CMT1C
MCID: CHR647
MIFTS: 46

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c (CMT1C)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 20
Charcot-Marie-Tooth Disease, Type 1c 57 29 13 6 70
Charcot-Marie-Tooth Disease Type 1c 12 73 20 58 15
Cmt1c 57 12 58 72
Hmsn Ic 57 12 72
Hmsn1c 57 12 72
Charcot-Marie-Tooth Neuropathy Type 1c 12 72
Neuropathy, Hereditary Motor and Sensory, Type Ic; Hmsn1c 57
Neuropathy, Hereditary Motor and Sensory, Type Ic 57
Charcot-Marie-Tooth Disease Demyelinating Type 1c 72
Neuropathy Hereditary Motor and Sensory Type 1c 12
Hereditary Motor and Sensory Neuropathy Ic 72
Charcot-Marie-Tooth Neuropathy, Type 1c 57
Charcot-Marie-Tooth Disease, Type Ic 39
Charcot Marie Tooth Disease Type 1c 20
Cmt, Slow Nerve Conduction Type C 57
Cmt Slow Nerve Conduction Type C 12
Charcot-Marie-Tooth Disease 1c 72
Cmt 1c 20

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 1c
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in childhood


HPO:

31
charcot-marie-tooth disease, demyelinating, type 1c:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110151
OMIM® 57 601098
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
MESH via Orphanet 45 C537984
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C0270913
Orphanet 58 ORPHA101083
UMLS 70 C0270913

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

UniProtKB/Swiss-Prot : 72 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 foot drop and charcot-marie-tooth disease, demyelinating, type 1d. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1c is LITAF (Lipopolysaccharide Induced TNF Factor), and among its related pathways/superpathways are Endocytosis and Neural Crest Differentiation. Affiliated tissues include brain, and related phenotypes are pes cavus and hyporeflexia

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) (Updated 20-May-2021)

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

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

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 foot drop 31.0 PMP22 MPZ
2 charcot-marie-tooth disease, demyelinating, type 1d 30.0 PRX PMP22 MTMR2 MPZ LITAF GJB1
3 sensory peripheral neuropathy 29.9 PRX PMP22 MTMR2 MPZ LITAF GJB1
4 charcot-marie-tooth disease and deafness 29.7 SPTLC2 SH3TC2 SBF2 RAB7A PRX PMP22
5 charcot-marie-tooth disease, demyelinating, type 1a 29.5 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
6 neuropathy 29.4 SPTLC2 SH3TC2 SBF2 RAB7A PRX PMP22
7 peripheral nervous system disease 29.3 SH3TC2 SBF2 RAB7A PRX PMP22 NEFL
8 tooth disease 29.2 TSG101 SH3TC2 SBF2 RAB7A PRX PMP22
9 charcot-marie-tooth disease 28.5 TSG101 STAM SPTLC2 SH3TC2 SBF2 RAB7A
10 genetic motor neuron disease 10.4 SH3TC2 MPZ
11 sciatic neuropathy 10.4 SH3TC2 PMP22
12 neuronopathy, distal hereditary motor, type iic 10.4 SPTLC2 LITAF
13 mononeuritis of lower limb 10.4 SH3TC2 PMP22
14 lesion of sciatic nerve 10.3 SH3TC2 PMP22
15 charcot-marie-tooth disease, dominant intermediate d 10.3 SH3TC2 MPZ
16 neuropathy, hereditary sensory and autonomic, type ic 10.3 SPTLC2 SH3TC2 LITAF
17 slowed nerve conduction velocity, autosomal dominant 10.3 NEFL MPZ GJB1
18 early-onset glaucoma 10.3 SBF2 MTMR2
19 charcot-marie-tooth disease, type 4k 10.3 SH3TC2 LITAF
20 mononeuropathy 10.3 SH3TC2 PMP22 MPZ
21 brachial plexus neuropathy 10.3 PMP22 MPZ GJB1
22 nerve compression syndrome 10.3 SH3TC2 PMP22 MPZ
23 autoimmune peripheral neuropathy 10.3 MPZ GJB1
24 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.3 SPTLC2 RAB7A
25 neuropathy, hereditary sensory and autonomic, type ia 10.3 SPTLC2 SH3TC2
26 motor peripheral neuropathy 10.3 SH3TC2 PMP22 LITAF
27 charcot-marie-tooth disease, axonal, type 2w 10.3 MPZ GJB1 GDAP1
28 carpal tunnel syndrome 10.3 SH3TC2 PMP22 MPZ
29 cortical dysplasia, complex, with other brain malformations 6 10.3 PMP22 LITAF GDAP1
30 charcot-marie-tooth disease, dominant intermediate c 10.3 MPZ GJB1 GDAP1
31 pupil disease 10.3 MPZ GDAP1 EGR2
32 argyll robertson pupil 10.3 MPZ GDAP1 EGR2
33 abnormal pupillary function 10.3 MPZ GDAP1 EGR2
34 charcot-marie-tooth disease, axonal, type 2h 10.3 LRSAM1 GDAP1
35 corneal dystrophy, fleck 10.3 SBF2 MTMR2 FIG4
36 neuropathy, hereditary motor and sensory, russe type 10.3 SH3TC2 GDAP1 EGR2
37 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ LRSAM1 GDAP1
38 axonal neuropathy 10.2 PMP22 NEFL GDAP1
39 charcot-marie-tooth disease, x-linked recessive, 2 10.2 MPZ LITAF GJB1 EGR2
40 amyotrophic neuralgia 10.2 PMP22 MPZ
41 neuritis 10.2 PMP22 NEFL MPZ GJB1
42 charcot-marie-tooth disease, axonal, type 2t 10.2 SH3TC2 LRSAM1 GDAP1
43 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.2 PMP22 MPZ GJB1 EGR2
44 centronuclear myopathy 10.2 SBF2 MTMR2 FIG4
45 roussy-levy hereditary areflexic dystasia 10.2 PMP22 MPZ
46 yunis-varon syndrome 10.2 SBF2 MTMR2 GDAP1 FIG4
47 charcot-marie-tooth disease, axonal, type 2r 10.2 LRSAM1 GDAP1
48 charcot-marie-tooth disease, axonal, type 2b2 10.2 NEFL MPZ LRSAM1 GDAP1
49 hereditary sensory and autonomic neuropathy type 1 10.2 SPTLC2 SH3TC2 RAB7A LITAF
50 neuropathy, hereditary sensory, type id 10.2 SPTLC2 RAB7A

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 HP:0001761
2 hyporeflexia 31 HP:0001265
3 decreased motor nerve conduction velocity 31 HP:0003431
4 distal muscle weakness 31 HP:0002460
5 distal sensory impairment 31 HP:0002936
6 distal amyotrophy 31 HP:0003693
7 segmental peripheral demyelination/remyelination 31 HP:0003481
8 onion bulb formation 31 HP:0003383
9 hypertrophic nerve changes 31 HP:0003382

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM®:

601098 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.72 GJB1 STAM
2 Decreased viability GR00055-A-2 9.72 GJB1 STAM
3 Decreased viability GR00249-S 9.72 GJB1 MPZ SH3TC2 STAM
4 Decreased viability GR00381-A-1 9.72 FGD4 FIG4 LRSAM1 MPZ PRX SH3TC2
5 Decreased viability GR00381-A-3 9.72 MPZ
6 Decreased viability GR00386-A-1 9.72 EGR2 LRSAM1 MPZ NEFL SPTLC2
7 Decreased viability GR00402-S-2 9.72 FGD4 GJB1 LRSAM1 MPZ MTMR2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 CDIP1 EGR2 FGD4 FIG4 GDAP1 GJB1
2 nervous system MP:0003631 9.5 EGR2 FGD4 FIG4 GDAP1 GJB1 LITAF

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1c:

40
Brain

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

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

(show all 41)
# Title Authors PMID Year
1
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. 6 61 57
12525712 2003
2
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. 57 6
19541485 2009
3
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. 6 57
1407588 1992
4
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). 57 6
2239969 1990
5
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. 6 61
28211240 2017
6
LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria. 6 61
25058650 2014
7
Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. 61 6
23576546 2013
8
Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. 57 61
23359569 2013
9
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. 57 61
21896645 2011
10
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. 6 61
15776429 2005
11
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. 61 6
15122712 2004
12
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. 61 57
11713717 2002
13
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 6
26681808 2016
14
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 6
20920666 2010
15
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. 6
15786462 2005
16
The human tyrosine kinase gene (FER) detects an RFLP with BgII. 6
1678513 1991
17
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease. 61
33059769 2020
18
A Rare Case of Charcot-Marie-Tooth Disease Type 1C With an Unusual Presentation. 61
32665875 2020
19
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. 61
28164329 2017
20
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C. 61
27927196 2016
21
Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein. 61
25963657 2015
22
Nerve ultrasound in patients with CMT1C: description of 3 cases. 61
25286909 2015
23
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein. 61
25245565 2015
24
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 61
24880540 2014
25
LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease. 61
22729949 2012
26
Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome. 61
23319192 2012
27
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. 61
16787513 2006
28
SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. 61
16118794 2005
29
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004
30
Molecular basis of hereditary neuropathies. 61
11345007 2001
31
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. 61
10520946 1999
32
Inherited neuropathies: from gene to disease. 61
10219749 1999
33
Inherited peripheral neuropathy. 61
10716658 1999
34
Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301384 1998
35
Charcot-Marie-Tooth disease and related inherited neuropathies. 61
8862346 1996
36
[Molecular basis of Charcot-Marie-Tooth neuropathy]. 61
8810804 1996
37
[Mutation of the myelin Po gene in hereditary motor and sensory neuropathy]. 61
8752425 1995
38
Inherited neuropathies. 61
7804455 1994
39
Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. 61
7952853 1994
40
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. 61
7849745 1994
41
Charcot-Marie-Tooth syndrome. 61
8215977 1993

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

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

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTLC2 NM_004863.3(SPTLC2):c.1075G>A (p.Val359Met) SNV Pathogenic 4798 rs267607090 GRCh37: 14:78021744-78021744
GRCh38: 14:77555401-77555401
2 LITAF NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) SNV Pathogenic 6059 rs104894521 GRCh37: 16:11647420-11647420
GRCh38: 16:11553564-11553564
3 LITAF NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) SNV Pathogenic 6060 rs104894522 GRCh37: 16:11647402-11647402
GRCh38: 16:11553546-11553546
4 SPTLC2 NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) SNV Pathogenic 4797 rs267607089 GRCh37: 14:78021674-78021674
GRCh38: 14:77555331-77555331
5 LITAF NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) SNV Pathogenic 6057 rs104894519 GRCh37: 16:11647432-11647432
GRCh38: 16:11553576-11553576
6 LITAF NM_001136473.1(LITAF):c.*69G>A SNV Pathogenic 6061 rs121908615 GRCh37: 16:11643549-11643549
GRCh38: 16:11549693-11549693
7 LITAF NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) SNV Pathogenic 41229 rs281865134 GRCh37: 16:11647434-11647434
GRCh38: 16:11553578-11553578
8 LITAF NM_001136473.1(LITAF):c.*42C>A SNV Pathogenic 41230 rs281865135 GRCh37: 16:11643576-11643576
GRCh38: 16:11549720-11549720
9 LITAF NM_001136473.1(LITAF):c.*42C>T SNV Pathogenic 41231 rs281865135 GRCh37: 16:11643576-11643576
GRCh38: 16:11549720-11549720
10 LITAF NM_001136473.1(LITAF):c.*24G>A SNV Pathogenic 208245 rs797044847 GRCh37: 16:11643594-11643594
GRCh38: 16:11549738-11549738
11 LITAF NM_001136473.1(LITAF):c.*43C>G SNV Pathogenic 208246 rs797044848 GRCh37: 16:11643575-11643575
GRCh38: 16:11549719-11549719
12 NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) SNV Pathogenic 14029 rs28928910 GRCh37: 8:24813966-24813966
GRCh38: 8:24956452-24956452
13 LITAF NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) SNV Pathogenic 639258 rs1324125372 GRCh37: 16:11647435-11647435
GRCh38: 16:11553579-11553579
14 LITAF NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) SNV Likely pathogenic 6058 rs104894520 GRCh37: 16:11647422-11647422
GRCh38: 16:11553566-11553566
15 LITAF NM_001136473.1(LITAF):c.147G>A (p.Thr49=) SNV Conflicting interpretations of pathogenicity 317786 rs145659732 GRCh37: 16:11650440-11650440
GRCh38: 16:11556584-11556584
16 LITAF NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) SNV Conflicting interpretations of pathogenicity 215840 rs141862602 GRCh37: 16:11650441-11650441
GRCh38: 16:11556585-11556585
17 LITAF NM_001136473.1(LITAF):c.*118G>A SNV Uncertain significance 221090 rs864622744 GRCh37: 16:11643500-11643500
GRCh38: 16:11549644-11549644
18 LITAF NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu) SNV Uncertain significance 851541 GRCh37: 16:11650570-11650570
GRCh38: 16:11556714-11556714
19 LITAF NM_001136473.1(LITAF):c.*117C>T SNV Uncertain significance 245638 rs748017885 GRCh37: 16:11643501-11643501
GRCh38: 16:11549645-11549645
20 LITAF NM_001136473.1(LITAF):c.*48T>C SNV Uncertain significance 954546 GRCh37: 16:11643570-11643570
GRCh38: 16:11549714-11549714
21 LITAF NM_001136473.1(LITAF):c.269G>A (p.Arg90His) SNV Uncertain significance 917116 GRCh37: 16:11647497-11647497
GRCh38: 16:11553641-11553641
22 LITAF NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser) SNV Uncertain significance 1052564 GRCh37: 16:11650541-11650541
GRCh38: 16:11556685-11556685
23 LITAF NM_001136472.2(LITAF):c.*185T>C SNV Uncertain significance 1063503 GRCh37: 16:11643308-11643308
GRCh38: 16:11549452-11549452
24 LITAF NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) SNV Uncertain significance 532704 rs767809270 GRCh37: 16:11650502-11650502
GRCh38: 16:11556646-11556646
25 LITAF NM_001136473.1(LITAF):c.*17-3C>T SNV Uncertain significance 571959 rs774213197 GRCh37: 16:11643604-11643604
GRCh38: 16:11549748-11549748
26 LITAF NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) SNV Uncertain significance 642426 rs539627278 GRCh37: 16:11647527-11647527
GRCh38: 16:11553671-11553671
27 LITAF NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) SNV Uncertain significance 451222 rs746577483 GRCh37: 16:11650378-11650378
GRCh38: 16:11556522-11556522
28 LITAF NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg) SNV Uncertain significance 944854 GRCh37: 16:11650430-11650430
GRCh38: 16:11556574-11556574
29 LITAF NM_001136473.1(LITAF):c.226G>A (p.Val76Met) SNV Uncertain significance 464048 rs371334679 GRCh37: 16:11647540-11647540
GRCh38: 16:11553684-11553684
30 LITAF NM_001136473.1(LITAF):c.*68C>A SNV Uncertain significance 546770 rs374918259 GRCh37: 16:11643550-11643550
GRCh38: 16:11549694-11549694
31 LITAF NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) SNV Uncertain significance 240077 rs375202318 GRCh37: 16:11650472-11650472
GRCh38: 16:11556616-11556616
32 LITAF NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro) SNV Uncertain significance 665395 rs1597329148 GRCh37: 16:11647395-11647395
GRCh38: 16:11553539-11553539
33 LITAF NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser) SNV Uncertain significance 834975 GRCh37: 16:11650415-11650415
GRCh38: 16:11556559-11556559
34 LITAF NM_001136473.1(LITAF):c.220+4C>T SNV Uncertain significance 935915 GRCh37: 16:11650363-11650363
GRCh38: 16:11556507-11556507
35 LITAF NM_001136473.1(LITAF):c.26C>T (p.Ala9Val) SNV Uncertain significance 945669 GRCh37: 16:11650561-11650561
GRCh38: 16:11556705-11556705
36 LITAF NM_001136473.1(LITAF):c.*25C>T SNV Uncertain significance 317780 rs201512884 GRCh37: 16:11643593-11643593
GRCh38: 16:11549737-11549737
37 LITAF NC_000016.9:g.(?_11650347)_(11650606_?)del Deletion Uncertain significance 1024595 GRCh37: 16:11650347-11650606
GRCh38:
38 LITAF NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg) SNV Uncertain significance 1025234 GRCh37: 16:11647483-11647483
GRCh38: 16:11553627-11553627
39 LITAF NM_001136473.1(LITAF):c.135G>A (p.Thr45=) SNV Uncertain significance 574204 rs758166691 GRCh37: 16:11650452-11650452
GRCh38: 16:11556596-11556596
40 LITAF NM_001136473.1(LITAF):c.*57G>A SNV Uncertain significance 576085 rs754821950 GRCh37: 16:11643561-11643561
GRCh38: 16:11549705-11549705
41 LITAF NM_001136473.1(LITAF):c.*69G>T SNV Uncertain significance 852504 GRCh37: 16:11643549-11643549
GRCh38: 16:11549693-11549693
42 LITAF NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr) SNV Uncertain significance 944155 GRCh37: 16:11650532-11650532
GRCh38: 16:11556676-11556676
43 LITAF NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp) SNV Uncertain significance 968029 GRCh37: 16:11650463-11650463
GRCh38: 16:11556607-11556607
44 LITAF NM_001136472.2(LITAF):c.168del (p.Met56fs) Deletion Uncertain significance 1034788 GRCh37: 16:11650419-11650419
GRCh38: 16:11556563-11556563
45 LITAF NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys) SNV Uncertain significance 1038405 GRCh37: 16:11643506-11643506
GRCh38: 16:11549650-11549650
46 LITAF NM_001136472.2(LITAF):c.197C>T (p.Ala66Val) SNV Uncertain significance 1043132 GRCh37: 16:11650390-11650390
GRCh38: 16:11556534-11556534
47 LITAF NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) SNV Uncertain significance 404114 rs201283647 GRCh37: 16:11647464-11647464
GRCh38: 16:11553608-11553608
48 LITAF NM_001136473.1(LITAF):c.*51G>A SNV Uncertain significance 640744 rs780788687 GRCh37: 16:11643567-11643567
GRCh38: 16:11549711-11549711
49 LITAF NM_001136473.1(LITAF):c.310G>T (p.Val104Leu) SNV Uncertain significance 970046 GRCh37: 16:11647456-11647456
GRCh38: 16:11553600-11553600
50 LITAF NM_001136473.1(LITAF):c.*116G>A SNV Uncertain significance 637892 rs371453151 GRCh37: 16:11643502-11643502
GRCh38: 16:11549646-11549646

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

72
# 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

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 11.33 TSG101 STAM RAB7A NEDD4
2 11.14 PMP22 MPZ GJB1

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 membrane GO:0016020 10.31 TSG101 STAM SPTLC2 SBF2 RAB7A PRX
2 early endosome membrane GO:0031901 9.65 TSG101 STAM MTMR2 LITAF FIG4
3 endosome GO:0005768 9.56 TSG101 STAM SBF2 RAB7A MTMR2 LITAF
4 late endosome membrane GO:0031902 9.55 TSG101 RAB7A LITAF FIG4 CDIP1
5 cytoplasmic side of lysosomal membrane GO:0098574 9.37 LITAF CDIP1
6 cytoplasmic side of late endosome membrane GO:0098560 9.32 LITAF CDIP1
7 endosome membrane GO:0010008 9.17 TSG101 SBF2 RAB7A MTMR2 LITAF FIG4

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 9.5 SBF2 MPZ EGR2
2 protein targeting to lysosome GO:0006622 9.48 RAB7A NEDD4
3 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway GO:0043162 9.46 TSG101 NEDD4
4 negative regulation of endocytosis GO:0045806 9.43 MTMR2 LRSAM1
5 negative regulation of myelination GO:0031642 9.4 MTMR2 FIG4
6 peripheral nervous system myelin maintenance GO:0032287 9.37 SH3TC2 PRX
7 positive regulation of exosomal secretion GO:1903543 9.33 TSG101 STAM RAB7A
8 regulation of extracellular exosome assembly GO:1903551 9.26 TSG101 STAM
9 viral budding GO:0046755 9.13 TSG101 NEDD4 LRSAM1
10 myelin assembly GO:0032288 8.8 PMP22 MTMR2 FIG4

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.62 MTMR2 FIG4

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

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
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35 IUPHAR
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46 MGI
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51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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