MCID: TMP012
MIFTS: 35

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 58 54 60 30 74
Temple Syndrome Due to Maternal Uniparental Disomy of Chromosome 14 54 60
Upd(14)mat 54 60
Temple Syndrome Due to Paternal 14q32.2 Hypomethylation 60
Temple Syndrome Due to Paternal 14q32.2 Microdeletion 60
Maternal Uniparental Disomy of Chromosome 14 54
Uniparental Disomy, Maternal, Chromosome 14 58
Paternal Del(14)(q32.2) 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
temple syndrome:
Inheritance sporadic


Classifications:



Summaries for Temple Syndrome

OMIM : 58 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)

MalaCards based summary : Temple Syndrome, also known as temple syndrome due to maternal uniparental disomy of chromosome 14, is related to silver-russell syndrome and kagami-ogata syndrome. An important gene associated with Temple Syndrome is TEMPS (Temple Syndrome). Affiliated tissues include testes, eye and thyroid, and related phenotypes are depressed nasal bridge and anteverted nares

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 96184Disease definitionMaternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).Visit the Orphanet disease page for more resources.

Related Diseases for Temple Syndrome

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 29.5 DLK1 MEG3
2 kagami-ogata syndrome 28.4 DLK1 MEG3 PPIEL RTL1
3 houlston ironton temple syndrome 12.1
4 atrioventricular septal defect with blepharophimosis and anal and radial defects 11.1
5 curry-jones syndrome 11.1
6 west syndrome 10.2
7 prader-willi syndrome 9.9
8 autism 9.9
9 autism spectrum disorder 9.9
10 thyroid cancer 9.9
11 chromosomal triplication 9.9
12 mosaic trisomy 14 9.9
13 myelodysplastic syndrome 9.5 DLK1 MEG3

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:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 33 occasional (7.5%) HP:0005280
2 anteverted nares 33 occasional (7.5%) HP:0000463
3 hypertriglyceridemia 33 occasional (7.5%) HP:0002155
4 cleft palate 33 occasional (7.5%) HP:0000175
5 cryptorchidism 33 occasional (7.5%) HP:0000028
6 decreased testicular size 33 occasional (7.5%) HP:0008734
7 bifid uvula 33 occasional (7.5%) HP:0000193
8 posteriorly rotated ears 33 occasional (7.5%) HP:0000358
9 maturity-onset diabetes of the young 33 occasional (7.5%) HP:0004904
10 frontal bossing 33 HP:0002007
11 clinodactyly 33 HP:0030084
12 high palate 33 HP:0000218
13 hydrocephalus 33 HP:0000238
14 scoliosis 33 HP:0002650
15 delayed speech and language development 33 HP:0000750
16 short stature 33 HP:0004322
17 flexion contracture 33 HP:0001371
18 prominent forehead 33 HP:0011220
19 micrognathia 33 HP:0000347
20 feeding difficulties 33 HP:0011968
21 short foot 33 HP:0001773
22 intrauterine growth retardation 33 HP:0001511
23 recurrent otitis media 33 HP:0000403
24 short philtrum 33 HP:0000322
25 small hand 33 HP:0200055
26 joint hypermobility 33 HP:0001382
27 hypercholesterolemia 33 HP:0003124
28 wide nose 33 HP:0000445
29 premature birth 33 HP:0001622
30 generalized hypotonia 33 HP:0001290
31 truncal obesity 33 HP:0001956
32 relative macrocephaly 33 HP:0004482
33 small for gestational age 33 HP:0001518
34 overweight 33 HP:0025502

Symptoms via clinical synopsis from OMIM:

58
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%)
fine motor/coordination problems (12%)
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

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 30

Anatomical Context for Temple Syndrome

MalaCards organs/tissues related to Temple Syndrome:

42
Testes, Eye, Thyroid

Publications for Temple Syndrome

Articles related to Temple Syndrome:

(show all 20)
# Title Authors Year
1
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. ( 30655999 )
2019
2
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. ( 30836360 )
2019
3
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. ( 30846001 )
2019
4
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. ( 29159982 )
2018
5
Molecular and clinical studies in 8 patients with Temple syndrome. ( 29468661 )
2018
6
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. ( 30181735 )
2018
7
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders. ( 30227764 )
2018
8
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. ( 28640239 )
2017
9
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. ( 28588434 )
2017
10
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. ( 28635951 )
2017
11
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. ( 26867509 )
2016
12
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. ( 27632690 )
2016
13
A rare cause of temple syndrome. ( 27383220 )
2016
14
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
15
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
16
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. ( 26541061 )
2015
17
New patients with temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. ( 26333654 )
2015
18
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. ( 26395259 )
2015
19
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. ( 24891339 )
2014
20
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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