MCID: AMY086
MIFTS: 32

Amyotrophy, Hereditary Neuralgic

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

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

MalaCards integrated aliases for Amyotrophy, Hereditary Neuralgic:

Name: Amyotrophy, Hereditary Neuralgic 54 29 13 69
Hereditary Brachial Plexus Neuropathy 23 50 24 25 71
Neuritis with Brachial Predilection 23 50 24 25 71
Hereditary Neuralgic Amyotrophy 23 50 24 25 71
Brachial Plexus Neuritis 25 56 69
Neuralgic Amyotrophy 25 56 69
Hna 24 25 71
Brachial Neuralgia 25 69
Napb 25 71
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 50
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 71
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

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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in first to third decade of life
number of episodes varies from 1 to many (up to 20)
symptoms resolve over weeks to months with usually no residual symptoms between attacks
episodes are triggered by infection, immunization, surgery, strenuous exercise, cold, pregnancy
facial dysmorphic features may not be present and may become less apparent in adulthood
distinct disorder from hereditary neuropathy with liability to pressure palsies (hnpp, )


HPO:

32
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


Summaries for Amyotrophy, Hereditary Neuralgic

NIH Rare Diseases : 50 hereditary neuralgic amyotrophy is a type of nervous system disease that affects the group of nerves that control movement in the arms and shoulders called the brachial plexus. signs and symptoms usually begin around 20 years of age and may include episodes of severe pain and muscle loss  in one or both shoulders and arms. these symptoms may last for a few hours to a few weeks. complications such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. attacks may occur by chance or may be triggered (e.g., by exercise, childbirth, surgery, infection etc.). individuals in some families with this condition sometimes share additional distinct physical and facial characteristics. hereditary neuralgic amyotrophy can be caused by mutations in the sept9 gene. mutations in the sept9 gene are inherited in an autosomal dominant manner. treatment for this condition is typically focused on pain management. last updated: 7/12/2017

MalaCards based summary : Amyotrophy, Hereditary Neuralgic, also known as hereditary brachial plexus neuropathy, is related to amyotrophic neuralgia and parsonage turner syndrome, and has symptoms including short stature, peripheral neuropathy and cleft palate. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPT9 (Septin 9). Affiliated tissues include skin, eye and skeletal muscle.

UniProtKB/Swiss-Prot : 71 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 : 54
Hereditary neuralgic amyotrophy (HNA) is an 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. (162100)

Wikipedia : 72 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 16)
id Related Disease Score Top Affiliating Genes
1 amyotrophic neuralgia 12.1
2 parsonage turner syndrome 11.5
3 radiation induced brachial plexopathy 11.0
4 brachial plexus neuritis 11.0
5 neurodegeneration with brain iron accumulation 6 10.9
6 neuropathy 10.4
7 hereditary neuropathy with liability to pressure palsy 10.2
8 hereditary neuropathies 10.2
9 neuritis 10.1
10 mononeuritis multiplex 10.0
11 brachial plexus neuropathy 10.0
12 gastric ulcer 9.9
13 dysphagia 9.7
14 hepatitis 9.7
15 hepatitis e 9.7
16 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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
ptosis
epicanthal folds
deep-set eyes
hypotelorism
upslanting palpebral fissures
more
Head And Neck- Mouth:
cleft palate
microstomia

Head And Neck- Nose:
depressed nasal root
long nasal bridge

Growth- Height:
short stature (in some cases)

Skin Nails & Hair- Skin:
skin folds or creases (neck or forearm)

Head And Neck- Ears:
low-set ears
dorsally rotated ears

Head And Neck- Face:
facial asymmetry

Neurologic- Peripheral Nervous System:
hyporeflexia (in some patients)
axonal degeneration
acute, recurrent episodes of brachial plexus (lumbosacral and phrenic nerve in some cases) neuropathy
muscle weakness usually following neuropathy
muscle atrophy usually following neuropathy
more
Head And Neck- Neck:
skin folds or creases


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 short stature 56 32 Occasional (29-5%) HP:0004322
2 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
3 cleft palate 56 32 Occasional (29-5%) HP:0000175
4 muscle weakness 56 32 Very frequent (99-80%) HP:0001324
5 narrow mouth 56 32 Occasional (29-5%) HP:0000160
6 hyporeflexia 32 occasional (7.5%) HP:0001265
7 ptosis 32 HP:0000508
8 low-set ears 32 HP:0000369
9 depressed nasal bridge 32 HP:0005280
10 round face 56 Occasional (29-5%)
11 scapular winging 56 Frequent (79-30%)
12 respiratory insufficiency 56 Occasional (29-5%)
13 hypotelorism 32 HP:0000601
14 blepharophimosis 32 HP:0000581
15 facial asymmetry 32 HP:0000324
16 epicanthus 32 HP:0000286
17 polyneuropathy 56 Very frequent (99-80%)
18 acrocyanosis 56 Occasional (29-5%)
19 sprengel anomaly 56 Frequent (79-30%)
20 arthralgia 56 Very frequent (99-80%)
21 paresthesia 56 Frequent (79-30%)
22 axonal degeneration 32 HP:0040078
23 sleep disturbance 56 Occasional (29-5%)
24 neurological speech impairment 56 Occasional (29-5%)
25 emg abnormality 56 Very frequent (99-80%)
26 skeletal muscle atrophy 32 HP:0003202
27 deeply set eye 32 HP:0000490
28 upslanted palpebral fissure 32 HP:0000582
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
Skin, Eye, Skeletal Muscle

Publications for Amyotrophy, Hereditary Neuralgic

Variations for Amyotrophy, Hereditary Neuralgic

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

71
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.-134G> C single nucleotide variant Pathogenic rs80338760 GRCh37 Chromosome 17, 75316275: 75316275
2 SEPT9 NM_006640.4(SEPT9): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs80338761 GRCh37 Chromosome 17, 75398380: 75398380
3 SEPT9 NM_006640.4(SEPT9): c.278C> T (p.Ser93Phe) single nucleotide variant Pathogenic rs80338762 GRCh37 Chromosome 17, 75398396: 75398396
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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