MCID: TMP012
MIFTS: 38

Temple Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Temple Syndrome

Aliases & Descriptions for Temple Syndrome:

Name: Temple Syndrome 54 24 29 69
Motor Developmental Delay Due to 14q32.2 Paternally Expressed Gene Defect 56
Maternal Uniparental Disomy of Chromosome 14 56
Maternal Uniparental Disomy, Chromosome 14 24
Upd(14)mat 56

Characteristics:

Orphanet epidemiological data:

56
motor developmental delay due to 14q32.2 paternally expressed gene defect
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
maternal uniparental disomy of chromosome 14
Age of onset: Antenatal,Neonatal;

HPO:

32
temple syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 616222
ICD10 via Orphanet 34 Q99.8

Summaries for Temple Syndrome

OMIM : 54 Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and... (616222) more...

MalaCards based summary : Temple Syndrome, also known as motor developmental delay due to 14q32.2 paternally expressed gene defect, is related to houlston ironton temple syndrome and atrioventricular septal defect with blepharophimosis and anal and radial defects, and has symptoms including frontal bossing, clinodactyly and high palate. An important gene associated with Temple Syndrome is TEMPS (Temple Syndrome). The drugs Estradiol and Abacavir have been mentioned in the context of this disorder. Affiliated tissues include thyroid.

Related Diseases for Temple Syndrome

Graphical network of the top 20 diseases related to Temple Syndrome:



Diseases related to Temple Syndrome

Symptoms & Phenotypes for Temple Syndrome

Symptoms by clinical synopsis from OMIM:

616222

Clinical features from OMIM:

616222

Human phenotypes related to Temple Syndrome:

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 clinodactyly 32 HP:0030084
3 high palate 32 HP:0000218
4 hydrocephalus 32 HP:0000238
5 muscular hypotonia 32 HP:0001252
6 scoliosis 32 HP:0002650
7 depressed nasal bridge 32 HP:0005280
8 delayed speech and language development 32 HP:0000750
9 anteverted nares 32 HP:0000463
10 short stature 32 HP:0004322
11 flexion contracture 32 HP:0001371
12 prominent forehead 32 HP:0011220
13 hypertriglyceridemia 32 HP:0002155
14 cleft palate 32 HP:0000175
15 micrognathia 32 HP:0000347
16 feeding difficulties 32 HP:0011968
17 short foot 32 HP:0001773
18 cryptorchidism 32 HP:0000028
19 recurrent otitis media 32 HP:0000403
20 short philtrum 32 HP:0000322
21 decreased testicular size 32 HP:0008734
22 small hand 32 HP:0200055
23 joint hypermobility 32 HP:0001382
24 hypercholesterolemia 32 HP:0003124
25 wide nose 32 HP:0000445
26 bifid uvula 32 HP:0000193
27 premature birth 32 HP:0001622
28 truncal obesity 32 HP:0001956
29 small for gestational age 32 HP:0001518
30 posteriorly rotated ears 32 HP:0000358
31 maturity-onset diabetes of the young 32 HP:0004904
32 relative macrocephaly 32 HP:0004482

Drugs & Therapeutics for Temple Syndrome

Drugs for Temple Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 317)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
2
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
3
Tenofovir Approved, Investigational Phase 4,Phase 3 147127-20-6 464205
4
Liraglutide Approved Phase 4,Phase 2 204656-20-2
5
Ticagrelor Approved Phase 4 274693-27-5 9871419
6
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
7
Lopinavir Approved Phase 4 192725-17-0 92727
8
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
9
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
10 Contraceptive Agents Phase 4,Phase 2
11 Contraceptives, Oral Phase 4,Phase 2
12 Estradiol 17 beta-cypionate Phase 4
13 Estradiol 3-benzoate Phase 4
14 Estradiol valerate Phase 4 979-32-8
15 Estrogens Phase 4
16 Hormone Antagonists Phase 4,Phase 3,Phase 2
17 Hormones Phase 4,Phase 3,Phase 2
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
19 Polyestradiol phosphate Phase 4
20 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
22 Anti-HIV Agents Phase 4,Phase 3,Phase 1
23 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
24 Anti-Retroviral Agents Phase 4,Phase 3,Phase 1
25 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
27 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 1
28 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
29 Incretins Phase 4,Phase 3,Phase 2
30 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3
31 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
32 HIV Protease Inhibitors Phase 4,Phase 3
33
protease inhibitors Phase 4,Phase 3
34 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
35 glucocorticoids Phase 4,Phase 3,Phase 2
36 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Anti-Arrhythmia Agents Phase 4,Phase 1,Phase 2
38
Pregabalin Approved, Illicit, Investigational Phase 3,Phase 2 148553-50-8 5486971
39
Busulfan Approved, Investigational Phase 3,Phase 2 55-98-1 2478
40
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
41
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
42
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
43
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
44
Asparaginase Approved Phase 3 9015-68-3
45
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
46
Daunorubicin Approved Phase 3 20830-81-3 30323
47
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
48
Thioguanine Approved Phase 3 154-42-7 2723601
49
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
50
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081

Interventional clinical trials:

(show top 50) (show all 129)
id Name Status NCT ID Phase
1 Prevention of Menstrual Migraines: Effects of Estrogen Add-back During the HFI in Patients Using Continuous Oral Contraceptives. Unknown status NCT01251263 Phase 4
2 Evolution of L74V or K65R Mutations in VIremic Subjects on Tenofovir Disoproxil Fumarate (TDF) or Abacavir (ABC) (EVITA) Completed NCT00312169 Phase 4
3 Liraglutide for HIV-associated Neurocognitive Disorder Recruiting NCT02743598 Phase 4
4 Affordability and Real-world Antiplatelet Treatment Effectiveness After Myocardial Infarction Study Active, not recruiting NCT02406677 Phase 4
5 Strategic Timing of Antiretroviral Treatment Active, not recruiting NCT00867048 Phase 4
6 Kaletra and Maraviroc in Antiretroviral Therapy (ART)-Naive Patients (KALMAR Study) Terminated NCT01068873 Phase 4
7 Flexitouch Compression System for Venous Stasis Ulcer Terminated NCT00534937 Phase 4
8 Transfusion Effects in Myelodysplastic Patients: Limiting Exposure Withdrawn NCT00202371 Phase 4
9 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4
10 Efficacy & Safety Study of Pregabalin to Treat Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) Unknown status NCT00371033 Phase 3
11 Acupuncture for Dry Eye Syndrome Completed NCT00969280 Phase 3
12 S9920 Busulfan Compared With Cyclophosphamide in Patients Undergoing Total-Body Irradiation Plus Peripheral Stem Cell Transplantation for Advanced Myelodysplastic Syndrome or Related Acute Myeloid Leukemia Completed NCT00005866 Phase 3
13 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
14 A Placebo-Controlled, Double-Blind Study to Confirm the Reversal of Hepatorenal Syndrome Type 1 With Terlipressin Completed NCT01143246 Phase 3
15 Erythropoietin (EPO)+/- Filgrastim (G-CSF) vs. Supportive Therapy Alone for Patients With Myelodysplastic Syndromes Completed NCT00003138 Phase 3
16 Cardiovascular Outcomes Study of Alogliptin in Patients With Type 2 Diabetes and Acute Coronary Syndrome Completed NCT00968708 Phase 3
17 Trial to Compare Alfuzosin Versus Placebo in the Treatment of Chronic Prostatitis/Chronic Pelvic Pain Syndrome Completed NCT00103402 Phase 3
18 Acute Venous Thrombosis: Thrombus Removal With Adjunctive Catheter-Directed Thrombolysis Completed NCT00790335 Phase 3
19 Targeting Inflammation Using Salsalate for Type 2 Diabetes-stage II Completed NCT00799643 Phase 2, Phase 3
20 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3
21 Antifungal Therapy for Fever and Neutropenia in Patients Receiving Treatment for Hematologic Cancer Completed NCT00002742 Phase 3
22 BEdtime Sublingual TNX-102 SL as Fibromyalgia Intervention Therapy (BESTFIT) Completed NCT01903265 Phase 2, Phase 3
23 Insulin Resistance Intervention After Stroke Trial Completed NCT00091949 Phase 3
24 Efficacy and Safety of Alogliptin in Subjects With Type 2 Diabetes Completed NCT00286455 Phase 3
25 A Phase III Randomized, Double-Blind, Controlled Study of the Use of Anti-HIV Immune Serum Globulin (HIVIG) for the Prevention of Maternal-Fetal HIV Transmission in Pregnant Women and Newborns Receiving Zidovudine (AZT) Completed NCT00000751 Phase 3
26 A Comparison of Fluconazole and Amphotericin B in the Treatment of Fungal Infections Completed NCT00002277 Phase 3
27 Alpha-Lipoic Acid in Preventing Peripheral Neuropathy in Patients Receiving Chemotherapy for Cancer Completed NCT00112996 Phase 3
28 Long-term Safety of Alogliptin in Patients With Type 2 Diabetes Mellitus Completed NCT00306384 Phase 3
29 Study of Alogliptin Combined With Pioglitazone in Subjects With Type 2 Diabetes Mellitus Completed NCT00286494 Phase 3
30 Study of Alogliptin Combined With Sulfonylurea in Subjects With Type 2 Diabetes Mellitus. Completed NCT00286468 Phase 3
