HNA
MCID: AMY086
MIFTS: 46

Amyotrophy, Hereditary Neuralgic (HNA)

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

Aliases & Classifications for Amyotrophy, Hereditary Neuralgic

MalaCards integrated aliases for Amyotrophy, Hereditary Neuralgic:

Name: Amyotrophy, Hereditary Neuralgic 57 29 13 6 72
Hereditary Neuralgic Amyotrophy 24 53 25 74 37 6
Neuritis with Brachial Predilection 57 24 53 25 74
Neuralgic Amyotrophy 25 59 55 72 33
Hereditary Brachial Plexus Neuropathy 24 53 25 74
Brachial Plexus Neuritis 25 59 72
Napb 57 25 74
Hna 57 25 74
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 57 53
Brachial Plexus Neuropathy, Hereditary 57 53
Brachial Neuralgia 25 72
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 74
Heredofamilial Neuritis with Brachial Plexus Predilection 25
Mononeuritis Multiplex with Brachial Predilection 59
Neuritis with Brachial Predilection; Napb 57
Familial Brachial Plexus Neuritis 25
Immune Brachial Plexus Neuropathy 59
Amyotrophy, Neuralgic, Hereditary 40
Acute Brachial Plexus Neuritis 59
Neuralgic Shoulder Amyotrophy 59
Shoulder Girdle Neuropathy 25
Acute Brachial Neuritis 72
Amyotrophic Neuralgia 25
Brachial Neuritis 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

24
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: 59  
Rare neurological diseases


External Ids:

OMIM 57 162100
KEGG 37 H01131
ICD10 33 G54.5
ICD10 via Orphanet 34 G54.5
UMLS via Orphanet 73 C0221759 C1510479
Orphanet 59 ORPHA2901
MedGen 42 C1834304
UMLS 72 C0085920 C0221759 C1510479 more

Summaries for Amyotrophy, Hereditary Neuralgic

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. People with hereditary neuralgic amyotrophy usually begin experiencing attacks in their twenties, but episodes have occurred as early as the age of 1 year in some individuals. The attacks may be spontaneous or triggered by stress such as strenuous exercise, childbirth, surgery, exposure to cold, infections, immunizations, or emotional disturbance. While the frequency of the episodes tends to decrease with age, affected individuals are often left with residual problems, such as chronic pain and impaired movement, that accumulate over time. Typically an attack begins with severe pain on one or both sides of the body; right-sided involvement is most common. The pain may be difficult to control with medication and usually lasts about a month. Within a period of time ranging from a few hours to a couple of weeks, the muscles in the affected area begin to weaken and waste away (atrophy), and movement becomes difficult. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a common sign known as scapular winging. Additional features of hereditary neuralgic amyotrophy may include decreased sensation (hypoesthesia) and abnormal sensations in the skin such as numbness or tingling (paresthesias). Areas other than the shoulder and arm may also be involved. In a few affected families, individuals with hereditary neuralgic amyotrophy also have unusual physical characteristics including short stature, excess skin folds on the neck and arms, an opening in the roof of the mouth (cleft palate), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and partially webbed or fused fingers or toes (partial syndactyly). They may also have distinctive facial features including eyes set close together (ocular hypotelorism), a narrow opening of the eyelids (short palpebral fissures) with a skin fold covering the inner corner of the eye (epicanthal fold), a long nasal bridge, a narrow mouth, and differences between one side of the face and the other (facial asymmetry).

MalaCards based summary : Amyotrophy, Hereditary Neuralgic, also known as hereditary neuralgic amyotrophy, is related to radiation induced brachial plexopathy and neurodegeneration with brain iron accumulation 6. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPTIN9 (Septin 9). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and skeletal muscle, and related phenotypes are muscle weakness and arthralgia

NIH Rare Diseases : 53 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.

OMIM : 57 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)

KEGG : 37
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is triggered by environmental factors such as infection or parturition. It has been reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.

UniProtKB/Swiss-Prot : 74 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 : 75 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 top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 radiation induced brachial plexopathy 11.5
2 neurodegeneration with brain iron accumulation 6 11.4
3 brachial plexus neuritis 11.1
4 mononeuropathy 10.6
5 hepatitis 10.5
6 plexopathy 10.5
7 haemophilus influenzae 10.5
8 amyotrophic neuralgia 10.5
9 osteomyelitis 10.4
10 polyneuropathy 10.4
11 acute respiratory distress syndrome 10.4
12 cleft palate, isolated 10.4
13 radiculopathy 10.4
14 muscular atrophy 10.4
15 nervous system disease 10.4
16 gonadal dysgenesis 10.3
17 turner syndrome 10.3
18 brachial plexus neuropathy 10.3
19 neuritis 10.3
20 cauda equina syndrome 10.3
21 lyme disease 10.3
22 guillain-barre syndrome 10.3
23 mononeuritis multiplex 10.3
24 polyradiculopathy 10.3
25 neuromuscular disease 10.3
26 poliomyelitis 10.3
27 lung disease 10.3
28 chronic pain 10.3
29 cytomegalovirus infection 10.3
30 encephalopathy 10.3
31 parsonage turner syndrome 10.2
32 trigeminal neuralgia 10.2
33 47,xyy 10.2
34 neuropathy, hereditary, with liability to pressure palsies 10.2
35 helix syndrome 10.2
36 neutropenia 10.2
37 vasculitis 10.2
38 amyotrophic lateral sclerosis 1 10.1
39 blepharophimosis, ptosis, and epicanthus inversus 10.1
40 carpal tunnel syndrome 10.1
41 charcot-marie-tooth disease, demyelinating, type 1a 10.1
42 epicanthus 10.1
43 facioscapulohumeral muscular dystrophy 1 10.1
44 rheumatoid arthritis 10.1
45 spondylosis, cervical 10.1
46 chromosome 2q35 duplication syndrome 10.1
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
48 osteoid osteoma 10.1
49 pulmonary alveolar microlithiasis 10.1
50 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1

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



Diseases related to Amyotrophy, Hereditary Neuralgic

Symptoms & Phenotypes for Amyotrophy, Hereditary Neuralgic

Human phenotypes related to Amyotrophy, Hereditary Neuralgic:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
3 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
4 polyneuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001271
5 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
6 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
7 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
8 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
9 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
10 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
11 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
12 acrocyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001063
13 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
14 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
15 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
16 hyporeflexia 32 occasional (7.5%) HP:0001265
17 peripheral neuropathy 59 32 Occasional (29-5%) HP:0009830
18 low-set ears 32 HP:0000369
19 ptosis 32 HP:0000508
20 depressed nasal bridge 32 HP:0005280
21 skeletal muscle atrophy 32 HP:0003202
22 epicanthus 32 HP:0000286
23 deeply set eye 32 HP:0000490
24 facial asymmetry 32 HP:0000324
25 upslanted palpebral fissure 32 HP:0000582
26 blepharophimosis 32 HP:0000581
27 hypotelorism 32 HP:0000601
28 axonal degeneration 32 HP:0040078
29 peripheral axonal degeneration 32 HP:0000764
30 brachial plexus neuropathy 32 HP:0045054

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
dorsally rotated ears

Head And Neck Mouth:
cleft palate
microstomia

Neurologic Peripheral Nervous System:
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
sensory deficits (in some patients)
more
Growth Height:
short stature (in some cases)

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

Head And Neck Eyes:
ptosis
blepharophimosis
hypotelorism
epicanthal folds
deep-set eyes
more
Head And Neck Face:
facial asymmetry

Head And Neck Nose:
depressed nasal root
long nasal bridge

Head And Neck Neck:
skin folds or creases

Clinical features from OMIM:

162100

Drugs & Therapeutics for Amyotrophy, Hereditary Neuralgic

Drugs for Amyotrophy, Hereditary Neuralgic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 Cholinergic Agents Phase 4
3 Neurotransmitter Agents Phase 4
4 Acetylcholine Release Inhibitors Phase 4
5 Botulinum Toxins Phase 4
6
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
7 Analgesics Phase 2, Phase 3
8 Cyclooxygenase Inhibitors Phase 2, Phase 3
9 Analgesics, Non-Narcotic Phase 2, Phase 3
10 Peripheral Nervous System Agents Phase 2, Phase 3
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
12 Anti-Inflammatory Agents Phase 2, Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14 4-phenylbutyric acid Phase 1, Phase 2
15 Immunologic Factors
16 Vaccines

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Probe Study to Evaluate the Efficacy of Botulinum Toxin Serotype A Injections for Cervicobrachial Myofascial Syndrome Completed NCT00241215 Phase 4 Botulinum toxin serotype A
2 Hypoalgesic Effect of Median Nerve Neural Mobilization Versus Ibuprofen Pharmacologic Treatment in Patients With Cervicobrachial Pain Completed NCT02593721 Phase 2, Phase 3 Ibuprofen
3 Hypoalgesic Effect of Median Nerve Neural Mobilization in Cervicobrachial Pain Compared to a Controlled Group Completed NCT02596815 Phase 2
4 Hypoalgesic Effect of Neural Mobilization in Cervicobrachial Pain Compared to a Controlled Group Completed NCT02595294 Phase 2
5 Safety and Dose Escalating Study of Oral Sodium Phenylbutyrate in Subjects With Amyotrophic Lateral Sclerosis Completed NCT00107770 Phase 1, Phase 2 sodium phenylbutyrate
6 Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
7 Longitudinal Experimental Study on ULNTT1 and Cervico-Thoracic Spine Motion Patterns Relationship Completed NCT02632357
8 The GRANVIA®-C Cervical Disc Prosthesis to Treat Symptomatic Degenerative Disc Diseases Completed NCT01518582
9 A Phase IV Study to Assess the Safety of Menveo Vaccine Being Used by HMO Subjects Aged 11-21 Years of Age Completed NCT01452464
10 Cervicobrachial Neuralgia and Sagital Balance of the Cervical Spine Recruiting NCT03397459
11 Neuralgic Amyotrophy: Central Reorganization and Rehabilitation After Peripheral Dysfunction Enrolling by invitation NCT03441347

Search 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 29 SEPTIN9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

41
Skin, Eye, Skeletal Muscle

Publications for Amyotrophy, Hereditary Neuralgic

Articles related to Amyotrophy, Hereditary Neuralgic:

(show top 50) (show all 93)
# Title Authors PMID Year
1
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. 9 38 4 8 71
19451530 2009
2
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. 9 38 4 8 71
19139049 2009
3
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. 9 38 4 8 71
16186812 2005
4
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. 9 38 8 71
18492087 2008
5
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. 38 4 8
19939853 2010
6
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. 38 4 8
11739810 2001
7
Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium. 38 4 8
10996784 2000
8
SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy. 4 8
19204161 2009
9
Hereditary Neuralgic Amyotrophy 38 71
20301569 2008
10
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. 38 8
11935323 2002
11
Hereditary neuralgic amyotrophy. 38 8
11523561 2001
12
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). 38 8
11409865 2001
13
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. 38 8
9439655 1997
14
Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features -- a case of hereditary neuralgic amyotrophy. 38 8
9237508 1997
15
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. 38 8
9150742 1997
16
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. 38 8
8780104 1996
17
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. 38 8
7991107 1994
18
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. 38 8
7991108 1994
19
Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. 38 8
8429311 1993
20
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation. 38 4
20019224 2010
21
Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis). 38 4
19588414 2009
22
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. 38 4
17546647 2007
23
Translational control of SEPT9 isoforms is perturbed in disease. 38 4
17468182 2007
24
The clinical spectrum of neuralgic amyotrophy in 246 cases. 38 4
16371410 2006
25
Histology of hereditary neuralgic amyotrophy. 38 4
15716548 2005
26
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous. 38 4
11697522 2001
27
Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy. 38 4
11245726 2001
28
The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? 38 4
10734003 2000
29
Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy--two genetically distinct disorders. 8
7630211 1995
30
Familial long thoracic nerve palsy: a manifestation of brachial plexus neuropathy. 8
3018625 1986
31
Hereditary recurrent brachial plexus neuropathy with dysmorphic features. 8
4003034 1985
32
The migrant sensory neuritis of Wartenberg. 8
6842194 1983
33
Heredofamilial branchial plexus neuropathy (hereditary neuralgic amyotrophy with branchial predilection) in childhood. 38 4
205473 1978
34
Familial neuralgic amyotrophy. Report of three families with review of the literature. 8
4434174 1974
35
Hereditary recurrent brachial neuropathy. 8
4350683 1973
36
Natural history of brachial plexus neuropathy. Report on 99 patients. 8
4339239 1972
37
Familial brachial neuropathy. Two case reports with discussion. 8
4328303 1971
38
Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. 8
4297726 1968
39
Heredofamilial neuritis with brachial predilection. 8
14450651 1961
40
Heredofamilial mononeuritis multiplex with brachial predilection. 8
13837190 1960
41
Four cases of anti-ganglioside antibody-positive neuralgic amyotrophy with good response to intravenous immunoglobulin infusion therapy. 4
21872943 2011
42
Rapid resolution of severe neuralgic amyotrophy after treatment with corticosteroids and intravenous immunoglobulin. 4
21717467 2011
43
Clinical and pathophysiological concepts of neuralgic amyotrophy. 4
21556032 2011
44
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". 4
21262397 2011
45
Alternative splicing of sept9a and sept9b in zebrafish produces multiple mRNA transcripts expressed throughout development. 9 38
20502708 2010
46
Evaluation of prednisolone treatment in the acute phase of neuralgic amyotrophy: an observational study. 4
19321467 2009
47
The neuralgic amyotrophy consultation. 4
17446996 2007
48
Partial but rapid recovery from paralysis after immunomodulation during early stage of neuralgic amyotrophy. 4
16778440 2006
49
High dose intravenous immune globulin in the treatment of hereditary recurrent brachial plexus neuropathy. 4
12640095 2003
50
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome. 4
12400075 2002

Variations for Amyotrophy, Hereditary Neuralgic

ClinVar genetic disease variations for Amyotrophy, Hereditary Neuralgic:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SEPTIN9 NM_006640.4(SEPTIN9): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs80338761 17:75398380-75398380 17:77402298-77402298
2 SEPTIN9 NM_006640.4(SEPTIN9): c.278C> T (p.Ser93Phe) single nucleotide variant Pathogenic rs80338762 17:75398396-75398396 17:77402314-77402314
3 SEPTIN9 NM_006640.4(SEPTIN9): c.-134G> C single nucleotide variant Pathogenic rs80338760 17:75316275-75316275 17:77320193-77320193
4 SEPTIN9 SEPT9, 38-KB DUP duplication Pathogenic
5 SEPTIN9 NM_006640.4(SEPTIN9): c.1284G> A (p.Ala428=) single nucleotide variant Conflicting interpretations of pathogenicity rs768871202 17:75486899-75486899 17:77490817-77490817
6 SEPTIN9 NM_006640.4(SEPTIN9): c.*5dup duplication Uncertain significance rs886053486 17:75494745-75494745 17:77498663-77498663
7 SEPTIN9 NM_006640.4(SEPTIN9): c.484G> A (p.Ala162Thr) single nucleotide variant Uncertain significance rs199861986 17:75398602-75398602 17:77402520-77402520
8 SEPTIN9 NM_006640.4(SEPTIN9): c.988G> A (p.Asp330Asn) single nucleotide variant Uncertain significance rs201560726 17:75483634-75483634 17:77487552-77487552
9 SEPTIN9 NM_006640.4(SEPTIN9): c.*989T> A single nucleotide variant Uncertain significance rs879645823 17:75495729-75495729 17:77499647-77499647
10 SEPTIN9 NM_006640.4(SEPTIN9): c.*1130_*1131insAAG insertion Uncertain significance rs886053496 17:75495870-75495871 17:77499788-77499789
11 SEPTIN9 NM_006640.4(SEPTIN9): c.*867G> A single nucleotide variant Uncertain significance rs886053494 17:75495607-75495607 17:77499525-77499525
12 SEPTIN9 NM_006640.4(SEPTIN9): c.-366G> A single nucleotide variant Uncertain significance rs769442066 17:75316043-75316043 17:77319961-77319961
13 SEPTIN9 NM_006640.4(SEPTIN9): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs781163314 17:75398198-75398198 17:77402116-77402116
14 SEPTIN9 NM_006640.4(SEPTIN9): c.*9dup duplication Uncertain significance rs886053487 17:75494749-75494749 17:77498667-77498667
15 SEPTIN9 NM_006640.4(SEPTIN9): c.*1463G> T single nucleotide variant Uncertain significance rs557737230 17:75496203-75496203 17:77500121-77500121
16 SEPTIN9 NM_006640.4(SEPTIN9): c.104G> A (p.Arg35Gln) single nucleotide variant Uncertain significance rs886053485 17:75398222-75398222 17:77402140-77402140
17 SEPTIN9 NM_006640.4(SEPTIN9): c.*14dup duplication Uncertain significance rs886053488 17:75494754-75494754 17:77498672-77498672
18 SEPTIN9 NM_006640.4(SEPTIN9): c.*903C> T single nucleotide variant Uncertain significance rs886053495 17:75495643-75495643 17:77499561-77499561
19 SEPTIN9 NM_006640.4(SEPTIN9): c.*1292G> A single nucleotide variant Uncertain significance rs747361957 17:75496032-75496032 17:77499950-77499950
20 SEPTIN9 NM_006640.4(SEPTIN9): c.-723G> A single nucleotide variant Uncertain significance rs765972765 17:75315686-75315686 17:77319604-77319604
21 SEPTIN9 NM_006640.4(SEPTIN9): c.-337G> A single nucleotide variant Uncertain significance rs367749793 17:75316072-75316072 17:77319990-77319990
22 SEPTIN9 NM_006640.4(SEPTIN9): c.-116_-114AGG[6] short repeat Uncertain significance rs372287642 17:75316311-75316316 17:77320229-77320234
23 SEPTIN9 NM_006640.4(SEPTIN9): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs11537706 17:75398266-75398266 17:77402184-77402184
24 SEPTIN9 NM_006640.4(SEPTIN9): c.268A> G (p.Thr90Ala) single nucleotide variant Uncertain significance rs746996757 17:75398386-75398386 17:77402304-77402304
25 SEPTIN9 NM_006640.4(SEPTIN9): c.465C> T (p.Pro155=) single nucleotide variant Uncertain significance rs763954299 17:75398583-75398583 17:77402501-77402501
26 SEPTIN9 NM_006640.4(SEPTIN9): c.765G> A (p.Pro255=) single nucleotide variant Uncertain significance rs751622773 17:75478323-75478323 17:77482241-77482241
27 SEPTIN9 NM_006640.4(SEPTIN9): c.1266C> G (p.Val422=) single nucleotide variant Uncertain significance rs772005682 17:75486881-75486881 17:77490799-77490799
28 SEPTIN9 NM_006640.4(SEPTIN9): c.1530C> G (p.Thr510=) single nucleotide variant Uncertain significance rs373520148 17:75493407-75493407 17:77497325-77497325
29 SEPTIN9 NM_006640.4(SEPTIN9): c.*5_*6insG insertion Uncertain significance rs1555681838 17:75494745-75494746 17:77498663-77498664
30 SEPTIN9 NM_006640.4(SEPTIN9): c.*11dup duplication Uncertain significance rs1555681846 17:75494751-75494751 17:77498669-77498669
31 SEPTIN9 NM_006640.4(SEPTIN9): c.*20dup duplication Uncertain significance rs886053490 17:75494760-75494760 17:77498678-77498678
32 SEPTIN9 NM_006640.4(SEPTIN9): c.*417C> T single nucleotide variant Uncertain significance rs758432689 17:75495157-75495157 17:77499075-77499075
33 SEPTIN9 NM_006640.4(SEPTIN9): c.*586A> G single nucleotide variant Uncertain significance rs886053492 17:75495326-75495326 17:77499244-77499244
34 SEPTIN9 NM_006640.4(SEPTIN9): c.*759A> G single nucleotide variant Uncertain significance rs886053493 17:75495499-75495499 17:77499417-77499417
35 SEPTIN9 NM_006640.4(SEPTIN9): c.*1204A> G single nucleotide variant Uncertain significance rs568078300 17:75495944-75495944 17:77499862-77499862
36 SEPTIN9 NM_006640.4(SEPTIN9): c.*1724G> A single nucleotide variant Uncertain significance rs886053498 17:75496464-75496464 17:77500382-77500382
37 SEPTIN9 NM_006640.4(SEPTIN9): c.*1847G> A single nucleotide variant Likely benign rs535971752 17:75496587-75496587 17:77500505-77500505
38 SEPTIN9 NM_006640.4(SEPTIN9): c.*1900A> G single nucleotide variant Likely benign rs180847518 17:75496640-75496640 17:77500558-77500558
39 SEPTIN9 NM_006640.4(SEPTIN9): c.1698G> A (p.Pro566=) single nucleotide variant Likely benign rs367775215 17:75494731-75494731 17:77498649-77498649
40 SEPTIN9 NM_006640.4(SEPTIN9): c.*1570dup duplication Likely benign rs530609750 17:75496310-75496310 17:77500228-77500228
41 SEPTIN9 NM_006640.4(SEPTIN9): c.*479C> A single nucleotide variant Likely benign rs28364841 17:75495219-75495219 17:77499137-77499137
42 SEPTIN9 NM_006640.4(SEPTIN9): c.*573C> G single nucleotide variant Likely benign rs527593353 17:75495313-75495313 17:77499231-77499231
43 SEPTIN9 NM_006640.4(SEPTIN9): c.*1896A> G single nucleotide variant Likely benign rs189204974 17:75496636-75496636 17:77500554-77500554
44 SEPTIN9 NM_006640.4(SEPTIN9): c.*45C> T single nucleotide variant Likely benign rs756589796 17:75494785-75494785 17:77498703-77498703
45 SEPTIN9 NM_006640.4(SEPTIN9): c.*54_*55dup duplication Likely benign rs5822173 17:75494794-75494795 17:77498712-77498713
46 SEPTIN9 NM_006640.4(SEPTIN9): c.987C> T (p.His329=) single nucleotide variant Likely benign rs200363929 17:75483633-75483633 17:77487551-77487551
47 SEPTIN9 NM_006640.4(SEPTIN9): c.860-4C> T single nucleotide variant Likely benign rs199809734 17:75483502-75483502 17:77487420-77487420
48 SEPTIN9 NM_006640.4(SEPTIN9): c.-306C> T single nucleotide variant Likely benign rs530024170 17:75316103-75316103 17:77320021-77320021
49 SEPTIN9 NM_006640.4(SEPTIN9): c.*1639C> G single nucleotide variant Likely benign rs539303139 17:75496379-75496379 17:77500297-77500297
50 SEPTIN9 NM_006640.4(SEPTIN9): c.-768T> G single nucleotide variant Likely benign rs370236963 17:75315641-75315641 17:77319559-77319559

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

74
# Symbol AA change Variation ID SNP ID
1 SEPTIN9 p.Arg106Trp VAR_033101 rs80338761
2 SEPTIN9 p.Ser111Phe VAR_033102 rs80338762

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

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