TEMTYS
MCID: TMT003
MIFTS: 32

Temtamy Syndrome (TEMTYS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Temtamy Syndrome

MalaCards integrated aliases for Temtamy Syndrome:

Name: Temtamy Syndrome 57 53 59 75 29 13 6 40 73
Mental Retardation with or Without Craniofacial Dysmorphism, Ocular Coloboma, or Abnormal Corpus Callosum 57 75
Temtys 57 75
Craniofacial Dysmorphism with Ocular Coloboma Absent Corpus Callosum and Aortic Dilatation 53
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome 59
Dysmorphism, Corpus Callosum Agenesis and Colobomas 53
Temtamy-Shalash Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
temtamy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
skeletal and facial features are variable


HPO:

32
temtamy syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Temtamy Syndrome

NIH Rare Diseases : 53 Temtamy syndrome is a developmental neurological disorder, meaning that it affects the way the brain is formed and how well it functions. In most cases, the bundle of nerve fibers (the corpus callosum) that connects the two sides of the brain is partially or completely missing. Other symptoms may include seizures, changes in the size or function of the eyes, heart problems, intellectual disability, and developmental delay. The syndrome appears to be more common in people from the Middle East, especially Saudi Arabia. Temtamy syndrome is caused by genetic changes (pathogenic variants or mutations) in the C12orf57 gene. The syndrome is inherited in an autosomal recessive manner. Diagnosis is based on observing symptoms of the syndrome and the results of brain imaging. The diagnosis can be confirmed with genetic testing. Treatment for Temtamy syndrome may include medications to treat seizures, as well as therapies to help manage developmental delays.

MalaCards based summary : Temtamy Syndrome, also known as mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum, is related to coloboma of macula and autosomal recessive disease. An important gene associated with Temtamy Syndrome is C12orf57 (Chromosome 12 Open Reading Frame 57). Affiliated tissues include brain, thalamus and heart, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013). (218340)

UniProtKB/Swiss-Prot : 75 Temtamy syndrome: A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus.

Related Diseases for Temtamy Syndrome

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

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.0
2 autosomal recessive disease 10.0
3 colobomatous microphthalmia 9.8 C12orf57 RNU7-1

Symptoms & Phenotypes for Temtamy Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
myopia
downslanting palpebral fissures
'key-hole' iris, retina, choroid coloboma
dislocated lens (upward)
more
Head And Neck Face:
frontal bossing
long philtrum
micrognathia
long face

Skeletal Feet:
pes planus
talipes equinovarus
brachydactyly (2nd-5th toes)

Head And Neck Teeth:
dental crowding
hypoplastic teeth

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Hands:
brachydactyly (2nd-5th fingers)
bulbous thumbs

Head And Neck Ears:
low-set ears
simple ears
lop ears

Neurologic Central Nervous System:
global developmental delay
hypotonia
enlarged ventricles
agenesis of the corpus callosum
mental retardation
more
Skeletal Pelvis:
hip dislocation

Head And Neck Nose:
beaked nose

Skeletal Limbs:
genua valgum


Clinical features from OMIM:

218340

Human phenotypes related to Temtamy Syndrome:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
10 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
11 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
12 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
13 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
14 chorioretinal coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000567
15 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
16 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
17 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
18 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
19 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
20 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
21 iris coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000612
22 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
23 aplasia/hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007370
24 agenesis of corpus callosum 32 HP:0001274
25 frontal bossing 32 HP:0002007
26 seizures 32 HP:0001250
27 intellectual disability, mild 32 HP:0001256
28 long philtrum 32 HP:0000343
29 myopia 32 HP:0000545
30 aortic dilatation 59 Frequent (79-30%)
31 ventriculomegaly 32 HP:0002119
32 talipes equinovarus 32 HP:0001762
33 hip dislocation 32 HP:0002827
34 dental crowding 32 HP:0000678
35 lens luxation 32 HP:0012019
36 downslanted palpebral fissures 32 HP:0000494
37 highly arched eyebrow 32 HP:0002553
38 abnormality of the palate 59 Occasional (29-5%)
39 generalized hypotonia 32 HP:0001290
40 aortic regurgitation 32 HP:0001659
41 short 2nd toe 32 HP:0001885
42 lop ear 32 HP:0000394
43 hypoplasia of teeth 32 HP:0000685
44 aortic aneurysm 32 frequent (33%) HP:0004942
45 abnormal palate morphology 32 occasional (7.5%) HP:0000174

Drugs & Therapeutics for Temtamy Syndrome

Search Clinical Trials , NIH Clinical Center for Temtamy Syndrome

Genetic Tests for Temtamy Syndrome

Genetic tests related to Temtamy Syndrome:

# Genetic test Affiliating Genes
1 Temtamy Syndrome 29 C12orf57

Anatomical Context for Temtamy Syndrome

MalaCards organs/tissues related to Temtamy Syndrome:

41
Brain, Thalamus, Heart, Testes, Eye, Retina

Publications for Temtamy Syndrome

Articles related to Temtamy Syndrome:

# Title Authors Year
1
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. ( 29383837 )
2018
2
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. ( 17632789 )
2007
3
Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? ( 10955486 )
2000

Variations for Temtamy Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Temtamy Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 C12orf57 p.Leu51Gln VAR_069774 rs587776955

ClinVar genetic disease variations for Temtamy Syndrome:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
2 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 GRCh38 Chromosome 12, 6944122: 6944122
3 C12orf57 NM_138425.3(C12orf57): c.152T> A (p.Leu51Gln) single nucleotide variant Pathogenic rs587776955 GRCh37 Chromosome 12, 7053738: 7053738
4 C12orf57 NM_138425.3(C12orf57): c.152T> A (p.Leu51Gln) single nucleotide variant Pathogenic rs587776955 GRCh38 Chromosome 12, 6944575: 6944575
5 C12orf57 NM_138425.3(C12orf57): c.184C> T (p.Gln62Ter) single nucleotide variant Likely pathogenic rs587777698 GRCh37 Chromosome 12, 7053770: 7053770
6 C12orf57 NM_138425.3(C12orf57): c.184C> T (p.Gln62Ter) single nucleotide variant Likely pathogenic rs587777698 GRCh38 Chromosome 12, 6944607: 6944607
7 C12orf57 NM_138425.3(C12orf57): c.86C> T (p.Ala29Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139938808 GRCh37 Chromosome 12, 7053672: 7053672
8 C12orf57 NM_138425.3(C12orf57): c.86C> T (p.Ala29Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139938808 GRCh38 Chromosome 12, 6944509: 6944509
9 C12orf57 NM_138425.3(C12orf57): c.136_138delGAC (p.Asp46del) deletion Uncertain significance rs797045420 GRCh37 Chromosome 12, 7053722: 7053724
10 C12orf57 NM_138425.3(C12orf57): c.136_138delGAC (p.Asp46del) deletion Uncertain significance rs797045420 GRCh38 Chromosome 12, 6944559: 6944561
11 C12orf57 NM_138425.3(C12orf57): c.257A> G (p.Lys86Arg) single nucleotide variant Uncertain significance rs139068225 GRCh38 Chromosome 12, 6945798: 6945798
12 C12orf57 NM_138425.3(C12orf57): c.257A> G (p.Lys86Arg) single nucleotide variant Uncertain significance rs139068225 GRCh37 Chromosome 12, 7054961: 7054961
13 C12orf57 NM_138425.3(C12orf57): c.30C> T (p.Ala10=) single nucleotide variant Benign/Likely benign rs199643110 GRCh37 Chromosome 12, 7053314: 7053314
14 C12orf57 NM_138425.3(C12orf57): c.30C> T (p.Ala10=) single nucleotide variant Benign/Likely benign rs199643110 GRCh38 Chromosome 12, 6944151: 6944151
15 C12orf57 NM_138425.3(C12orf57): c.229+25_229+43del19 deletion Benign/Likely benign rs199730337 GRCh37 Chromosome 12, 7053840: 7053858
16 C12orf57 NM_138425.3(C12orf57): c.229+25_229+43del19 deletion Benign/Likely benign rs199730337 GRCh38 Chromosome 12, 6944677: 6944695
17 C12orf57 NM_138425.3(C12orf57): c.62C> T (p.Ala21Val) single nucleotide variant Uncertain significance rs146024802 GRCh37 Chromosome 12, 7053648: 7053648
18 C12orf57 NM_138425.3(C12orf57): c.62C> T (p.Ala21Val) single nucleotide variant Uncertain significance rs146024802 GRCh38 Chromosome 12, 6944485: 6944485
19 C12orf57 NM_138425.3(C12orf57): c.53-3C> T single nucleotide variant Uncertain significance rs191711101 GRCh38 Chromosome 12, 6944473: 6944473
20 C12orf57 NM_138425.3(C12orf57): c.53-3C> T single nucleotide variant Uncertain significance rs191711101 GRCh37 Chromosome 12, 7053636: 7053636
21 C12orf57 NM_138425.3(C12orf57): c.334C> T (p.Leu112=) single nucleotide variant Likely benign GRCh38 Chromosome 12, 6945875: 6945875
22 C12orf57 NM_138425.3(C12orf57): c.334C> T (p.Leu112=) single nucleotide variant Likely benign GRCh37 Chromosome 12, 7055038: 7055038
23 C12orf57 NM_138425.3(C12orf57): c.53-1G> A single nucleotide variant Likely pathogenic rs374836404 GRCh38 Chromosome 12, 6944475: 6944475
24 C12orf57 NM_138425.3(C12orf57): c.53-1G> A single nucleotide variant Likely pathogenic rs374836404 GRCh37 Chromosome 12, 7053638: 7053638
25 C12orf57 NM_138425.3(C12orf57): c.138C> T (p.Asp46=) single nucleotide variant Likely benign rs782095567 GRCh38 Chromosome 12, 6944561: 6944561
26 C12orf57 NM_138425.3(C12orf57): c.138C> T (p.Asp46=) single nucleotide variant Likely benign rs782095567 GRCh37 Chromosome 12, 7053724: 7053724
27 C12orf57 NM_138425.3(C12orf57): c.333C> T (p.Thr111=) single nucleotide variant Likely benign GRCh38 Chromosome 12, 6945874: 6945874
28 C12orf57 NM_138425.3(C12orf57): c.333C> T (p.Thr111=) single nucleotide variant Likely benign GRCh37 Chromosome 12, 7055037: 7055037
29 C12orf57 NM_138425.3(C12orf57): c.297A> G (p.Ser99=) single nucleotide variant Benign rs149881070 GRCh37 Chromosome 12, 7055001: 7055001
30 C12orf57 NM_138425.3(C12orf57): c.297A> G (p.Ser99=) single nucleotide variant Benign rs149881070 GRCh38 Chromosome 12, 6945838: 6945838
31 C12orf57 NM_138425.3(C12orf57): c.310G> A (p.Ala104Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6945851: 6945851
32 C12orf57 NM_138425.3(C12orf57): c.310G> A (p.Ala104Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7055014: 7055014
33 C12orf57 NC_000012.11: g.(?_7053265)_(7055105_?)del deletion Pathogenic GRCh37 Chromosome 12, 7053265: 7055105
34 C12orf57 NM_138425.3(C12orf57): c.28G> C (p.Ala10Pro) single nucleotide variant Uncertain significance rs782077846 GRCh38 Chromosome 12, 6944149: 6944149
35 C12orf57 NM_138425.3(C12orf57): c.28G> C (p.Ala10Pro) single nucleotide variant Uncertain significance rs782077846 GRCh37 Chromosome 12, 7053312: 7053312
36 C12orf57 NM_138425.3(C12orf57): c.32T> G (p.Leu11Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6944153: 6944153
37 C12orf57 NM_138425.3(C12orf57): c.32T> G (p.Leu11Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7053316: 7053316
38 C12orf57 NM_138425.3(C12orf57): c.37G> A (p.Ala13Thr) single nucleotide variant Uncertain significance rs201246220 GRCh37 Chromosome 12, 7053321: 7053321
39 C12orf57 NM_138425.3(C12orf57): c.37G> A (p.Ala13Thr) single nucleotide variant Uncertain significance rs201246220 GRCh38 Chromosome 12, 6944158: 6944158
40 C12orf57 NM_138425.3(C12orf57): c.88C> G (p.Pro30Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6944511: 6944511
41 C12orf57 NM_138425.3(C12orf57): c.88C> G (p.Pro30Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7053674: 7053674
42 C12orf57 NM_138425.3(C12orf57): c.109G> A (p.Asp37Asn) single nucleotide variant Uncertain significance rs782238229 GRCh37 Chromosome 12, 7053695: 7053695
43 C12orf57 NM_138425.3(C12orf57): c.109G> A (p.Asp37Asn) single nucleotide variant Uncertain significance rs782238229 GRCh38 Chromosome 12, 6944532: 6944532
44 C12orf57 NM_138425.3(C12orf57): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs782651043 GRCh37 Chromosome 12, 7053330: 7053330
45 C12orf57 NM_138425.3(C12orf57): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs782651043 GRCh38 Chromosome 12, 6944167: 6944167
46 C12orf57 NM_138425.3(C12orf57): c.56T> C (p.Val19Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7053642: 7053642
47 C12orf57 NM_138425.3(C12orf57): c.56T> C (p.Val19Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6944479: 6944479
48 C12orf57 NM_138425.3(C12orf57): c.127G> T (p.Ala43Ser) single nucleotide variant Uncertain significance rs782311451 GRCh37 Chromosome 12, 7053713: 7053713
49 C12orf57 NM_138425.3(C12orf57): c.127G> T (p.Ala43Ser) single nucleotide variant Uncertain significance rs782311451 GRCh38 Chromosome 12, 6944550: 6944550

Expression for Temtamy Syndrome

Search GEO for disease gene expression data for Temtamy Syndrome.

Pathways for Temtamy Syndrome

GO Terms for Temtamy Syndrome

Sources for Temtamy Syndrome

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