MCID: AMY086
MIFTS: 31

Amyotrophy, Hereditary Neuralgic malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

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Aliases & Descriptions for Amyotrophy, Hereditary Neuralgic:

Name: Amyotrophy, Hereditary Neuralgic 51 12 67
Hereditary Neuralgic Amyotrophy 23 47 24 25 69 26
Hereditary Brachial Plexus Neuropathy 23 47 24 25 69
Neuritis with Brachial Predilection 23 47 24 25 69
Brachial Plexus Neuritis 25 53 67
Neuralgic Amyotrophy 25 53 67
Hna 24 25 69
Brachial Neuralgia 25 67
Napb 25 69
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 47
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 69
Heredofamilial Neuritis with Brachial Plexus Predilection 25
 
Mononeuritis Multiplex with Brachial Predilection 53
Brachial Plexus Neuropathy, Hereditary 47
Immune Brachial Plexus Neuropathy 53
Familial Brachial Plexus Neuritis 25
Acute Brachial Plexus Neuritis 53
Neuralgic Shoulder Amyotrophy 53
Shoulder Girdle Neuropathy 25
Acute Brachial Neuritis 67
Amyotrophic Neuralgia 25
Brachial Neuritis 25
Winged Scapula 53

Characteristics:

Orphanet epidemiological data:

53
brachial plexus neuritis:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (United States),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy

HPO:

63
amyotrophy, hereditary neuralgic:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: studies based on clinical criteria suggest that the penetrance is between 80% and greater than 90% for all individuals with hna, not taking into account the underlying cause of the disorder [kuhlenbäumer et al 2000, van alfen 2007]...


Classifications:



External Ids:

OMIM51 162100
Orphanet53 ORPHA2901
ICD10 via Orphanet30 G54.5
UMLS via Orphanet68 C0221759
MedGen36 C1834304

Summaries for Amyotrophy, Hereditary Neuralgic

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NIH Rare Diseases:47 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 amyotrophic neuralgia, and has symptoms including polyneuropathy, muscle weakness and arthralgia. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPT9 (Septin 9). Affiliated tissues include skeletal muscle and eye.

UniProtKB/Swiss-Prot:69 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.

Genetics Home Reference:25 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:51 Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized... (162100) more...

Wikipedia:70 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

GeneReviews for NBK1395

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

Human phenotypes related to Amyotrophy, Hereditary Neuralgic:

 63 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyneuropathy63 53 hallmark (90%) Very frequent (99-80%) HP:0001271
2 muscle weakness63 53 hallmark (90%) Very frequent (99-80%) HP:0001324
3 arthralgia63 53 hallmark (90%) Very frequent (99-80%) HP:0002829
4 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
5 sprengel anomaly63 53 typical (50%) Frequent (79-30%) HP:0000912
6 paresthesia63 53 typical (50%) Frequent (79-30%) HP:0003401
7 narrow mouth63 53 occasional (7.5%) Occasional (29-5%) HP:0000160
8 oral cleft63 occasional (7.5%) HP:0000202
9 round face63 53 occasional (7.5%) Occasional (29-5%) HP:0000311
10 acrocyanosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001063
11 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
12 neurological speech impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0002167
13 sleep disturbance63 53 occasional (7.5%) Occasional (29-5%) HP:0002360
14 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
15 hyporeflexia63 rare (5%) HP:0001265
16 cleft palate63 53 Occasional (29-5%) HP:0000175
17 epicanthus63 HP:0000286
18 facial asymmetry63 HP:0000324
19 low-set ears63 HP:0000369
20 deeply set eye63 HP:0000490
21 ptosis63 HP:0000508
22 blepharophimosis63 HP:0000581
23 upslanted palpebral fissure63 HP:0000582
24 hypotelorism63 HP:0000601
25 skeletal muscle atrophy63 HP:0003202
26 depressed nasal bridge63 HP:0005280
27 peripheral neuropathy63 53 Occasional (29-5%) HP:0009830
28 axonal degeneration63 HP:0040078
29 brachial plexus neuropathy63 HP:0045054
30 scapular winging53 Frequent (79-30%)

UMLS symptoms related to Amyotrophy, Hereditary Neuralgic:


pain

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 Amyotrophy, Hereditary Neuralgic26
2 Hereditary Neuralgic Amyotrophy24 SEPT9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

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MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

35
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:

69
id Symbol AA change Variation ID SNP ID
1SEPT9p.Arg106TrpVAR_033101rs80338761
2SEPT9p.Ser111PheVAR_033102rs80338762

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)SNVPathogenicrs80338761GRCh37Chr 17, 75398380: 75398380
2SEPT9NM_006640.4(SEPT9): c.278C> T (p.Ser93Phe)SNVPathogenicrs80338762GRCh37Chr 17, 75398396: 75398396
3SEPT9NM_006640.4(SEPT9): c.-134G> CSNVPathogenicrs80338760GRCh37Chr 17, 75316275: 75316275
4SEPT9SEPT9, 38-KB DUPduplicationPathogenicChr na, -1: -1

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet