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.
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsSinoMab BioScience Ltd — PHASE2
Jiangsu Genscend Biopharmaceutical Co., Ltd — PHASE1
Biopharma Plasma LLC — PHASE3
Guangdong Hengrui Pharmaceutical Co., Ltd — PHASE1
Sanofi — PHASE2
AbbVie — PHASE3
AbbVie — PHASE2
Oneness Biotech Co., Ltd. — PHASE2
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 →Clinical Trials
View all trials with filters →No actively recruiting trials found for Genetic subcutaneous tissue disorder at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Genetic subcutaneous tissue disorder.
Community
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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.