Neuronopathy, Distal Hereditary Motor, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type I

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type I:

Name: Neuronopathy, Distal Hereditary Motor, Type I ⁵⁶ ²⁹ ¹³ ⁴³ ⁷¹

Dhmn1 ⁵⁶ ¹² ⁵⁸

Autosomal Dominant Distal Juvenile Spinal Muscular Atrophy Type 1 ¹² ⁵⁸

Distal Hereditary Motor Neuronopathy Type 1 ¹² ¹⁵

Hmn I ⁵⁶ ¹²

Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I ⁵⁶

Neuropathy, Distal Hereditary Motor, Type I; Dhmn1 ⁵⁶

Neuropathy, Motor, Distal, Hereditary, Type I ³⁹

Neuropathy, Distal Hereditary Motor, Type I ⁵⁶

Distal Hereditary Motor Neuropathy Type I ¹²

Distal Hereditary Motor Neuropathy Type 1 ⁵⁸

Charcot-Marie-Tooth Disease, Spinal, I ⁵⁶

Spinal Charcot-Marie-Tooth Disease 1 ¹²

Hmn1 ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

distal hereditary motor neuropathy type 1
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset usually in first or second decade (mean 10 years)
adult onset rarely reported

HPO:

³¹

neuronopathy, distal hereditary motor, type i:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0111200

OMIM ⁵⁶ 182960

MeSH ⁴³ C566675

NCIt ⁴⁹ C132826

ICD10 via Orphanet ³³ G12.2

UMLS via Orphanet ⁷² C1866784

Orphanet ⁵⁸ ORPHA139518

MedGen ⁴¹ C1866784

SNOMED-CT via HPO ⁶⁸ 122481008 205091006 246586009 more

UMLS ⁷¹ C1866784

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Summaries for Neuronopathy, Distal Hereditary Motor, Type I

OMIM : ⁵⁶ Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). (182960)

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type I, also known as dhmn1, is related to neuromyotonia and axonal neuropathy, autosomal recessive and neuronopathy, distal hereditary motor, type viia. An important gene associated with Neuronopathy, Distal Hereditary Motor, Type I is RNF32 (Ring Finger Protein 32). Related phenotypes are hypertonia and pes cavus

Disease Ontology : ¹² An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has material basis in heterozygous mutation in locus in the 7q34-q36 chromosome region.

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Related Diseases for Neuronopathy, Distal Hereditary Motor, Type I

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia	Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I	Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va	Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib	Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb	Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix	Autosomal Recessive Distal Hereditary Motor Neuronopathy
Distal Hereditary Motor Neuronopathy Type 7	Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Neuronopathy, Distal Hereditary Motor, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 14, show less)

#	Related Disease	Score	Top Affiliating Genes
1	neuromyotonia and axonal neuropathy, autosomal recessive	11.2
2	neuronopathy, distal hereditary motor, type viia	11.2
3	spinal muscular atrophy, distal, autosomal recessive, 2	11.2
4	spinal muscular atrophy, distal, autosomal recessive, 3	11.2
5	neuropathy, hereditary, with or without age-related macular degeneration	11.2
6	neuronopathy, distal hereditary motor, type vb	11.2
7	spinal muscular atrophy, distal, autosomal recessive, 5	11.2
8	neuronopathy, distal hereditary motor, type iid	11.2
9	neuronopathy, distal hereditary motor, type ix	11.2
10	distal hereditary motor neuropathies	10.3
11	acheiropody	9.9	RNF32 NOM1
12	muscular dystrophy, limb-girdle, autosomal dominant 1	9.6	UBE3C RNF32
13	autosomal dominant distal hereditary motor neuronopathy	8.4	UBE3C RNF32 NOM1 LINC01287 LINC01006 ARHGAP39
14	charcot-marie-tooth disease, x-linked recessive, 3	8.2	RNF32 NOM1 LINC01287 LINC01006 ARHGAP39 ACTR3B

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type I:

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Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type I

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type I:

³¹ (showing 9, show less)

#	Description	HPO Source Accession
1	hypertonia ³¹	HP:0001276
2	pes cavus ³¹	HP:0001761
3	babinski sign ³¹	HP:0003487
4	distal amyotrophy ³¹	HP:0003693
5	hammertoe ³¹	HP:0001765
6	distal muscle weakness ³¹	HP:0002460
7	upper limb muscle weakness ³¹	HP:0003484
8	chronic axonal neuropathy ³¹	HP:0007267
9	impaired vibration sensation at ankles ³¹	HP:0006938

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Feet:
pes cavus
hammertoes

Muscle Soft Tissue:
increased muscle tone
distal limb muscle weakness and atrophy
upper limb involvement may occur later

Neurologic Central Nervous System:
extensor plantar responses
increased muscle tone

Neurologic Peripheral Nervous System:
decreased vibration sense in the feet
sural nerve biopsy shows chronic axonal neuropathy

Clinical features from OMIM:

182960

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Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type I

Search Clinical Trials , NIH Clinical Center for Neuronopathy, Distal Hereditary Motor, Type I

Cochrane evidence based reviews: neuronopathy, distal hereditary motor, type i

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Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type I

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type I:

#	Genetic test	Affiliating Genes
1	Neuronopathy, Distal Hereditary Motor, Type I ²⁹

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Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type I

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Publications for Neuronopathy, Distal Hereditary Motor, Type I

Articles related to Neuronopathy, Distal Hereditary Motor, Type I:

(showing 9, show less)

#	Title	Authors	PMID	Year
1	A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. ⁵⁶	Gopinath S...Nicholson GA	17354000	2007
2	Unraveling the genetics of distal hereditary motor neuronopathies. ⁵⁶	Irobi J...Timmerman V	16775372	2006
3	DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). ⁵⁶	Chen YZ...Chance PF	15106121	2004
4	Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? ⁵⁶	De Jonghe P...Timmerman V	12023320	2002
5	Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. ⁵⁶	Harding AE...Thomas PK	7365507	1980
6	The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. ⁵⁶	Davis CJ...Madrid R	752065	1978
7	Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. ⁶¹	Cutrupi AN...Kennerson ML	29573232	2018
8	A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. ⁶¹	Drew AP...Kennerson ML	27487800	2016
9	Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. ⁶¹	Nicholson G...Shy M	20225027	2009

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Genes for Neuronopathy, Distal Hereditary Motor, Type I

Genes related to Neuronopathy, Distal Hereditary Motor, Type I (0 elite genes):

(showing 8, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RNF32	Ring Finger Protein 32	Protein Coding	7.89	DISEASES inferred ¹⁵
2	NOM1	Nucleolar Protein With MIF4G Domain 1	Protein Coding	7.42	DISEASES inferred ¹⁵
3	LINC01287	Long Intergenic Non-Protein Coding RNA 1287	RNA Gene	7.24	DISEASES inferred ¹⁵
4	LINC01006	Long Intergenic Non-Protein Coding RNA 1006	RNA Gene	7.2	DISEASES inferred ¹⁵
5	UBE3C	Ubiquitin Protein Ligase E3C	Protein Coding	7.16	DISEASES inferred ¹⁵
6	ARHGAP39	Rho GTPase Activating Protein 39	Protein Coding	6.89	DISEASES inferred ¹⁵
7	ACTR3B	Actin Related Protein 3B	Protein Coding	6.67	DISEASES inferred ¹⁵
8	MNX1-AS1	MNX1 Antisense RNA 1 (Head To Head)	RNA Gene	6.61	DISEASES inferred ¹⁵

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Variations for Neuronopathy, Distal Hereditary Motor, Type I

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Expression for Neuronopathy, Distal Hereditary Motor, Type I

Search GEO for disease gene expression data for Neuronopathy, Distal Hereditary Motor, Type I.

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Pathways for Neuronopathy, Distal Hereditary Motor, Type I

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GO Terms for Neuronopathy, Distal Hereditary Motor, Type I

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Neuronopathy, Distal Hereditary Motor, Type I (HMN1)

Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type I

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type I:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Neuronopathy, Distal Hereditary Motor, Type I

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type I

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Diseases related to Neuronopathy, Distal Hereditary Motor, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type I:

Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type I

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type I:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type I

Cochrane evidence based reviews: neuronopathy, distal hereditary motor, type i

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type I

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type I:

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type I

Publications for Neuronopathy, Distal Hereditary Motor, Type I

Articles related to Neuronopathy, Distal Hereditary Motor, Type I:

Genes for Neuronopathy, Distal Hereditary Motor, Type I

Genes related to Neuronopathy, Distal Hereditary Motor, Type I (0 elite genes):

Variations for Neuronopathy, Distal Hereditary Motor, Type I

Expression for Neuronopathy, Distal Hereditary Motor, Type I

Pathways for Neuronopathy, Distal Hereditary Motor, Type I

GO Terms for Neuronopathy, Distal Hereditary Motor, Type I

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