HNA
MCID: HRD030
MIFTS: 50

Hereditary Neuralgic Amyotrophy (HNA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases categories

Summaries for Hereditary Neuralgic Amyotrophy

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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.

Wikipedia:66 Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and... more...

Description from OMIM:48 162100

GeneReviews summary for hna

Aliases & Classifications for Hereditary Neuralgic Amyotrophy

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22Genetics Home Reference, 50Orphanet, 63UMLS, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
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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):

50
brachial plexus neuritis:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 6-9/10000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

hereditary neuralgic amyotrophy 20 44 21 23 22
hereditary brachial plexus neuropathy 20 44 22
neuritis with brachial predilection 20 44 22
brachial plexus neuritis 22 50 63
amyotrophy, hereditary neuralgic 48 63
neuralgic amyotrophy 22 50
brachial neuralgia 22 63
amyotrophy, hereditary neuralgic, with predilection for brachial plexus 44
heredofamilial neuritis with brachial plexus predilection 22
mononeuritis multiplex with brachial predilection 50
brachial plexus neuropathy, hereditary 44
immune brachial plexus neuropathy 50
familial brachial plexus neuritis 22
acute brachial plexus neuritis 50
neuralgic shoulder amyotrophy 50
shoulder girdle neuropathy 22
amyotrophic neuralgia 22
brachial neuritis 22
winged scapula 50
serum neuritis 50
napb 22
hna 22


External Ids:

SNOMED-CT via Orphanet60 72893007
OMIM48 162100
ICD10 via Orphanet27 G54.5
UMLS via Orphanet64 C0221759
ICD1026 G58.7

Related Diseases for Hereditary Neuralgic Amyotrophy

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

162100

Clinical features from OMIM:

162100

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hereditary Neuralgic Amyotrophy

Search CenterWatch for Hereditary Neuralgic Amyotrophy

Genetic Tests for Hereditary Neuralgic Amyotrophy

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21GeneTests, 23GTR
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Genetic tests related to Hereditary Neuralgic Amyotrophy:

id Genetic test Affiliating Genes
1 Hereditary Neuralgic Amyotrophy21 23 SEPT9

Anatomical Context for Hereditary Neuralgic Amyotrophy

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34MalaCards
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MalaCards organs/tissues related to Hereditary Neuralgic Amyotrophy:

34
Lung

Animal Models for Hereditary Neuralgic Amyotrophy or affiliated genes

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Publications for Hereditary Neuralgic Amyotrophy

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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Neuralgic Amyotrophy:

65
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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Neuralgic Amyotrophy

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Pathways for genes affiliated with Hereditary Neuralgic Amyotrophy

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51PathCards, 31KEGG
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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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46Novoseek
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Compounds related to Hereditary Neuralgic Amyotrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine468.4TIMP2, PMP22, CYGB, SPHK1

GO Terms for genes affiliated with Hereditary Neuralgic Amyotrophy

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17Gene 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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  • Lysates
  • Antibodies

Sources for Hereditary Neuralgic Amyotrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet