MCID: AMY086
MIFTS: 33

Amyotrophy, Hereditary Neuralgic malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

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Aliases & Descriptions for Amyotrophy, Hereditary Neuralgic:

Name: Amyotrophy, Hereditary Neuralgic 49 11 65
Hereditary Neuralgic Amyotrophy 21 45 22 23 24 67
Neuritis with Brachial Predilection 21 45 22 23 67
Hereditary Brachial Plexus Neuropathy 21 45 23 67
Hna 22 23 67
Brachial Plexus Neuropathy, Hereditary 45 22
Brachial Plexus Neuritis 23 65
Neuralgic Amyotrophy 23 65
Brachial Neuralgia 23 65
 
Napb 23 67
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 45
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 67
Heredofamilial Neuritis with Brachial Plexus Predilection 23
Familial Brachial Plexus Neuritis 23
Shoulder Girdle Neuropathy 23
Amyotrophic Neuralgia 23
Brachial Neuritis 23


Classifications:



External Ids:

OMIM49 162100
MedGen34 C1834304

Summaries for Amyotrophy, Hereditary Neuralgic

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NIH Rare Diseases:45 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 neuritis, and has symptoms including polyneuropathy, muscle weakness and arthralgia. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPT9 (Septin 9), and among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. Affiliated tissues include skeletal muscle and eye.

Genetics Home Reference:23 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:49 Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized... (162100) more...

UniProtKB/Swiss-Prot:67 Hereditary neuralgic amyotrophy: Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition.

Wikipedia:68 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

GeneReviews summary for hna

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 33)
id Description Frequency HPO Source Accession
1 polyneuropathy hallmark (90%) HP:0001271
2 muscle weakness hallmark (90%) HP:0001324
3 arthralgia hallmark (90%) HP:0002829
4 emg abnormality hallmark (90%) HP:0003457
5 sprengel anomaly typical (50%) HP:0000912
6 paresthesia typical (50%) HP:0003401
7 narrow mouth occasional (7.5%) HP:0000160
8 oral cleft occasional (7.5%) HP:0000202
9 round face occasional (7.5%) HP:0000311
10 acrocyanosis occasional (7.5%) HP:0001063
11 respiratory insufficiency occasional (7.5%) HP:0002093
12 neurological speech impairment occasional (7.5%) HP:0002167
13 sleep disturbance occasional (7.5%) HP:0002360
14 short stature occasional (7.5%) HP:0004322
15 hyporeflexia rare (5%) HP:0001265
16 autosomal dominant inheritance HP:0000006
17 narrow mouth HP:0000160
18 cleft palate HP:0000175
19 epicanthus HP:0000286
20 facial asymmetry HP:0000324
21 low-set ears HP:0000369
22 deeply set eye HP:0000490
23 ptosis HP:0000508
24 blepharophimosis HP:0000581
25 upslanted palpebral fissure HP:0000582
26 hypotelorism HP:0000601
27 muscle weakness HP:0001324
28 skeletal muscle atrophy HP:0003202
29 short stature HP:0004322
30 depressed nasal bridge HP:0005280
31 peripheral neuropathy HP:0009830
32 axonal degeneration HP:0040078
33 brachial plexus neuropathy HP:0045054

Drugs & Therapeutics for Amyotrophy, Hereditary Neuralgic

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Interventional clinical trials:

Search ClinicalTrials, 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 Amyotrophy22 24 SEPT9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

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MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

33
Skeletal muscle, Eye

Animal Models for Amyotrophy, Hereditary Neuralgic or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1SEPT9p.Arg106TrpVAR_033101
2SEPT9p.Ser111PheVAR_033102

Clinvar genetic disease variations for Amyotrophy, Hereditary Neuralgic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SEPT9NM_006640.4(SEPT9): c.262C> T (p.Arg88Trp)single nucleotide variantPathogenicrs80338761GRCh37Chr 17, 75398380: 75398380
2SEPT9NM_006640.4(SEPT9): c.278C> T (p.Ser93Phe)single nucleotide variantPathogenicrs80338762GRCh37Chr 17, 75398396: 75398396
3SEPT9NM_006640.4(SEPT9): c.-134G> Csingle nucleotide variantPathogenicrs80338760GRCh37Chr 17, 75316275: 75316275
4SEPT9SEPT9, 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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GO Terms for genes affiliated with Amyotrophy, Hereditary Neuralgic

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Sources for Amyotrophy, Hereditary Neuralgic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet