Hereditary sensory and autonomic neuropathy type 5

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ORPHA:64752OMIM:608654G60.8
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1FDA treatments1Specialists8Treatment centers

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Overview

Hereditary sensory and autonomic neuropathy type 5 (HSAN5) is a very rare inherited condition that affects the nerves responsible for sensing pain, temperature, and touch, as well as the nerves that control automatic body functions like sweating and heart rate. These are called sensory and autonomic nerves. In HSAN5, these nerves do not work properly, which means the body cannot feel pain or temperature changes the way it normally should. This is sometimes called congenital insensitivity to pain, because people with this condition are often born unable to feel pain at all. Because pain is the body's warning system, not being able to feel it is actually very dangerous. People with HSAN5 can injure themselves without knowing it — breaking bones, burning skin, or damaging joints — because they receive no pain signal telling them something is wrong. Over time, repeated unnoticed injuries can cause serious damage to bones and joints. Sweating may also be reduced or absent, making it hard for the body to regulate temperature. There is currently no cure for HSAN5. Treatment focuses on preventing injuries, monitoring for hidden damage, and managing complications as they arise. With careful daily management and regular medical check-ups, many people with HSAN5 can live meaningful lives, though the condition requires lifelong attention and care.

Also known as:

Key symptoms:

Complete or near-complete inability to feel pain from birthInability to sense hot and cold temperatures properlyRepeated bone fractures that may go unnoticedJoint damage from repeated undetected injuries (Charcot joints)Reduced or absent sweatingSkin wounds, ulcers, or infections that are not noticed because they cause no painMild reduction in touch sensationSelf-injuring behaviors in young children due to lack of pain awarenessDelayed diagnosis of internal injuries or infectionsPossible mild intellectual development differences in some cases

Clinical phenotype terms (11)— hover any for plain English
Abnormality of the gingivaHP:0000168AnhidrosisHP:0000970Painless fractures due to injuryHP:0002661Pain insensitivityHP:0007021Decreased number of small peripheral myelinated nerve fibersHP:0007249Impaired temperature sensationHP:0010829
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

6 events
Feb 2026Pirfenidone Capsules in the Treatment of Radiation-induced Lung Injury With or Without Immune Pneumonia

Beijing Continent Pharmaceutical Co, Ltd. — PHASE2, PHASE3

TrialNOT YET RECRUITING
Oct 2024LUMENS-1 EU EFS CIP

LuSeed Vascular LTD. — NA

TrialRECRUITING
Sep 2022XIENCE Skypoint Large Vessel Post Approval Study

Abbott Medical Devices

TrialACTIVE NOT RECRUITING
Mar 2020JETi Lower Extremity Venous Thrombosis

Abbott Medical Devices

TrialACTIVE NOT RECRUITING
Jul 2018Secondary Sclerosis Cholangitis Prospective

Medical University of Graz

TrialRECRUITING
Mar 1999

Lidoderm Patch: FDA approved

For relief of allodynia (painful hypersensitivity), and chronic pain in postherpetic neuralgia.

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Lidoderm Patch

Lidocaine patch 5%· Teikoku Pharma USA, Inc.Orphan Drug

No actively recruiting trials found for Hereditary sensory and autonomic neuropathy type 5 at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Hereditary sensory and autonomic neuropathy type 5 community →

Specialists

1 foundView all specialists →
AF
Annie de FILIPPIS
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Hereditary sensory and autonomic neuropathy type 5.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Hereditary sensory and autonomic neuropathy type 5

Disease timeline:

New recruiting trial: Secondary Sclerosis Cholangitis Prospective

A new clinical trial is recruiting patients for Hereditary sensory and autonomic neuropathy type 5

New recruiting trial: LUMENS-1 EU EFS CIP

A new clinical trial is recruiting patients for Hereditary sensory and autonomic neuropathy type 5

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What daily checks should we do at home to catch injuries early?,How often should we see an orthopedic specialist to check for bone and joint damage?,Are there any clinical trials or research studies we could join?,What should we do if we suspect a fracture or serious infection?,How do we manage overheating safely, especially in summer or during exercise?,Should other family members be tested for the NGF gene change?,Are there any patient registries or support networks for HSAN5 families?

Common questions about Hereditary sensory and autonomic neuropathy type 5

What is Hereditary sensory and autonomic neuropathy type 5?

Hereditary sensory and autonomic neuropathy type 5 (HSAN5) is a very rare inherited condition that affects the nerves responsible for sensing pain, temperature, and touch, as well as the nerves that control automatic body functions like sweating and heart rate. These are called sensory and autonomic nerves. In HSAN5, these nerves do not work properly, which means the body cannot feel pain or temperature changes the way it normally should. This is sometimes called congenital insensitivity to pain, because people with this condition are often born unable to feel pain at all. Because pain is the

How is Hereditary sensory and autonomic neuropathy type 5 inherited?

Hereditary sensory and autonomic neuropathy type 5 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hereditary sensory and autonomic neuropathy type 5 typically begin?

Typical onset of Hereditary sensory and autonomic neuropathy type 5 is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Hereditary sensory and autonomic neuropathy type 5?

1 specialists and care centers treating Hereditary sensory and autonomic neuropathy type 5 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Hereditary sensory and autonomic neuropathy type 5?

1 patient support program are currently tracked on UniteRare for Hereditary sensory and autonomic neuropathy type 5. See the treatments and support programs sections for copay assistance, eligibility, and contact details.