CMT1C
MCID: CHR647
MIFTS: 45

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 56 52
Charcot-Marie-Tooth Disease, Type 1c 56 29 13 6 71
Charcot-Marie-Tooth Disease Type 1c 12 74 52 58 15
Cmt1c 56 12 58 73
Hmsn Ic 56 12 73
Hmsn1c 56 12 73
Charcot-Marie-Tooth Neuropathy Type 1c 12 73
Neuropathy, Hereditary Motor and Sensory, Type Ic; Hmsn1c 56
Neuropathy, Hereditary Motor and Sensory, Type Ic 56
Charcot-Marie-Tooth Disease Demyelinating Type 1c 73
Neuropathy Hereditary Motor and Sensory Type 1c 12
Hereditary Motor and Sensory Neuropathy Ic 73
Charcot-Marie-Tooth Neuropathy, Type 1c 56
Charcot-Marie-Tooth Disease, Type Ic 39
Charcot Marie Tooth Disease Type 1c 52
Cmt, Slow Nerve Conduction Type C 56
Cmt Slow Nerve Conduction Type C 12
Charcot-Marie-Tooth Disease 1c 73
Cmt 1c 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 601098
OMIM Phenotypic Series 56 PS118220
ICD10 32 G60.0
MESH via Orphanet 44 C537984
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C0270913
Orphanet 58 ORPHA101083
UMLS 71 C0270913

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

UniProtKB/Swiss-Prot : 73 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 charcot-marie-tooth disease, demyelinating, type 1d and charcot-marie-tooth disease, demyelinating, type 1a. 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 Vesicle-mediated transport and Endocytosis. Related phenotypes are pes cavus and decreased motor nerve conduction velocity

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

Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... 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 81)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1d 29.3 PRX PMP22 MTMR2 MPZ LITAF KIF1B
2 charcot-marie-tooth disease, demyelinating, type 1a 28.6 SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
3 neuropathy 28.5 SH3TC2 SBF2 RAB7A PRX PMP22 NEFL
4 sensory peripheral neuropathy 28.1 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
5 peripheral nervous system disease 27.7 SH3TC2 SBF2 RAB7A PRX PMP22 NEFL
6 tooth disease 27.5 SH3TC2 SBF2 RAB7A PRX PMP22 NEFL
7 charcot-marie-tooth disease and deafness 27.3 TSG101 SH3TC2 SBF2 RAB7B RAB7A PRX
8 charcot-marie-tooth disease 25.5 TSG101 STAM SH3TC2 SBF2 RAB7B RAB7A
9 foot drop 10.5 PMP22 MPZ
10 early-onset glaucoma 10.4 SBF2 MTMR2
11 chronic polyneuropathy 10.4 PMP22 GJB1
12 charcot-marie-tooth disease, dominant intermediate d 10.4 MPZ KIF1B
13 sciatic neuropathy 10.4 SH3TC2 PMP22
14 mononeuritis of lower limb 10.4 SH3TC2 PMP22
15 argyll robertson pupil 10.4 MPZ GDAP1
16 charcot-marie-tooth disease x-linked recessive 4 10.4 MPZ GJB1
17 pupil disease 10.4 MPZ GDAP1
18 lesion of sciatic nerve 10.4 SH3TC2 PMP22
19 neuropathy, hereditary sensory and autonomic, type ic 10.4 SH3TC2 LITAF
20 autoimmune peripheral neuropathy 10.4 MPZ GJB1
21 charcot-marie-tooth disease, axonal, type 2cc 10.4 NEFL MPZ GJB1
22 charcot-marie-tooth disease, type 4k 10.3 SH3TC2 LITAF
23 roussy-levy hereditary areflexic dystasia 10.3 PMP22 MPZ
24 mononeuropathy 10.3 SH3TC2 PMP22 MPZ
25 nerve compression syndrome 10.3 SH3TC2 PMP22 MPZ
26 amyotrophic neuralgia 10.3 PMP22 MPZ
27 carpal tunnel syndrome 10.3 SH3TC2 PMP22 MPZ
28 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.3 MPZ GJB1 EGR2
29 autoimmune neuropathy 10.3 PMP22 MPZ
30 charcot-marie-tooth disease, axonal, type 2q 10.3 MPZ GJB1 EGR2
31 charcot-marie-tooth disease, axonal, type 2a1 10.3 MPZ KIF1B GDAP1
32 charcot-marie-tooth disease, axonal, type 2p 10.2 TSG101 LITAF GDAP1
33 abnormal pupillary function 10.2 MPZ GDAP1 EGR2
34 yunis-varon syndrome 10.2 SBF2 MTMR2 FIG4
35 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1 EGR2
36 corneal dystrophy, fleck 10.2 SBF2 MTMR2 FIG4
37 axonal neuropathy 10.2 PMP22 NEFL GDAP1
38 charcot-marie-tooth disease, x-linked recessive, 2 10.2 MPZ LITAF GJB1 EGR2
39 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.2 RAB7B RAB7A
40 charcot-marie-tooth disease, axonal, type 2n 10.1 KIF1B GDAP1
41 charcot-marie-tooth disease, axonal, type 2b2 10.1 NEFL MPZ KIF1B GDAP1
42 charcot-marie-tooth disease, dominant intermediate c 10.1 MPZ GDAP1
43 brachial plexus neuropathy 10.1 PMP22 MPZ
44 spinal muscular atrophy 10.1 SH3TC2 PMP22 NEFL LITAF
45 charcot-marie-tooth disease, type 4b3 10.1 SH3TC2 SBF2 MTMR2 GDAP1
46 charcot-marie-tooth disease, axonal, type 2d 10.0 NEFL MPZ KIF1B GJB1 GDAP1
47 hereditary sensory and autonomic neuropathy type 1 10.0 SH3TC2 RAB7A LITAF GDAP1
48 autoimmune disease of peripheral nervous system 10.0 PMP22 MPZ
49 charcot-marie-tooth disease, dominant intermediate e 10.0 SH3TC2 SBF2 MTMR2 MPZ GDAP1
50 charcot-marie-tooth disease, dominant intermediate a 9.9 PRX MPZ GJB1 GDAP1

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 decreased motor nerve conduction velocity 31 HP:0003431
3 hyporeflexia 31 HP:0001265
4 distal amyotrophy 31 HP:0003693
5 distal muscle weakness 31 HP:0002460
6 segmental peripheral demyelination/remyelination 31 HP:0003481
7 distal sensory impairment 31 HP:0002936
8 hypertrophic nerve changes 31 HP:0003382
9 onion bulb formation 31 HP:0003383

Symptoms via clinical synopsis from OMIM:

56
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

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-2 10.1 GJB1 STAM
2 Decreased viability GR00381-A-1 10.1 FGD4 FIG4 MPZ PRX SH3TC2
3 Decreased viability GR00381-A-3 10.1 MPZ
4 Decreased viability GR00402-S-2 10.1 CDIP1 EGR2 FGD4 FIG4 GDAP1 GJB1
5 no effect GR00402-S-1 9.62 CDIP1 EGR2 FGD4 FIG4 GDAP1 GJB1

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

45
# 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 KIF1B

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:

(show all 39)
# Title Authors PMID Year
1
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. 61 56 6
12525712 2003
2
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. 56 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. 56 6
1407588 1992
4
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). 56 6
2239969 1990
5
Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C. 61 56
23359569 2013
6
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. 61 56
21896645 2011
7
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. 61 6
15776429 2005
8
Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. 61 56
11713717 2002
9
Charcot-Marie-Tooth Neuropathy Type 1 61 6
20301384 1998
10
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 6
26681808 2016
11
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 6
20920666 2010
12
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. 6
15786462 2005
13
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
14
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. 61
28164329 2017
15
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. 61
28211240 2017
16
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C. 61
27927196 2016
17
Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein. 61
25963657 2015
18
Nerve ultrasound in patients with CMT1C: description of 3 cases. 61
25286909 2015
19
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein. 61
25245565 2015
20
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 61
24880540 2014
21
LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria. 61
25058650 2014
22
Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. 61
23576546 2013
23
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
24
Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome. 61
23319192 2012
25
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. 61
16787513 2006
26
SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. 61
16118794 2005
27
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. 61
15122712 2004
28
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004
29
Molecular basis of hereditary neuropathies. 61
11345007 2001
30
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. 61
10520946 1999
31
Inherited neuropathies: from gene to disease. 61
10219749 1999
32
Inherited peripheral neuropathy. 61
10716658 1999
33
Charcot-Marie-Tooth disease and related inherited neuropathies. 61
8862346 1996
34
[Molecular basis of Charcot-Marie-Tooth neuropathy]. 61
8810804 1996
35
[Mutation of the myelin Po gene in hereditary motor and sensory neuropathy]. 61
8752425 1995
36
Inherited neuropathies. 61
7804455 1994
37
Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. 61
7952853 1994
38
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. 61
7849745 1994
39
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 all 45) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LITAF NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser)SNV Pathogenic 6057 rs104894519 16:11647432-11647432 16:11553576-11553576
2 LITAF NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn)SNV Pathogenic 6058 rs104894520 16:11647422-11647422 16:11553566-11553566
3 LITAF NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly)SNV Pathogenic 6059 rs104894521 16:11647420-11647420 16:11553564-11553564
4 LITAF NM_001136473.1(LITAF):c.364C>G (p.Leu122Val)SNV Pathogenic 6060 rs104894522 16:11647402-11647402 16:11553546-11553546
5 LITAF NM_001136473.1(LITAF):c.*69G>ASNV Pathogenic 6061 rs121908615 16:11643549-11643549 16:11549693-11549693
6 NEFL NM_006158.4(NEFL):c.64C>T (p.Pro22Ser)SNV Pathogenic/Likely pathogenic 14029 rs28928910 8:24813966-24813966 8:24956452-24956452
7 LITAF NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)SNV Conflicting interpretations of pathogenicity 41229 rs281865134 16:11647434-11647434 16:11553578-11553578
8 LITAF NM_001136473.1(LITAF):c.*42C>ASNV Conflicting interpretations of pathogenicity 41230 rs281865135 16:11643576-11643576 16:11549720-11549720
9 LITAF NM_001136473.1(LITAF):c.*42C>TSNV Conflicting interpretations of pathogenicity 41231 rs281865135 16:11643576-11643576 16:11549720-11549720
10 LITAF NM_001136473.1(LITAF):c.*43C>GSNV Conflicting interpretations of pathogenicity 208246 rs797044848 16:11643575-11643575 16:11549719-11549719
11 LITAF NM_001136473.1(LITAF):c.*24G>ASNV Conflicting interpretations of pathogenicity 208245 rs797044847 16:11643594-11643594 16:11549738-11549738
12 LITAF NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg)SNV Conflicting interpretations of pathogenicity 404114 rs201283647 16:11647464-11647464 16:11553608-11553608
13 LITAF NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)SNV Conflicting interpretations of pathogenicity 639258 16:11647435-11647435 16:11553579-11553579
14 LITAF NM_001136473.1(LITAF):c.310G>A (p.Val104Met)SNV Uncertain significance 648776 16:11647456-11647456 16:11553600-11553600
15 LITAF NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)SNV Uncertain significance 641266 16:11647498-11647498 16:11553642-11553642
16 LITAF NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)SNV Uncertain significance 642426 16:11647527-11647527 16:11553671-11553671
17 LITAF NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)SNV Uncertain significance 654391 16:11647530-11647530 16:11553674-11553674
18 LITAF NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)SNV Uncertain significance 657497 16:11647543-11647543 16:11553687-11553687
19 LITAF NM_001136473.1(LITAF):c.226G>A (p.Val76Met)SNV Uncertain significance 464048 rs371334679 16:11647540-11647540 16:11553684-11553684
20 LITAF NM_001136473.1(LITAF):c.226G>T (p.Val76Leu)SNV Uncertain significance 532703 rs371334679 16:11647540-11647540 16:11553684-11553684
21 LITAF NM_001136473.1(LITAF):c.85G>A (p.Val29Ile)SNV Uncertain significance 532704 rs767809270 16:11650502-11650502 16:11556646-11556646
22 LITAF NM_001136473.1(LITAF):c.*68C>ASNV Uncertain significance 546770 rs374918259 16:11643550-11643550 16:11549694-11549694
23 LITAF NM_001136473.1(LITAF):c.*57G>ASNV Uncertain significance 576085 rs754821950 16:11643561-11643561 16:11549705-11549705
24 LITAF NM_001136473.1(LITAF):c.135G>A (p.Thr45=)SNV Uncertain significance 574204 rs758166691 16:11650452-11650452 16:11556596-11556596
25 LITAF NC_000016.9:g.(?_11643473)_(11650606_?)dupduplication Uncertain significance 584169 16:11643473-11650606 16:11549617-11556750
26 LITAF NM_001136473.1(LITAF):c.*17-3C>TSNV Uncertain significance 571959 rs774213197 16:11643604-11643604 16:11549748-11549748
27 LITAF NM_001136473.1(LITAF):c.340C>G (p.Leu114Val)SNV Uncertain significance 582639 rs1567235442 16:11647426-11647426 16:11553570-11553570
28 LITAF NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr)SNV Uncertain significance 572892 rs1267030887 16:11650562-11650562 16:11556706-11556706
29 LITAF NM_001136473.1(LITAF):c.*49G>ASNV Uncertain significance 582795 rs144232569 16:11643569-11643569 16:11549713-11549713
30 LITAF NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)SNV Uncertain significance 581607 rs11544251 16:11647494-11647494 16:11553638-11553638
31 LITAF NM_001136473.1(LITAF):c.*107C>TSNV Uncertain significance 650636 16:11643511-11643511 16:11549655-11549655
32 LITAF NM_001136473.1(LITAF):c.*63C>TSNV Uncertain significance 656748 16:11643555-11643555 16:11549699-11549699
33 LITAF NM_001136473.1(LITAF):c.*51G>ASNV Uncertain significance 640744 16:11643567-11643567 16:11549711-11549711
34 LITAF NM_001136473.1(LITAF):c.*43C>TSNV Uncertain significance 664834 16:11643575-11643575 16:11549719-11549719
35 LITAF NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)SNV Uncertain significance 665395 16:11647395-11647395 16:11553539-11553539
36 LITAF NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser)SNV Uncertain significance 404113 rs752978718 16:11650436-11650436 16:11556580-11556580
37 LITAF NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser)SNV Uncertain significance 464047 rs1555466907 16:11650382-11650382 16:11556526-11556526
38 LITAF NM_001136473.1(LITAF):c.*118G>ASNV Uncertain significance 221090 rs864622744 16:11643500-11643500 16:11549644-11549644
39 LITAF NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu)SNV Uncertain significance 317789 rs138041990 16:11650543-11650543 16:11556687-11556687
40 LITAF NM_001136473.1(LITAF):c.*96G>ASNV Uncertain significance 404112 rs543022814 16:11643522-11643522 16:11549666-11549666
41 LITAF NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser)SNV Uncertain significance 240077 rs375202318 16:11650472-11650472 16:11556616-11556616
42 LITAF NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr)SNV Uncertain significance 317788 rs368574479 16:11650499-11650499 16:11556643-11556643
43 LITAF NM_001136473.1(LITAF):c.108T>G (p.Pro36=)SNV Likely benign 464046 rs140990446 16:11650479-11650479 16:11556623-11556623
44 LITAF NM_001136473.1(LITAF):c.51A>G (p.Pro17=)SNV Likely benign 532705 rs751525365 16:11650536-11650536 16:11556680-11556680
45 LITAF NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)SNV Benign 317782 rs4280262 16:11647492-11647492 16:11553636-11553636

