MCID: AMY086
MIFTS: 30

Amyotrophy, Hereditary Neuralgic malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Amyotrophy, Hereditary Neuralgic

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NIH Rare Diseases:41 Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms.  attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.).  secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. affected members in some families may share additional distinct physical and facial characteristics. hereditary neuralgic amyotrophy can be caused by mutations in the sept9 gene.  it is inherited in an autosomal dominant fashion. last updated: 5/18/2011

MalaCards based summary: Amyotrophy, Hereditary Neuralgic, also known as hereditary neuralgic amyotrophy, is related to brachial plexus neuritis and parsonage turner syndrome, and has symptoms including hyporeflexia, autosomal dominant inheritance and narrow mouth. An important gene associated with Amyotrophy, Hereditary Neuralgic is NAPB (N-ethylmaleimide-sensitive factor attachment protein, beta). Affiliated tissues include eye, and related mouse phenotype mortality/aging.

Genetics Home Reference:21 Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.

OMIM:45 Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized... (162100) more...

Wikipedia:63 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

GeneReviews summary for hna

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

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Amyotrophy, Hereditary Neuralgic, Aliases & Descriptions:

Name: Amyotrophy, Hereditary Neuralgic 45 10 60
Hereditary Neuralgic Amyotrophy 19 41 20 21 22
Hereditary Brachial Plexus Neuropathy 19 41 21
Neuritis with Brachial Predilection 19 41 21
Brachial Plexus Neuritis 21 60
Neuralgic Amyotrophy 21 60
Brachial Neuralgia 21 60
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 41
 
Heredofamilial Neuritis with Brachial Plexus Predilection 21
Brachial Plexus Neuropathy, Hereditary 41
Familial Brachial Plexus Neuritis 21
Shoulder Girdle Neuropathy 21
Amyotrophic Neuralgia 21
Brachial Neuritis 21
Napb 21
Hna 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


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OMIM45 162100

Related Diseases for Amyotrophy, Hereditary Neuralgic

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Graphical network of the top 20 diseases related to Amyotrophy, Hereditary Neuralgic:



Diseases related to amyotrophy, hereditary neuralgic

Symptoms for Amyotrophy, Hereditary Neuralgic

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Symptoms by clinical synopsis from OMIM:

162100

Clinical features from OMIM:

162100

HPO human phenotypes related to Amyotrophy, Hereditary Neuralgic:

(show all 18)
id Description Frequency HPO Source Accession
1 hyporeflexia rare (5%) HP:0001265
2 autosomal dominant inheritance HP:0000006
3 narrow mouth HP:0000160
4 cleft palate HP:0000175
5 epicanthus HP:0000286
6 facial asymmetry HP:0000324
7 low-set ears HP:0000369
8 deeply set eye HP:0000490
9 ptosis HP:0000508
10 blepharophimosis HP:0000581
11 upslanted palpebral fissure HP:0000582
12 hypotelorism HP:0000601
13 peripheral axonal degeneration HP:0000764
14 muscle weakness HP:0001324
15 amyotrophy HP:0003202
16 short stature HP:0004322
17 depressed nasal bridge HP:0005280
18 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Amyotrophy, Hereditary Neuralgic

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Drug clinical trials:

Search ClinicalTrials for Amyotrophy, Hereditary Neuralgic

Search NIH Clinical Center for Amyotrophy, Hereditary Neuralgic

Genetic Tests for Amyotrophy, Hereditary Neuralgic

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Genetic tests related to Amyotrophy, Hereditary Neuralgic:

id Genetic test Affiliating Genes
1 Hereditary Neuralgic Amyotrophy20 22 SEPT9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

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MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

31
Eye

Animal Models for Amyotrophy, Hereditary Neuralgic or affiliated genes

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MGI Mouse Phenotypes related to Amyotrophy, Hereditary Neuralgic:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1NAPB, SEPT9

Publications for Amyotrophy, Hereditary Neuralgic

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Variations for Amyotrophy, Hereditary Neuralgic

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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophy, Hereditary Neuralgic:

62
id Symbol AA change Variation ID SNP ID
1SEPT9p.Arg106TrpVAR_033101
2SEPT9p.Ser111PheVAR_033102

Clinvar genetic disease variations for Amyotrophy, Hereditary Neuralgic:

6
id Gene Variation Type Significance SNP ID Assembly Location
19-SepNM_006640.4(SEPT9): c.262C> T (p.Arg88Trp)single nucleotide variantPathogenicrs80338761GRCh37Chr 17, 75398380: 75398380
29-SepNM_006640.4(SEPT9): c.278C> T (p.Ser93Phe)single nucleotide variantPathogenicrs80338762GRCh37Chr 17, 75398396: 75398396
39-SepNM_006640.4(SEPT9): c.-134G> Csingle nucleotide variantPathogenicrs80338760GRCh37Chr 17, 75316275: 75316275
49-SepSEPT9, 38-KB DUPduplicationPathogenic

Expression for genes affiliated with Amyotrophy, Hereditary Neuralgic

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Search GEO for disease gene expression data for Amyotrophy, Hereditary Neuralgic.

Pathways for genes affiliated with Amyotrophy, Hereditary Neuralgic

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Compounds for genes affiliated with Amyotrophy, Hereditary Neuralgic

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GO Terms for genes affiliated with Amyotrophy, Hereditary Neuralgic

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Products for genes affiliated with Amyotrophy, Hereditary Neuralgic

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Sources for Amyotrophy, Hereditary Neuralgic

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25ICD10
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