31 Efficacy and Safety Study of Alogliptin and Insulin in the Treatment of Type 2 Diabetes. Completed NCT00286429 Phase 3
32 Dexamethasone Compared With Prednisone During Induction Therapy and MTX With or Without Leucovorin During Maintenance Therapy in Treating Patients With Newly Diagnosed High-Risk Acute Lymphoblastic Leukemia Completed NCT00075725 Phase 3
33 Isavuconazole (BAL8557) in the Treatment of Candidemia and Other Invasive Candida Infections Completed NCT00413218 Phase 3
34 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3
35 Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' Tumor Completed NCT00352534 Phase 3
36 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3
37 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3
38 A Study of Nevirapine for the Prevention of HIV Transmission From Mothers to Their Babies Completed NCT00000869 Phase 3
39 An International Study to Evaluate Recombinant Interleukin-2 in HIV Positive Patients Taking Anti-retroviral Therapy Completed NCT00004978 Phase 3
40 Study of Perampanel as Adjunctive Treatment for Inadequately Controlled Seizures Associated With Lennox-Gastaut Syndrome Recruiting NCT02834793 Phase 3
41 Efficacy and Safety of 2 Doses of AQX-1125 in Subjects With Interstitial Cystitis / Bladder Pain Syndrome Recruiting NCT02858453 Phase 3
42 Psychotherapy for Anxiety in Children With Autism Spectrum Disorder Recruiting NCT02028247 Phase 3
43 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3
44 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
45 Selepressin Evaluation Programme for Sepsis-Induced Shock - Adaptive Clinical Trial Recruiting NCT02508649 Phase 2, Phase 3
46 Evaluating the Use of Pitavastatin to Reduce the Risk of Cardiovascular Disease in HIV-Infected Adults Recruiting NCT02344290 Phase 3
47 ST Monitoring to Detect Acute Coronary Syndrome Events in Implantable Cardioverter Defibrillator Patients Active, not recruiting NCT01424722 Phase 3
48 AngelMed for Early Recognition and Treatment of STEMI Active, not recruiting NCT00781118 Phase 3
49 Safety and Efficacy of E/C/F/TDF (Stribild®) Versus RTV-Boosted ATV Plus FTC/TDF (Truvada®) in HIV-1 Infected, Antiretroviral Treatment-Naive Women Active, not recruiting NCT01705574 Phase 3
50 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3

Search NIH Clinical Center for Temple Syndrome

Genetic Tests for Temple Syndrome

Genetic tests related to Temple Syndrome:

id Genetic test Affiliating Genes
1 Temple Syndrome 29
2 Maternal Uniparental Disomy, Chromosome 14 24

Anatomical Context for Temple Syndrome

MalaCards organs/tissues related to Temple Syndrome:

39
Thyroid

Publications for Temple Syndrome

Articles related to Temple Syndrome:

id Title Authors Year
1
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
2
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. ( 27632690 )
2016
3
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. ( 26867509 )
2016
4
A rare cause of temple syndrome. ( 27383220 )
2016
5
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
6
New patients with temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. ( 26333654 )
2015
7
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. ( 26395259 )
2015
8
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. ( 26541061 )
2015
9
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. ( 24891339 )
2014
10
Gazali-Temple syndrome. ( 8002846 )
1994

Variations for Temple Syndrome

Expression for Temple Syndrome

Search GEO for disease gene expression data for Temple Syndrome.

Pathways for Temple Syndrome

GO Terms for Temple Syndrome

Sources for Temple Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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