MCID: AMY086
MIFTS: 33

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 50 12 66
Hereditary Neuralgic Amyotrophy 22 46 23 24 68 25
Hereditary Brachial Plexus Neuropathy 22 46 23 24 68
Neuritis with Brachial Predilection 22 46 23 24 68
Brachial Plexus Neuritis 24 52 66
Neuralgic Amyotrophy 24 52 66
Hna 23 24 68
Brachial Neuralgia 24 66
Napb 24 68
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 46
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 68
Heredofamilial Neuritis with Brachial Plexus Predilection 24
 
Mononeuritis Multiplex with Brachial Predilection 52
Brachial Plexus Neuropathy, Hereditary 46
Immune Brachial Plexus Neuropathy 52
Familial Brachial Plexus Neuritis 24
Acute Brachial Plexus Neuritis 52
Neuralgic Shoulder Amyotrophy 52
Shoulder Girdle Neuropathy 24
Acute Brachial Neuritis 66
Amyotrophic Neuralgia 24
Brachial Neuritis 24
Winged Scapula 52

Characteristics:

Orphanet epidemiological data:

52
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:

62
amyotrophy, hereditary neuralgic:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 162100
Orphanet52 ORPHA2901
ICD10 via Orphanet29 G54.5
UMLS via Orphanet67 C0221759
MedGen35 C1834304

Summaries for Amyotrophy, Hereditary Neuralgic

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NIH Rare Diseases:46 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 amyotrophic neuralgia and parsonage turner syndrome, 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.

Genetics Home Reference:24 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:50 Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized... (162100) more...

UniProtKB/Swiss-Prot:68 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:69 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

GeneReviews summary 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

Symptoms:

 52 (show all 16)
  • narrow mouth
  • cleft palate
  • round face
  • sprengel anomaly
  • acrocyanosis
  • polyneuropathy
  • muscle weakness
  • respiratory insufficiency
  • neurological speech impairment
  • arthralgia
  • sleep disturbance
  • paresthesia
  • emg abnormality
  • scapular winging
  • short stature
  • peripheral neuropathy

HPO human phenotypes related to Amyotrophy, Hereditary Neuralgic:

(show all 32)
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 narrow mouth HP:0000160
17 cleft palate HP:0000175
18 epicanthus HP:0000286
19 facial asymmetry HP:0000324
20 low-set ears HP:0000369
21 deeply set eye HP:0000490
22 ptosis HP:0000508
23 blepharophimosis HP:0000581
24 upslanted palpebral fissure HP:0000582
25 hypotelorism HP:0000601
26 muscle weakness HP:0001324
27 skeletal muscle atrophy HP:0003202
28 short stature HP:0004322
29 depressed nasal bridge HP:0005280
30 peripheral neuropathy HP:0009830
31 axonal degeneration HP:0040078
32 brachial plexus neuropathy HP:0045054

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 Neuralgic25
2 Hereditary Neuralgic Amyotrophy23 SEPT9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

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MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet