CHN
MCID: NRP015
MIFTS: 52

Neuropathy, Congenital Hypomyelinating (CHN) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating

Aliases & Descriptions for Neuropathy, Congenital Hypomyelinating:

Name: Neuropathy, Congenital Hypomyelinating 54 50 52
Charcot-Marie-Tooth Disease Type 4e 12 50 56 66 14
Cmt4e 12 50 24 56 66
Congenital Hypomyelinating Neuropathy 50 24 29 69
Neuropathy, Congenital Hypomyelinating, 1 54 12 13
Hereditary Motor and Sensory Neuropathy 12 50 29
Charcot-Marie-Tooth Neuropathy Type 4e 12 24 66
Charcot-Marie-Tooth Disease Type 4 12 50 14
Cmt4 23 50 24
Charcot-Marie-Tooth Neuropathy Type 4 23 24
Charcot Marie Tooth Disease Type 4e 50 29
Dejerine-Sottas Disease 24 69
Cmt 4e 50 24
Chn 50 66
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 54
Autosomal Recessive Congenital Hypomyelinating or Amyelinating Neuropathy 12
Autosomal Recessive Congenital Hypomyelinating Neuropathy 56
Congenital Hypomyelinating Neuropathy Autosomal Recessive 66
Congenital Hypomyelinating Neuropathy Autosomal Dominant 66
Neuropathy, Congenital Hypomyelinating or Amyelinating 66
Autosomal Recessive Demyelinating Charcot-Marie-Tooth 50
Hereditary Motor and Sensory Neuropathies 69
Hereditary Sensory Motor Neuropathy 52
Hypomyelination, Severe Congenital 50
Congenital Amyelinating Neuropathy 66
Severe Congenital Hypomyelination 66
Congenital Hypomyelination 24
Ar-Cmt1 50
Cmt 4 24
Hmsn 50

Characteristics:

Orphanet epidemiological data:

56
charcot-marie-tooth disease type 4e
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 605253
Disease Ontology 12 DOID:0050541 DOID:0110195
ICD10 33 G60.0
Orphanet 56 ORPHA99951
MESH via Orphanet 43 C535301
ICD10 via Orphanet 34 G60.0
MeSH 42 D002607

Summaries for Neuropathy, Congenital Hypomyelinating

OMIM : 54 Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal... (605253) more...

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, also known as charcot-marie-tooth disease type 4e, is related to hereditary motor and sensory neuropathy via and dejerine-sottas disease, and has symptoms including neonatal hypotonia, peripheral neuropathy and decreased motor nerve conduction velocity. An important gene associated with Neuropathy, Congenital Hypomyelinating is EGR2 (Early Growth Response 2), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Prednisolone and Lidocaine have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and mortality/aging

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 : 50 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. last updated: 3/8/2016

UniProtKB/Swiss-Prot : 66 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

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

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy via 34.4 MFN2 PMP22
2 dejerine-sottas disease 34.0 GDAP1 GJB1 KIF1B MFN2 MPZ PMP22
3 hereditary motor and sensory neuropathy v 12.5
4 hereditary motor and sensory neuropathy, okinawa type 12.4
5 hereditary motor and sensory neuropathy, type iic 12.4
6 hereditary motor and sensory neuropathy with acrodystrophy 12.3
7 charcot-marie-tooth disease 12.2
8 gdap1-related hereditary motor and sensory neuropathy 12.1
9 neuropathy, hereditary motor and sensory, russe type 12.1
10 charcot-marie-tooth disease type 4k 11.9
11 cowchock syndrome 11.5
12 charcot-marie-tooth disease, type 4a 11.4
13 charcot-marie-tooth neuropathy type 1 11.3
14 congenital hypomyelination neuropathy 11.3
15 charcot-marie-tooth disease, type 4b1 11.2
16 charcot-marie-tooth disease, type 4h 11.2
17 charcot-marie-tooth disease, type 4c 11.2
18 charcot-marie-tooth disease, type 4d 11.2
19 charcot-marie-tooth disease, type 4b2 11.2
20 charcot-marie-tooth disease, type 4f 11.2
21 charcot-marie-tooth neuropathy type 4f 11.2
22 hereditary type 2 neuropathy 10.4 MPZ PMP22
23 charcot-marie-tooth disease, type 2i 10.4 KIF1B MPZ
24 craniorachischisis 10.4 MPZ PMP22
25 charcot-marie-tooth disease, dominant intermediate d 10.4 KIF1B MPZ
26 chd7-related isolated gonadotropin-releasing hormone deficiency 10.4 HSPB8 MPZ
27 chiari malformation type 3 10.4 HSPB8 MPZ
28 hypertonia 10.4 MPZ PMP22
29 short stature, idiopathic familial 10.4 GDAP1 MTMR2 SBF2
30 surfactant metabolism dysfunction, pulmonary, 2 10.4 GJB1 MPZ PMP22
31 charles bonnet syndrome 10.4 KIF1B MFN2
32 charcot-marie-tooth disease, type 2a1 10.4 KIF1B MFN2
33 spermatogenic failure, x-linked, 2 10.4 GDAP1 GJB1 MPZ
34 cold-induced sweating syndrome including crisponi syndrome 10.4 KIF1B MFN2
35 williams-beuren syndrome 10.4 GJB1 KIF1B MPZ
36 bladder lateral wall cancer 10.3 EGR2 PMP22
37 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.3 HSPB8 KIF1B MPZ
38 yunis-varon syndrome 10.3 FIG4 GDAP1 MTMR2 SBF2
39 gnathodiaphyseal dysplasia 10.3 GDAP1 MTMR2 PRX SBF2
40 charcot-marie-tooth disease, axonal, type 2k 10.3 GDAP1 MTMR2 PRX SBF2
41 genitopatellar syndrome 10.3 EGR2 HK1 NDRG1 SH3TC2
42 deafness, autosomal dominant 8/12 10.3 GDAP1 MTMR2 PRX SBF2
43 joubert syndrome 21 10.3 DNAJB2 GDAP1
44 ednrb-related hirschsprung disease 10.3 BSCL2 REEP1
45 charcot-marie-tooth disease, type 2a2 10.3 DNAJB2 MFN2
46 acute sanguinous otitis media 10.3 GJB1 KIF1B MPZ PMP22
47 lowe syndrome 10.3 BSCL2 GJB1 HSPB8
48 phototoxic dermatitis 10.3 HSPB8 MPZ PMP22
49 chrna1-related congenital myasthenic syndrome 10.3 EGR2 GJB1 MPZ PMP22 PRX
50 ovarian stromal hyperthecosis 10.3 BSCL2 MFN2 PMP22

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



Diseases related to Neuropathy, Congenital Hypomyelinating

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating

Symptoms by clinical synopsis from OMIM:

605253

Clinical features from OMIM:

605253

Human phenotypes related to Neuropathy, Congenital Hypomyelinating:

32 (show all 11)
id 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 areflexia 32 HP:0001284
5 motor delay 32 HP:0001270
6 distal muscle weakness 32 HP:0002460
7 abnormality of the cranial nerves 32 HP:0001291
8 distal amyotrophy 32 HP:0003693
9 onion bulb formation 32 HP:0003383
10 upper limb muscle weakness 32 HP:0003484
11 peripheral hypomyelination 32 HP:0007182

UMLS symptoms related to Neuropathy, Congenital Hypomyelinating:


ataxia, sensory

MGI Mouse Phenotypes related to Neuropathy, Congenital Hypomyelinating:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 MPZ MTMR2 NDRG1 PMP22 PRX REEP1
2 mortality/aging MP:0010768 10.07 BSCL2 DYNC1H1 EGR2 FIG4 GJB1 HSPB8
3 growth/size/body region MP:0005378 10.06 BSCL2 DYNC1H1 EGR2 FIG4 GJB1 HK1
4 nervous system MP:0003631 9.86 DYNC1H1 EGR2 FGD4 FIG4 GDAP1 GJB1
5 muscle MP:0005369 9.76 NDRG1 PMP22 SH3TC2 DYNC1H1 FIG4 HSPB8
6 reproductive system MP:0005389 9.23 DYNC1H1 EGR2 HK1 MPZ MTMR2 PMP22

