CHN
MCID: NRP060
MIFTS: 59

Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive (CHN)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive:

Name: Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 57
Charcot-Marie-Tooth Disease Type 4e 12 53 59 75 15
Cmt4e 57 12 53 59 75
Hereditary Motor and Sensory Neuropathy 12 53 29 6
Congenital Hypomyelinating Neuropathy 53 29 6 73
Neuropathy, Congenital Hypomyelinating, 1 57 12 13
Neuropathy, Congenital Hypomyelinating 57 53 55
Charcot-Marie-Tooth Disease Type 4 12 53 15
Chn 57 53 75
Neuropathy, Congenital Hypomyelinating, Autosomal Dominant 29 6
Autosomal Recessive Congenital Hypomyelinating Neuropathy 53 59
Charcot-Marie-Tooth Neuropathy Type 4e 12 75
Charcot-Marie-Tooth Disease, Type Iv 29 6
Hypomyelination, Severe Congenital 57 53
Autosomal Recessive Congenital Hypomyelinating or Amyelinating Neuropathy 12
Neuropathy, Congenital Hypomyelinating, Autosomal Recessive 6
Congenital Hypomyelinating Neuropathy Autosomal Recessive 75
Congenital Hypomyelinating Neuropathy Autosomal Dominant 75
Neuropathy, Congenital Hypomyelinating or Amyelinating 75
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 53
Charcot-Marie-Tooth Disease, Type 4e; Cmt4e 57
Hereditary Motor and Sensory Neuropathies 73
Charcot-Marie-Tooth Neuropathy, Type 4e 57
Neuropathy, Hypomyelinating, Congenital 40
Charcot-Marie-Tooth Disease, Type 4e 57
Charcot Marie Tooth Disease Type 4e 53
Congenital Amyelinating Neuropathy 75
Severe Congenital Hypomyelination 75
Ar-Cmt1 53
Cmt 4e 53
Hmsn 53
Cmt4 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 4e
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset at birth
usually begins in feet and legs (peroneal distribution)
clinical overlap with dejerine-sottas syndrome (dss, )
upper limb involvement may occur later
allelic disorders with clinical overlap include dss and cmt1b


HPO:

32
neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605253
Disease Ontology 12 DOID:0050541 DOID:0110195
ICD10 33 G60.0
Orphanet 59 ORPHA99951
MESH via Orphanet 45 C535301
ICD10 via Orphanet 34 G60.0
MeSH 44 D002607

Summaries for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

OMIM : 57 Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. 7,8: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 or Amyelinating, 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, demyelinating, type 1b. An important gene associated with Neuropathy, Congenital Hypomyelinating or Amyelinating, 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 : 53 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 : 75 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 or Amyelinating, Autosomal...

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

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 34.0 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
2 charcot-marie-tooth disease, demyelinating, type 1b 33.8 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
3 charcot-marie-tooth disease, axonal, type 2a1 33.8 KIF1B MFN2
4 charcot-marie-tooth disease, x-linked dominant, 1 33.8 GJB1 MPZ PMP22
5 charcot-marie-tooth disease, demyelinating, type 1a 33.5 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
6 charcot-marie-tooth disease, demyelinating, type 1c 33.4 EGR2 GJB1 KIF1B MPZ PMP22
7 hypertrophic neuropathy of dejerine-sottas 33.4 EGR2 FGD4 GDAP1 GJB1 KIF1B MPZ
8 charcot-marie-tooth disease, axonal, type 2b 33.2 EGR2 GJB1 KIF1B MPZ PMP22
9 charcot-marie-tooth disease, demyelinating, type 1d 33.0 EGR2 GJB1 KIF1B MPZ MTMR2 NDRG1
10 roussy-levy hereditary areflexic dystasia 33.0 MPZ PMP22
11 charcot-marie-tooth disease and deafness 32.9 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
12 neuropathy, hereditary motor and sensory, russe type 32.9 EGR2 NDRG1 SH3TC2
13 congenital hypomyelination neuropathy 32.9 MPZ PMP22
14 neuropathy, hereditary, with liability to pressure palsies 32.8 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
15 charcot-marie-tooth disease, axonal, type 2d 32.7 GJB1 KIF1B MPZ PMP22
16 charcot-marie-tooth disease, type 4j 32.7 FIG4 MTMR2 SBF2
17 charcot-marie-tooth disease, axonal, type 2e 32.6 EGR2 GDAP1 GJB1 JPH1 KIF1B MFN2
18 motor peripheral neuropathy 32.5 DCAF8 GJB1 KIF1B MFN2 MPZ MTMR2
19 charcot-marie-tooth disease, type 4a 32.5 GDAP1 JPH1 MTMR2 PRX SBF2
20 charcot-marie-tooth disease, type 4b3 32.5 GDAP1 MTM1 MTMR2 SBF1 SBF2
21 charcot-marie-tooth disease, type 4d 32.5 GDAP1 GJB1 MFN2 NDRG1 SH3TC2
22 charcot-marie-tooth disease type 2a 32.4 KIF1B MFN2
23 charcot-marie-tooth disease, type 4b2 32.4 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
24 charcot-marie-tooth disease, type 4b1 32.4 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
25 neuropathy - hereditary 32.4 MPZ PMP22
26 charcot-marie-tooth hereditary neuropathy 31.8 MPZ PMP22
27 sensory peripheral neuropathy 31.6 EGR2 FGD4 GDAP1 GJB1 MFN2 MPZ
28 charcot-marie-tooth disease, axonal, type 2i 31.2 KIF1B MPZ
29 charcot-marie-tooth disease, axonal, type 2j 31.2 KIF1B MPZ
30 charcot-marie-tooth disease, axonal, type 2q 31.2 EGR2 MPZ
31 charcot-marie-tooth disease, demyelinating, type 1f 31.2 GJB1 MPZ PMP22
32 charcot-marie-tooth disease, axonal, type 2f 31.2 GJB1 KIF1B MPZ
33 charcot-marie-tooth disease, demyelinating, type 4f 31.1 GDAP1 MTMR2 PRX SBF2
34 charcot-marie-tooth disease, axonal, type 2k 31.0 GDAP1 JPH1 KIF1B MFN2
35 charcot-marie-tooth disease, axonal, type 2l 30.9 KIF1B MPZ
36 neuromuscular disease 30.3 MPZ MTM1 PMP22
37 polyneuropathy 30.3 GDAP1 MPZ PMP22
38 axonal neuropathy 30.3 DCAF8 GDAP1 MFN2 PMP22
39 tooth disease 30.2 EGR2 FGD4 FIG4 GDAP1 GJB1 KIF1B
40 neuropathy 30.1 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
41 charcot-marie-tooth disease 29.9 EGR2 FGD4 FIG4 GDAP1 GJB1 JPH1
42 hereditary motor and sensory neuropathy v 12.8
43 hereditary motor and sensory neuropathy with acrodystrophy 12.6
44 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 12.5
45 neuropathy, hereditary motor and sensory, okinawa type 12.4
46 gdap1-related hereditary motor and sensory neuropathy 12.4
47 neuropathy, hereditary motor and sensory, type via 12.4
48 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 12.2
49 charcot-marie-tooth disease, type 4k 12.2
50 agenesis of the corpus callosum with peripheral neuropathy 12.0

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



Diseases related to Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

Symptoms via clinical synopsis from OMIM:

57
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
Skeletal:
arthrogryposis multiplex congenita may occur

Respiratory:
respiratory failure due to neuropathy


Clinical features from OMIM:

605253

Human phenotypes related to Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 32 HP:0001319
2 peripheral neuropathy 32 HP:0009830
3 decreased motor nerve conduction velocity 32 HP:0003431
4 motor delay 32 HP:0001270
5 areflexia 32 HP:0001284
6 upper limb muscle weakness 32 HP:0003484
7 distal muscle weakness 32 HP:0002460
8 distal amyotrophy 32 HP:0003693
9 onion bulb formation 32 HP:0003383
10 abnormal cranial nerve morphology 32 HP:0001291
11 peripheral hypomyelination 32 HP:0007182

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 GJB1
2 Decreased viability GR00240-S-1 10.1 TFG
3 Decreased viability GR00381-A-1 10.1 FGD4 FIG4 MPZ PRX SH3TC2
4 Decreased viability GR00381-A-3 10.1 MPZ
5 Decreased viability GR00402-S-2 10.1 DCAF8 EGR2 FGD4 FIG4 GDAP1 GJB1
6 no effect GR00402-S-1 9.62 DCAF8 EGR2 FGD4 FIG4 GDAP1 GJB1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 EGR2 FGD4 FIG4 GDAP1 GJB1 JPH1
2 growth/size/body region MP:0005378 10.14 EGR2 FIG4 GJB1 KIF1B MFN2 MTM1
3 cellular MP:0005384 10.13 EGR2 GDAP1 GJB1 MFN2 MPZ MTM1
4 homeostasis/metabolism MP:0005376 10.11 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
5 mortality/aging MP:0010768 10.07 EGR2 FIG4 GJB1 JPH1 KIF1B MFN2
6 nervous system MP:0003631 9.83 EGR2 FGD4 FIG4 GDAP1 GJB1 KIF1B
7 muscle MP:0005369 9.81 FIG4 JPH1 KIF1B MFN2 MTM1 NDRG1
8 limbs/digits/tail MP:0005371 9.8 EGR2 FIG4 GDAP1 KIF1B MTMR2 PMP22
9 reproductive system MP:0005389 9.23 EGR2 MPZ MTM1 MTMR2 PMP22 SBF1

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

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

Genetic Tests for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

Genetic tests related to Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Congenital Hypomyelinating Neuropathy 29 EGR2 MPZ
2 Charcot-Marie-Tooth Disease, Type Iv 29 SBF1
3 Hereditary Motor and Sensory Neuropathy 29
4 Neuropathy, Congenital Hypomyelinating, Autosomal Dominant 29

Anatomical Context for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

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

41
Spinal Cord, Brain, Testes, T Cells, Skeletal Muscle, Skin

Publications for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

Articles related to Neuropathy, Congenital Hypomyelinating or Amyelinating, 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 or Amyelinating, Autosomal...

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

75
# 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 or Amyelinating, Autosomal Recessive:

6 (show top 50) (show all 3218)
# Gene Variation Type Significance SNP ID Assembly Location
1 FIG4 NM_014845.5(FIG4): c.122T> C (p.Ile41Thr) single nucleotide variant Pathogenic rs121908287 GRCh37 Chromosome 6, 110036336: 110036336
2 FIG4 NM_014845.5(FIG4): c.122T> C (p.Ile41Thr) single nucleotide variant Pathogenic rs121908287 GRCh38 Chromosome 6, 109715133: 109715133
3 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
4 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh38 Chromosome 5, 149026872: 149026872
5 SH3TC2 NM_024577.3(SH3TC2): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs80338934 GRCh37 Chromosome 5, 148389835: 148389835
6 SH3TC2 NM_024577.3(SH3TC2): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs80338934 GRCh38 Chromosome 5, 149010272: 149010272
7 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh37 Chromosome 5, 148422281: 148422281
8 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh38 Chromosome 5, 149042718: 149042718
9 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh37 Chromosome 19, 40901402: 40901402
10 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh38 Chromosome 19, 40395495: 40395495
11 PRX NM_181882.2(PRX): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs104894715 GRCh37 Chromosome 19, 40903157: 40903157
12 PRX NM_181882.2(PRX): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs104894715 GRCh38 Chromosome 19, 40397250: 40397250
13 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh37 Chromosome 19, 40902114: 40902114
14 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh38 Chromosome 19, 40396207: 40396207
15 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh37 Chromosome 19, 40901051: 40901051
16 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh38 Chromosome 19, 40395144: 40395144
17 NDRG1 NM_001135242.1(NDRG1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs119483085 GRCh37 Chromosome 8, 134270617: 134270617
18 NDRG1 NM_001135242.1(NDRG1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs119483085 GRCh38 Chromosome 8, 133258374: 133258374
19 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
20 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
21 MPZ NM_000530.7(MPZ): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121913593 GRCh37 Chromosome 1, 161275900: 161275900
22 MPZ NM_000530.7(MPZ): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121913593 GRCh38 Chromosome 1, 161306110: 161306110
23 MPZ MPZ, 3-BP DEL/1-BP INS, NT550 indel Pathogenic
24 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
25 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
26 EGR2 NM_000399.4(EGR2): c.803T> A (p.Ile268Asn) single nucleotide variant Pathogenic rs104894158 GRCh37 Chromosome 10, 64573595: 64573595
27 EGR2 NM_000399.4(EGR2): c.803T> A (p.Ile268Asn) single nucleotide variant Pathogenic rs104894158 GRCh38 Chromosome 10, 62813835: 62813835
28 EGR2 NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg) single nucleotide variant Pathogenic rs281865138 GRCh37 Chromosome 10, 64573252: 64573252
29 EGR2 NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg) single nucleotide variant Pathogenic rs281865138 GRCh38 Chromosome 10, 62813492: 62813492
30 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh37 Chromosome 5, 148407326: 148407326
31 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh38 Chromosome 5, 149027763: 149027763
32 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 GRCh37 Chromosome 5, 148407323: 148407323
33 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 GRCh38 Chromosome 5, 149027760: 149027760
34 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh37 Chromosome 5, 148406585: 148406585
35 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh38 Chromosome 5, 149027022: 149027022
36 EGR2 NM_000399.4(EGR2): c.1147G> T (p.Asp383Tyr) single nucleotide variant Pathogenic rs104894160 GRCh37 Chromosome 10, 64573251: 64573251
37 EGR2 NM_000399.4(EGR2): c.1147G> T (p.Asp383Tyr) single nucleotide variant Pathogenic rs104894160 GRCh38 Chromosome 10, 62813491: 62813491
38 FGD4 NM_139241.3(FGD4): c.893T> G (p.Met298Arg) single nucleotide variant Likely pathogenic rs63749871 GRCh37 Chromosome 12, 32755151: 32755151
39 FGD4 NM_139241.3(FGD4): c.893T> G (p.Met298Arg) single nucleotide variant Likely pathogenic rs63749871 GRCh38 Chromosome 12, 32602217: 32602217
40 PRX NM_181882.2(PRX): c.1951G> A (p.Asp651Asn) single nucleotide variant Uncertain significance rs3814290 GRCh37 Chromosome 19, 40902308: 40902308
41 PRX NM_181882.2(PRX): c.1951G> A (p.Asp651Asn) single nucleotide variant Uncertain significance rs3814290 GRCh38 Chromosome 19, 40396401: 40396401
42 MPZ; SDHC NM_003001.3(SDHC): c.20+11_20+12dupTG duplication Benign rs35215598 GRCh37 Chromosome 1, 161284226: 161284227
43 MPZ; SDHC NM_003001.3(SDHC): c.20+11_20+12dupTG duplication Benign rs35215598 GRCh38 Chromosome 1, 161314436: 161314437
44 SBF2 NM_030962.3(SBF2): c.5035C> T (p.Arg1679Cys) single nucleotide variant Uncertain significance rs79401259 GRCh37 Chromosome 11, 9809183: 9809183
45 SBF2 NM_030962.3(SBF2): c.5035C> T (p.Arg1679Cys) single nucleotide variant Uncertain significance rs79401259 GRCh38 Chromosome 11, 9787636: 9787636
46 SBF2 NM_030962.3(SBF2): c.5035C> T (p.Arg1679Cys) single nucleotide variant Uncertain significance rs79401259 NCBI36 Chromosome 11, 9765759: 9765759
47 MPZ NM_000530.7(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh37 Chromosome 1, 161275729: 161275729
48 MPZ NM_000530.7(MPZ): c.684C> T (p.Ser228=) single nucleotide variant Benign/Likely benign rs34307129 GRCh38 Chromosome 1, 161305939: 161305939
49 PRX NM_181882.2(PRX): c.2645T> C (p.Val882Ala) single nucleotide variant Benign rs268671 GRCh37 Chromosome 19, 40901614: 40901614
50 PRX NM_181882.2(PRX): c.2645T> C (p.Val882Ala) single nucleotide variant Benign rs268671 GRCh38 Chromosome 19, 40395707: 40395707

Expression for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

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

Pathways for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

Pathways related to Neuropathy, Congenital Hypomyelinating or Amyelinating, 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 or Amyelinating, Autosomal...

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.44 DCAF8 EGR2 FGD4 GDAP1 GJB1 KIF1B
2 vacuolar membrane GO:0005774 8.96 MTMR2 SBF2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of GTPase activity GO:0043087 9.54 FGD4 SBF1 SBF2
2 protein targeting to mitochondrion GO:0006626 9.49 GDAP1 MFN2
3 peripheral nervous system development GO:0007422 9.48 EGR2 PMP22
4 phosphatidylinositol dephosphorylation GO:0046856 9.46 MTM1 MTMR2
5 phosphatidylinositol biosynthetic process GO:0006661 9.46 FIG4 MTM1 MTMR2 SBF1
6 phosphatidylinositol metabolic process GO:0046488 9.43 FIG4 MTMR2
7 mitochondrial fusion GO:0008053 9.4 GDAP1 MFN2
8 peripheral nervous system myelin maintenance GO:0032287 9.32 NDRG1 SH3TC2
9 negative regulation of myelination GO:0031642 9.26 FIG4 MTMR2
10 myelination GO:0042552 9.26 EGR2 MPZ PMP22 SBF2
11 myelin assembly GO:0032288 8.8 FIG4 MTMR2 PMP22

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.16 MTM1 MTMR2
2 phosphatase regulator activity GO:0019208 8.96 SBF1 SBF2
3 phosphatidylinositol-3-phosphatase activity GO:0004438 8.8 FIG4 MTM1 MTMR2

Sources for Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal...

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