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

NINDS: ⁵² 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 roussy-levy hereditary areflexic dystasia and nerve compression syndrome. An important gene associated with Hereditary Neuropathies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural crest differentiation and Oligodendrocyte specification and differentiation, leading to myelin components for CNS. The drug Sorbitol has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and bone marrow, and related phenotypes are Increased gamma-H2AX phosphorylation and nervous system

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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 257)

#	Related Disease	Score	Top Affiliating Genes
1	roussy-levy hereditary areflexic dystasia	31.0	PMP22 MPZ
2	nerve compression syndrome	30.7	PMP22 MPZ
3	amyotrophic neuralgia	30.4	PMP22 MPZ
4	plexopathy	30.3	PMP22 MPZ MAG
5	polyradiculoneuropathy	30.3	PMP22 MPZ
6	carpal tunnel syndrome	30.3	PMP22 MPZ
7	ulnar neuropathy	30.3	PMP22 MPZ
8	motor peripheral neuropathy	30.2	PMP22 MFN2 MAG
9	chronic inflammatory demyelinating polyradiculoneuropathy	30.1	PMP22 MPZ MAG
10	peroneal neuropathy	29.9	PMP22 MPZ
11	chronic polyneuropathy	29.9	PMP22 MAG
12	charcot-marie-tooth disease, x-linked dominant, 1	29.8	PMP22 MTMR2 MPZ MFN2 GJB1
13	charcot-marie-tooth disease, axonal, type 2a1	29.8	MPZ MFN2
14	brachial plexus neuropathy	29.8	PMP22 MPZ GJB1
15	charcot-marie-tooth disease, axonal, type 2d	29.8	MPZ MFN2 GJB1
16	charcot-marie-tooth disease, type 4j	29.8	MTMR2 MPZ GJB1
17	charcot-marie-tooth disease intermediate type	29.7	MTMR2 MPZ MFN2 GJB1
18	neuropathy, hereditary motor and sensory, russe type	29.7	NDRG1 MTMR2
19	neuromyotonia and axonal neuropathy, autosomal recessive	29.7	MPZ MFN2 GJB1
20	guillain-barre syndrome	29.7	PMP22 MPZ
21	charcot-marie-tooth disease, demyelinating, type 1b	29.6	PRX PMP22 MTMR2 MPZ MFN2 GJB1
22	demyelinating polyneuropathy	29.6	PMP22 MPZ MAG GJB1
23	hereditary motor and sensory neuropathy, type iic	29.5	MTMR2 MPZ MFN2 GJB1
24	charcot-marie-tooth disease, axonal, type 2f	29.5	MTMR2 MPZ MFN2 GJB1
25	charcot-marie-tooth disease, axonal, type 2b	29.5	MTMR2 MPZ MFN2 GJB1
26	neuropathy	29.5	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
27	friedreich ataxia	29.5	MPZ MFN2 GJB1
28	charcot-marie-tooth disease, type 4a	29.5	PRX MTMR2 MPZ MFN2 GJB1
29	charcot-marie-tooth disease, type 4d	29.4	NDRG1 MTMR2 MPZ GJB1
30	asymmetric motor neuropathy	29.4	PMP22 MFN2 MAG
31	charcot-marie-tooth disease, type 4c	29.4	NDRG1 MTMR2 MPZ MFN2 GJB1
32	mononeuropathy	29.4	PMP22 MPZ MAG GJB1
33	polyneuropathy	29.4	PRX PMP22 NDRG1 MPZ MAG GJB1
34	demyelinating disease	29.3	PLP1 MPZ MAG
35	tooth disease	29.3	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
36	charcot-marie-tooth disease, demyelinating, type 1c	29.3	PRX PMP22 MTMR2 MPZ GJB1
37	charcot-marie-tooth disease, demyelinating, type 1a	29.3	PRX PMP22 MTMR2 MPZ MFN2 MAG
38	neuropathy, hereditary, with liability to pressure palsies	29.1	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
39	neuropathy, congenital hypomyelinating, 1, autosomal recessive	29.0	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
40	charcot-marie-tooth disease, axonal, type 2e	29.0	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
41	sensory peripheral neuropathy	28.9	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
42	hereditary spastic paraplegia	28.9	PLP1 MPZ MFN2 MAG GJB1
43	charcot-marie-tooth disease, type 4b2	28.8	PRX NDRG1 MTMR2 MPZ MFN2 GJB1
44	peripheral nervous system disease	28.7	PRX PMP22 MTMR2 MPZ MFN2 MAG
45	hypertrophic neuropathy of dejerine-sottas	28.6	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
46	pelizaeus-merzbacher disease	28.6	PMP22 PLP1 MPZ MAG GJB1
47	charcot-marie-tooth disease	28.3	PRX PMP22 PLP1 NDRG1 MTMR2 MPZ
48	charcot-marie-tooth disease and deafness	28.2	PRX PMP22 PLP1 NDRG1 MTMR2 MPZ
49	neuromuscular disease	27.8	PRX PMP22 NDRG1 MTMR2 MPZ MFN2
50	mononeuropathy of the median nerve, mild	11.0

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:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased gamma-H2AX phosphorylation	GR00053-A	9.17	GJB1 LMNA MAG MPZ NDRG1 PMP22

MGI Mouse Phenotypes related to Hereditary Neuropathies:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.06	GJB1 LMNA MAG MFN2 MPZ MTMR2
2	growth/size/body region	MP:0005378	9.81	GJB1 LMNA MFN2 MTMR2 NDRG1 PLP1
3	behavior/neurological	MP:0005386	9.7	GJB1 LMNA MAG MFN2 MPZ MTMR2
4	hearing/vestibular/ear	MP:0005377	9.65	LMNA MAG PLP1 PMP22 RAG1
5	mortality/aging	MP:0010768	9.28	GJB1 LMNA MFN2 MPZ MTMR2 NDRG1

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Drugs & Therapeutics for Hereditary Neuropathies

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

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Sorbitol

Approved, Investigational

Phase 2, Phase 3

69-65-8, 50-70-4

453 6251 5780

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A RandomIzed, Double-Blind, Placebo-CoNtrolled, Two-Part Study to Evaluate the Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients With SoRbitol Dehydrogenase (SORD) DEficiency	Recruiting	NCT05397665	Phase 2, Phase 3	AT-007;Placebo
2	A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A.	Completed	NCT01401257	Phase 2	PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
3	A Clinical Trial to Assess the Safety of a Novel Scaffold Biomaterial	Enrolling by invitation	NCT03584022
4	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

Organs/tissues related to Hereditary Neuropathies:

MalaCards : Spinal Cord, Skeletal Muscle, Bone Marrow, Skin, Liver, Bone, Breast

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Publications for Hereditary Neuropathies

Articles related to Hereditary Neuropathies:

(show top 50) (show all 1057)

#	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. ⁵³ ⁶²	De Toffol S...Grati FR	20187762	2010
2	Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a. ⁵³ ⁶²	Verrier JD...Notterpek L	19170179	2009
3	PMP22 expression in dermal nerve myelin from patients with CMT1A. ⁵³ ⁶²	Katona I...Li J	19447823	2009
4	Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. ⁵³ ⁶²	Bhatt A...Dhaliwal G	19238316	2009
5	Entrapment in anti myelin-associated glycoprotein neuropathy. ⁵³ ⁶²	Faber CG...Franssen H	19306083	2009
6	A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments. ⁵³ ⁶²	Court FA...Feltri ML	19321787	2009
7	A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. ⁵³ ⁶²	Moszynska I...Kochanski A	19830275	2009
8	[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. ⁵³ ⁶²	Funalot B...Vallat JM	19718987	2009
9	Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. ⁵³ ⁶²	Vallat JM...Funalot B	18957892	2008
10	Pharmacological induction of the heat shock response improves myelination in a neuropathic model. ⁵³ ⁶²	Rangaraju S...Notterpek L	18655835	2008
11	Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. ⁵³ ⁶²	Al-Thihli K...Der Kaloustian VM	18698610	2008
12	A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. ⁵³ ⁶²	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. ⁵³ ⁶²	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. ⁵³ ⁶²	Muglia M...Quattrone A	17707409	2007
15	Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. ⁵³ ⁶²	Li J...Nicholson GA	17620487	2007
16	Phenotype of Charcot-Marie-Tooth disease Type 2. ⁵³ ⁶²	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. ⁵³ ⁶²	Fortun J...Notterpek L	17174099	2007
18	Identification of Alu elements mediating a partial PMP22 deletion. ⁵³ ⁶²	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. ⁵³ ⁶²	Berger P...Suter U	16399794	2006
20	A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. ⁵³ ⁶²	Lin CY...Hsieh ST	16463004	2006
21	Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. ⁵³ ⁶²	Corrado G...Finsterer J	16449811	2006
22	Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. ⁵³ ⁶²	Hodapp JA...Bird TD	16401743	2006
23	Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. ⁵³ ⁶²	Sanahuja J...Illa I	16344349	2005
24	Recurrent polyradiculoneuropathy and PMP22 defects. ⁵³ ⁶²	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. ⁵³ ⁶²	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. ⁵³ ⁶²	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. ⁵³ ⁶²	Choi JR...Lim JB	15988805	2005
28	Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. ⁵³ ⁶²	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. ⁵³ ⁶²	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. ⁵³ ⁶²	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. ⁵³ ⁶²	Kleopa KA...Christodoulou K	15205993	2004
32	Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. ⁵³ ⁶²	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. ⁵³ ⁶²	Maier M...Suter U	14664827	2003
34	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. ⁵³ ⁶²	Marques W...Wood NW	14502374	2003
35	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. ⁵³ ⁶²	Kim SW...Jung SC	14555828	2003
36	Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases. ⁵³ ⁶²	Shames I...Snipes GJ	12901701	2003
37	Hereditary neuropathy with liability to pressure palsies in infancy. ⁵³ ⁶²	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. ⁵³ ⁶²	Lorentzos P...Nicholson GA	12885335	2003
39	Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. ⁵³ ⁶²	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. ⁵³ ⁶²	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]. ⁵³ ⁶²	Zamurovic N...Romac S	12154515	2002
42	Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. ⁵³ ⁶²	Dackovic J...Apostolski S	11784354	2001
43	Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. ⁵³ ⁶²	Hai M...Patel PI	11550219	2001
44	CNS myelination and PLP gene dosage. ⁵³ ⁶²	Woodward K...Malcolm S	11535114	2001
45	Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines. ⁵³ ⁶²	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. ⁵³ ⁶²	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. ⁵³ ⁶²	Houlden H...Reilly MM	11335693	2001
48	[Hereditary neuropathy with pressure palsies]. ⁵³ ⁶²	Gjerde IO...Vedeler C	11255855	2001
49	[Molecular genetics of hereditary neuropathies]. ⁵³ ⁶²	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. ⁵³ ⁶²	Beckmann A...Schroder JM	11045666	2000

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Genes for Hereditary Neuropathies

Genes related to Hereditary Neuropathies (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PMP22	Peripheral Myelin Protein 22	Protein Coding	19.3	Novoseek inferred ⁵³ 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	18.99	Novoseek inferred ⁵³ 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	17.71	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8800924 12207932 17502546 (more) 7706205 9187667 19718987 10541586 10586265 8845738 8862346 10737979
4	MTMR2	Myotubularin Related Protein 2	Protein Coding	10.15	Novoseek inferred ⁵³	18957892 19718987 11335693 (more) 16399794
5	PRX	Periaxin	Protein Coding	9.32	Novoseek inferred ⁵³	19321787
6	NDRG1	N-Myc Downstream Regulated 1	Protein Coding	9.02	Novoseek inferred ⁵³	15474366
7	LMNA	Lamin A/C	Protein Coding	7.43	Novoseek inferred ⁵³	18957892 19718987
8	MFN2	Mitofusin 2	Protein Coding	6.9	GeneCards inferred via : Publications (show sections)
9	MAG	Myelin Associated Glycoprotein	Protein Coding	6.34	Novoseek inferred ⁵³	19306083
10	PLP1	Proteolipid Protein 1	Protein Coding	4.86	Novoseek inferred ⁵³	7541901
11	RAG1	Recombination Activating 1	Protein Coding	4.85	Novoseek inferred ⁵³	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 ⁷⁴	11.44	PMP22 MPZ GJB1
2	Oligodendrocyte specification and differentiation, leading to myelin components for CNS ⁷⁴	10.77	PLP1 MAG
3	EGR2 and SOX10-mediated initiation of Schwann cell myelination ⁶⁶	10.7	PRX PMP22 MPZ MAG
4	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.45	PMP22 NDRG1 MTMR2 MPZ MFN2
5	Glial cell differentiation ⁷⁴	10.06	PLP1 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	compact myelin	GO:0043218	9.26	PMP22 MAG
2	myelin sheath	GO:0043209	9.1	PLP1 MPZ MAG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	peripheral nervous system myelin maintenance	GO:0032287	9.56	PRX NDRG1
2	central nervous system myelination	GO:0022010	9.5	PLP1 MAG
3	myelin assembly	GO:0032288	9.46	PMP22 MTMR2
4	axon ensheathment	GO:0008366	9.26	PRX PLP1
5	myelination	GO:0042552	9.1	PMP22 PLP1 MTMR2 MPZ MAG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:0005198	9.02	PLP1 MPZ LMNA

Sources

Sources for Hereditary Neuropathies

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HRD088 MIFTS: 37	Hereditary Neuropathies Categories: Immune diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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