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hereditary sensory and autonomic neuropathy type 1B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary sensory and autonomic neuropathy type 1B

MONDO:0011961

Also known as:HSAN with cough and gastroesophageal refluxHSAN1Bhereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux

Overview

Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Inner ear hearing loss (sensorineural hearing impairment), Hoarse voice, Gastroesophageal reflux, and Distal sensory impairment and 5 more.

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary sensory and autonomic neuropathy type 1B.

2 publications have been identified in PubMed for hereditary sensory and autonomic neuropathy type 1B. Research spans Case Report / Case Series (100%).

Recent Publications

Ahmad R (2025). [PMID: 40938507](https://pubmed.ncbi.nlm.nih.gov/40938507/). *Neurol Sci*. [Case Report / Case Series]
Madhavi K (2024). [PMID: 39624339](https://pubmed.ncbi.nlm.nih.gov/39624339/). *Clin Park Relat Disord*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608088

Orphanet

European rare disease database

Orphanet:139564

GARD

Genetic and Rare Diseases Info Center

GARD:16958

Questions for Your Care Team

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hereditary sensory and autonomic neuropathy type 1B

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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