LITAF): c.241G> A (p.Val81Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201653834 GRCh38 Chromosome 16, 11553669: 11553669
40 LITAF NM_004862.3(LITAF): c.241G> A (p.Val81Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201653834 GRCh37 Chromosome 16, 11647525: 11647525
41 LITAF NM_004862.3(LITAF): c.274A> G (p.Ile92Val) single nucleotide variant Benign rs4280262 GRCh38 Chromosome 16, 11553636: 11553636
42 LITAF NM_004862.3(LITAF): c.274A> G (p.Ile92Val) single nucleotide variant Benign rs4280262 GRCh37 Chromosome 16, 11647492: 11647492
43 LITAF NM_004862.3(LITAF): c.44C> T (p.Ser15Leu) single nucleotide variant Uncertain significance rs138041990 GRCh37 Chromosome 16, 11650543: 11650543
44 LITAF NM_004862.3(LITAF): c.44C> T (p.Ser15Leu) single nucleotide variant Uncertain significance rs138041990 GRCh38 Chromosome 16, 11556687: 11556687
45 LITAF NM_004862.3(LITAF): c.457G> A (p.Ala153Thr) single nucleotide variant Uncertain significance rs543022814 GRCh38 Chromosome 16, 11549666: 11549666
46 LITAF NM_004862.3(LITAF): c.457G> A (p.Ala153Thr) single nucleotide variant Uncertain significance rs543022814 GRCh37 Chromosome 16, 11643522: 11643522
47 LITAF NM_004862.3(LITAF): c.302A> G (p.Lys101Arg) single nucleotide variant Uncertain significance rs201283647 GRCh37 Chromosome 16, 11647464: 11647464
48 LITAF NM_004862.3(LITAF): c.302A> G (p.Lys101Arg) single nucleotide variant Uncertain significance rs201283647 GRCh38 Chromosome 16, 11553608: 11553608
49 LITAF NM_004862.3(LITAF): c.151C> T (p.Pro51Ser) single nucleotide variant Uncertain significance rs752978718 GRCh37 Chromosome 16, 11650436: 11650436
50 LITAF NM_004862.3(LITAF): c.151C> T (p.Pro51Ser) single nucleotide variant Uncertain significance rs752978718 GRCh38 Chromosome 16, 11556580: 11556580

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c.

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.63 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.96 MPZ NEFL
2 axon cytoplasm GO:1904115 8.62 KIF1B NEFL

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.96 MPZ PMP22
2 anterograde axonal transport GO:0008089 8.62 KIF1B NEFL

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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