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 57 53 59 29 73
Temple Syndrome Due to Maternal Uniparental Disomy of Chromosome 14 53 59
Upd(14)mat 53 59
Temple Syndrome Due to Paternal 14q32.2 Hypomethylation 59
Temple Syndrome Due to Paternal 14q32.2 Microdeletion 59
Maternal Uniparental Disomy of Chromosome 14 53
Uniparental Disomy, Maternal, Chromosome 14 57
Paternal Del(14)(q32.2) 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
isolated cases

Miscellaneous:
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)


HPO:

32
temple syndrome:
Inheritance sporadic


Classifications:



Summaries for Temple Syndrome

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)

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 frontal bossing and clinodactyly

NIH Rare Diseases : 53 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 11)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 29.7 DLK1 MEG3
2 kagami-ogata syndrome 28.9 DLK1 MEG3 PPIEL RTL1
3 houlston ironton temple syndrome 12.1
4 atrioventricular septal defect with blepharophimosis and anal and radial defects 11.0
5 curry-jones syndrome 11.0
6 west syndrome 10.2
7 prader-willi syndrome 9.9
8 thyroid cancer 9.9
9 chromosomal triplication 9.9
10 mosaic trisomy 14 9.9
11 myelodysplastic syndrome 9.7 DLK1 MEG3

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



Diseases related to Temple Syndrome

Symptoms & Phenotypes for Temple Syndrome

Symptoms via clinical synopsis from OMIM:

57
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 development 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

Human phenotypes related to Temple Syndrome:

32 (show all 34)
# 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 scoliosis 32 HP:0002650
6 depressed nasal bridge 32 occasional (7.5%) HP:0005280
7 delayed speech and language development 32 HP:0000750
8 anteverted nares 32 occasional (7.5%) HP:0000463
9 short stature 32 HP:0004322
10 flexion contracture 32 HP:0001371
11 prominent forehead 32 HP:0011220
12 hypertriglyceridemia 32 occasional (7.5%) HP:0002155
13 cleft palate 32 occasional (7.5%) HP:0000175
14 micrognathia 32 HP:0000347
15 feeding difficulties 32 HP:0011968
16 short foot 32 HP:0001773
17 cryptorchidism 32 occasional (7.5%) HP:0000028
18 intrauterine growth retardation 32 HP:0001511
19 recurrent otitis media 32 HP:0000403
20 short philtrum 32 HP:0000322
21 decreased testicular size 32 occasional (7.5%) 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 premature birth 32 HP:0001622
27 bifid uvula 32 occasional (7.5%) HP:0000193
28 generalized hypotonia 32 HP:0001290
29 truncal obesity 32 HP:0001956
30 relative macrocephaly 32 HP:0004482
31 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
32 small for gestational age 32 HP:0001518
33 maturity-onset diabetes of the young 32 occasional (7.5%) HP:0004904
34 overweight 32 HP:0025502

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:

41
Testes, Eye, Thyroid

Publications for Temple Syndrome

Articles related to Temple Syndrome:

(show all 17)
# Title Authors Year
1
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. ( 29159982 )
2018
2
Molecular and clinical studies in 8 patients with Temple syndrome. ( 29468661 )
2018
3
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. ( 30181735 )
2018
4
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders. ( 30227764 )
2018
5
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. ( 28640239 )
2017
6
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. ( 28588434 )
2017
7
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. ( 28635951 )
2017
8
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. ( 26867509 )
2016
9
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. ( 27632690 )
2016
10
A rare cause of temple syndrome. ( 27383220 )
2016
11
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
12
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
13
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. ( 26395259 )
2016
14
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. ( 26541061 )
2015
15
New patients with temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. ( 26333654 )
2015
16
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. ( 24891339 )
2014
17
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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