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 53 49 28 69
Maternal Uniparental Disomy of Chromosome 14 49 55
Upd(14)mat 49 55
Motor Developmental Delay Due to 14q32.2 Paternally Expressed Gene Defect 55
Uniparental Disomy, Maternal, Chromosome 14 53
Paternal 14q32.2 Hypomethylation Syndrome 55
Paternal 14q32.2 Microdeletion Syndrome 55
Paternal Monosomy 14q32.2 55
Paternal Del(14)(q32.2) 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
temple syndrome:
Inheritance sporadic


Classifications:



Summaries for Temple Syndrome

OMIM : 53 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, and has symptoms including frontal bossing, clinodactyly and high palate. An important gene associated with Temple Syndrome is TEMPS (Temple Syndrome). Affiliated tissues include testes, eye and thyroid.

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 27.6 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

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:

53
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 Gastroin testinal:
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:

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

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 28

Anatomical Context for Temple Syndrome

MalaCards organs/tissues related to Temple Syndrome:

38
Testes, Eye, Thyroid

Publications for Temple Syndrome

Articles related to Temple Syndrome:

(show all 14)
# Title Authors Year
1
Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. ( 29159982 )
2018
2
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. ( 28588434 )
2017
3
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. ( 28635951 )
2017
4
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. ( 28640239 )
2017
5
Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos. ( 26867509 )
2016
6
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. ( 27632690 )
2016
7
A rare cause of temple syndrome. ( 27383220 )
2016
8
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
9
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
10
The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. ( 26541061 )
2015
11
New patients with temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer. ( 26333654 )
2015
12
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. ( 26395259 )
2015
13
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. ( 24891339 )
2014
14
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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