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating

Drugs for Neuropathy, Congenital Hypomyelinating (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 200)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
2
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
5
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
6
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
11
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
12
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
13
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
16 Prednisolone acetate Phase 4,Phase 2,Phase 3
17 Analgesics Phase 4,Phase 3,Phase 2
18 glucocorticoids Phase 4,Phase 3,Phase 2
19 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
20 Sodium Channel Blockers Phase 4,Phase 2,Phase 3
21 Neuroprotective Agents Phase 4,Phase 2,Phase 3
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Analgesics, Non-Narcotic Phase 4,Phase 2
24 Hormone Antagonists Phase 4,Phase 3,Phase 2
25 Tranquilizing Agents Phase 4,Phase 3,Phase 2
26 Anesthetics Phase 4,Phase 2,Phase 3
27 Hormones Phase 4,Phase 3,Phase 2
28 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
29 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
30 Anesthetics, Local Phase 4,Phase 2,Phase 3
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
32 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
33 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
34 Prednisolone phosphate Phase 4,Phase 2,Phase 3
35 Anticonvulsants Phase 4,Phase 3
36 Protective Agents Phase 4,Phase 2,Phase 3
37 Antiemetics Phase 4,Phase 2,Phase 3
38 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
39 Psychotropic Drugs Phase 4,Phase 3,Phase 2
40 Antimanic Agents Phase 4,Phase 3
41 Respiratory System Agents Phase 4,Phase 3
42 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
43 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
44 Autonomic Agents Phase 4,Phase 2,Phase 3
45 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
46 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
47 triamcinolone acetonide Phase 4,Phase 2,Phase 3
48 calcium channel blockers Phase 4,Phase 3
49 GABA Agents Phase 4,Phase 3
50 Cyclooxygenase Inhibitors Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 231)
id Name Status NCT ID Phase
1 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4
3 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
4 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4
5 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4
6 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
7 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4
8 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4
9 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
10 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4
11 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4
12 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4
13 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Enrolling by invitation NCT02652390 Phase 4
14 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4
15 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
16 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
17 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
18 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3
19 Sonographic Examination Cubital Tunnel Release Completed NCT02739945 Phase 3
20 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3
21 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3
22 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3
23 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3
24 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
25 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
26 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
27 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
28 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
29 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
30 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3
31 Erythropoietin Spinal Cord Compression Randomized Trial Terminated NCT00220675 Phase 2, Phase 3
32 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
33 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3
34 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3
35 Patient Outcomes With Endoscopic Versus Open Carpal Tunnel Release Unknown status NCT00880295 Phase 2
36 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2
37 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
38 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
39 Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease Completed NCT00541164 Phase 1, Phase 2
40 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2
41 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2
42 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2
43 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
44 Comparison of Effect of Anterior Subcutaneous and Submuscular Transposition on Cubital Tunnel Syndrome Completed NCT01109901 Phase 2
45 Treatment for Cubital Tunnel Syndrome Completed NCT00184158 Phase 2
46 Treatment of Thoracic Outlet Syndrome (TOS) With Botox Completed NCT00444886 Phase 2
47 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
48 Sham Device, Pill Placebo or Treatment For Arm Pain Completed NCT00029497 Phase 2
49 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2
50 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2

Search NIH Clinical Center for Neuropathy, Congenital Hypomyelinating

Genetic Tests for Neuropathy, Congenital Hypomyelinating

Genetic tests related to Neuropathy, Congenital Hypomyelinating:

id Genetic test Affiliating Genes
1 Congenital Hypomyelinating Neuropathy 29 24 MPZ
2 Charcot-Marie-Tooth Disease, Type Iv 29
3 Hereditary Motor and Sensory Neuropathy 29
4 Charcot-Marie-Tooth Neuropathy Type 4 24 SH3TC2 EGR2 FGD4 GDAP1 MTMR2 NDRG1 PRX SBF2 FIG4 HK1 MPZ
5 Charcot-Marie-Tooth Neuropathy Type 4e 24 EGR2

Anatomical Context for Neuropathy, Congenital Hypomyelinating

Publications for Neuropathy, Congenital Hypomyelinating

Variations for Neuropathy, Congenital Hypomyelinating

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

66
id 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:

