MCID: TMP012
MIFTS: 38

Temple Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Temple Syndrome

MalaCards integrated aliases for Temple Syndrome:

Name: Temple Syndrome 57 12 20 58 29 15 39 70
Temple Syndrome Due to Maternal Uniparental Disomy of Chromosome 14 58
Temple Syndrome Due to Paternal 14q32.2 Hypomethylation 58
Temple Syndrome Due to Paternal 14q32.2 Microdeletion 58
Uniparental Disomy, Maternal, Chromosome 14 57
Paternal Del(14)(q32.2) 58
Upd(14)mat 58

Characteristics:

Orphanet epidemiological data:

58
temple syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
temple syndrome due to paternal 14q32.2 microdeletion
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
temple syndrome due to paternal 14q32.2 hypomethylation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
imprinted disorder
78% due to chromosome 14 maternal uniparental disomy
12% due to epimutation
10% due to paternal deletion
percentages based on review of 51 published cases (ioannides et al. (2014), pmid 24891339)

Inheritance:
autosomal dominant (loss of paternal allele)


HPO:

31
temple syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Temple Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254516 Definition Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability ) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).

MalaCards based summary : Temple Syndrome, also known as temple syndrome due to maternal uniparental disomy of chromosome 14, is related to uniparental disomy of chromosome 14 and maternal uniparental disomy. An important gene associated with Temple Syndrome is TEMPS (Temple Syndrome). Affiliated tissues include eye, heart and testes, and related phenotypes are precocious puberty and delayed speech and language development

Disease Ontology : 12 A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has material basis in heterozygous mutation in an impriniting region on chromosome 14q32.

OMIM® : 57 Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height. Facial features include a broad forehead and short nose with a wide nasal tip, and the majority of patients have small hands and feet. However, many of the clinical features are nonspecific, making diagnosis difficult. In addition, isodisomy may uncover recessive disorders, which may influence the phenotype in maternal uniparental disomy of chromosome 14 (UPD14mat) cases (summary by Ioannides et al., 2014). (616222) (Updated 20-May-2021)

Related Diseases for Temple Syndrome

Diseases related to Temple Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 uniparental disomy of chromosome 14 30.9 DLK1 DIO3
2 maternal uniparental disomy 30.7 RTL1 MEST MEG3 DLK1
3 precocious puberty 30.5 MKRN3 GNAS
4 kagami-ogata syndrome 30.2 WDR20 RTL1 PPIEL MEG8 MEG3 DLK1
5 silver-russell syndrome 1 29.1 ZNF597 ZDBF2 WDR20 UROD RTL1 PLAGL1
6 beckwith-wiedemann syndrome 28.4 ZDBF2 WDR20 UROD RTL1 PLAGL1 MKRN3
7 atrioventricular septal defect with blepharophimosis and anal and radial defects 11.0
8 curry-jones syndrome 11.0
9 hypotonia 10.3
10 paternal uniparental disomy 10.3 MEG3 GNAS
11 idiopathic central precocious puberty 10.3 MKRN3 DLK1
12 central precocious puberty 10.2 MKRN3 DLK1
13 prader-willi syndrome 10.2
14 diencephalic syndrome 10.2
15 pituitary carcinoma 10.1 MEG3 GNAS
16 branchiootic syndrome 1 10.1
17 47,xyy 10.1
18 intestinal atresia 10.1 PLAGL1 MEG3
19 chromosomal triplication 10.1
20 polyhydramnios 10.1 WDR20 RTL1 GNAS
21 angelman syndrome 10.0 MKRN3 MEST MEG8 DLK1
22 ovarian epithelial cancer 10.0 MIR127 MEG3
23 mosaic trisomy 14 10.0
24 autism 9.9
25 cryptorchidism, unilateral or bilateral 9.9
26 alacrima, achalasia, and mental retardation syndrome 9.9
27 autism spectrum disorder 9.9
28 papillary carcinoma 9.9
29 fatty liver disease 9.9
30 hypoglycemia 9.9
31 thyroid carcinoma 9.9
32 chromosome 2q37 deletion syndrome 9.8 ZNF597 ZDBF2 WDR20 PLAGL1 MEST GNAS
33 transient neonatal diabetes mellitus 9.7 WDR20 PLAGL1 MEST GRB10 GNAS FAM50B

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



Diseases related to Temple Syndrome

Symptoms & Phenotypes for Temple Syndrome

Human phenotypes related to Temple Syndrome:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 precocious puberty 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%),Frequent (79-30%),Very frequent (99-80%) HP:0000826
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0000750
3 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%),Frequent (79-30%) HP:0001511
4 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0008897
5 motor delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001270
6 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001382
7 small hand 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0200055
8 short foot 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001773
9 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001518
10 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0008947
11 hypotonia 31 hallmark (90%) HP:0001252
12 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Frequent (79-30%) HP:0001249
13 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
14 short stature 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
15 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0008872
16 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
17 prominent forehead 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0011220
18 obesity 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0001513
19 premature birth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001622
20 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
21 feeding difficulties 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0011968
22 relative macrocephaly 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0004482
23 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
24 scoliosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002650
25 high palate 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000218
26 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
27 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
28 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
29 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
30 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000028
31 micrognathia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000347
32 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000403
33 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
34 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
35 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
36 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003124
37 short philtrum 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000322
38 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
39 wide nose 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000445
40 bifid uvula 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0000193
41 poor eye contact 58 31 occasional (7.5%) Occasional (29-5%) HP:0000817
42 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
43 abnormality of the genitourinary system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000119
44 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0007010
45 polyphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002591
46 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0030084
47 maturity-onset diabetes of the young 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004904
48 decreased facial expression 58 31 occasional (7.5%) Occasional (29-5%) HP:0004673
49 acromicria 58 31 occasional (7.5%) Occasional (29-5%) HP:0031878
50 hypertriglyceridemia 31 occasional (7.5%) HP:0002155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Weight:
truncal obesity
low birth weight (87%)
overweight later in life (median bmi 26.6)

Genitourinary Internal Genitalia Male:
small testes (rare)
cryptorchidism (rare)

Head And Neck Ears:
posteriorly rotated ears (in some patients)
recurrent otitis media (18%)

Growth Height:
short stature (79%)

Head And Neck Head:
relative macrocephaly (56%)
frontal bossing (33%)
prominent forehead (33%)

Head And Neck Eyes:
almond-shaped eyes (rare)

Skeletal:
hyperextensible joints (63%)
joint contractures (8%)

Skeletal Feet:
small feet (96%)

Voice:
high-pitched, nasal speech (rare)

Prenatal Manifestations:
premature birth (30%)

Head And Neck Mouth:
bifid uvula (rare)
cleft palate (rare)
high palate (26%)

Head And Neck Nose:
anteverted nares (in some patients)
depressed nasal bridge (in some patients)
broad nose (12%)

Skeletal Spine:
scoliosis (23%)

Growth Other:
intrauterine growth retardation (iugr, 75%)

Head And Neck Face:
short philtrum (18%)
micrognathia (24%)

Abdomen Gastrointestinal:
feeding problems (43%)

Skeletal Hands:
small hands (87%)
clinodactyly (31%)

Neurologic Central Nervous System:
hypotonia (93%)
motor developmental delay (83%)
speech delay (59%)
mild mental retardation (39%)
feeding problems/weak suck (43%)
more
Endocrine Features:
early onset puberty (86%)
maturity-onset diabetes of the young (rare)
early-onset type ii diabetes (rare)

Laboratory Abnormalities:
hypercholesterolemia (10%)
hypertriglyceridemia (rare)

Clinical features from OMIM®:

616222 (Updated 20-May-2021)

Drugs & Therapeutics for Temple Syndrome

Search Clinical Trials , NIH Clinical Center for Temple Syndrome

Genetic Tests for Temple Syndrome

Genetic tests related to Temple Syndrome:

# Genetic test Affiliating Genes
1 Temple Syndrome 29

Anatomical Context for Temple Syndrome

MalaCards organs/tissues related to Temple Syndrome:

40
Eye, Heart, Testes, Thyroid, Liver, Pituitary

Publications for Temple Syndrome

Articles related to Temple Syndrome:

(show all 49)
# Title Authors PMID Year
1
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms. 61 57
32592473 2020
2
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. 57 61
24891339 2014
3
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. 57
18454453 2008
4
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 57
17601927 2007
5
Maternal uniparental disomy for chromosome 14. 57
1681108 1991
6
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome. 61
33746039 2021
7
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14. 61
33595182 2021
8
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome. 61
33579810 2021
9
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. 61
33313884 2021
10
Molecular characterization of temple syndrome families with 14q32 epimutations. 61
33010492 2020
11
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. 61
33092629 2020
12
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. 61
32866124 2020
13
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. 61
31427715 2019
14
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 61
31186545 2019
15
DLK1, Notch Signaling and the Timing of Puberty. 61
31972862 2019
16
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected. 61
31079043 2019
17
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. 61
31014393 2019
18
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. 61
30846001 2019
19
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders. 61
30801013 2019
20
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. 61
30655999 2019
21
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61
29659920 2018
22
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 61
30181735 2018
23
Molecular and clinical studies in 8 patients with Temple syndrome. 61
29468661 2018
24
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. 61
29159982 2018
25
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. 61
30836360 2018
26
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders. 61
30227764 2018
27
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. 61
28640239 2017
28
Overexpression of microRNAs from the Gtl2-Rian locus contributes to postnatal death in mice. 61
28934383 2017
29
DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer. 61
28715922 2017
30
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. 61
28635951 2017
31
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. 61
28588434 2017
32
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty. 61
28324015 2017
33
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. 61
27632690 2017
34
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features. 61
27172843 2017
35
A rare cause of temple syndrome. 61
27383220 2017
36
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. 61
27362607 2016
37
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. 61
26867509 2016
38
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. 61
27323310 2016
39
Temple syndrome misdiagnosed as Silver-Russell syndrome. 61
26862943 2016
40
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. 61
26333654 2016
41
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. 61
26395259 2016
42
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. 61
26541061 2015
43
Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype. 61
26003415 2015
44
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype. 61
25351781 2015
45
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster. 61
25756153 2015
46
Perturbations to the IGF1 growth pathway and adult energy homeostasis following disruption of mouse chromosome 12 imprinting. 61
24034272 2014
47
Uniparental disomies 7 and 14. 61
21396576 2011
48
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. 61
9747372 1998
49
Gazali-Temple syndrome. 61
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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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