MCID: AMY086
MIFTS: 35

Amyotrophy, Hereditary Neuralgic

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

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

MalaCards integrated aliases for Amyotrophy, Hereditary Neuralgic:

Name: Amyotrophy, Hereditary Neuralgic 53 28 13 69
Neuritis with Brachial Predilection 53 23 49 24 71
Hereditary Neuralgic Amyotrophy 23 49 24 71 36
Hereditary Brachial Plexus Neuropathy 23 49 24 71
Brachial Plexus Neuritis 24 55 69
Neuralgic Amyotrophy 24 55 69
Napb 53 24 71
Hna 53 24 71
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 53 49
Brachial Plexus Neuropathy, Hereditary 53 49
Brachial Neuralgia 24 69
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 71
Heredofamilial Neuritis with Brachial Plexus Predilection 24
Mononeuritis Multiplex with Brachial Predilection 55
Neuritis with Brachial Predilection; Napb 53
Familial Brachial Plexus Neuritis 24
Immune Brachial Plexus Neuropathy 55
Acute Brachial Plexus Neuritis 55
Neuralgic Shoulder Amyotrophy 55
Shoulder Girdle Neuropathy 24
Acute Brachial Neuritis 69
Amyotrophic Neuralgia 24
Brachial Neuritis 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
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: 55  
Rare neurological diseases


External Ids:

OMIM 53 162100
Orphanet 55 ORPHA2901
UMLS via Orphanet 70 C0221759 C1510479
ICD10 via Orphanet 33 G54.5
MedGen 39 C1834304
KEGG 36 H01131

Summaries for Amyotrophy, Hereditary Neuralgic

NIH Rare Diseases : 49 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 neuritis with brachial predilection, is related to brachial plexus neuritis and parsonage turner syndrome, 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 skin, eye and skeletal muscle.

OMIM : 53 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)

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 : 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.

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:

# Related Disease Score Top Affiliating Genes
1 brachial plexus neuritis 12.5
2 parsonage turner syndrome 11.7
3 neurodegeneration with brain iron accumulation 6 11.1
4 amyotrophic neuralgia 10.3
5 neuritis 10.2
6 mononeuritis multiplex 10.1
7 brachial plexus neuropathy 10.0
8 neuropathy 10.0
9 cervical rib 9.8
10 cervicitis 9.8

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:

53
Head And Neck Ears:
low-set ears
dorsally rotated ears

Head And Neck Mouth:
cleft palate
microstomia

Head And Neck Nose:
depressed nasal root
long nasal bridge

Head And Neck Neck:
skin folds or creases

Neurologic Peripheral Nervous System:
acute, recurrent episodes of brachial plexus (lumbosacral and phrenic nerve in some cases) neuropathy
muscle weakness usually following neuropathy
muscle atrophy usually following neuropathy
sensory deficits (in some patients)
focal paresis
more
Head And Neck Eyes:
ptosis
blepharophimosis
hypotelorism
epicanthal folds
deep-set eyes
more
Head And Neck Face:
facial asymmetry

Growth Height:
short stature (in some cases)

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


Clinical features from OMIM:

162100

Human phenotypes related to Amyotrophy, Hereditary Neuralgic:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 55 31 Very frequent (99-80%) HP:0001324
2 short stature 55 31 Occasional (29-5%) HP:0004322
3 cleft palate 55 31 Occasional (29-5%) HP:0000175
4 peripheral neuropathy 55 31 Occasional (29-5%) HP:0009830
5 narrow mouth 55 31 Occasional (29-5%) HP:0000160
6 arthralgia 55 Very frequent (99-80%)
7 low-set ears 31 HP:0000369
8 ptosis 31 HP:0000508
9 respiratory insufficiency 55 Occasional (29-5%)
10 neurological speech impairment 55 Occasional (29-5%)
11 sleep disturbance 55 Occasional (29-5%)
12 depressed nasal bridge 31 HP:0005280
13 acrocyanosis 55 Occasional (29-5%)
14 emg abnormality 55 Very frequent (99-80%)
15 skeletal muscle atrophy 31 HP:0003202
16 epicanthus 31 HP:0000286
17 sprengel anomaly 55 Frequent (79-30%)
18 scapular winging 55 Frequent (79-30%)
19 paresthesia 55 Frequent (79-30%)
20 deeply set eye 31 HP:0000490
21 upslanted palpebral fissure 31 HP:0000582
22 round face 55 Occasional (29-5%)
23 blepharophimosis 31 HP:0000581
24 hyporeflexia 31 occasional (7.5%) HP:0001265
25 hypotelorism 31 HP:0000601
26 facial asymmetry 31 HP:0000324
27 polyneuropathy 55 Very frequent (99-80%)
28 axonal degeneration 31 HP:0040078
29 brachial plexus neuropathy 31 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:

# Genetic test Affiliating Genes
1 Amyotrophy, Hereditary Neuralgic 28 SEPT9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

38
Skin, Eye, Skeletal Muscle

Publications for Amyotrophy, Hereditary Neuralgic

Articles related to Amyotrophy, Hereditary Neuralgic:

(show all 34)
# Title Authors Year
1
Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene. ( 22981636 )
2013
2
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. ( 19939853 )
2010
3
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation. ( 20019224 )
2010
4
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. ( 19451530 )
2009
5
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. ( 19139049 )
2009
6
Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis). ( 19588414 )
2009
7
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation -- a family study. ( 18492087 )
2008
8
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. ( 17546647 )
2007
9
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. ( 16775374 )
2006
10
Histology of hereditary neuralgic amyotrophy. ( 15716548 )
2005
11
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. ( 16186812 )
2005
12
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. ( 15052627 )
2004
13
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. ( 11935323 )
2002
14
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous. ( 11697522 )
2001
15
Hereditary neuralgic amyotrophy. ( 11523561 )
2001
16
Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy. ( 11245726 )
2001
17
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. ( 11739810 )
2001
18
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). ( 11409865 )
2001
19
The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? ( 10734003 )
2000
20
Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium. ( 10996784 )
2000
21
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25. ( 10602368 )
1999
22
Hereditary neuralgic amyotrophy: mutation analysis of candidate genes. ( 10586268 )
1999
23
Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA). ( 10088036 )
1998
24
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. ( 9439655 )
1997
25
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. ( 9150742 )
1997
26
Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q. ( 9191796 )
1997
27
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. ( 8780104 )
1996
28
Hereditary neuralgic amyotrophy. ( 8894409 )
1996
29
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. ( 7991107 )
1994
30
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. ( 7991108 )
1994
31
Hereditary Neuralgic Amyotrophy ( 20301569 )
1993
32
Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. ( 8429311 )
1993
33
Hereditary neuralgic amyotrophy. Clinical, genetic, electrophysiological and histopathological studies. ( 6668475 )
1983
34
Heredofamilial branchial plexus neuropathy (hereditary neuralgic amyotrophy with branchial predilection) in childhood. ( 205473 )
1978

Variations for Amyotrophy, Hereditary Neuralgic

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

71
# 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
# 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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