HNA
MCID: AMY086
MIFTS: 30

Amyotrophy, Hereditary Neuralgic (HNA) malady

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

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

Aliases & Descriptions for Amyotrophy, Hereditary Neuralgic:

Name: Amyotrophy, Hereditary Neuralgic 54 13 69
Hereditary Neuralgic Amyotrophy 23 50 24 25 66 29
Hereditary Brachial Plexus Neuropathy 23 50 24 25 66
Neuritis with Brachial Predilection 23 50 24 25 66
Brachial Plexus Neuritis 25 56 69
Neuralgic Amyotrophy 25 56 69
Hna 24 25 66
Brachial Neuralgia 25 69
Napb 25 66
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 50
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 66
Heredofamilial Neuritis with Brachial Plexus Predilection 25
Mononeuritis Multiplex with Brachial Predilection 56
Brachial Plexus Neuropathy, Hereditary 50
Familial Brachial Plexus Neuritis 25
Immune Brachial Plexus Neuropathy 56
Acute Brachial Plexus Neuritis 56
Neuralgic Shoulder Amyotrophy 56
Shoulder Girdle Neuropathy 25
Acute Brachial Neuritis 69
Amyotrophic Neuralgia 25
Brachial Neuritis 25
Winged Scapula 56

Characteristics:

Orphanet epidemiological data:

56
neuralgic amyotrophy
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;

GeneReviews:

23
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:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 162100
Orphanet 56 ORPHA2901
ICD10 via Orphanet 34 G54.5
UMLS via Orphanet 70 C0221759
MedGen 40 C1834304

Summaries for Amyotrophy, Hereditary Neuralgic

NIH Rare Diseases : 50 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 muscle weakness, short stature and cleft palate. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPT9 (Septin 9). Affiliated tissues include eye and skeletal muscle.

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

UniProtKB/Swiss-Prot : 66 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 : 71 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

GeneReviews: NBK1395

Related Diseases for Amyotrophy, Hereditary Neuralgic

Diseases related to Amyotrophy, Hereditary Neuralgic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 brachial plexus neuritis 12.4
2 amyotrophic neuralgia 12.1
3 parsonage turner syndrome 11.6
4 otofaciocervical syndrome 2 11.1
5 otofaciocervical syndrome 11.1
6 3-m syndrome 1 11.0
7 trichorhinophalangeal syndrome, type ii 11.0
8 neurodegeneration with brain iron accumulation 6 10.9
9 neuropathy 10.4
10 hereditary neuropathy with liability to pressure palsy 10.2
11 hereditary neuropathies 10.2
12 neuritis 10.1
13 mononeuritis multiplex 10.0
14 brachial plexus neuropathy 10.0
15 muscular dystrophy 10.0
16 myotonic dystrophy 10.0
17 gastric ulcer 9.9
18 polyneuropathy 9.8
19 exostosis 9.8
20 syringomyelia 9.8
21 plexopathy 9.8
22 breast cancer 9.8
23 demyelinating polyneuropathy 9.8
24 hepatitis 9.7
25 dysphagia 9.7
26 hepatitis e 9.7
27 cervicitis 9.7

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



Diseases related to Amyotrophy, Hereditary Neuralgic

Symptoms & Phenotypes for Amyotrophy, Hereditary Neuralgic

Symptoms by clinical synopsis from OMIM:

162100

Clinical features from OMIM:

162100

Human phenotypes related to Amyotrophy, Hereditary Neuralgic:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
2 short stature 56 32 Occasional (29-5%) HP:0004322
3 cleft palate 56 32 Occasional (29-5%) HP:0000175
4 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
5 narrow mouth 56 32 Occasional (29-5%) HP:0000160
6 arthralgia 56 Very frequent (99-80%)
7 low-set ears 32 HP:0000369
8 ptosis 32 HP:0000508
9 respiratory insufficiency 56 Occasional (29-5%)
10 neurological speech impairment 56 Occasional (29-5%)
11 sleep disturbance 56 Occasional (29-5%)
12 depressed nasal bridge 32 HP:0005280
13 acrocyanosis 56 Occasional (29-5%)
14 emg abnormality 56 Very frequent (99-80%)
15 skeletal muscle atrophy 32 HP:0003202
16 epicanthus 32 HP:0000286
17 sprengel anomaly 56 Frequent (79-30%)
18 scapular winging 56 Frequent (79-30%)
19 paresthesia 56 Frequent (79-30%)
20 deeply set eye 32 HP:0000490
21 upslanted palpebral fissure 32 HP:0000582
22 round face 56 Occasional (29-5%)
23 blepharophimosis 32 HP:0000581
24 hyporeflexia 32 HP:0001265
25 hypotelorism 32 HP:0000601
26 facial asymmetry 32 HP:0000324
27 polyneuropathy 56 Very frequent (99-80%)
28 axonal degeneration 32 HP:0040078
29 brachial plexus neuropathy 32 HP:0045054

Drugs & Therapeutics for Amyotrophy, Hereditary Neuralgic

Search Clinical Trials , NIH Clinical Center for Amyotrophy, Hereditary Neuralgic

Genetic Tests for Amyotrophy, Hereditary Neuralgic

Genetic tests related to Amyotrophy, Hereditary Neuralgic:

id Genetic test Affiliating Genes
1 Amyotrophy, Hereditary Neuralgic 29
2 Hereditary Neuralgic Amyotrophy 24 SEPT9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

39
Eye, Skeletal Muscle

Publications for Amyotrophy, Hereditary Neuralgic

Variations for Amyotrophy, Hereditary Neuralgic

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

66
id Symbol AA change Variation ID SNP ID
1 SEPT9 p.Arg106Trp VAR_033101 rs80338761
2 SEPT9 p.Ser111Phe VAR_033102 rs80338762

ClinVar genetic disease variations for Amyotrophy, Hereditary Neuralgic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SEPT9 NM_006640.4(SEPT9): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs80338761 GRCh37 Chromosome 17, 75398380: 75398380
2 SEPT9 NM_006640.4(SEPT9): c.278C> T (p.Ser93Phe) single nucleotide variant Pathogenic rs80338762 GRCh37 Chromosome 17, 75398396: 75398396
3 SEPT9 NM_006640.4(SEPT9): c.-134G> C single nucleotide variant Pathogenic rs80338760 GRCh37 Chromosome 17, 75316275: 75316275
4 SEPT9 SEPT9, 38-KB DUP duplication Pathogenic

Expression for Amyotrophy, Hereditary Neuralgic

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

Pathways for Amyotrophy, Hereditary Neuralgic

GO Terms for Amyotrophy, Hereditary Neuralgic

Sources for Amyotrophy, Hereditary Neuralgic

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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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