Temple syndrome

Also Known As:

UPD14mat; maternal uniparental disomy of chromosome 14

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Imprinting Disorders: 66
    - Temple syndrome: 7
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neuromuscular Manifestations: 24
    - Muscle Hypotonia: 1463
      - Temple syndrome: 7
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Disease Attributes: 18
    - Facies: 613
      - Temple syndrome: 7
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neuromuscular Manifestations: 24
      - Muscle Hypotonia: 1463
        Temple syndrome: 7

Related Diseases

1.	Infantile Spasms (West Syndrome)

Experts

1.	Grootjen, Lionne N: 1 article (01/2023)
2.	Hokken-Koelega, Anita C S: 1 article (01/2023)
3.	Juriaans, Alicia F: 1 article (01/2023)
4.	Kerkhof, Gerthe F: 1 article (01/2023)
5.	Rotteveel, Joost: 1 article (01/2023)
6.	Sas, Theo C J: 1 article (01/2023)
7.	Trueba-Timmermans, Demi J: 1 article (01/2023)
8.	Verrijn Stuart, Annemarie A: 1 article (01/2023)
9.	Walet, Sylvia: 1 article (01/2023)
10.	Zwaveling-Soonawala, Nitash: 1 article (01/2023)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Temple syndrome:

1.	Growth Hormone (Somatotropin)IBA 01/01/2023 - "The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome." 01/01/2018 - "This was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone. " 01/01/2018 - "We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome. " 01/01/2018 - "Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome." 01/01/2018 - "We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Re-analysis of the previously obtained whole exome sequencing data identified a homozygous ZNF445 variant (NM_181489.6:c.2803C>T:p.(Gln935*)) producing a truncated protein missing two of 14 zinc finger domains in a patient with Temple syndrome and MLID. " 01/01/2019 - "DLK1 encodes a transmembrane protein that is important for adipose tissue homeostasis and neurogenesis and is located in the imprinted chromosome 14q32 region associated with Temple syndrome. "
3.	Genetic Markers (Genetic Marker)IBA 05/01/2021 - "UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome." 10/01/2011 - "Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker chromosome. "
4.	hydrogen sulfite (bisulfite)IBA 10/01/2015 - "We included three patients with Temple syndrome which were studied by Infinium HumanMethylation450 BeadChips, locus-specific bisulfite-pyrosequencing, methylation-specific-MLPA and microsatellite analyses. "

Therapies and Procedures

1.	Therapeutics 01/01/2018 - "We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature."