CHN
MCID: NRP063
MIFTS: 54

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive (CHN)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

Name: Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 58
Charcot-Marie-Tooth Disease Type 4e 12 54 60 76 15
Cmt4e 58 12 54 60 76
Hereditary Motor and Sensory Neuropathy 12 54 30 6
Charcot-Marie-Tooth Disease Type 4 12 54 6 15
Congenital Hypomyelinating Neuropathy 1, Autosomal Recessive 30 6
Neuropathy, Congenital Hypomyelinating, Autosomal Dominant 30 6
Autosomal Recessive Congenital Hypomyelinating Neuropathy 54 60
Neuropathy, Congenital Hypomyelinating, 1 12 13
Charcot-Marie-Tooth Neuropathy Type 4e 12 76
Neuropathy, Congenital Hypomyelinating 54 56
Hypomyelination, Severe Congenital 58 54
Chn 54 76
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 58
Autosomal Recessive Congenital Hypomyelinating or Amyelinating Neuropathy 12
Congenital Hypomyelinating Neuropathy Autosomal Recessive 76
Congenital Hypomyelinating Neuropathy Autosomal Dominant 76
Neuropathy, Congenital Hypomyelinating or Amyelinating 76
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 54
Charcot-Marie-Tooth Disease, Type 4e; Cmt4e 58
Hypomyelinating Neuropathy, Congenital, 1 58
Charcot-Marie-Tooth Neuropathy, Type 4e 58
Neuropathy, Hypomyelinating, Congenital 41
Congenital Hypomyelinating Neuropathy 54
Charcot-Marie-Tooth Disease, Type 4e 58
Charcot-Marie-Tooth Disease, Type Iv 30
Charcot Marie Tooth Disease Type 4e 54
Congenital Amyelinating Neuropathy 76
Severe Congenital Hypomyelination 76
Ar-Cmt1 54
Cmt 4e 54
Chn1 58
Hmsn 54
Cmt4 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 4e
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant (in 1 patient)

Miscellaneous:
onset at birth
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
one patient with sporadic occurrence (autosomal dominant) and a de novo mutation has been reported


HPO:

33
neuropathy, congenital hypomyelinating, 1, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050541 DOID:0110195
OMIM 58 605253
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C535301
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA99951

Summaries for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

OMIM : 58 Congenital hypomyelinating neuropathy (CHN) is characterized clinically by onset of hypotonia at birth, areflexia, distal muscle weakness, and very slow nerve conduction velocities (often less than 10 m/s). 5,4:Warner et al. (1997, 1998) noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation. There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; 145900) because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see Balestrini et al., 1991), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve. There is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, Harati and Butler (1985) showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome. (605253)

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive, also known as charcot-marie-tooth disease type 4e, is related to hereditary motor and sensory neuropathy, type iic and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive is EGR2 (Early Growth Response 2), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are neonatal hypotonia and peripheral neuropathy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.

NIH Rare Diseases : 54 Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic group. In general, people with CMT4 develop symptoms of leg weakness in childhood and by adolescence they may not be able to walk. Other signs and symptoms include distal muscle tissue loss (muscle atrophy) associated with sensory loss and, an abnormally high arched foot (pes cavus). Sub-types may have slightly different clinical features between them. Several genes have been identified as causing CMT4, including GDAP1 (CMT4A), MTMR13 (CMT4B1), MTMR2 (CMT4B2), SH3TC2 (CMT4C), NDG1(CMT4D), EGR2 (CMT4E), PRX (CMT4F), FDG4 (CMT4H), and FIG4 (CMT4J). CMT4 is distinguished from other forms of CMT by its autosomal recessive inheritance. Treatment is symptomatic and includes physical therapy, corrective surgery (when needed) and pain medication.

UniProtKB/Swiss-Prot : 76 Neuropathy, congenital hypomyelinating or amyelinating: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive.

Related Diseases for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Diseases in the Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive family:

Neuropathy, Congenital Hypomyelinating, 2 Neuropathy, Congenital Hypomyelinating, 3

Diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 34.1 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
2 charcot-marie-tooth disease, axonal, type 2a1 34.0 KIF1B MFN2
3 charcot-marie-tooth disease, x-linked dominant, 1 34.0 GJB1 MPZ PMP22
4 charcot-marie-tooth disease, demyelinating, type 1b 33.9 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
5 charcot-marie-tooth disease, demyelinating, type 1a 33.7 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
6 charcot-marie-tooth disease, demyelinating, type 1c 33.6 EGR2 GJB1 KIF1B MPZ PMP22
7 charcot-marie-tooth disease, axonal, type 2b 33.4 EGR2 GJB1 KIF1B MPZ PMP22
8 roussy-levy hereditary areflexic dystasia 33.2 MPZ PMP22
9 hypertrophic neuropathy of dejerine-sottas 33.2 DRP2 EGR2 FGD4 GDAP1 GJB1 KIF1B
10 neuropathy, hereditary motor and sensory, russe type 33.1 EGR2 NDRG1 SH3TC2
11 congenital hypomyelination neuropathy 33.1 MPZ PMP22
12 charcot-marie-tooth disease, demyelinating, type 1d 33.0 EGR2 GJB1 KIF1B MPZ MTMR2 NDRG1
13 charcot-marie-tooth disease and deafness 32.9 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
14 charcot-marie-tooth disease, type 4j 32.9 FIG4 MTMR2 SBF2
15 charcot-marie-tooth disease, axonal, type 2d 32.9 GJB1 KIF1B MPZ PMP22
16 neuropathy, hereditary, with liability to pressure palsies 32.8 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
17 charcot-marie-tooth disease, type 4a 32.8 GDAP1 MTMR2 PRX SBF2
18 charcot-marie-tooth disease, type 4b3 32.7 GDAP1 MTMR2 SBF1 SBF2
19 charcot-marie-tooth disease, axonal, type 2e 32.7 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
20 charcot-marie-tooth disease type 2a 32.7 KIF1B MFN2
21 charcot-marie-tooth disease, type 4b2 32.7 GDAP1 MTMR2 PRX SBF1 SBF2
22 charcot-marie-tooth disease, type 4b1 32.6 GDAP1 MTMR2 PRX SBF1 SBF2
23 charcot-marie-tooth disease, type 4d 32.6 GDAP1 GJB1 MFN2 NDRG1 SH3TC2
24 motor peripheral neuropathy 32.5 DCAF8 GJB1 KIF1B MFN2 MPZ MTMR2
25 charcot-marie-tooth hereditary neuropathy 32.0 MPZ PMP22
26 neuropathy 31.6 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
27 charcot-marie-tooth disease, axonal, type 2i 31.5 KIF1B MPZ
28 sensory peripheral neuropathy 31.5 EGR2 FGD4 GDAP1 GJB1 MFN2 MPZ
29 charcot-marie-tooth disease, axonal, type 2j 31.4 KIF1B MPZ
30 charcot-marie-tooth disease, demyelinating, type 1f 31.4 GJB1 MPZ PMP22
31 charcot-marie-tooth disease, axonal, type 2q 31.4 EGR2 MPZ
32 charcot-marie-tooth disease, axonal, type 2f 31.4 GJB1 KIF1B MPZ
33 charcot-marie-tooth disease, axonal, type 2k 31.3 GDAP1 KIF1B MFN2
34 charcot-marie-tooth disease, axonal, type 2l 31.3 KIF1B MPZ
35 charcot-marie-tooth disease, demyelinating, type 4f 31.2 DRP2 GDAP1 MTMR2 PRX SBF2
36 polyneuropathy 30.4 GDAP1 MPZ PMP22
37 axonal neuropathy 30.4 DCAF8 GDAP1 MFN2 PMP22
38 tooth disease 29.9 EGR2 FGD4 FIG4 GDAP1 GJB1 KIF1B
39 charcot-marie-tooth disease 29.3 ACKR1 DRP2 EGR2 FGD4 FIG4 GDAP1
40 hereditary motor and sensory neuropathy v 12.9
41 hereditary motor and sensory neuropathy with acrodystrophy 12.7
42 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 12.6
43 neuropathy, hereditary motor and sensory, okinawa type 12.4
44 gdap1-related hereditary motor and sensory neuropathy 12.4
45 neuropathy, hereditary motor and sensory, type via 12.4
46 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 12.3
47 charcot-marie-tooth disease, type 4k 12.2
48 agenesis of the corpus callosum with peripheral neuropathy 12.1
49 neuropathy, hereditary motor and sensory, type vib 11.9
50 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 11.9

Graphical network of the top 20 diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:



Diseases related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Human phenotypes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 33 HP:0001319
2 peripheral neuropathy 33 HP:0009830
3 decreased motor nerve conduction velocity 33 HP:0003431
4 motor delay 33 HP:0001270
5 areflexia 33 HP:0001284
6 upper limb muscle weakness 33 HP:0003484
7 distal muscle weakness 33 HP:0002460
8 distal amyotrophy 33 HP:0003693
9 onion bulb formation 33 HP:0003383
10 abnormal cranial nerve morphology 33 HP:0001291
11 peripheral hypomyelination 33 HP:0007182

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
neonatal hypotonia
areflexia
delayed motor development
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Respiratory:
respiratory insufficiency due to neuropathy

Clinical features from OMIM:

605253

GenomeRNAi Phenotypes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACKR1 DCAF8 DRP2 EGR2 FGD4 FIG4

MGI Mouse Phenotypes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 EGR2 FGD4 FIG4 GDAP1 GJB1 KIF1B
2 homeostasis/metabolism MP:0005376 10 ACKR1 EGR2 GDAP1 GJB1 KIF1B MFN2
3 limbs/digits/tail MP:0005371 9.63 EGR2 FIG4 GDAP1 KIF1B MTMR2 PMP22
4 nervous system MP:0003631 9.53 DRP2 EGR2 FGD4 FIG4 GDAP1 GJB1
5 muscle MP:0005369 9.5 FIG4 KIF1B MFN2 NDRG1 PMP22 SH3TC2

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Genetic Tests for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Genetic tests related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Congenital Hypomyelinating Neuropathy 1, Autosomal Recessive 30 EGR2
2 Charcot-Marie-Tooth Disease, Type Iv 30
3 Hereditary Motor and Sensory Neuropathy 30
4 Neuropathy, Congenital Hypomyelinating, Autosomal Dominant 30

Anatomical Context for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

MalaCards organs/tissues related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

42
Spinal Cord, Brain, Testes, Skeletal Muscle, T Cells

Publications for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Articles related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

(show top 50) (show all 236)
# Title Authors Year
1
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family. ( 30038111 )
2018
2
BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. ( 30536747 )
2018
3
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. ( 30460542 )
2018
4
The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients. ( 29552439 )
2018
5
Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy. ( 28641335 )
2017
6
COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report. ( 26302975 )
2016
7
Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation. ( 26136520 )
2015
8
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. ( 25583183 )
2014
9
Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement. ( 25258575 )
2014
10
Talectomy for equinovarus deformity in family members with hereditary motor and sensory neuropathy type I. ( 25610681 )
2014
11
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. ( 24126688 )
2013
12
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. ( 22978647 )
2013
13
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position. ( 23384994 )
2013
14
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. ( 23553329 )
2013
15
Severe fatigue and reduced quality of life in children with hereditary motor and sensory neuropathy 1A. ( 22752492 )
2013
16
Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P). ( 23703013 )
2013
17
Pulmonary function in patients with hereditary motor and sensory neuropathy: a comparison of patients with and without spinal deformity. ( 22727686 )
2012
18
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. ( 22883144 )
2012
19
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. ( 22423107 )
2012
20
Salvage procedures in lower-extremity trauma in a child with hereditary motor and sensory neuropathy type I: a case report. ( 22947070 )
2012
21
[Molecular pathogenesis of hereditary motor and sensory neuropathy]. ( 22235654 )
2011
22
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. ( 21628467 )
2011
23
Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI. ( 21707411 )
2011
24
Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy. ( 21836032 )
2011
25
Optinurin inclusions in proximal hereditary motor and sensory neuropathy (HMSN-P): familial amyotrophic lateral sclerosis with sensory neuronopathy? ( 21949104 )
2011
26
Combination of myotonic dystrophy and hereditary motor and sensory neuropathy. ( 19846120 )
2010
27
[Hereditary motor and sensory neuropathy type 4A]. ( 21322820 )
2010
28
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). ( 19536174 )
2009
29
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene. ( 20020398 )
2009
30
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. ( 19541485 )
2009
31
Limited upper limb functioning has impact on restrictions in participation and autonomy of patients with hereditary motor and sensory neuropathy 1a. ( 19774309 )
2009
32
Hereditary motor and sensory neuropathy Lom type in a Serbian family. ( 19364063 )
2008
33
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. ( 18957892 )
2008
34
Manual dexterity and related functional limitations in hereditary motor and sensory neuropathy. An explorative study. ( 17852296 )
2008
35
Manual dexterity in hereditary motor and sensory neuropathy type 1a: severity of limitations and feasibility and reliability of two assessment instruments. ( 18509578 )
2008
36
Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough. ( 18662816 )
2008
37
Recurrent takotsubo cardiomyopathy within a short span of time in a patient with hereditary motor and sensory neuropathy. ( 18797121 )
2008
38
Gene symbol: GJB1. Disease: Hereditary motor and sensory neuropathy type X? ( 18846638 )
2008
39
Gene symbol: GJB1. Disease: Hereditary motor and sensory neuropathy type X. ( 18846639 )
2008
40
Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. ( 18090092 )
2007
41
Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I. ( 17376125 )
2007
42
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. ( 17410579 )
2007
43
Hereditary motor and sensory neuropathy (proximal dominant form, HMSN-P) among Brazilians of Japanese ancestry. ( 17764830 )
2007
44
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. ( 17906970 )
2007
45
Ambulatory disabilities and the use of walking aids in patients with hereditary motor and sensory neuropathy type I (HMSN I). ( 19263552 )
2007
46
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. ( 16844954 )
2006
47
Tumor-like brain lesions in a patient with Hashimoto encephalopathy and hereditary motor and sensory neuropathy. ( 17039979 )
2006
48
New mutation of gap junction protein beta1 (GJB1) gene in X-linked hereditary motor and sensory neuropathy. ( 16519791 )
2006
49
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. ( 15668982 )
2005
50
Foot deformities in children with hereditary motor and sensory neuropathy. ( 15718910 )
2005

Variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 EGR2 p.Ile268Asn VAR_007735 rs104894158
2 MPZ p.Thr124Lys VAR_029978 rs121913595

ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive:

6 (show top 50) (show all 3215)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.3550A> G (p.Met1184Val) single nucleotide variant Uncertain significance rs142451273 GRCh38 Chromosome 5, 149007006: 149007006
2 SH3TC2 NM_024577.3(SH3TC2): c.3550A> G (p.Met1184Val) single nucleotide variant Uncertain significance rs142451273 GRCh37 Chromosome 5, 148386569: 148386569
3 MTMR2 NM_016156.5(MTMR2): c.810A> C (p.Leu270Phe) single nucleotide variant Uncertain significance rs587779385 GRCh38 Chromosome 11, 95849857: 95849857
4 MTMR2 NM_016156.5(MTMR2): c.810A> C (p.Leu270Phe) single nucleotide variant Uncertain significance rs587779385 GRCh37 Chromosome 11, 95583021: 95583021
5 SH3TC2 NM_024577.3(SH3TC2): c.3686A> T (p.Asp1229Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146920285 GRCh38 Chromosome 5, 149004892: 149004892
6 SH3TC2 NM_024577.3(SH3TC2): c.3686A> T (p.Asp1229Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146920285 GRCh37 Chromosome 5, 148384455: 148384455
7 SH3TC2 NM_024577.3(SH3TC2): c.2691C> G (p.Asn897Lys) single nucleotide variant Benign/Likely benign rs73795753 GRCh38 Chromosome 5, 149027041: 149027041
8 SH3TC2 NM_024577.3(SH3TC2): c.2691C> G (p.Asn897Lys) single nucleotide variant Benign/Likely benign rs73795753 GRCh37 Chromosome 5, 148406604: 148406604
9 SH3TC2 NM_024577.3(SH3TC2): c.31C> T (p.Arg11Trp) single nucleotide variant Uncertain significance rs149762843 GRCh37 Chromosome 5, 148442555: 148442555
10 SH3TC2 NM_024577.3(SH3TC2): c.31C> T (p.Arg11Trp) single nucleotide variant Uncertain significance rs149762843 GRCh38 Chromosome 5, 149062992: 149062992
11 NDRG1 NM_006096.3(NDRG1): c.331A> C (p.Met111Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2233328 GRCh37 Chromosome 8, 134271469: 134271469
12 NDRG1 NM_006096.3(NDRG1): c.331A> C (p.Met111Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2233328 GRCh38 Chromosome 8, 133259226: 133259226
13 SBF2 NM_030962.3(SBF2): c.700C> T (p.Leu234Phe) single nucleotide variant Uncertain significance rs749378136 GRCh37 Chromosome 11, 10024156: 10024156
14 SBF2 NM_030962.3(SBF2): c.700C> T (p.Leu234Phe) single nucleotide variant Uncertain significance rs749378136 GRCh38 Chromosome 11, 10002609: 10002609
15 MTMR2 NM_016156.5(MTMR2): c.14C> G (p.Ser5Trp) single nucleotide variant Uncertain significance rs778430688 GRCh38 Chromosome 11, 95923941: 95923941
16 MTMR2 NM_016156.5(MTMR2): c.14C> G (p.Ser5Trp) single nucleotide variant Uncertain significance rs778430688 GRCh37 Chromosome 11, 95657105: 95657105
17 SBF2 NM_030962.3(SBF2): c.3110G> C (p.Arg1037Pro) single nucleotide variant Uncertain significance rs748477865 GRCh38 Chromosome 11, 9845565: 9845565
18 SBF2 NM_030962.3(SBF2): c.3110G> C (p.Arg1037Pro) single nucleotide variant Uncertain significance rs748477865 GRCh37 Chromosome 11, 9867112: 9867112