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

73
# 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
Show member pathways
12.27 TSG101 STAM SBF2 RAB7B RAB7A KIF1B
2 11.65 TSG101 STAM RAB7A NEDD4
3 11.44 PMP22 MPZ GJB1
4 11.29 SBF2 RAB7B RAB7A

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 10.34 TSG101 STAM SBF2 RAB7B RAB7A PRX
2 cytoplasm GO:0005737 10.3 TSG101 STAM SBF2 RAB7A PRX NEFL
3 lysosome GO:0005764 9.77 RAB7B RAB7A MPZ LITAF CDIP1
4 early endosome membrane GO:0031901 9.65 TSG101 STAM MTMR2 LITAF FIG4
5 endosome membrane GO:0010008 9.63 TSG101 SBF2 RAB7A MTMR2 LITAF FIG4
6 endosome GO:0005768 9.61 TSG101 STAM SBF2 RAB7B RAB7A MTMR2
7 cytoplasmic side of lysosomal membrane GO:0098574 9.4 LITAF CDIP1
8 cytoplasmic side of late endosome membrane GO:0098560 9.32 LITAF CDIP1
9 late endosome membrane GO:0031902 9.1 TSG101 RAB7B RAB7A LITAF FIG4 CDIP1

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 endosome to lysosome transport GO:0008333 9.5 TSG101 RAB7B RAB7A
2 phosphatidylinositol metabolic process GO:0046488 9.48 MTMR2 FIG4
3 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway GO:0043162 9.46 TSG101 NEDD4
4 protein targeting to lysosome GO:0006622 9.43 RAB7A NEDD4
5 negative regulation of myelination GO:0031642 9.4 MTMR2 FIG4
6 phagosome-lysosome fusion GO:0090385 9.37 RAB7B RAB7A
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 myelination GO:0042552 9.26 SBF2 PMP22 MPZ EGR2
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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