HNA
MCID: AMY086
MIFTS: 38

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 58 30 13 6 74
Hereditary Neuralgic Amyotrophy 25 54 26 76 38 6
Neuritis with Brachial Predilection 58 25 54 26 76
Hereditary Brachial Plexus Neuropathy 25 54 26 76
Brachial Plexus Neuritis 26 60 74
Neuralgic Amyotrophy 26 60 74
Napb 58 26 76
Hna 58 26 76
Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus 58 54
Brachial Plexus Neuropathy, Hereditary 58 54
Brachial Neuralgia 26 74
Hereditary Neuralgic Amyotrophy with Predilection for Brachial Plexus 76
Heredofamilial Neuritis with Brachial Plexus Predilection 26
Mononeuritis Multiplex with Brachial Predilection 60
Neuritis with Brachial Predilection; Napb 58
Familial Brachial Plexus Neuritis 26
Immune Brachial Plexus Neuropathy 60
Amyotrophy, Neuralgic, Hereditary 41
Acute Brachial Plexus Neuritis 60
Neuralgic Shoulder Amyotrophy 60
Shoulder Girdle Neuropathy 26
Acute Brachial Neuritis 74
Amyotrophic Neuralgia 26
Brachial Neuritis 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
amyotrophy, hereditary neuralgic:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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: 60  
Rare neurological diseases


Summaries for Amyotrophy, Hereditary Neuralgic

NIH Rare Diseases : 54 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.

MalaCards based summary : Amyotrophy, Hereditary Neuralgic, also known as hereditary neuralgic amyotrophy, is related to parsonage turner syndrome and radiation induced brachial plexopathy. An important gene associated with Amyotrophy, Hereditary Neuralgic is SEPTIN9 (Septin 9). Affiliated tissues include skin, eye and skeletal muscle, and related phenotypes are muscle weakness and arthralgia

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 72)
# Related Disease Score Top Affiliating Genes
1 parsonage turner syndrome 12.3
2 radiation induced brachial plexopathy 11.3
3 neurodegeneration with brain iron accumulation 6 11.3
4 brachial plexus neuritis 10.9
5 neuropathy 10.6
6 turner syndrome 10.5
7 neuritis 10.4
8 neuropathy, hereditary, with liability to pressure palsies 10.4
9 haemophilus influenzae 10.3
10 pfeiffer syndrome 10.3
11 arthritis 10.3
12 mononeuropathy 10.3
13 brachial plexus neuropathy 10.3
14 mononeuritis multiplex 10.2
15 helix syndrome 10.2
16 chickenpox 10.2
17 amyotrophic neuralgia 10.2
18 facioscapulohumeral muscular dystrophy 1 10.1
19 rheumatoid arthritis 10.1
20 osteoid osteoma 10.1
21 muscle hypertrophy 10.1
22 dengue virus 10.1
23 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
24 dengue disease 10.1
25 infective endocarditis 10.1
26 endocarditis 10.1
27 tetanus 10.1
28 cauda equina syndrome 10.1
29 lyme disease 10.1
30 ehlers-danlos syndrome 10.1
31 sensory peripheral neuropathy 10.1
32 polyradiculopathy 10.1
33 median neuropathy 10.1
34 herpes zoster 10.1
35 amyloidosis 10.1
36 muscular dystrophy 10.1
37 al amyloidosis 10.1
38 hashimoto encephalopathy 10.1
39 notalgia paresthetica 10.1
40 neuropathy - hereditary 10.1
41 cytomegalovirus infection 10.1
42 encephalopathy 10.1
43 hepatitis 10.1
44 congenital cataracts, facial dysmorphism, and neuropathy 10.0
45 gastric ulcer 10.0
46 connective tissue disease 10.0
47 acute respiratory distress syndrome 10.0
48 cleft palate, isolated 10.0
49 endometriosis 10.0
50 vasculitis 10.0

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
3 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
4 polyneuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001271
5 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
6 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
7 paresthesia 60 33 frequent (33%) Frequent (79-30%) HP:0003401
8 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
9 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
10 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
11 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
12 acrocyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001063
13 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
14 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
15 round face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000311
16 hyporeflexia 33 occasional (7.5%) HP:0001265
17 peripheral neuropathy 60 33 Occasional (29-5%) HP:0009830
18 low-set ears 33 HP:0000369
19 ptosis 33 HP:0000508
20 depressed nasal bridge 33 HP:0005280
21 skeletal muscle atrophy 33 HP:0003202
22 epicanthus 33 HP:0000286
23 deeply set eye 33 HP:0000490
24 upslanted palpebral fissure 33 HP:0000582
25 blepharophimosis 33 HP:0000581
26 hypotelorism 33 HP:0000601
27 facial asymmetry 33 HP:0000324
28 axonal degeneration 33 HP:0040078
29 peripheral axonal degeneration 33 HP:0000764
30 brachial plexus neuropathy 33 HP:0045054

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SEPTIN9

Anatomical Context for Amyotrophy, Hereditary Neuralgic

MalaCards organs/tissues related to Amyotrophy, Hereditary Neuralgic:

42
Skin, Eye, Skeletal Muscle, Brain

Publications for Amyotrophy, Hereditary Neuralgic

Articles related to Amyotrophy, Hereditary Neuralgic:

(show all 37)
# Title Authors Year
1
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study. ( 30019529 )
2019
2
Pediatric Hereditary Neuralgic Amyotrophy: Successful Treatment With Intravenous Immunoglobulin and Insights Into SEPT9 Pathogenesis. ( 28503616 )
2016
3
Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene. ( 22981636 )
2013
4
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. ( 19939853 )
2010
5
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation. ( 20019224 )
2010
6
Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis). ( 19588414 )
2009
7
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. ( 19139049 )
2009
8
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. ( 19451530 )
2009
9
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. ( 18492087 )
2008
10
SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. ( 17546647 )
2007
11
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. ( 16775374 )
2006
12
Histology of hereditary neuralgic amyotrophy. ( 15716548 )
2005
13
Mutations in SEPT9 cause hereditary neuralgic amyotrophy. ( 16186812 )
2005
14
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy. ( 15052627 )
2004
15
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. ( 11935323 )
2002
16
Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy. ( 11245726 )
2001
17
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). ( 11409865 )
2001
18
Hereditary neuralgic amyotrophy. ( 11523561 )
2001
19
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous. ( 11697522 )
2001
20
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. ( 11739810 )
2001
21
Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium. ( 10996784 )
2000
22
The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? ( 10734003 )
2000
23
Hereditary neuralgic amyotrophy: mutation analysis of candidate genes. ( 10586268 )
1999
24
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25. ( 10602368 )
1999
25
Hereditary Neuralgic Amyotrophy: Mutation Analysis of Candidate Genes. ( 29086982 )
1999
26
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
27
Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features -- a case of hereditary neuralgic amyotrophy. ( 9237508 )
1997
28
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. ( 9150742 )
1997
29
Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q. ( 9191796 )
1997
30
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. ( 9439655 )
1997
31
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. ( 8780104 )
1996
32
Hereditary neuralgic amyotrophy. ( 8894409 )
1996
33
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. ( 7991107 )
1994
34
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. ( 7991108 )
1994
35
Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy. ( 8429311 )
1993
36
Hereditary neuralgic amyotrophy. Clinical, genetic, electrophysiological and histopathological studies. ( 6668475 )
1983
37
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:

76
# Symbol AA change Variation ID SNP ID
1 SEPTIN9 p.Arg106Trp VAR_033101 rs80338761
2 SEPTIN9 p.Ser111Phe VAR_033102 rs80338762

ClinVar genetic disease variations for Amyotrophy, Hereditary Neuralgic:

6 (show top 50) (show all 199)
# Gene Variation Type Significance SNP ID Assembly Location
1 SEPTIN9 NM_006640.4(SEPTIN9): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs80338761 GRCh37 Chromosome 17, 75398380: 75398380
2 SEPTIN9 NM_006640.4(SEPTIN9): c.262C> T (p.Arg88Trp) single nucleotide variant Pathogenic rs80338761 GRCh38 Chromosome 17, 77402298: 77402298
3 SEPTIN9 NM_006640.4(SEPTIN9): c.278C> T (p.Ser93Phe) single nucleotide variant Pathogenic rs80338762 GRCh37 Chromosome 17, 75398396: 75398396
4 SEPTIN9 NM_006640.4(SEPTIN9): c.278C> T (p.Ser93Phe) single nucleotide variant Pathogenic rs80338762 GRCh38 Chromosome 17, 77402314: 77402314
5 SEPTIN9 NM_006640.4(SEPTIN9): c.-134G> C single nucleotide variant Pathogenic rs80338760 GRCh37 Chromosome 17, 75316275: 75316275
6 SEPTIN9 NM_006640.4(SEPTIN9): c.-134G> C single nucleotide variant Pathogenic rs80338760 GRCh38 Chromosome 17, 77320193: 77320193
7 SEPTIN9 SEPT9, 38-KB DUP duplication Pathogenic
8 SEPTIN9 NM_006640.4(SEPTIN9): c.-366G> A single nucleotide variant Uncertain significance rs769442066 GRCh37 Chromosome 17, 75316043: 75316043
9 SEPTIN9 NM_006640.4(SEPTIN9): c.-780G> C single nucleotide variant Likely benign rs534426016 GRCh38 Chromosome 17, 77319547: 77319547
10 SEPTIN9 NM_006640.4(SEPTIN9): c.-780G> C single nucleotide variant Likely benign rs534426016 GRCh37 Chromosome 17, 75315629: 75315629
11 SEPTIN9 NM_006640.4(SEPTIN9): c.-366G> A single nucleotide variant Uncertain significance rs769442066 GRCh38 Chromosome 17, 77319961: 77319961
12 SEPTIN9 NM_006640.4(SEPTIN9): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs781163314 GRCh38 Chromosome 17, 77402116: 77402116
13 SEPTIN9 NM_006640.4(SEPTIN9): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs781163314 GRCh37 Chromosome 17, 75398198: 75398198
14 SEPTIN9 NM_006640.4(SEPTIN9): c.380C> T (p.Pro127Leu) single nucleotide variant Benign rs34587622 GRCh38 Chromosome 17, 77402416: 77402416
15 SEPTIN9 NM_006640.4(SEPTIN9): c.380C> T (p.Pro127Leu) single nucleotide variant Benign rs34587622 GRCh37 Chromosome 17, 75398498: 75398498
16 SEPTIN9 NM_006640.4(SEPTIN9): c.484G> A (p.Ala162Thr) single nucleotide variant Uncertain significance rs199861986 GRCh37 Chromosome 17, 75398602: 75398602
17 SEPTIN9 NM_006640.4(SEPTIN9): c.484G> A (p.Ala162Thr) single nucleotide variant Uncertain significance rs199861986 GRCh38 Chromosome 17, 77402520: 77402520
18 SEPTIN9 NM_006640.4(SEPTIN9): c.858C> T (p.Val286=) single nucleotide variant Likely benign rs187657144 GRCh38 Chromosome 17, 77482334: 77482334
19 SEPTIN9 NM_006640.4(SEPTIN9): c.858C> T (p.Val286=) single nucleotide variant Likely benign rs187657144 GRCh37 Chromosome 17, 75478416: 75478416
20 SEPTIN9 NM_006640.4(SEPTIN9): c.988G> A (p.Asp330Asn) single nucleotide variant Uncertain significance rs201560726 GRCh38 Chromosome 17, 77487552: 77487552
21 SEPTIN9 NM_006640.4(SEPTIN9): c.988G> A (p.Asp330Asn) single nucleotide variant Uncertain significance rs201560726 GRCh37 Chromosome 17, 75483634: 75483634
22 SEPTIN9 NM_006640.4(SEPTIN9): c.1071-10C> T single nucleotide variant Likely benign rs199872443 GRCh38 Chromosome 17, 77488717: 77488717
23 SEPTIN9 NM_006640.4(SEPTIN9): c.1071-10C> T single nucleotide variant Likely benign rs199872443 GRCh37 Chromosome 17, 75484799: 75484799
24 SEPTIN9 NM_006640.4(SEPTIN9): c.1284G> A (p.Ala428=) single nucleotide variant Conflicting interpretations of pathogenicity rs768871202 GRCh38 Chromosome 17, 77490817: 77490817
25 SEPTIN9 NM_006640.4(SEPTIN9): c.1284G> A (p.Ala428=) single nucleotide variant Conflicting interpretations of pathogenicity rs768871202 GRCh37 Chromosome 17, 75486899: 75486899
26 SEPTIN9 NM_006640.4(SEPTIN9): c.1392G> A (p.Ser464=) single nucleotide variant Likely benign rs80015943 GRCh38 Chromosome 17, 77492686: 77492686
27 SEPTIN9 NM_006640.4(SEPTIN9): c.1392G> A (p.Ser464=) single nucleotide variant Likely benign rs80015943 GRCh37 Chromosome 17, 75488768: 75488768
28 SEPTIN9 NM_006640.4(SEPTIN9): c.*5dupC duplication Uncertain significance rs886053486 GRCh38 Chromosome 17, 77498663: 77498663
29 SEPTIN9 NM_006640.4(SEPTIN9): c.*5dupC duplication Uncertain significance rs886053486 GRCh37 Chromosome 17, 75494745: 75494745
30 SEPTIN9 NM_006640.4(SEPTIN9): c.*657T> C single nucleotide variant Benign rs9038 GRCh37 Chromosome 17, 75495397: 75495397
31 SEPTIN9 NM_006640.4(SEPTIN9): c.*657T> C single nucleotide variant Benign rs9038 GRCh38 Chromosome 17, 77499315: 77499315
32 SEPTIN9 NM_006640.4(SEPTIN9): c.*709C> T single nucleotide variant Likely benign rs146084702 GRCh37 Chromosome 17, 75495449: 75495449
33 SEPTIN9 NM_006640.4(SEPTIN9): c.*709C> T single nucleotide variant Likely benign rs146084702 GRCh38 Chromosome 17, 77499367: 77499367
34 SEPTIN9 NM_006640.4(SEPTIN9): c.*718C> G single nucleotide variant Likely benign rs370900865 GRCh37 Chromosome 17, 75495458: 75495458
35 SEPTIN9 NM_006640.4(SEPTIN9): c.*718C> G single nucleotide variant Likely benign rs370900865 GRCh38 Chromosome 17, 77499376: 77499376
36 SEPTIN9 NM_006640.4(SEPTIN9): c.*989T> A single nucleotide variant Uncertain significance rs879645823 GRCh38 Chromosome 17, 77499647: 77499647
37 SEPTIN9 NM_006640.4(SEPTIN9): c.*989T> A single nucleotide variant Uncertain significance rs879645823 GRCh37 Chromosome 17, 75495729: 75495729
38 SEPTIN9 NM_006640.4(SEPTIN9): c.*1130_*1131insAAG insertion Uncertain significance rs886053496 GRCh38 Chromosome 17, 77499788: 77499789
39 SEPTIN9 NM_006640.4(SEPTIN9): c.*1130_*1131insAAG insertion Uncertain significance rs886053496 GRCh37 Chromosome 17, 75495870: 75495871
40 SEPTIN9 NM_006640.4(SEPTIN9): c.*1720T> C single nucleotide variant Benign rs445507 GRCh38 Chromosome 17, 77500378: 77500378
41 SEPTIN9 NM_006640.4(SEPTIN9): c.*1720T> C single nucleotide variant Benign rs445507 GRCh37 Chromosome 17, 75496460: 75496460
42 SEPTIN9 NM_006640.4(SEPTIN9): c.*1896A> G single nucleotide variant Likely benign rs189204974 GRCh38 Chromosome 17, 77500554: 77500554
43 SEPTIN9 NM_006640.4(SEPTIN9): c.*1896A> G single nucleotide variant Likely benign rs189204974 GRCh37 Chromosome 17, 75496636: 75496636
44 SEPTIN9 NM_006640.4(SEPTIN9): c.-318C> T single nucleotide variant Benign rs75147264 GRCh38 Chromosome 17, 77320009: 77320009
45 SEPTIN9 NM_006640.4(SEPTIN9): c.-318C> T single nucleotide variant Benign rs75147264 GRCh37 Chromosome 17, 75316091: 75316091
46 SEPTIN9 NM_006640.4(SEPTIN9): c.223G> T (p.Val75Leu) single nucleotide variant Likely benign rs774560543 GRCh38 Chromosome 17, 77402259: 77402259
47 SEPTIN9 NM_006640.4(SEPTIN9): c.223G> T (p.Val75Leu) single nucleotide variant Likely benign rs774560543 GRCh37 Chromosome 17, 75398341: 75398341
48 SEPTIN9 NM_006640.4(SEPTIN9): c.388C> T (p.Arg130Trp) single nucleotide variant Likely benign rs544797046 GRCh38 Chromosome 17, 77402424: 77402424
49 SEPTIN9 NM_006640.4(SEPTIN9): c.388C> T (p.Arg130Trp) single nucleotide variant Likely benign rs544797046 GRCh37 Chromosome 17, 75398506: 75398506
50 SEPTIN9 NM_006640.4(SEPTIN9): c.656G> A (p.Arg219Gln) single nucleotide variant Likely benign rs200031107 GRCh37 Chromosome 17, 75398774: 75398774

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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