Hereditary Neuropathies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRD088 MIFTS: 37	Hereditary Neuropathies Categories: Immune diseases, Neuronal diseases
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Aliases & Classifications for Hereditary Neuropathies

MalaCards integrated aliases for Hereditary Neuropathies:

Name: Hereditary Neuropathies ⁵³

Hereditary Neuropathy ⁵⁴ ⁷¹

Neuropathy - Hereditary ⁵³

Classifications:

MalaCards categories:
Anatomical: Immune diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C0598589

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Summaries for Hereditary Neuropathies

NINDS : ⁵³ Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.

MalaCards based summary : Hereditary Neuropathies, also known as hereditary neuropathy, is related to neuropathy, hereditary, with liability to pressure palsies and foot drop. An important gene associated with Hereditary Neuropathies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural Crest Differentiation and Glial Cell Differentiation. The drugs Idebenone and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and brain, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

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Related Diseases for Hereditary Neuropathies

Diseases in the Neuropathy family:

Autoimmune Neuropathy

Hereditary Neuropathies

Diseases related to Hereditary Neuropathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 309)

#	Related Disease	Score	Top Affiliating Genes
1	neuropathy, hereditary, with liability to pressure palsies	31.5	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
2	foot drop	30.9	PMP22 MPZ
3	amyotrophic neuralgia	30.8	PMP22 MPZ
4	charcot-marie-tooth disease x-linked recessive 4	30.7	MPZ GJB1
5	roussy-levy hereditary areflexic dystasia	30.7	PMP22 MPZ
6	mononeuropathy	30.7	PMP22 MPZ MAG
7	chronic inflammatory demyelinating polyradiculoneuropathy	30.5	PMP22 MPZ MBP
8	charcot-marie-tooth disease type 2a2a	30.5	MPZ MFN2 GJB1
9	brachial plexus neuropathy	30.4	PMP22 MPZ
10	guillain-barre syndrome	30.3	PMP22 MPZ MBP
11	charcot-marie-tooth disease/hereditary motor and sensory neuropathy	30.2	PRX PMP22 MPZ MFN2 LMNA HSPB1
12	charcot-marie-tooth disease, x-linked recessive, 2	30.1	MPZ GJB1
13	neurilemmoma	30.1	PMP22 MPZ MBP
14	hereditary motor and sensory neuropathy, type iic	30.1	MPZ MFN2 GJB1
15	axonal neuropathy	30.0	PMP22 MFN2 LMNA
16	charcot-marie-tooth disease, axonal, type 2a1	30.0	MPZ MFN2
17	charcot-marie-tooth disease, dominant intermediate a	29.9	PRX MPZ GJB1
18	charcot-marie-tooth disease, recessive intermediate a	29.9	MFN2 DNAJB2
19	neuropathy	29.9	PRX PMP22 MTMR2 MPZ MFN2 LMNA
20	charcot-marie-tooth disease, type 4j	29.9	PRX MTMR2
21	charcot-marie-tooth disease, dominant intermediate e	29.9	MTMR2 MPZ
22	charcot-marie-tooth disease, axonal, type 2cc	29.8	MPZ MFN2 GJB1
23	charcot-marie-tooth disease, axonal, type 2d	29.8	MPZ MFN2 GJB1
24	charcot-marie-tooth disease, axonal, type 2b2	29.8	MPZ MFN2 DNAJB2
25	charcot-marie-tooth disease, axonal, type 2l	29.8	MPZ MFN2 HSPB1
26	chronic polyneuropathy	29.7	PMP22 MAG GJB1
27	charcot-marie-tooth disease, demyelinating, type 1f	29.7	MTMR2 MPZ GJB1
28	polyneuropathy	29.7	PRX PMP22 MPZ MFN2 MBP MAG
29	charcot-marie-tooth disease, type 4b2	29.7	PRX MTMR2 MPZ GJB1
30	charcot-marie-tooth disease, dominant intermediate b	29.7	MTMR2 MPZ GJB1
31	polyradiculoneuropathy	29.7	PMP22 MPZ MBP MAG
32	charcot-marie-tooth disease, axonal, type 2j	29.7	MTMR2 MPZ MFN2
33	charcot-marie-tooth disease, axonal, type 2i	29.7	PMP22 MPZ MFN2 GJB1
34	charcot-marie-tooth disease, axonal, type 2b	29.7	MTMR2 MPZ MFN2 GJB1
35	charcot-marie-tooth disease, type 4b1	29.7	PRX MTMR2 MPZ
36	charcot-marie-tooth disease, demyelinating, type 1b	29.6	PRX PMP22 MTMR2 MPZ MFN2 GJB1
37	charcot-marie-tooth disease, demyelinating, type 1a	29.5	PRX PMP22 MTMR2 MPZ MFN2 MAG
38	charcot-marie-tooth disease, demyelinating, type 4f	29.5	PRX MTMR2 MPZ GJB1
39	charcot-marie-tooth disease, demyelinating, type 1c	29.5	PRX PMP22 MTMR2 MPZ GJB1
40	charcot-marie-tooth disease, type 4d	29.5	NDRG1 MTMR2 MPZ GJB1
41	asymmetric motor neuropathy	29.5	PMP22 MFN2 MAG
42	charcot-marie-tooth disease, axonal, type 2b1	29.4	MFN2 LMNA DNAJB2
43	mononeuritis multiplex	29.4	PMP22 MAG
44	charcot-marie-tooth disease, type 4c	29.4	MTMR2 MPZ MFN2 KIF2B GJB1
45	charcot-marie-tooth disease, axonal, type 2q	29.3	MPZ GJB1
46	charcot-marie-tooth disease, axonal, type 2f	29.3	MTMR2 MPZ MFN2 HSPB1 GJB1
47	charcot-marie-tooth disease, demyelinating, type 1d	29.2	PRX PMP22 MTMR2 MPZ GJB1
48	charcot-marie-tooth disease, type 4h	29.2	PRX NDRG1 MTMR2 MPZ
49	motor peripheral neuropathy	29.2	PMP22 MAG GJB1 DNAJB2
50	charcot-marie-tooth disease, x-linked dominant, 1	28.9	PRX PMP22 MTMR2 MPZ MFN2 GJB1

Graphical network of the top 20 diseases related to Hereditary Neuropathies:

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Symptoms & Phenotypes for Hereditary Neuropathies

GenomeRNAi Phenotypes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased gamma-H2AX phosphorylation	GR00053-A	9.32	FBXW10 GJB1 HSPB1 LMNA MAG MBP

MGI Mouse Phenotypes related to Hereditary Neuropathies:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.1	GJB1 LMNA MAG MBP MFN2 MPZ
2	growth/size/body region	MP:0005378	10.03	GJB1 HSPB1 LMNA MBP MFN2 MPZ
3	homeostasis/metabolism	MP:0005376	9.7	GJB1 HSPB1 LMNA MAG MBP MFN2
4	hearing/vestibular/ear	MP:0005377	9.55	LMNA MBP PLP1 PMP22 RAG1
5	nervous system	MP:0003631	9.4	GJB1 LMNA MAG MBP MFN2 MPZ

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Drugs & Therapeutics for Hereditary Neuropathies

Drugs for Hereditary Neuropathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Idebenone

Approved, Investigational

Phase 1

58186-27-9

Synonyms:

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methyl-1,4-benzoquinone

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methylcyclohexa-2,5-diene-1,4-dione

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methyl-p-benzoquinone

2,3-dimethoxy-5-methyl-6-(10'-hydroxydecyl)-1,4-benzoquinone

6-(10-hydroxydecyl)-2,3-dimethoxy-5-methyl-1,4-benzoquinone

6-(10-hydroxydecyl)-2,3-dimethoxy-5-methyl-p-benzoquinone

idebenona

Idebenone

idébénone

Trace Elements

Phase 1

Micronutrients

Phase 1

Antioxidants

Phase 1

Protective Agents

Phase 1

Ubiquinone

Phase 1

Nutrients

Phase 1

4-des-dimethylaminotetracycline

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic Neuropathy	Active, not recruiting	NCT03153293	Phase 2, Phase 3	rAAV2-ND4
2	Phase I Clinical Trial to Establish the Maximum Tolerated Dose of Idebenone in Children, Adolescents, and Adults With Friedreich's Ataxia	Completed	NCT00015808	Phase 1	Idebenone
3	Phase 1B Clinical Trial to Establish the Safety and Tolerability of a Multiple-Dose Regimen of Idebenone Administered to Patients With Friedreich's Ataxia	Completed	NCT00078481	Phase 1	Idebenone
4	Transcorneal Electrical Stimulation Therapy for Retinal Disease - A Randomized, Single-blind Pilot Study	Completed	NCT00804102
5	Efficacy of Platelet Rich Plasma Injection in Diabetic Neuropathy: Double Blinded Randomized Controlled Trial	Completed	NCT03250403		PRP injection
6	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies	Completed	NCT02788734
7	Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy	Completed	NCT01847937
8	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)	Recruiting	NCT03966287
9	Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy	Recruiting	NCT03230149
10	Study of Gait and Posture in Subacute Acquired Neuropathies and in Hereditary Neuropathies	Not yet recruiting	NCT04154540

Search NIH Clinical Center for Hereditary Neuropathies

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Genetic Tests for Hereditary Neuropathies

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Anatomical Context for Hereditary Neuropathies

MalaCards organs/tissues related to Hereditary Neuropathies:

⁴⁰

Testes, Bone, Brain, Skin, Spinal Cord, Liver, Bone Marrow

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Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 960)

#	Title	Authors	PMID	Year
1	Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. ⁵⁴ ⁶¹	De Toffol S...Grati FR	20187762	2010
2	Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a. ⁵⁴ ⁶¹	Verrier JD...Notterpek L	19170179	2009
3	PMP22 expression in dermal nerve myelin from patients with CMT1A. ⁵⁴ ⁶¹	Katona I...Li J	19447823	2009
4	Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. ⁵⁴ ⁶¹	Bhatt A...Dhaliwal G	19238316	2009
5	Entrapment in anti myelin-associated glycoprotein neuropathy. ⁵⁴ ⁶¹	Faber CG...Franssen H	19306083	2009
6	A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. ⁵⁴ ⁶¹	Court FA...Feltri ML	19321787	2009
7	[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. ⁵⁴ ⁶¹	Funalot B...Vallat JM	19718987	2009
8	A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Moszynska I...Kochanski A	19830275	2009
9	Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. ⁵⁴ ⁶¹	Vallat JM...Funalot B	18957892	2008
10	Pharmacological induction of the heat shock response improves myelination in a neuropathic model. ⁵⁴ ⁶¹	Rangaraju S...Notterpek L	18655835	2008
11	Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. ⁵⁴ ⁶¹	Al-Thihli K...Der Kaloustian VM	18698610	2008
12	A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. ⁵⁴ ⁶¹	Luigetti M...Sabatelli M	18642376	2008
13	Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. ⁵⁴ ⁶¹	Celik Y...Utku U	18382985	2008
14	A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Muglia M...Quattrone A	17707409	2007
15	Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Li J...Nicholson GA	17620487	2007
16	Phenotype of Charcot-Marie-Tooth disease Type 2. ⁵⁴ ⁶¹	Bienfait HM...de Visser M	17502546	2007
17	The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones. ⁵⁴ ⁶¹	Fortun J...Notterpek L	17174099	2007
18	Identification of Alu elements mediating a partial PMP22 deletion. ⁵⁴ ⁶¹	Matejas V...Rautenstrauss B	16570190	2006
19	Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. ⁵⁴ ⁶¹	Berger P...Suter U	16399794	2006
20	Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. ⁵⁴ ⁶¹	Hodapp JA...Bird TD	16401743	2006
21	Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. ⁵⁴ ⁶¹	Corrado G...Finsterer J	16449811	2006
22	A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. ⁵⁴ ⁶¹	Lin CY...Hsieh ST	16463004	2006
23	Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. ⁵⁴ ⁶¹	Sanahuja J...Illa I	16344349	2005
24	Recurrent polyradiculoneuropathy and PMP22 defects. ⁵⁴ ⁶¹	Wang YJ...Lin KP	16323394	2005
25	Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. ⁵⁴ ⁶¹	Naimi M...Leguern E	15940694	2005
26	A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Zephir H...Vermersch P	15955700	2005
27	Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Choi JR...Lim JB	15988805	2005
28	Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. ⁵⁴ ⁶¹	Li J...Shy ME	15774502	2005
29	Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene. ⁵⁴ ⁶¹	Berghoff M...Martini R	15607947	2005
30	Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Sutton IJ...MacDonald F	15564036	2004
31	A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. ⁵⁴ ⁶¹	Kleopa KA...Christodoulou K	15205993	2004
32	Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Li J...Shy ME	14755484	2004
33	Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons. ⁵⁴ ⁶¹	Maier M...Suter U	14664827	2003
34	Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye. ⁵⁴ ⁶¹	Kim SW...Jung SC	14555828	2003
35	Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. ⁵⁴ ⁶¹	Marques W...Wood NW	14502374	2003
36	Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases. ⁵⁴ ⁶¹	Shames I...Snipes GJ	12901701	2003
37	Hereditary neuropathy with liability to pressure palsies in infancy. ⁵⁴ ⁶¹	Goikhman I...Zelnik N	12849887	2003
38	A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. ⁵⁴ ⁶¹	Lorentzos P...Nicholson GA	12885335	2003
39	Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. ⁵⁴ ⁶¹	van de Wetering RA...Mariman EC	12207933	2002
40	Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. ⁵⁴ ⁶¹	Street VA...Bird TD	12207932	2002
41	[Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. ⁵⁴ ⁶¹	Zamurovic N...Romac S	12154515	2002
42	Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. ⁵⁴ ⁶¹	Dackovic J...Apostolski S	11784354	2001
43	Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. ⁵⁴ ⁶¹	Hai M...Patel PI	11550219	2001
44	CNS myelination and PLP gene dosage. ⁵⁴ ⁶¹	Woodward K...Malcolm S	11535114	2001
45	Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines. ⁵⁴ ⁶¹	Huehne K...Rautenstrauss B	11351283	2001
46	A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. ⁵⁴ ⁶¹	Meuleman J...De Jonghe P	11369192	2001
47	Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. ⁵⁴ ⁶¹	Houlden H...Reilly MM	11335693	2001
48	[Hereditary neuropathy with pressure palsies]. ⁵⁴ ⁶¹	Gjerde IO...Vedeler C	11255855	2001
49	[Molecular genetics of hereditary neuropathies]. ⁵⁴ ⁶¹	Stogbauer F	11299480	2001
50	Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. ⁵⁴ ⁶¹	Beckmann A...Schroder JM	11045666	2000

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Genes for Hereditary Neuropathies

Genes related to Hereditary Neuropathies (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PMP22	Peripheral Myelin Protein 22	Protein Coding	21.02	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	12207933 15955700 14555828 (more) 9403478 8849012 11140948 9040736 9409359 8583222 17620487 15564036 8752424 9678509 11784354 15774502 9703447 11369192 11299480 12885335 11535114 10713355 9672419 9418989 8012388 19830275 16570190 11550219 10586265 10541586 9150743 9143558 7478198 7753126 19238316 18655835 8618572 17707409 16449811 14664827 11351283 11081809 10905899 9843070 9748013 12901701 10737979 9712007 9678704 9169527 9099841 10975746 8781657 20187762 18382985 15940694 18698610 16401743 16463004 16344349 15205993 12154515 11045666 9371959 9683317 19170179 19447823 19306083 18642376 16323394 14502374 12849887 17174099 15988805 14755484 10632107 9187667 8856651 8797209 8786387 11255855 10788748 9040737 7991107 12207932 10589461 8800924
2	MPZ	Myelin Protein Zero	Protein Coding	19.1	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	8800924 10589461 12207932 (more) 10226313 11033526 9418989 18957892 11299480 9187667 19718987 10541586 11550219 14555828 8862346 10590898 9169527 10737979 12901701
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	18.25	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	8800924 12207932 17502546 (more) 7706205 9187667 19718987 10541586 10586265 8845738 8862346 10737979
4	PRX	Periaxin	Protein Coding	16.33	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	19321787
5	MTMR2	Myotubularin Related Protein 2	Protein Coding	10.15	Novoseek inferred ⁵⁴	18957892 19718987 11335693 (more) 16399794
6	NDRG1	N-Myc Downstream Regulated 1	Protein Coding	9.02	Novoseek inferred ⁵⁴	15474366
7	CDRT1	CMT1A Duplicated Region Transcript 1	Protein Coding	7.75	GeneCards inferred via : Publications (show sections)
8	LMNA	Lamin A/C	Protein Coding	7.43	Novoseek inferred ⁵⁴	18957892 19718987
9	MBP	Myelin Basic Protein	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
10	MFN2	Mitofusin 2	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
11	DNAJB2	DnaJ Heat Shock Protein Family (Hsp40) Member B2	Protein Coding	6.81	GeneCards inferred via : Publications (show sections)
12	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	6.81	GeneCards inferred via : Publications (show sections)
13	FBXW10	F-Box And WD Repeat Domain Containing 10	Protein Coding	6.46	GeneCards inferred via : Publications (show sections)
14	KIF2B	Kinesin Family Member 2B	Protein Coding	6.46	GeneCards inferred via : Publications (show sections)
15	MAG	Myelin Associated Glycoprotein	Protein Coding	6.34	Novoseek inferred ⁵⁴	19306083
16	PLP1	Proteolipid Protein 1	Protein Coding	4.86	Novoseek inferred ⁵⁴	7541901
17	RAG1	Recombination Activating 1	Protein Coding	4.85	Novoseek inferred ⁵⁴	15607947

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Variations for Hereditary Neuropathies

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Expression for Hereditary Neuropathies

Search GEO for disease gene expression data for Hereditary Neuropathies.

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Pathways for Hereditary Neuropathies

Pathways related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neural Crest Differentiation ¹	11.27	PMP22 MPZ MBP GJB1
2	Glial Cell Differentiation ¹	9.7	PLP1 MBP MAG

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GO Terms for Hereditary Neuropathies

Cellular components related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	myelin sheath	GO:0043209	9.26	PLP1 MPZ MBP MAG
2	compact myelin	GO:0043218	8.8	PMP22 MBP MAG

Biological processes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell proliferation	GO:0008285	9.76	PMP22 NDRG1 LMNA DNAJB2
2	chemical synaptic transmission	GO:0007268	9.62	PMP22 PLP1 MPZ MBP
3	chaperone-mediated protein folding	GO:0061077	9.43	HSPB1 DNAJB2
4	response to unfolded protein	GO:0006986	9.43	MFN2 HSPB1 DNAJB2
5	central nervous system myelination	GO:0022010	9.4	PLP1 MAG
6	cell-cell adhesion via plasma-membrane adhesion molecules	GO:0098742	9.37	MPZ MAG
7	myelination	GO:0042552	9.26	PMP22 PLP1 MPZ MBP
8	myelin assembly	GO:0032288	9.16	PMP22 MTMR2
9	axon ensheathment	GO:0008366	8.8	PRX PLP1 MBP

Molecular functions related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of myelin sheath	GO:0019911	8.62	PLP1 MBP

Sources

Sources for Hereditary Neuropathies

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia