HNA
MCID: HRD030
MIFTS: 50

Hereditary Neuralgic Amyotrophy (HNA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases categories
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Summaries for Hereditary Neuralgic Amyotrophy

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms.  attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.).  secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. affected members in some families may share additional distinct physical and facial characteristics. hereditary neuralgic amyotrophy can be caused by mutations in the sept9 gene.  it is inherited in an autosomal dominant fashion. last updated: 5/18/2011

MalaCards: Hereditary Neuralgic Amyotrophy, also known as hereditary brachial plexus neuropathy, is related to hereditary neuropathy with liability to pressure palsies and neuritis, and has symptoms including neuritis/polyneuritis/multineuritis, round face and cleft lip and palate. An important gene associated with Hereditary Neuralgic Amyotrophy is SEPT9 (septin 9), and among its related pathways is Bacterial invasion of epithelial cells. The compound cysteine have been mentioned in the context of this disorder. Affiliated tissues include lung.

Genetics Home Reference:21 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:65 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

Description from OMIM:47 162100

GeneReviews summary for hna

Aliases & Classifications for Hereditary Neuralgic Amyotrophy

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21Genetics Home Reference, 49Orphanet, 62UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

49
brachial plexus neuritis:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 6-9/10000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

hereditary neuralgic amyotrophy 19 43 20 22 21
hereditary brachial plexus neuropathy 19 43 21
neuritis with brachial predilection 19 43 21
brachial plexus neuritis 21 49 62
amyotrophy, hereditary neuralgic 47 62
neuralgic amyotrophy 21 49
brachial neuralgia 21 62
amyotrophy, hereditary neuralgic, with predilection for brachial plexus 43
heredofamilial neuritis with brachial plexus predilection 21
mononeuritis multiplex with brachial predilection 49
brachial plexus neuropathy, hereditary 43
immune brachial plexus neuropathy 49
familial brachial plexus neuritis 21
acute brachial plexus neuritis 49
neuralgic shoulder amyotrophy 49
shoulder girdle neuropathy 21
amyotrophic neuralgia 21
brachial neuritis 21
winged scapula 49
serum neuritis 49
napb 21
hna 21


External Ids:

SNOMED-CT via Orphanet59 72893007
OMIM47 162100
ICD10 via Orphanet26 G54.5
UMLS via Orphanet63 C0221759
ICD1025 G58.7

Related Diseases for Hereditary Neuralgic Amyotrophy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Neuralgic Amyotrophy:



Diseases related to hereditary neuralgic amyotrophy

Symptoms for Hereditary Neuralgic Amyotrophy

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

162100

Clinical features from OMIM:

162100

Symptoms:

49 (show all 15)
  • neuritis/polyneuritis/multineuritis
  • round face
  • cleft lip and palate
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • microstomia/little mouth
  • peripheral neuropathy
  • abnormal emg/electromyogram/electropmyography
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • articular/joint pain/arthralgia
  • short stature/dwarfism/nanism
  • muscle weakness/flaccidity
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • elocution disorders/dysarthria/dysphonia
  • sleep and vigilance disorders

Drugs & Therapeutics for Hereditary Neuralgic Amyotrophy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hereditary Neuralgic Amyotrophy

Search NIH Clinical Center for Hereditary Neuralgic Amyotrophy

Genetic Tests for Hereditary Neuralgic Amyotrophy

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Neuralgic Amyotrophy:

id Genetic test Affiliating Genes
1 Hereditary Neuralgic Amyotrophy20 22 SEPT9

Anatomical Context for Hereditary Neuralgic Amyotrophy

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33MalaCards
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MalaCards organs/tissues related to Hereditary Neuralgic Amyotrophy:

33
Lung

Animal Models for Hereditary Neuralgic Amyotrophy or affiliated genes

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Publications for Hereditary Neuralgic Amyotrophy

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52PubMed
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Articles related to Hereditary Neuralgic Amyotrophy:

(show all 34)
idTitleAuthorsYear
1
Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene. (22981636)
2013
2
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation. (20019224)
2010
3
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. (19939853)
2010
4
SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. (19451530)
2009
5
Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis). (19588414)
2009
6
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. (19139049)
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
Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy. (11245726)
2001
16
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy. (11739810)
2001
17
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). (11409865)
2001
18
Hereditary neuralgic amyotrophy. (11523561)
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
Hereditary neuralgic amyotrophy: mutation analysis of candidate genes. (10586268)
1999
22
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25. (10602368)
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
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. (9150742)
1997
25
Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q. (9191796)
1997
26
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. (9439655)
1997
27
Hereditary neuralgic amyotrophy. (8894409)
1996
28
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. (8780104)
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 Hereditary Neuralgic Amyotrophy

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Neuralgic Amyotrophy:

64
id Symbol AA change Variation ID SNP ID
1SEPT9p.Arg106TrpVAR_033101
2SEPT9p.Ser111PheVAR_033102

Clinvar genetic disease variations for Hereditary Neuralgic Amyotrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
19-SepNM_006640.4(SEPT9): c.262C> T (p.Arg88Trp)single nucleotide variantPathogenicrs80338761GRCh37Chr 17, 75398380: 75398380
29-SepNM_006640.4(SEPT9): c.278C> T (p.Ser93Phe)single nucleotide variantPathogenicrs80338762GRCh37Chr 17, 75398396: 75398396
39-SepNM_006640.4(SEPT9): c.-134G> Csingle nucleotide variantPathogenicrs80338760GRCh37Chr 17, 75316275: 75316275
49-SepSEPT9, 38-KB DUPduplicationPathogenic

Expression for genes affiliated with Hereditary Neuralgic Amyotrophy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Neuralgic Amyotrophy

Search GEO for disease gene expression data for Hereditary Neuralgic Amyotrophy.

Pathways for genes affiliated with Hereditary Neuralgic Amyotrophy

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50PathCards, 30KEGG
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Pathways related to Hereditary Neuralgic Amyotrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SEPT9, SEPT11

Compounds for genes affiliated with Hereditary Neuralgic Amyotrophy

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45Novoseek
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Compounds related to Hereditary Neuralgic Amyotrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine458.4TIMP2, PMP22, CYGB, SPHK1

GO Terms for genes affiliated with Hereditary Neuralgic Amyotrophy

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16Gene Ontology
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Cellular components related to Hereditary Neuralgic Amyotrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.7SEPT9, SEPT11
2motile ciliumGO:0315149.1SEPT4, TIMP2

Biological processes related to Hereditary Neuralgic Amyotrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell divisionGO:0513019.7SEPT9, SEPT11
2protein heterooligomerizationGO:0512919.4SEPT9, SEPT11
3positive regulation of protein ubiquitinationGO:0313988.9SEPT4, SPHK1

Molecular functions related to Hereditary Neuralgic Amyotrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:0055258.2SEPT9, SEPT4, SEPT11, RTKN
2protein bindingGO:0055156.6RTKN, PMP22, TIMP2, SEPT11, SEPT4, SEPT9

Products for genes affiliated with Hereditary Neuralgic Amyotrophy

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  • Antibodies
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Sources for Hereditary Neuralgic Amyotrophy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet