HNA
MCID: AMY086
MIFTS: 48

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 56 29 13 6 71
Hereditary Neuralgic Amyotrophy 52 25 73 36 6
Neuralgic Amyotrophy 25 58 54 71 32
Neuritis with Brachial Predilection 56 52 25 73
Hereditary Brachial Plexus Neuropathy 52 25 73
Brachial Plexus Neuritis 25 58 71
Napb 56 25 73
Hna 56 25 73
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 56 52
Brachial Plexus Neuropathy, Hereditary 56 52
Brachial Neuralgia 25 71
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 73
Heredofamilial Neuritis with Brachial Plexus Predilection 25
Mononeuritis Multiplex with Brachial Predilection 58
Neuritis with Brachial Predilection; Napb 56
Familial Brachial Plexus Neuritis 25
Immune Brachial Plexus Neuropathy 58
Amyotrophy, Neuralgic, Hereditary 39
Acute Brachial Plexus Neuritis 58
Neuralgic Shoulder Amyotrophy 58
Shoulder Girdle Neuropathy 25
Acute Brachial Neuritis 71
Amyotrophic Neuralgia 25
Brachial Neuritis 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 162100
KEGG 36 H01131
ICD10 32 G54.5
ICD10 via Orphanet 33 G54.5
UMLS via Orphanet 72 C0221759 C1510479
Orphanet 58 ORPHA2901
MedGen 41 C1834304
UMLS 71 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 Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and skeletal muscle, and related phenotypes are muscle weakness and arthralgia

NIH Rare Diseases : 52 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 : 56 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 : 36 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 : 73 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 : 74 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

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 155)
# Related Disease Score Top Affiliating Genes
1 radiation induced brachial plexopathy 11.5
2 neurodegeneration with brain iron accumulation 6 11.2
3 combat disorder 11.2
4 brachial plexus neuritis 11.1
5 mononeuropathy 10.6
6 plexopathy 10.6
7 hepatitis 10.5
8 haemophilus influenzae 10.5
9 cleft palate, isolated 10.4
10 osteomyelitis 10.4
11 polyneuropathy 10.4
12 muscular atrophy 10.4
13 amyotrophic neuralgia 10.4
14 radiculopathy 10.4
15 nervous system disease 10.4
16 brachial plexus neuropathy 10.3
17 gonadal dysgenesis 10.3
18 turner syndrome 10.3
19 cauda equina syndrome 10.3
20 lyme disease 10.3
21 guillain-barre syndrome 10.3
22 mononeuritis multiplex 10.3
23 polyradiculopathy 10.3
24 neuromuscular disease 10.3
25 poliomyelitis 10.3
26 lung disease 10.3
27 cytomegalovirus infection 10.3
28 neuritis 10.3
29 encephalopathy 10.3
30 parsonage turner syndrome 10.3
31 trigeminal neuralgia 10.2
32 47,xyy 10.2
33 neuropathy, hereditary, with liability to pressure palsies 10.2
34 helix syndrome 10.2
35 neutropenia 10.2
36 vasculitis 10.2
37 hereditary neuropathies 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 spondylosis, cervical 10.1
45 chromosome 2q35 duplication syndrome 10.1
46 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
47 osteoid osteoma 10.1
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
49 muscle hypertrophy 10.1
50 tendinitis 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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
4 polyneuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001271
5 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
6 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
7 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
8 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
9 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
10 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
11 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
13 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
14 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
15 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
16 hyporeflexia 31 occasional (7.5%) HP:0001265
17 peripheral neuropathy 58 31 Occasional (29-5%) HP:0009830
18 low-set ears 31 HP:0000369
19 ptosis 31 HP:0000508
20 depressed nasal bridge 31 HP:0005280
21 skeletal muscle atrophy 31 HP:0003202
22 epicanthus 31 HP:0000286
23 deeply set eye 31 HP:0000490
24 upslanted palpebral fissure 31 HP:0000582
25 facial asymmetry 31 HP:0000324
26 blepharophimosis 31 HP:0000581
27 hypotelorism 31 HP:0000601
28 brachial plexus neuropathy 31 HP:0045054
29 axonal degeneration 31 HP:0040078
30 peripheral axonal degeneration 31 HP:0000764

Symptoms via clinical synopsis from OMIM:

56
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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 Neurotransmitter Agents Phase 4
3 Acetylcholine Release Inhibitors Phase 4
4 Botulinum Toxins Phase 4
5 Cholinergic Agents Phase 4
6
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
7 Anti-Inflammatory Agents Phase 2, Phase 3
8 Analgesics, Non-Narcotic Phase 2, Phase 3
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
10 Cyclooxygenase Inhibitors Phase 2, Phase 3
11 Antirheumatic Agents Phase 2, Phase 3
12 Analgesics Phase 2, Phase 3
13 4-phenylbutyric acid Phase 1, Phase 2
14 Vaccines
15 Immunologic Factors

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 Safety and Dose Escalating Study of Oral Sodium Phenylbutyrate in Subjects With Amyotrophic Lateral Sclerosis Completed NCT00107770 Phase 1, Phase 2 sodium phenylbutyrate
4 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)
5 Cervicobrachial Neuralgia and Sagital Balance of the Cervical Spine Unknown status NCT03397459
6 Longitudinal Experimental Study on ULNTT1 and Cervico-Thoracic Spine Motion Patterns Relationship Completed NCT02632357
7 The GRANVIA®-C Cervical Disc Prosthesis to Treat Symptomatic Degenerative Disc Diseases Completed NCT01518582
8 Hypoalgesic Effect of Median Nerve Neural Mobilization in Cervicobrachial Pain Compared to a Controlled Group Completed NCT02596815
9 Hypoalgesic Effect of Neural Mobilization in Cervicobrachial Pain Compared to a Controlled Group Completed NCT02595294
10 A Phase IV Study to Assess the Safety of Menveo Vaccine Being Used by HMO Subjects Aged 11-21 Years of Age Completed NCT01452464
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:

40
Eye, Skin, Skeletal Muscle, Lung, T Cells, Spinal Cord, Kidney

Publications for Amyotrophy, Hereditary Neuralgic

Articles related to Amyotrophy, Hereditary Neuralgic:

(show top 50) (show all 437)
# Title Authors PMID Year
1
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. 54 61 56 6
19451530 2009
2
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. 54 61 56 6
19139049 2009
3
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. 54 61 56 6
18492087 2008
4
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. 54 61 56 6
16186812 2005
5
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. 61 56
19939853 2010
6
Hereditary Neuralgic Amyotrophy 61 6
20301569 2008
7
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. 61 56
11935323 2002
8
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. 61 56
11739810 2001
9
Hereditary neuralgic amyotrophy. 61 56
11523561 2001
10
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). 61 56
11409865 2001
11
Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium. 61 56
10996784 2000
12
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. 61 56
9439655 1997
13
Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features -- a case of hereditary neuralgic amyotrophy. 61 56
9237508 1997
14
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. 61 56
9150742 1997
15
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. 61 56
8780104 1996
16
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. 61 56
7991107 1994
17
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. 61 56
7991108 1994
18
Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. 61 56
8429311 1993
19
Familial neuralgic amyotrophy. Report of three families with review of the literature. 61 56
4434174 1974
20
SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy. 56
19204161 2009
21
Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy--two genetically distinct disorders. 56
7630211 1995
22
Familial long thoracic nerve palsy: a manifestation of brachial plexus neuropathy. 56
3018625 1986
23
Hereditary recurrent brachial plexus neuropathy with dysmorphic features. 56
4003034 1985
24
The migrant sensory neuritis of Wartenberg. 56
6842194 1983
25
Hereditary recurrent brachial neuropathy. 56
4350683 1973
26
Natural history of brachial plexus neuropathy. Report on 99 patients. 56
4339239 1972
27
Familial brachial neuropathy. Two case reports with discussion. 56
4328303 1971
28
Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. 56
4297726 1968
29
Heredofamilial neuritis with brachial predilection. 56
14450651 1961
30
Heredofamilial mononeuritis multiplex with brachial predilection. 56
13837190 1960
31
Alternative splicing of sept9a and sept9b in zebrafish produces multiple mRNA transcripts expressed throughout development. 54 61
20502708 2010
32
Backpack palsy and other brachial plexus neuropathies in the military population. 61
31925878 2020
33
Neurologic complications of acute hepatitis E virus infection. 61
31806684 2020
34
Phrenic neuropathy water immersion dyspnea: Clinical findings and need for patient counseling. 61
31992683 2020
35
Extrahepatic manifestations of hepatitis E virus: An overview. 61
31601068 2020
36
Multiphasic presentation of neuralgic amyotrophy associated with hepatitis E virus infection. 61
31573093 2020
37
A rare presentation of neuralgic amyotrophy in a child and a review of recent literature. 61
31526173 2019
38
Update on classification, epidemiology, clinical phenotype and imaging of the nonsystemic vasculitic neuropathies. 61
31313704 2019
39
Suprascapular neuropathy: A review of 87 cases. 61
31294855 2019
40
Hourglass-like constriction neuropathy of the suprascapular nerve detected by high-resolution magnetic resonance neurography: report of three patients. 61
30747238 2019
41
Varied phenotypes and management of immune checkpoint inhibitor-associated neuropathies. 61
31405908 2019
42
Hepatitis E virus infections in patients with MS on oral disease-modifying treatment. 61
31454772 2019
43
Neuralgic Amyotrophy in a 66-year-old Hiker: a Case Report. 61
31762709 2019
44
Phrenic nerve palsy in patients with neuralgic amyotrophy: case series study. 61
31058474 2019
45
NA-CONTROL: a study protocol for a randomised controlled trial to compare specific outpatient rehabilitation that targets cerebral mechanisms through relearning motor control and uses self-management strategies to improve functional capability of the upper extremity, to usual care in patients with neuralgic amyotrophy. 61
31391076 2019
46
Reflections of patients and therapists on a multidisciplinary rehabilitation programme for persons with brachial plexus injuries. 61
29385821 2019
47
Nivolumab-induced neuralgic amyotrophy with hourglass-like constriction of the anterior interosseous nerve. 61
30809822 2019
48
Bilateral idiopathic neuralgic amyotrophy involving selective branches of peripheral nerves with a stepwise progression: A case report. 61
31083213 2019
49
Brachial Plexopathies: Update on Treatment. 61
31030283 2019
50
Herpes zoster increased risk of neuralgic amyotrophy: a retrospective, population-based matched cohort study. 61
30397829 2019

