MCID: TMP012
MIFTS: 34

Temple Syndrome

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

Aliases & Classifications for Temple Syndrome

MalaCards integrated aliases for Temple Syndrome:

Name: Temple Syndrome 57 53 59 29 73
Maternal Uniparental Disomy of Chromosome 14 53 59
Upd(14)mat 53 59
Motor Developmental Delay Due to 14q32.2 Paternally Expressed Gene Defect 59
Uniparental Disomy, Maternal, Chromosome 14 57
Paternal 14q32.2 Hypomethylation Syndrome 59
Paternal 14q32.2 Microdeletion Syndrome 59
Paternal Monosomy 14q32.2 59
Paternal Del(14)(q32.2) 59

Characteristics:

Orphanet epidemiological data:

59
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;
paternal 14q32.2 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
paternal 14q32.2 hypomethylation syndrome
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;

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 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 eye, testes and thyroid, and related phenotypes are cryptorchidism and cleft palate

Related Diseases for Temple Syndrome

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

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 29.1 DLK1 MEG3
2 kagami-ogata syndrome 26.6 DLK1 MEG3 PPIEL RTL1
3 houlston ironton temple syndrome 11.9
4 atrioventricular septal defect with blepharophimosis and anal and radial defects 10.9
5 curry-jones syndrome 10.9
6 prader-willi syndrome 9.8
7 thyroid cancer 9.8
8 thyroiditis 9.8
9 myelodysplastic syndrome 9.2 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)

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

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
Eye, Testes, Thyroid

Publications for Temple Syndrome

Articles related to Temple Syndrome:

(show all 15)
# 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
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. ( 28640239 )
2017
4
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. ( 28588434 )
2017
5
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. ( 28635951 )
2017
6
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. ( 26867509 )
2016
7
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. ( 27632690 )
2016
8
A rare cause of temple syndrome. ( 27383220 )
2016
9
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
10
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
11
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. ( 26541061 )
2015
12
New patients with temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. ( 26333654 )
2015
13
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. ( 26395259 )
2015
14
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. ( 24891339 )
2014
15
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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