Genetic subcutaneous tissue disorder

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:183484
Who is this for?
Show terms as
8Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Genetic subcutaneous tissue disorder is a broad classification category used by Orphanet (ORPHA:183484) to group a collection of rare genetic conditions that primarily affect the subcutaneous tissue — the layer of fat and connective tissue located beneath the skin. This is not a single disease entity but rather a hierarchical grouping term that encompasses multiple distinct rare disorders affecting subcutaneous structures, including various forms of lipodystrophy, panniculitis, and other inherited conditions involving abnormal development, distribution, or function of subcutaneous fat and connective tissue. Because this is a classification category rather than a specific clinical diagnosis, the symptoms, inheritance patterns, age of onset, and severity vary widely depending on the individual disorder within this group. Conditions classified under this umbrella may present with abnormalities in fat distribution (either excess or deficiency of subcutaneous fat), subcutaneous nodules, tissue inflammation, or structural abnormalities of the connective tissue beneath the skin. Some of these conditions may also affect metabolic function, particularly lipid and glucose metabolism, when subcutaneous adipose tissue is significantly altered. Treatment approaches are specific to each individual disorder within this category and may range from symptomatic management and metabolic monitoring to targeted therapies such as metreleptin for certain forms of lipodystrophy. Patients suspected of having a genetic subcutaneous tissue disorder should be evaluated by a clinical geneticist and relevant specialists to obtain a precise molecular diagnosis, which is essential for appropriate management and genetic counseling.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Apr 2026A Clinical Study to Evaluate SM17 for Atopic Dermatitis

SinoMab BioScience Ltd — PHASE2

TrialNOT YET RECRUITING
Mar 2026A Phase 1 Study of GS101 Injection

Jiangsu Genscend Biopharmaceutical Co., Ltd — PHASE1

TrialRECRUITING
Dec 2025Study of BP-SCIG 20% in Patients With Primary Immunodeficiency (PID)

Biopharma Plasma LLC — PHASE3

TrialRECRUITING
Dec 2025A Study on the Bioavailability of SHR-1819 Injection Administered Subcutaneously Using Different Injection Devices in Healthy Subjects

Guangdong Hengrui Pharmaceutical Co., Ltd — PHASE1

TrialNOT YET RECRUITING
Aug 2025A Study Evaluating TRIV-509 in Atopic Dermatitis

Triveni Bio — PHASE2

TrialRECRUITING
Jan 2025A Study to Investigate the Efficacy and Safety of Subcutaneous Lunsekimig (SAR443765) Compared With Placebo in Adult Participants With Moderate-to-severe Atopic Dermatitis

Sanofi — PHASE2

TrialACTIVE NOT RECRUITING
Aug 2024A Study to Assess Adverse Events and Change in Disease Activity Comparing Oral Upadacitinib to Subcutaneous Dupilumab in Children From 2 to Less Than 12 Years of Age With Moderate to Severe Atopic Dermatitis

AbbVie — PHASE3

TrialRECRUITING
Aug 2024A Study to Assess Molecular Changes in Adult Participants With Moderate to Severe Hidradenitis Suppurativa or With Moderate to Severe Atopic Dermatitis Receiving Subcutaneous Injections of Lutikizumab

AbbVie — PHASE2

TrialRECRUITING
Aug 2024Evaluate Efficacy and Safety of Repeat Subcutaneous Doses of FB825 in Adults With Moderate-to-Severe Atopic Dermatitis

Oneness Biotech Co., Ltd. — PHASE2

TrialRECRUITING
May 2024A Study to Evaluate the Treatment Response and Safety of Two Dose Regimens of Subcutaneous Amlitelimab Compared With Treatment Withdrawal in Participants Aged 12 Years and Older With Moderate-to-severe Atopic Dermatitis

Sanofi — PHASE3

TrialACTIVE NOT RECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Genetic subcutaneous tissue disorder.

View clinical trials →

No actively recruiting trials found for Genetic subcutaneous tissue disorder at this time.

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

Search ClinicalTrials.gov ↗Join the Genetic subcutaneous tissue disorder community →

Specialists

8 foundView all specialists →
AM
Aleena Banerji, M.D.
BOSTON, MA
Specialist
PI on 1 active trial
GD
Global Clinical Program Director
Specialist
PI on 5 active trials
CC
Chia-Yu Chu
Specialist
PI on 1 active trial65 Genetic subcutaneous tissue disorder publications
SP
Scott R Plotkin
BUFFALO, NY
Specialist
PI on 1 active trial61 Genetic subcutaneous tissue disorder publications
HP
Hendrik Wolf, PhD
Specialist
PI on 1 active trial
AP
Alexander Kapp, MD, Prof.
ARLINGTON, VA
Specialist
PI on 1 active trial
OM
Osamu Mikami, MD
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 Genetic subcutaneous tissue disorder.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Genetic subcutaneous tissue disorderForum →

No community posts yet. Be the first to share your experience with Genetic subcutaneous tissue disorder.

Start the conversation →

Latest news about Genetic subcutaneous tissue disorder

Disease timeline:

New recruiting trial: Evaluate Efficacy and Safety of Repeat Subcutaneous Doses of FB825 in Adults With Moderate-to-Severe Atopic Dermatitis

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: Study of BP-SCIG 20% in Patients With Primary Immunodeficiency (PID)

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: A Study to Assess Adverse Events and Change in Disease Activity Comparing Oral Upadacitinib to Subcutaneous Dupilumab in Children From 2 to Less Than 12 Years of Age With Moderate to Severe Atopic Dermatitis

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: A Study to Assess Molecular Changes in Adult Participants With Moderate to Severe Hidradenitis Suppurativa or With Moderate to Severe Atopic Dermatitis Receiving Subcutaneous Injections of Lutikizumab

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: A Phase 1 Study of GS101 Injection

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: A Clinical Trial of Study Medicine (Marstacimab) in Pediatric Patients With Hemophilia A or Hemophilia B

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: A Study to Evaluate the Efficacy and Safety of Subcutaneous Amlitelimab on Background Topical Corticosteroids Therapy in Participants Aged 12 Years and Older With Moderate-to-severe AD Who Have Had an Inadequate Response to Prior Biologic Therapy or an Oral JAK Inhibitor

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: Open Label, Long-term Study Evaluating Safety and Efficacy of Subcutaneous Amlitelimab in Participants Aged 12 Years and Older With Moderate to Severe Atopic Dermatitis

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

New recruiting trial: A Study Evaluating TRIV-509 in Atopic Dermatitis

A new clinical trial is recruiting patients for Genetic subcutaneous tissue disorder

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.

Common questions about Genetic subcutaneous tissue disorder

What is Genetic subcutaneous tissue disorder?

Genetic subcutaneous tissue disorder is a broad classification category used by Orphanet (ORPHA:183484) to group a collection of rare genetic conditions that primarily affect the subcutaneous tissue — the layer of fat and connective tissue located beneath the skin. This is not a single disease entity but rather a hierarchical grouping term that encompasses multiple distinct rare disorders affecting subcutaneous structures, including various forms of lipodystrophy, panniculitis, and other inherited conditions involving abnormal development, distribution, or function of subcutaneous fat and conn

Which specialists treat Genetic subcutaneous tissue disorder?

8 specialists and care centers treating Genetic subcutaneous tissue disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.