Variations for Amyotrophy, Hereditary Neuralgic

ClinVar genetic disease variations for Amyotrophy, Hereditary Neuralgic:

6 (show top 50) (show all 100) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEPTIN9 NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)SNV Pathogenic 5863 rs80338761 17:75398380-75398380 17:77402298-77402298
2 SEPTIN9 NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe)SNV Pathogenic 5864 rs80338762 17:75398396-75398396 17:77402314-77402314
3 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12996G>CSNV Pathogenic 5865 rs80338760 17:75316275-75316275 17:77320193-77320193
4 SEPTIN9 SEPT9, 38-KB DUPduplication Pathogenic 5866
5 SEPTIN9 NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=)SNV Conflicting interpretations of pathogenicity 325561 rs768871202 17:75486899-75486899 17:77490817-77490817
6 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1130_*1131insAAGinsertion Uncertain significance 325607 rs886053496 17:75495868-75495869 17:77499786-77499787
7 SEPTIN9 NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn)SNV Uncertain significance 325554 rs201560726 17:75483634-75483634 17:77487552-77487552
8 SEPTIN9 NM_001113491.2(SEPTIN9):c.*5dupduplication Uncertain significance 325570 rs886053486 17:75494743-75494744 17:77498661-77498662
9 SEPTIN9 NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln)SNV Uncertain significance 325537 rs781163314 17:75398198-75398198 17:77402116-77402116
10 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12764G>ASNV Uncertain significance 325531 rs769442066 17:75316043-75316043 17:77319961-77319961
11 SEPTIN9 NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr)SNV Uncertain significance 325546 rs199861986 17:75398602-75398602 17:77402520-77402520
12 SEPTIN9 NM_001113491.2(SEPTIN9):c.*989T>ASNV Uncertain significance 325605 rs879645823 17:75495729-75495729 17:77499647-77499647
13 SEPTIN9 NM_001113491.2(SEPTIN9):c.*5_*6insGinsertion Uncertain significance 325571 rs1555681838 17:75494745-75494746 17:77498663-77498664
14 SEPTIN9 NM_001113491.2(SEPTIN9):c.*11dupduplication Uncertain significance 325574 rs1555681846 17:75494750-75494751 17:77498668-77498669
15 SEPTIN9 NM_001113491.2(SEPTIN9):c.*20dupduplication Uncertain significance 325576 rs886053490 17:75494755-75494756 17:77498673-77498674
16 SEPTIN9 NM_001113491.2(SEPTIN9):c.*417C>TSNV Uncertain significance 325587 rs758432689 17:75495157-75495157 17:77499075-77499075
17 SEPTIN9 NM_001113491.2(SEPTIN9):c.*586A>GSNV Uncertain significance 325591 rs886053492 17:75495326-75495326 17:77499244-77499244
18 SEPTIN9 NM_001113491.2(SEPTIN9):c.*759A>GSNV Uncertain significance 325596 rs886053493 17:75495499-75495499 17:77499417-77499417
19 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1204A>GSNV Uncertain significance 325608 rs568078300 17:75495944-75495944 17:77499862-77499862
20 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1724G>ASNV Uncertain significance 325615 rs886053498 17:75496464-75496464 17:77500382-77500382
21 SEPTIN9 NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln)SNV Uncertain significance 325538 rs886053485 17:75398222-75398222 17:77402140-77402140
22 SEPTIN9 NM_001113491.2(SEPTIN9):c.*14dupduplication Uncertain significance 325575 rs886053488 17:75494751-75494752 17:77498669-77498670
23 SEPTIN9 NM_001113491.2(SEPTIN9):c.*903C>TSNV Uncertain significance 325602 rs886053495 17:75495643-75495643 17:77499561-77499561
24 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1292G>ASNV Uncertain significance 325610 rs747361957 17:75496032-75496032 17:77499950-77499950
25 SEPTIN9 NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met)SNV Uncertain significance 325540 rs11537706 17:75398266-75398266 17:77402184-77402184
26 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12407G>ASNV Uncertain significance 325529 rs765972765 17:75315686-75315686 17:77319604-77319604
27 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12793G>ASNV Uncertain significance 325532 rs367749793 17:75316072-75316072 17:77319990-77319990
28 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+13013GAG[6]short repeat Uncertain significance 325535 rs372287642 17:75316292-75316297 17:77320210-77320215
29 SEPTIN9 NM_001113491.2(SEPTIN9):c.322A>G (p.Thr108Ala)SNV Uncertain significance 325542 rs746996757 17:75398386-75398386 17:77402304-77402304
30 SEPTIN9 NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=)SNV Uncertain significance 325545 rs763954299 17:75398583-75398583 17:77402501-77402501
31 SEPTIN9 NM_001113491.2(SEPTIN9):c.819G>A (p.Pro273=)SNV Uncertain significance 325549 rs751622773 17:75478323-75478323 17:77482241-77482241
32 SEPTIN9 NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=)SNV Uncertain significance 325560 rs772005682 17:75486881-75486881 17:77490799-77490799
33 SEPTIN9 NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=)SNV Uncertain significance 325567 rs373520148 17:75493407-75493407 17:77497325-77497325
34 SEPTIN9 NM_001113491.2(SEPTIN9):c.*9dupduplication Uncertain significance 325572 rs886053487 17:75494746-75494747 17:77498664-77498665
35 SEPTIN9 NM_001113491.2(SEPTIN9):c.*867G>ASNV Uncertain significance 325600 rs886053494 17:75495607-75495607 17:77499525-77499525
36 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1463G>TSNV Uncertain significance 325611 rs557737230 17:75496203-75496203 17:77500121-77500121
37 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12311C>TSNV Likely benign 369232 rs3809703 17:75315590-75315590 17:77319508-77319508
38 SEPTIN9 NM_001113491.2(SEPTIN9):c.*20C>ASNV Likely benign 325577 rs373598188 17:75494760-75494760 17:77498678-77498678
39 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12362T>GSNV Likely benign 325528 rs370236963 17:75315641-75315641 17:77319559-77319559
40 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1639C>GSNV Likely benign 325613 rs539303139 17:75496379-75496379 17:77500297-77500297
41 SEPTIN9 NM_001113491.2(SEPTIN9):c.*454G>ASNV Likely benign 325588 rs573267105 17:75495194-75495194 17:77499112-77499112
42 SEPTIN9 NM_001113491.2(SEPTIN9):c.*207G>ASNV Likely benign 325582 rs560243481 17:75494947-75494947 17:77498865-77498865
43 SEPTIN9 NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=)SNV Likely benign 325547 rs559745979 17:75398664-75398664 17:77402582-77402582
44 SEPTIN9 NM_001113491.2(SEPTIN9):c.1125-5C>TSNV Likely benign 325558 rs73377525 17:75484804-75484804 17:77488722-77488722
45 SEPTIN9 NM_001113491.2(SEPTIN9):c.1477-9G>ASNV Likely benign 325563 rs145143440 17:75489053-75489053 17:77492971-77492971
46 SEPTIN9 NM_001113491.2(SEPTIN9):c.1573+10G>ASNV Likely benign 325565 rs143783047 17:75489168-75489168 17:77493086-77493086
47 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1847G>ASNV Likely benign 325616 rs535971752 17:75496587-75496587 17:77500505-77500505
48 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1900A>GSNV Likely benign 325618 rs180847518 17:75496640-75496640 17:77500558-77500558
49 SEPTIN9 NM_001113491.2(SEPTIN9):c.76+12824C>TSNV Likely benign 325534 rs530024170 17:75316103-75316103 17:77320021-77320021
50 SEPTIN9 NM_001113491.2(SEPTIN9):c.*1570dupduplication Likely benign 325612 rs530609750 17:75496308-75496309 17:77500226-77500227

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

73
# 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

Sources for Amyotrophy, Hereditary Neuralgic

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