What is Temple syndrome due to paternal 14q32.2 hypomethylation?
Temple syndrome due to paternal 14q32.2 hypomethylation does not yet have FDA-approved treatments tracked on UniteRare.
Clinical phenotype terms— hover any for plain English:
- Decreased facial expressionHP:0004673
- Maturity-onset diabetes of the youngHP:0004904
- Inheritance
- Sporadic
- Usually appears on its own, not inherited from a parent
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Temple syndrome due to paternal 14q32.2 hypomethylation.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Temple syndrome due to paternal 14q32.2 hypomethylation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Temple syndrome due to paternal 14q32.2 hypomethylation.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Temple syndrome due to paternal 14q32.2 hypomethylation.
Community
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Start the conversation →Latest news about Temple syndrome due to paternal 14q32.2 hypomethylation
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Temple syndrome due to paternal 14q32.2 hypomethylation.
Follow this condition to be notified when news becomes available.
Caregiver Resources
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Mental Health Support
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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 Temple syndrome due to paternal 14q32.2 hypomethylation
What is Temple syndrome due to paternal 14q32.2 hypomethylation?
Temple syndrome due to paternal 14q32.2 hypomethylation is a rare imprinting disorder that results from loss of methylation at the differentially methylated region (DMR) on the paternally inherited chromosome 14q32.2. This epigenetic alteration leads to the overexpression of maternally expressed genes and silencing of paternally expressed genes in this imprinted region, producing a clinical phenotype identical to other molecular subtypes of Temple syndrome (also known as maternal uniparental disomy of chromosome 14 syndrome or UPD(14)mat syndrome). Temple syndrome affects multiple body systems
How is Temple syndrome due to paternal 14q32.2 hypomethylation inherited?
Temple syndrome due to paternal 14q32.2 hypomethylation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Temple syndrome due to paternal 14q32.2 hypomethylation typically begin?
Typical onset of Temple syndrome due to paternal 14q32.2 hypomethylation is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Temple syndrome due to paternal 14q32.2 hypomethylation
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Temple syndrome due to paternal 14q32.2 hypomethylation?
Temple syndrome due to paternal 14q32.2 hypomethylation is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:254531, OMIM 616222). It is typically inherited as sporadic. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Temple syndrome due to paternal 14q32.2 hypomethylation page.
How is Temple syndrome due to paternal 14q32.2 hypomethylation inherited?
Temple syndrome due to paternal 14q32.2 hypomethylation follows sporadic inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Temple syndrome due to paternal 14q32.2 hypomethylation?
Approved treatments for Temple syndrome due to paternal 14q32.2 hypomethylation are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Temple syndrome due to paternal 14q32.2 hypomethylation?
Active clinical trials for Temple syndrome due to paternal 14q32.2 hypomethylation are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Temple syndrome due to paternal 14q32.2 hypomethylation?
Verified Temple syndrome due to paternal 14q32.2 hypomethylation specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Temple syndrome due to paternal 14q32.2 hypomethylation page for complete clinical details, sources, and verified-specialist listings.
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