6 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
2 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh37 Chromosome 19, 40901402: 40901402
3 PRX NM_181882.2(PRX): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs104894706 GRCh37 Chromosome 19, 40903673: 40903673
4 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh37 Chromosome 19, 40902114: 40902114
5 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh37 Chromosome 19, 40901051: 40901051
6 PRX PRX, 10-BP INS, NT394 insertion Pathogenic
7 PRX PRX, 4-BP DEL, 1194TTCC deletion Pathogenic
8 NDRG1 NM_001135242.1(NDRG1): c.442C> T (p.Arg148Ter) single nucleotide variant Pathogenic rs119483085 GRCh37 Chromosome 8, 134270617: 134270617
9 PMP22 NM_000304.3(PMP22): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs104894621 GRCh37 Chromosome 17, 15142892: 15142892
10 GJB1 NM_000166.5(GJB1): c.407T> C (p.Val136Ala) single nucleotide variant Pathogenic rs104894826 GRCh37 Chromosome X, 70443964: 70443964
11 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
12 MPZ NM_000530.7(MPZ): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121913593 GRCh37 Chromosome 1, 161275900: 161275900
13 MPZ MPZ, 3-BP DEL/1-BP INS, NT550 indel Pathogenic
14 MPZ NM_000530.7(MPZ): c.371C> A (p.Thr124Lys) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
15 EGR2 NM_000399.4(EGR2): c.803T> A (p.Ile268Asn) single nucleotide variant Pathogenic rs104894158 GRCh37 Chromosome 10, 64573595: 64573595
16 EGR2 NM_000399.4(EGR2): c.1146T> G (p.Ser382Arg) single nucleotide variant Pathogenic rs281865138 GRCh37 Chromosome 10, 64573252: 64573252
17 EGR2 NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp) single nucleotide variant Pathogenic rs104894161 GRCh37 Chromosome 10, 64573323: 64573323
18 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh37 Chromosome 5, 148407326: 148407326
19 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh37 Chromosome 5, 148406585: 148406585
20 EGR2 NM_000399.4(EGR2): c.1147G> T (p.Asp383Tyr) single nucleotide variant Pathogenic rs104894160 GRCh37 Chromosome 10, 64573251: 64573251
21 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
22 SH3TC2 NM_024577.3(SH3TC2): c.1662delC (p.Ile555Serfs) deletion Pathogenic rs863224520 GRCh38 Chromosome 5, 149028070: 149028070
23 SH3TC2 NM_024577.3(SH3TC2): c.279G> A (p.Lys93=) single nucleotide variant Pathogenic rs776221160 GRCh38 Chromosome 5, 149047862: 149047862
24 MTMR2 NM_016156.5(MTMR2): c.1034delA (p.Asn345Metfs) deletion Pathogenic rs863224516 GRCh38 Chromosome 11, 95847859: 95847859
25 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
26 PRX NM_181882.2(PRX): c.2787delC (p.Lys930Serfs) deletion Pathogenic rs754521978 GRCh38 Chromosome 19, 40395565: 40395565
27 SH3TC2 NM_024577.3(SH3TC2): c.3303delG (p.Arg1101Serfs) deletion Pathogenic rs864622664 GRCh38 Chromosome 5, 149010294: 149010294
28 SH3TC2 NM_024577.3(SH3TC2): c.3154C> T (p.Arg1052Ter) single nucleotide variant Pathogenic rs370115218 GRCh37 Chromosome 5, 148392197: 148392197
29 SH3TC2 NM_024577.3(SH3TC2): c.211C> T (p.Gln71Ter) single nucleotide variant Pathogenic rs864622663 GRCh38 Chromosome 5, 149047930: 149047930
30 SH3TC2 NM_024577.3(SH3TC2): c.2072_2090del19 (p.Ala691Valfs) deletion Pathogenic rs878855092 GRCh38 Chromosome 5, 149027642: 149027660
31 MTMR2 NM_016156.5(MTMR2): c.832C> T (p.Gln278Ter) single nucleotide variant Pathogenic rs757563721 GRCh38 Chromosome 11, 95849835: 95849835
32 MPZ NC_000001.10: g.(161255241_?)_(?_161276497)del copy number loss Pathogenic GRCh37 Chromosome 1, 161255241: 161276497
33 SH3TC2 NM_024577.3(SH3TC2): c.2642A> G (p.Asn881Ser) single nucleotide variant Pathogenic rs80338930 GRCh37 Chromosome 5, 148406653: 148406653
34 SH3TC2 NC_000005.10: g.(?_149062971)_(149063174_?)del deletion Pathogenic GRCh38 Chromosome 5, 149062971: 149063174
35 SBF2 NC_000011.10: g.(?_10193902)_(10193987_?)del deletion Pathogenic GRCh38 Chromosome 11, 10193902: 10193987
36 MTMR2 NM_016156.5(MTMR2): c.1537_1538dupTA (p.Ser514Thrfs) duplication Pathogenic GRCh38 Chromosome 11, 95838149: 95838150
37 SBF2 NM_030962.3(SBF2): c.2536+1G> A single nucleotide variant Pathogenic rs1060500001 GRCh38 Chromosome 11, 9853539: 9853539
38 FGD4 NM_139241.3(FGD4): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs778377449 GRCh38 Chromosome 12, 32625747: 32625747

Expression for Neuropathy, Congenital Hypomyelinating

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

Pathways for Neuropathy, Congenital Hypomyelinating

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

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

GO Terms for Neuropathy, Congenital Hypomyelinating

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.83 BSCL2 DNAJB2 DYNC1H1 FIG4 GDAP1 GJB1
2 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

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

id Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 9.4 EGR2 PMP22
2 phosphatidylinositol metabolic process GO:0046488 9.37 FIG4 MTMR2
3 mitochondrial fusion GO:0008053 9.32 GDAP1 MFN2
4 peripheral nervous system myelin maintenance GO:0032287 9.26 NDRG1 SH3TC2
5 negative regulation of myelination GO:0031642 9.16 FIG4 MTMR2
6 myelin assembly GO:0032288 8.96 FIG4 MTMR2
7 myelination GO:0042552 8.92 EGR2 MPZ PMP22 SBF2

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

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

Sources for Neuropathy, Congenital Hypomyelinating

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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