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Hereditary sensory and autonomic neuropathy type 7(HSAN7)

MedGen UID:
816212
•Concept ID:
C3809882
•
Disease or Syndrome
Synonyms: HSAN VII; Neuropathy, hereditary sensory and autonomic, type VII
SNOMED CT: Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction (783550006); Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction (783550006); Hereditary sensory and autonomic neuropathy type 7 (783550006); Hereditary sensory and autonomic neuropathy type VII (783550006); HSAN7- hereditary sensory and autonomic neuropathy type 7 (783550006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): SCN11A (3p22.2)
 
Monarch Initiative: MONDO:0014244
OMIM®: 615548
Orphanet: ORPHA391397

Definition

Hereditary sensory and autonomic neuropathy type VII (HSAN7) is characterized by congenital absence of pain sensation resulting in recurrent injuries and self-inflicted wounds. Severe pruritis, intestinal dysmotility, and hyperhydrosis may be present (Woods et al., 2015; Salvatierra et al., 2018). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). [from OMIM]

Clinical features

From HPO
Constipation
MedGen UID:
1101
•Concept ID:
C0009806
•
Sign or Symptom
Infrequent or difficult evacuation of feces.
See: Feature record | Search on this feature
Diarrhea
MedGen UID:
8360
•Concept ID:
C0011991
•
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
See: Feature record | Search on this feature
Abnormal autonomic nervous system physiology
MedGen UID:
8511
•Concept ID:
C0013363
•
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
See: Feature record | Search on this feature
Pain insensitivity
MedGen UID:
488855
•Concept ID:
C0344307
•
Finding
Inability to perceive painful stimuli.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
See: Feature record | Search on this feature
Hyperhidrosis
MedGen UID:
5690
•Concept ID:
C0020458
•
Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
See: Feature record | Search on this feature
Pruritus
MedGen UID:
19534
•Concept ID:
C0033774
•
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
See: Feature record | Search on this feature
Poor wound healing
MedGen UID:
377525
•Concept ID:
C1851789
•
Finding
A reduced ability to heal cutaneous wounds.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary sensory and autonomic neuropathy type 7
Follow this link to review classifications for Hereditary sensory and autonomic neuropathy type 7 in Orphanet.

Professional guidelines

PubMed

Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type.
Papagianni A, Ihne S, Zeller D, Morbach C, Üçeyler N, Sommer C
Amyloid 2022 Mar;29(1):14-22. Epub 2021 Oct 11 doi: 10.1080/13506129.2021.1976751. PMID: 34632904

Recent clinical studies

Etiology

Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type.
Papagianni A, Ihne S, Zeller D, Morbach C, Üçeyler N, Sommer C
Amyloid 2022 Mar;29(1):14-22. Epub 2021 Oct 11 doi: 10.1080/13506129.2021.1976751. PMID: 34632904
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, Lettori D, Stregapede F, Bosco L, Sferra A, Tessarollo V, Romaniello R, Ristori G, Bertini E, Valente EM, Zanni G
J Med Genet 2021 Jul;58(7):475-483. Epub 2020 Jul 31 doi: 10.1136/jmedgenet-2020-107007. PMID: 32737135
Elucidating the chemical structure of native 1-deoxysphingosine.
Steiner R, Saied EM, Othman A, Arenz C, Maccarone AT, Poad BL, Blanksby SJ, von Eckardstein A, Hornemann T
J Lipid Res 2016 Jul;57(7):1194-203. Epub 2016 May 10 doi: 10.1194/jlr.M067033. PMID: 27165858Free PMC Article
Hereditary sensory neuropathy type I.
Auer-Grumbach M
Orphanet J Rare Dis 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. PMID: 18348718Free PMC Article
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Diagnosis

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H
J Peripher Nerv Syst 2023 Dec;28(4):597-607. Epub 2023 Aug 18 doi: 10.1111/jns.12590. PMID: 37555797
Demyelination in hereditary sensory neuropathy type-1C.
Saba S, Chen Y, Maddipati KR, Hackett M, Hu B, Li J
Ann Clin Transl Neurol 2020 Sep;7(9):1502-1512. Epub 2020 Jul 30 doi: 10.1002/acn3.51110. PMID: 32730653Free PMC Article
Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method.
Yozu A, Haga N, Funato T, Owaki D, Chiba R, Ota J
Neurosci Res 2016 Mar;104:105-11. Epub 2015 Nov 10 doi: 10.1016/j.neures.2015.10.011. PMID: 26562335
Hereditary sensory neuropathy type I.
Auer-Grumbach M
Orphanet J Rare Dis 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. PMID: 18348718Free PMC Article
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Therapy

Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies.
Griffin JM, Baughan E, Rosenblum H, Clerkin KJ, Fried JA, Raikhelkar J, Uriel N, Brannagan TH, Takeda K, Grodin JL, Marboe C, Maurer MS, Farr MA
J Heart Lung Transplant 2022 Feb;41(2):199-207. Epub 2021 Oct 25 doi: 10.1016/j.healun.2021.10.007. PMID: 34922822
Intranasal "painless" human Nerve Growth Factor [corrected] slows amyloid neurodegeneration and prevents memory deficits in App X PS1 mice.
Capsoni S, Marinelli S, Ceci M, Vignone D, Amato G, Malerba F, Paoletti F, Meli G, Viegi A, Pavone F, Cattaneo A
PLoS One 2012;7(5):e37555. Epub 2012 May 30 doi: 10.1371/journal.pone.0037555. PMID: 22666365Free PMC Article
Genetic mutations that prevent pain: implications for future pain medication.
Oertel B, Lötsch J
Pharmacogenomics 2008 Feb;9(2):179-94. doi: 10.2217/14622416.9.2.179. PMID: 18370847

Prognosis

Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies.
Griffin JM, Baughan E, Rosenblum H, Clerkin KJ, Fried JA, Raikhelkar J, Uriel N, Brannagan TH, Takeda K, Grodin JL, Marboe C, Maurer MS, Farr MA
J Heart Lung Transplant 2022 Feb;41(2):199-207. Epub 2021 Oct 25 doi: 10.1016/j.healun.2021.10.007. PMID: 34922822
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM
J Neurol Neurosurg Psychiatry 2019 Aug;90(8):895-906. Epub 2019 Apr 17 doi: 10.1136/jnnp-2018-320198. PMID: 30995999
Hereditary sensory neuropathy type I.
Auer-Grumbach M
Orphanet J Rare Dis 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. PMID: 18348718Free PMC Article
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455
Nonprogressive type II hereditary sensory autonomic neuropathy: a homogeneous clinicopathologic entity.
Ferrière G, Guzzetta F, Kulakowski S, Evrard P
J Child Neurol 1992 Oct;7(4):364-70. doi: 10.1177/088307389200700406. PMID: 1469243

Clinical prediction guides

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H
J Peripher Nerv Syst 2023 Dec;28(4):597-607. Epub 2023 Aug 18 doi: 10.1111/jns.12590. PMID: 37555797
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM
J Neurol Neurosurg Psychiatry 2019 Aug;90(8):895-906. Epub 2019 Apr 17 doi: 10.1136/jnnp-2018-320198. PMID: 30995999
Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS).
Cruz MW, Pinto MV, Pinto LF, Gervais R, Dias M, Perez C, Mundayat R, Ong ML, Pedrosa RC, Foguel D
Arq Neuropsiquiatr 2019 Feb;77(2):96-100. doi: 10.1590/0004-282X20180156. PMID: 30810593
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570
Hereditary sensory neuropathy type I.
Auer-Grumbach M
Orphanet J Rare Dis 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. PMID: 18348718Free PMC Article

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