Neuropathy, Congenital Hypomyelinating, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CHN2 MCID: NRP064 MIFTS: 32	Neuropathy, Congenital Hypomyelinating, 2 (CHN2) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 2

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 2:

Name: Neuropathy, Congenital Hypomyelinating, 2 ⁵⁷ ⁷⁴

Hypomyelinating Neuropathy, Congenital, 2 ⁵⁷ ⁷⁴

Congenital Hypomyelinating Neuropathy 2 ²⁹ ⁶

Chn2 ⁵⁷ ⁷⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset at birth or in utero

HPO:

³²

neuropathy, congenital hypomyelinating, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618184 PS605253

MeSH ⁴⁴ D015417

MedGen ⁴² C4722277 CN257483

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Summaries for Neuropathy, Congenital Hypomyelinating, 2

OMIM : ⁵⁷ Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996). CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008). For a discussion of genetic heterogeneity of CHN, see CHN1 (605253). (618184)

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 2, also known as hypomyelinating neuropathy, congenital, 2, is related to schizophrenia and kuru. An important gene associated with Neuropathy, Congenital Hypomyelinating, 2 is MPZ (Myelin Protein Zero). Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are scoliosis and respiratory insufficiency due to muscle weakness

UniProtKB/Swiss-Prot : ⁷⁴ Neuropathy, congenital hypomyelinating, 2: A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant.

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Related Diseases for Neuropathy, Congenital Hypomyelinating, 2

Diseases in the Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive family:

Neuropathy, Congenital Hypomyelinating, 2

Neuropathy, Congenital Hypomyelinating, 3

Diseases related to Neuropathy, Congenital Hypomyelinating, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	schizophrenia	11.4
2	kuru	11.4
3	hepatosplenic t-cell lymphoma	11.4
4	diabetes mellitus, noninsulin-dependent	10.2
5	severe combined immunodeficiency	10.2
6	substance dependence	10.2

Graphical network of the top 20 diseases related to Neuropathy, Congenital Hypomyelinating, 2:

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Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 2

Human phenotypes related to Neuropathy, Congenital Hypomyelinating, 2:

³² (show all 14)

#	Description	HPO Source Accession
1	scoliosis ³²	HP:0002650
2	respiratory insufficiency due to muscle weakness ³²	HP:0002747
3	skeletal muscle atrophy ³²	HP:0003202
4	areflexia ³²	HP:0001284
5	abnormality of the foot ³²	HP:0001760
6	inability to walk ³²	HP:0002540
7	decreased motor nerve conduction velocity ³²	HP:0003431
8	decreased fetal movement ³²	HP:0001558
9	hyporeflexia ³²	HP:0001265
10	severe muscular hypotonia ³²	HP:0006829
11	hypokinesia ³²	HP:0002375
12	facial diplegia ³²	HP:0001349
13	poor head control ³²	HP:0002421
14	delayed ability to walk ³²	HP:0031936

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased motor nerve conduction velocities, severe (less than 10 m/s)
absent sensory conduction
little or no compact myelin seen on sural nerve biopsy
more

Muscle Soft Tissue:
hypokinesia
muscle atrophy
hypotonia, severe
poor fiber type differentiation caused by abnormal innervation seen on muscle biopsy

Skeletal Feet:
foot deformities

Abdomen Gastrointestinal:
poor swallowing due to muscle weakness

Skeletal Hands:
arthrogryposis of the hands

Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Central Nervous System:
inability to walk
poor head control
delayed walking
delayed motor development, severe

Head And Neck Face:
facial diplegia

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal:
contractures, distal (in some patients)

Clinical features from OMIM:

618184

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Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 2

Search Clinical Trials , NIH Clinical Center for Neuropathy, Congenital Hypomyelinating, 2

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Genetic Tests for Neuropathy, Congenital Hypomyelinating, 2

Genetic tests related to Neuropathy, Congenital Hypomyelinating, 2:

#	Genetic test	Affiliating Genes
1	Congenital Hypomyelinating Neuropathy 2 ²⁹	MPZ

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Anatomical Context for Neuropathy, Congenital Hypomyelinating, 2

MalaCards organs/tissues related to Neuropathy, Congenital Hypomyelinating, 2:

⁴¹

Liver, Skeletal Muscle, Brain, Kidney, Breast, Bone, T Cells

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Publications for Neuropathy, Congenital Hypomyelinating, 2

Articles related to Neuropathy, Congenital Hypomyelinating, 2:

(show top 50) (show all 152)

#	Title	Authors	PMID	Year
1	Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family. ⁸ ⁷¹	Smit LS...van Doorn PA	17825553	2008
2	A novel MPZ gene mutation in congenital neuropathy with hypomyelination. ⁸ ⁷¹	Kochanski A...Hausmanowa-Petrusewicz I	15184631	2004
3	Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. ⁸ ⁷¹	Szigeti K...Lupski JR	12953275	2003
4	Congenital hypomyelination due to myelin protein zero Q215X mutation. ⁸	Mandich P...Schenone A	10319895	1999
5	Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. ⁸	Warner LE...Lupski JR	8816708	1996
6	Efficacy and Safety of Dulaglutide Versus Insulin Glargine in Chinese T2DM Patients: A Subgroup Analysis of a Randomized Trial (AWARD-CHN2). ³⁸	Li Y...Ji QH	31228090	2019
7	CHN2 Promoter Methylation Change May Be Associated With Methamphetamine Dependence. ³⁸	Hao L...Hao W	29719347	2017
8	Subtype-Specific Genes that Characterize Subpopulations of Callosal Projection Neurons in Mouse Identify Molecularly Homologous Populations in Macaque Cortex. ³⁸	Fame RM...Macklis JD	26874185	2017
9	Maternal BMI as a predictor of methylation of obesity-related genes in saliva samples from preschool-age Hispanic children at-risk for obesity. ³⁸	Oelsner KT...Barkin SL	28068899	2017
10	Multi-electron redox processes at a Zr(iv) center facilitated by an appended redox-active cobalt-containing metalloligand. ³⁸	Krogman JP...Thomas CM	27326824	2016
11	The synthesis, structure and reactivity of an imine-stabilized carboranylphosphorus(i) compound. ³⁸	Chan TL...Xie Z	27180610	2016
12	Genome-Wide Interaction with Insulin Secretion Loci Reveals Novel Loci for Type 2 Diabetes in African Americans. ³⁸	Keaton JM...Bowden DW	27448167	2016
13	Genome-wide analysis of DNA methylation in subjects with type 1 diabetes identifies epigenetic modifications associated with proliferative diabetic retinopathy. ³⁸	Agardh E...Ling C	26248552	2015
14	Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility. ³⁸	Alvi MA...Salto-Tellez M	26315110	2015
15	High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate. ³⁸	Szczaluba K...Bocian E	25613075	2015
16	Chimerin 2 genetic polymorphisms are associated with non-proliferative diabetic retinopathy in Taiwanese type 2 diabetic patients. ³⁸	Chen M...Tsai FJ	24854763	2014
17	Genome characterization of sugarcane yellow leaf virus from China reveals a novel recombinant genotype. ³⁸	Lin YH...Mirkov TE	24395076	2014
18	Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study. ³⁸	Adams JN...Bowden DW	24725463	2014
19	Generation of C(2)F(5)CHN(2) in situ and its first reaction: [3+2] cycloaddition with alkenes. ³⁸	Mykhailiuk PK	24700600	2014
20	Influence of model grid resolution on NO2 vertical column densities over East Asia. ³⁸	Yamaji K...Ohara T	24843914	2014
21	Genome-wide association and pharmacological profiling of 29 anticancer agents using lymphoblastoid cell lines. ³⁸	Brown CC...Motsinger-Reif AA	24444404	2014
22	Evaluation of candidate nephropathy susceptibility genes in a genome-wide association study of African American diabetic kidney disease. ³⁸	Palmer ND...Bowden DW	24551085	2014
23	Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma. ³⁸	Finalet Ferreiro J...Wlodarska I	25057852	2014
24	β3-chimaerin, a novel member of the chimaerin Rac-GAP family. ³⁸	Zubeldia-Brenner L...Leskow FC	24430297	2014
25	Association of a novel polymorphism of the β2-chimaerin gene (CHN2) with smoking. ³⁸	Barrio-Real L...Caloca MJ	23941981	2013
26	Genome-wide association study of atypical psychosis. ³⁸	Kanazawa T...Yoneda H	24132900	2013
27	Over-expression of the miRNA cluster at chromosome 14q32 in the alcoholic brain correlates with suppression of predicted target mRNA required for oligodendrocyte proliferation. ³⁸	Manzardo AM...Butler MG	23747354	2013
28	Cysteine proteinase inhibitors regulate human and mouse osteoclastogenesis by interfering with RANK signaling. ³⁸	Stralberg F...Lerner UH	23572233	2013
29	Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. ³⁸	Mead S...Collinge J	22210626	2012
30	CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients. ³⁸	Hu C...Jia W	21911749	2011
31	Genetic associations in diabetic nephropathy: a meta-analysis. ³⁸	Mooyaart AL...Baelde HJ	21127830	2011
32	Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. ³⁸	Maeda S...Nakamura Y	20460425	2010
33	Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. ³⁸	Suliman SG...Gloyn AL	19720790	2009
34	Characterization of cysteine proteases from the carcinogenic liver fluke, Opisthorchis viverrini. ³⁸	Kaewpitoon N...Sripa B	18092178	2008
35	Comparison of cysteine peptidase activities in Trichobilharzia regenti and Schistosoma mansoni cercariae. ³⁸	Kasny M...Horak P	17517170	2007
36	The cysteine proteinase inhibitor Z-Phe-Ala-CHN2 alters cell morphology and cell division activity of Trypanosoma brucei bloodstream forms in vivo. ³⁸	Scory S...Steverding D	17328798	2007
37	The crystal structure of human dipeptidyl peptidase I (cathepsin C) in complex with the inhibitor Gly-Phe-CHN2. ³⁸	Molgaard A...Pedersen J	17020538	2007
38	Labelling of four distinct trophozoite falcipains of Plasmodium falciparum by a cystatin-derived probe. ³⁸	Florent I...Lalmanach G	15899703	2005
39	Characterization of human ARHGAP10 gene in silico. ³⁸	Katoh M...Katoh M	15375573	2004
40	Osteoclastogenesis is decreased by cysteine proteinase inhibitors. ³⁸	Brage M...Lerner UH	15003789	2004
41	Molecular and enzymatic properties of a cathepsin L-like proteinase with distinct substrate specificity from northern shrimp (Pandalus borealis). ³⁸	Aoki H...Watabe S	14574613	2004
42	Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progression. ³⁸	Nishiu M...Aozasa K	12716467	2002
43	Peptidyl diazomethyl ketones inhibit the human rhinovirus 3C protease: effect on virus yield by partial block of P3 polyprotein processing. ³⁸	Murray MA...Babe LM	11900346	2001
44	Dipeptide vinyl sulfones suitable for intracellular inhibition of dipeptidyl peptidase I. ³⁸	Korver GE...Hudig D	11367515	2001
45	Altered expression of cruzipain and a cathepsin B-like target in a Trypanosoma cruzi cell line displaying resistance to synthetic inhibitors of cysteine-proteinases. ³⁸	Yong V...Scharfstein J	10924756	2000
46	Trypanosoma brucei: killing of bloodstream forms in vitro and in vivo by the cysteine proteinase inhibitor Z-phe-ala-CHN2. ³⁸	Scory S...Steverding D	10092476	1999
47	Dipeptidyl peptidase I and III activities of adult schistosomes. ³⁸	Hola-Jamriska L...Brindley PJ	10205803	1999
48	Calpain mediates ischemic injury of the liver through modulation of apoptosis and necrosis. ³⁸	Kohli V...Clavien PA	9869615	1999
49	Cysteine proteinase plays a key role for the initiation of yolk digestion during development of Xenopus laevis. ³⁸	Yoshizaki N...Yonezawa S	9865976	1998
50	m-Calpain subunits remain associated in the presence of calcium. ³⁸	Dutt P...Elce JS	9801150	1998

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Genes for Neuropathy, Congenital Hypomyelinating, 2

Genes related to Neuropathy, Congenital Hypomyelinating, 2 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MPZ	Myelin Protein Zero	Protein Coding	1327.11	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	12953275 15184631
2	RHO	Rhodopsin	Protein Coding	400	Pathogenic ⁶	17825553

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Variations for Neuropathy, Congenital Hypomyelinating, 2

ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	MPZ	MPZ, 3-BP DEL/1-BP INS, NT550	indel	Pathogenic
2	MPZ	NM_000530.8(MPZ): c.371C> A (p.Thr124Lys)	single nucleotide variant	Pathogenic	rs121913595	1:161276575-161276575	1:161306785-161306785
3	RHO	NM_000539.3(RHO): c.549dup (p.Gln184fs)	duplication	Pathogenic		3:129251112-129251112	3:129532269-129532269
4	MPZ	NM_000530.8(MPZ): c.637G> A (p.Gly213Arg)	single nucleotide variant	Uncertain significance		1:161275906-161275906	1:161306116-161306116

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	MPZ	p.Thr124Lys	VAR_029978	rs121913595

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Expression for Neuropathy, Congenital Hypomyelinating, 2

Search GEO for disease gene expression data for Neuropathy, Congenital Hypomyelinating, 2.

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Pathways for Neuropathy, Congenital Hypomyelinating, 2

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GO Terms for Neuropathy, Congenital Hypomyelinating, 2

Cellular components related to Neuropathy, Congenital Hypomyelinating, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of plasma membrane	GO:0005887	8.62	RHO MPZ

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Sources for Neuropathy, Congenital Hypomyelinating, 2

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Neuropathy, Congenital Hypomyelinating, 2 (CHN2)

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 2

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neuropathy, Congenital Hypomyelinating, 2

Related Diseases for Neuropathy, Congenital Hypomyelinating, 2

Diseases in the Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive family:

Diseases related to Neuropathy, Congenital Hypomyelinating, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Neuropathy, Congenital Hypomyelinating, 2:

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 2

Human phenotypes related to Neuropathy, Congenital Hypomyelinating, 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 2

Genetic Tests for Neuropathy, Congenital Hypomyelinating, 2

Genetic tests related to Neuropathy, Congenital Hypomyelinating, 2:

Anatomical Context for Neuropathy, Congenital Hypomyelinating, 2

MalaCards organs/tissues related to Neuropathy, Congenital Hypomyelinating, 2:

Publications for Neuropathy, Congenital Hypomyelinating, 2

Articles related to Neuropathy, Congenital Hypomyelinating, 2:

Genes for Neuropathy, Congenital Hypomyelinating, 2

Genes related to Neuropathy, Congenital Hypomyelinating, 2 (2 elite genes):

Variations for Neuropathy, Congenital Hypomyelinating, 2

ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

Expression for Neuropathy, Congenital Hypomyelinating, 2

Pathways for Neuropathy, Congenital Hypomyelinating, 2

GO Terms for Neuropathy, Congenital Hypomyelinating, 2

Cellular components related to Neuropathy, Congenital Hypomyelinating, 2 according to GeneCards Suite gene sharing:

Sources for Neuropathy, Congenital Hypomyelinating, 2