19 FGD4 NM_139241.3(FGD4): c.667A> C (p.Asn223His) single nucleotide variant Uncertain significance rs761788290 GRCh37 Chromosome 12, 32751497: 32751497
20 FGD4 NM_139241.3(FGD4): c.667A> C (p.Asn223His) single nucleotide variant Uncertain significance rs761788290 GRCh38 Chromosome 12, 32598563: 32598563
21 FGD4 NM_139241.3(FGD4): c.1366C> A (p.Pro456Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138160928 GRCh37 Chromosome 12, 32772659: 32772659
22 FGD4 NM_139241.3(FGD4): c.1366C> A (p.Pro456Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138160928 GRCh38 Chromosome 12, 32619725: 32619725
23 FGD4 NM_139241.3(FGD4): c.1711C> A (p.Pro571Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144693221 GRCh37 Chromosome 12, 32778663: 32778663
24 FGD4 NM_139241.3(FGD4): c.1711C> A (p.Pro571Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144693221 GRCh38 Chromosome 12, 32625729: 32625729
25 FGD4 NM_139241.3(FGD4): c.2149G> A (p.Val717Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61753359 GRCh37 Chromosome 12, 32793315: 32793315
26 FGD4 NM_139241.3(FGD4): c.2149G> A (p.Val717Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61753359 GRCh38 Chromosome 12, 32640381: 32640381
27 PRX NM_181882.2(PRX): c.3400G> T (p.Val1134Leu) single nucleotide variant Uncertain significance rs786204203 GRCh38 Chromosome 19, 40394952: 40394952
28 PRX NM_181882.2(PRX): c.3400G> T (p.Val1134Leu) single nucleotide variant Uncertain significance rs786204203 GRCh37 Chromosome 19, 40900859: 40900859
29 SH3TC2 NM_024577.3(SH3TC2): c.1862G> A (p.Arg621His) single nucleotide variant Conflicting interpretations of pathogenicity rs143032801 GRCh37 Chromosome 5, 148407433: 148407433
30 SH3TC2 NM_024577.3(SH3TC2): c.1862G> A (p.Arg621His) single nucleotide variant Conflicting interpretations of pathogenicity rs143032801 GRCh38 Chromosome 5, 149027870: 149027870
31 SH3TC2 NM_024577.3(SH3TC2): c.2087A> G (p.His696Arg) single nucleotide variant Benign rs17109261 GRCh37 Chromosome 5, 148407208: 148407208
32 SH3TC2 NM_024577.3(SH3TC2): c.2087A> G (p.His696Arg) single nucleotide variant Benign rs17109261 GRCh38 Chromosome 5, 149027645: 149027645
33 FGD4 NM_139241.3(FGD4): c.1560C> T (p.Ile520=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748364 GRCh37 Chromosome 12, 32777927: 32777927
34 FGD4 NM_139241.3(FGD4): c.1560C> T (p.Ile520=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748364 GRCh38 Chromosome 12, 32624993: 32624993
35 MTMR2 NM_016156.5(MTMR2): c.1634A> G (p.Asn545Ser) single nucleotide variant Benign/Likely benign rs558018 GRCh37 Chromosome 11, 95569448: 95569448
36 MTMR2 NM_016156.5(MTMR2): c.1634A> G (p.Asn545Ser) single nucleotide variant Benign/Likely benign rs558018 GRCh38 Chromosome 11, 95836284: 95836284
37 FGD4 NM_139241.3(FGD4): c.1659C> G (p.Ala553=) single nucleotide variant Conflicting interpretations of pathogenicity rs188104446 GRCh37 Chromosome 12, 32778611: 32778611
38 FGD4 NM_139241.3(FGD4): c.1659C> G (p.Ala553=) single nucleotide variant Conflicting interpretations of pathogenicity rs188104446 GRCh38 Chromosome 12, 32625677: 32625677
39 SBF2 NM_030962.3(SBF2): c.2323G> A (p.Gly775Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141330687 GRCh37 Chromosome 11, 9878045: 9878045
40 SBF2 NM_030962.3(SBF2): c.2323G> A (p.Gly775Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141330687 GRCh38 Chromosome 11, 9856498: 9856498
41 FGD4 NM_139241.3(FGD4): c.435C> G (p.Asp145Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs904582 GRCh37 Chromosome 12, 32735236: 32735236
42 FGD4 NM_139241.3(FGD4): c.435C> G (p.Asp145Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs904582 GRCh38 Chromosome 12, 32582302: 32582302
43 SH3TC2 NM_024577.3(SH3TC2): c.3315G> A (p.Val1105=) single nucleotide variant Conflicting interpretations of pathogenicity rs375970910 GRCh38 Chromosome 5, 149010282: 149010282
44 SH3TC2 NM_024577.3(SH3TC2): c.3315G> A (p.Val1105=) single nucleotide variant Conflicting interpretations of pathogenicity rs375970910 GRCh37 Chromosome 5, 148389845: 148389845
45 SH3TC2 NM_024577.3(SH3TC2): c.1973G> A (p.Arg658His) single nucleotide variant Uncertain significance rs138040787 GRCh38 Chromosome 5, 149027759: 149027759
46 SH3TC2 NM_024577.3(SH3TC2): c.1973G> A (p.Arg658His) single nucleotide variant Uncertain significance rs138040787 GRCh37 Chromosome 5, 148407322: 148407322
47 SH3TC2 NM_024577.3(SH3TC2): c.1662delC (p.Ile555Serfs) deletion Pathogenic rs863224520 GRCh38 Chromosome 5, 149028070: 149028070
48 SH3TC2 NM_024577.3(SH3TC2): c.1662delC (p.Ile555Serfs) deletion Pathogenic rs863224520 GRCh37 Chromosome 5, 148407633: 148407633
49 SH3TC2 NM_024577.3(SH3TC2): c.1586_1587delGTinsAG (p.Arg529Gln) indel Pathogenic rs863224454 GRCh38 Chromosome 5, 149028145: 149028146
50 SH3TC2 NM_024577.3(SH3TC2): c.1586_1587delGTinsAG (p.Arg529Gln) indel Pathogenic rs863224454 GRCh37 Chromosome 5, 148407708: 148407709

Expression for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Search GEO for disease gene expression data for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive.

Pathways for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Pathways related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Cellular components related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

Biological processes related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of GTPase activity GO:0043087 9.54 FGD4 SBF1 SBF2
2 phosphatidylinositol biosynthetic process GO:0006661 9.5 FIG4 MTMR2 SBF1
3 protein targeting to mitochondrion GO:0006626 9.48 GDAP1 MFN2
4 peripheral nervous system development GO:0007422 9.46 EGR2 PMP22
5 phosphatidylinositol metabolic process GO:0046488 9.43 FIG4 MTMR2
6 mitochondrial fusion GO:0008053 9.4 GDAP1 MFN2
7 peripheral nervous system myelin maintenance GO:0032287 9.26 NDRG1 SH3TC2
8 myelination GO:0042552 9.26 EGR2 MPZ PMP22 SBF2
9 negative regulation of myelination GO:0031642 9.16 FIG4 MTMR2
10 myelin assembly GO:0032288 8.8 FIG4 MTMR2 PMP22

Molecular functions related to Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.96 FIG4 MTMR2
2 phosphatase regulator activity GO:0019208 8.62 SBF1 SBF2

Sources for Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

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