MCID: NRP060
MIFTS: 50

Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal 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
Cmt4 24 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 Neuropathy Type 4 24
Charcot-Marie-Tooth Disease, Type 4e 57
Charcot Marie Tooth Disease Type 4e 53
Hereditary Sensory Motor Neuropathy 55
Congenital Amyelinating Neuropathy 75
Severe Congenital Hypomyelination 75
Charcot-Marie-Tooth, Type 4 6
Ar-Cmt1 53
Cmt 4e 53
Hmsn 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
UMLS 73 C0393818

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 neuropathy, hereditary motor and sensory, russe type. 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. Related phenotypes are motor delay and areflexia

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.

GeneReviews: NBK1468

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 63)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 33.9 GDAP1 GJB1 KIF1B MFN2 MPZ NDRG1
2 neuropathy, hereditary motor and sensory, russe type 33.6 EGR2 NDRG1 SH3TC2
3 congenital hypomyelination neuropathy 33.6 MPZ PMP22
4 charcot-marie-tooth disease, type 4j 33.4 FIG4 MTMR2 SBF2
5 charcot-marie-tooth disease, demyelinating, type 4f 33.2 GDAP1 MTMR2 PRX SBF2
6 charcot-marie-tooth disease, type 4a 32.9 GDAP1 JPH1 MTMR2 PRX SBF2
7 charcot-marie-tooth disease, type 4b3 32.8 GDAP1 MTM1 MTMR2 SBF1 SBF2
8 charcot-marie-tooth disease, type 4d 32.7 GDAP1 GJB1 MFN2 NDRG1 SH3TC2
9 charcot-marie-tooth disease, type 4b2 32.6 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
10 charcot-marie-tooth disease, type 4b1 32.6 GDAP1 MTM1 MTMR2 PRX SBF1 SBF2
11 neuropathy 30.1 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
12 tooth disease 28.4 DYNC1H1 EGR2 FGD4 FIG4 GDAP1 GJB1
13 charcot-marie-tooth disease 27.4 DYNC1H1 EGR2 FGD4 FIG4 GDAP1 GJB1
14 hereditary motor and sensory neuropathy v 12.7
15 hereditary motor and sensory neuropathy with acrodystrophy 12.4
16 gdap1-related hereditary motor and sensory neuropathy 12.2
17 charcot-marie-tooth disease, type 4k 12.0
18 cowchock syndrome 11.6
19 charcot-marie-tooth disease, type 4c 11.3
20 charcot-marie-tooth disease, type 4h 11.3
21 hereditary neuropathy with liability to pressure palsy 11.0 MPZ PMP22
22 charcot-marie-tooth disease, axonal, type 2i 10.9 KIF1B MPZ
23 foot drop 10.9 MPZ PMP22
24 charcot-marie-tooth neuropathy type 2a 10.9 KIF1B MFN2
25 charcot-marie-tooth disease, axonal, type 2j 10.9 KIF1B MPZ
26 charcot-marie-tooth disease, demyelinating, type 1f 10.9 GJB1 MPZ PMP22
27 charcot-marie-tooth disease, demyelinating, type 1c 10.9 KIF1B MPZ PMP22
28 charcot-marie-tooth disease type 2a 10.9 KIF1B MFN2
29 charcot-marie-tooth disease type 2k 10.8 GDAP1 JPH1
30 charcot-marie-tooth disease, axonal, type 2q 10.8 EGR2 MPZ
31 roussy-levy hereditary areflexic dystasia 10.8 MPZ PMP22
32 charcot-marie-tooth disease, axonal, type 2f 10.8 GJB1 KIF1B MPZ
33 charcot-marie-tooth disease, x-linked dominant, 1 10.8 GDAP1 GJB1 MPZ
34 charcot-marie-tooth disease, axonal, type 2a1 10.8 KIF1B MFN2
35 charcot-marie-tooth neuropathy type 1 10.8 EGR2 GJB1 MPZ PMP22
36 brachial plexus neuropathy 10.7 GJB1 KIF1B PMP22
37 early-onset glaucoma 10.7 MTM1 MTMR2 SBF1 SBF2
38 centronuclear myopathy 10.7 MTM1 MTMR2 SBF1 SBF2
39 amyotrophic neuralgia 10.7 GJB1 KIF1B PMP22 PRX
40 cauda equina syndrome 10.6 EGR2 PMP22
41 neuromuscular disease 10.6 MPZ MTM1 PMP22
42 charcot-marie-tooth disease, axonal, type 2b 10.6 EGR2 GJB1 KIF1B MPZ PMP22
43 axonal neuropathy 10.5 DCAF8 GDAP1 MFN2 PMP22
44 polyneuropathy 10.5 GDAP1 MPZ PMP22
45 mononeuropathy 10.5 PMP22 SH3TC2
46 charcot-marie-tooth disease, demyelinating, type 1b 10.4 EGR2 GJB1 KIF1B MPZ MTMR2 PMP22
47 charcot-marie-tooth disease, axonal, type 2k 10.4 DYNC1H1 GDAP1 JPH1 KIF1B MFN2
48 chronic inflammatory demyelinating polyradiculoneuropathy 10.3 MPZ PMP22
49 hereditary neuropathies 10.2 GJB1 MFN2 MPZ MTMR2 NDRG1 PMP22
50 chondrosarcoma 10.2

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 motor delay 32 HP:0001270
2 areflexia 32 HP:0001284
3 abnormality of the cranial nerves 32 HP:0001291
4 neonatal hypotonia 32 HP:0001319
5 distal muscle weakness 32 HP:0002460
6 onion bulb formation 32 HP:0003383
7 decreased motor nerve conduction velocity 32 HP:0003431
8 upper limb muscle weakness 32 HP:0003484
9 distal amyotrophy 32 HP:0003693
10 peripheral hypomyelination 32 HP:0007182
11 peripheral neuropathy 32 HP:0009830

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 SH3TC2 FGD4 FIG4 MPZ PRX
4 Decreased viability GR00381-A-3 10.1 MPZ
5 Decreased viability GR00402-S-2 10.1 SBF2 SH3TC2 TFG DCAF8 DYNC1H1 EGR2
6 no effect GR00402-S-1 9.62 PRX SBF1 SBF2 SH3TC2 TFG DCAF8

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 10.33 SBF2 SH3TC2 DYNC1H1 EGR2 FGD4 FIG4
2 growth/size/body region MP:0005378 10.11 DYNC1H1 MFN2 MTM1 MTMR2 NDRG1 PMP22
3 mortality/aging MP:0010768 10.1 FIG4 GJB1 JPH1 KIF1B MFN2 MPZ
4 nervous system MP:0003631 9.83 DYNC1H1 EGR2 FGD4 FIG4 GDAP1 GJB1
5 muscle MP:0005369 9.81 DYNC1H1 FIG4 JPH1 KIF1B MFN2 MTM1
6 limbs/digits/tail MP:0005371 9.8 EGR2 FIG4 GDAP1 KIF1B MTMR2 PMP22
7 reproductive system MP:0005389 9.23 DYNC1H1 EGR2 MPZ MTM1 MTMR2 PMP22

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...

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

Articles related to Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive:

(show top 50) (show all 79)
# Title Authors Year
1
Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation. ( 26136520 )
2015
2
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. ( 25583183 )
2014
3
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
4
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. ( 22978647 )
2013
5
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position. ( 23384994 )
2013
6
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. ( 23553329 )
2013
7
Pulmonary function in patients with hereditary motor and sensory neuropathy: a comparison of patients with and without spinal deformity. ( 22727686 )
2012
8
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. ( 22883144 )
2012
9
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
10
[Molecular pathogenesis of hereditary motor and sensory neuropathy]. ( 22235654 )
2011
11
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
12
Combination of myotonic dystrophy and hereditary motor and sensory neuropathy. ( 19846120 )
2010
13
[Hereditary motor and sensory neuropathy type 4A]. ( 21322820 )
2010
14
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). ( 19536174 )
2009
15
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
16
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. ( 19541485 )
2009
17
Hereditary motor and sensory neuropathy Lom type in a Serbian family. ( 19364063 )
2008
18
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. ( 18957892 )
2008
19
Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. ( 18090092 )
2007
20
Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies). ( 16772060 )
2006
21
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. ( 16844954 )
2006
22
Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom. ( 15474366 )
2004
23
Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). ( 15083703 )
2004
24
Hereditary motor and sensory neuropathy type VI with optic atrophy. ( 14516807 )
2003
25
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. ( 12838516 )
2003
26
Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. ( 11891836 )
2002
27
Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a). ( 11796774 )
2002
28
Hereditary motor and sensory neuropathy associated with juvenile glaucoma. ( 11594963 )
2001
29
Superior mesenteric artery syndrome associated with hereditary motor and sensory neuropathy type II--a case report. ( 11842652 )
2001
30
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. ( 11703329 )
2001
31
Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings. ( 11355152 )
2001
32
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. ( 10831399 )
2000
33
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. ( 10636124 )
2000
34
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family. ( 10653194 )
2000
35
Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma. ( 10932274 )
2000
36
Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. ( 10499202 )
1999
37
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. ( 10463355 )
1999
38
Developmental hip dysplasia in hereditary motor and sensory neuropathy type 1. ( 9890296 )
1999
39
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. ( 10406984 )
1999
40
Autonomic function in patients with hereditary motor and sensory neuropathy type I and Lambert-Eaton myasthenic syndrome. ( 10499205 )
1999
41
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). ( 9521281 )
1998
42
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118. ( 9452055 )
1998
43
A new type of hereditary motor and sensory neuropathy linked to chromosome 3. ( 9189038 )
1997
44
Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family. ( 9352453 )
1997
45
Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy. A clinical and electrophysiological study. ( 9217680 )
1997
46
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy. ( 9120454 )
1997
47
Hereditary motor and sensory neuropathy mimicking hansen's disease. ( 20948037 )
1996
48
[Genetics and pathophysiology of hereditary motor and sensory neuropathy type 1]. ( 8914454 )
1996
49
A novel homozygous mutation of the myelin Po gene producing Dejerine- Sottas disease (hereditary motor and sensory neuropathy type III). ( 8630052 )
1996
50
[Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Molecular-genetic aspects]. ( 7652980 )
1995

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 2889)
# 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 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh37 Chromosome 19, 40901402: 40901402
8 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh38 Chromosome 19, 40395495: 40395495
9 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh37 Chromosome 19, 40902114: 40902114
10 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh38 Chromosome 19, 40396207: 40396207
11 NDRG1 NM_001135242.1(NDRG1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs119483085 GRCh37 Chromosome 8, 134270617: 134270617
12 NDRG1 NM_001135242.1(NDRG1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs119483085 GRCh38 Chromosome 8, 133258374: 133258374
13 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
14 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
15 MPZ NM_000530.7(MPZ): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121913593 GRCh37 Chromosome 1, 161275900: 161275900
16 MPZ NM_000530.7(MPZ): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121913593 GRCh38 Chromosome 1, 161306110: 161306110
17 MPZ MPZ, 3-BP DEL/1-BP INS, NT550 indel Pathogenic
18 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
19 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
20 EGR2 NM_000399.4(EGR2): c.803T> A (p.Ile268Asn) single nucleotide variant Pathogenic rs104894158 GRCh37 Chromosome 10, 64573595: 64573595
21 EGR2 NM_000399.4(EGR2): c.803T> A (p.Ile268Asn) single nucleotide variant Pathogenic rs104894158 GRCh38 Chromosome 10, 62813835: 62813835
22 EGR2 NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg) single nucleotide variant Pathogenic rs281865138 GRCh37 Chromosome 10, 64573252: 64573252
23 EGR2 NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg) single nucleotide variant Pathogenic rs281865138 GRCh38 Chromosome 10, 62813492: 62813492
24 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh37 Chromosome 5, 148407326: 148407326
25 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh38 Chromosome 5, 149027763: 149027763
26 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 GRCh37 Chromosome 5, 148407323: 148407323
27 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 GRCh38 Chromosome 5, 149027760: 149027760
28 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh37 Chromosome 5, 148406585: 148406585
29 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh38 Chromosome 5, 149027022: 149027022
30 EGR2 NM_000399.4(EGR2): c.1147G> T (p.Asp383Tyr) single nucleotide variant Pathogenic rs104894160 GRCh37 Chromosome 10, 64573251: 64573251
31 EGR2 NM_000399.4(EGR2): c.1147G> T (p.Asp383Tyr) single nucleotide variant Pathogenic rs104894160 GRCh38 Chromosome 10, 62813491: 62813491
32 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
33 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh38 Chromosome 14, 101986017: 101986017
34 SH3TC2 NM_024577.3(SH3TC2): c.3550A> G (p.Met1184Val) single nucleotide variant Uncertain significance rs142451273 GRCh38 Chromosome 5, 149007006: 149007006
35 SH3TC2 NM_024577.3(SH3TC2): c.3550A> G (p.Met1184Val) single nucleotide variant Uncertain significance rs142451273 GRCh37 Chromosome 5, 148386569: 148386569
36 MTMR2 NM_016156.5(MTMR2): c.810A> C (p.Leu270Phe) single nucleotide variant Uncertain significance rs587779385 GRCh38 Chromosome 11, 95849857: 95849857
37 MTMR2 NM_016156.5(MTMR2): c.810A> C (p.Leu270Phe) single nucleotide variant Uncertain significance rs587779385 GRCh37 Chromosome 11, 95583021: 95583021
38 SH3TC2 NM_024577.3(SH3TC2): c.3686A> T (p.Asp1229Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146920285 GRCh38 Chromosome 5, 149004892: 149004892
39 SH3TC2 NM_024577.3(SH3TC2): c.3686A> T (p.Asp1229Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146920285 GRCh37 Chromosome 5, 148384455: 148384455
40 SH3TC2 NM_024577.3(SH3TC2): c.2691C> G (p.Asn897Lys) single nucleotide variant Benign/Likely benign rs73795753 GRCh38 Chromosome 5, 149027041: 149027041
41 SH3TC2 NM_024577.3(SH3TC2): c.2691C> G (p.Asn897Lys) single nucleotide variant Benign/Likely benign rs73795753 GRCh37 Chromosome 5, 148406604: 148406604
42 SH3TC2 NM_024577.3(SH3TC2): c.31C> T (p.Arg11Trp) single nucleotide variant Uncertain significance rs149762843 GRCh37 Chromosome 5, 148442555: 148442555
43 SH3TC2 NM_024577.3(SH3TC2): c.31C> T (p.Arg11Trp) single nucleotide variant Uncertain significance rs149762843 GRCh38 Chromosome 5, 149062992: 149062992
44 NDRG1 NM_006096.3(NDRG1): c.331A> C (p.Met111Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2233328 GRCh37 Chromosome 8, 134271469: 134271469
45 NDRG1 NM_006096.3(NDRG1): c.331A> C (p.Met111Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2233328 GRCh38 Chromosome 8, 133259226: 133259226
46 SBF2 NM_030962.3(SBF2): c.700C> T (p.Leu234Phe) single nucleotide variant Uncertain significance rs749378136 GRCh37 Chromosome 11, 10024156: 10024156
47 SBF2 NM_030962.3(SBF2): c.700C> T (p.Leu234Phe) single nucleotide variant Uncertain significance rs749378136 GRCh38 Chromosome 11, 10002609: 10002609
48 MTMR2 NM_016156.5(MTMR2): c.14C> G (p.Ser5Trp) single nucleotide variant Uncertain significance rs778430688 GRCh38 Chromosome 11, 95923941: 95923941
49 MTMR2 NM_016156.5(MTMR2): c.14C> G (p.Ser5Trp) single nucleotide variant Uncertain significance rs778430688 GRCh37 Chromosome 11, 95657105: 95657105
50 SBF2 NM_030962.3(SBF2): c.3110G> C (p.Arg1037Pro) single nucleotide variant Uncertain significance rs748477865 GRCh38 Chromosome 11, 9845565: 9845565

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 9.8 DCAF8 DYNC1H1 EGR2 FGD4 GDAP1 GJB1
2 filopodium GO:0030175 8.8 DYNC1H1 FGD4 MTM1

Biological processes related to Neuropathy, Congenital Hypomyelinating or Amyelinating, 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 peripheral nervous system development GO:0007422 9.48 EGR2 PMP22
3 phosphatidylinositol dephosphorylation GO:0046856 9.46 MTM1 MTMR2
4 phosphatidylinositol biosynthetic process GO:0006661 9.46 FIG4 MTM1 MTMR2 SBF1
5 phosphatidylinositol metabolic process GO:0046488 9.43 FIG4 MTMR2
6 mitochondrial fusion GO:0008053 9.4 GDAP1 MFN2
7 negative regulation of myelination GO:0031642 9.32 FIG4 MTMR2
8 myelin assembly GO:0032288 9.26 FIG4 MTMR2
9 myelination GO:0042552 9.26 EGR2 MPZ PMP22 SBF2
10 peripheral nervous system myelin maintenance GO:0032287 8.8 NDRG1 PRX SH3TC2

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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