TEMTYS
MCID: TMT003
MIFTS: 39

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 56 12 52 58 73 29 13 6 43 15 39 71
Mental Retardation with or Without Craniofacial Dysmorphism, Ocular Coloboma, or Abnormal Corpus Callosum 56 73
Craniofacial Dysmorphism with Ocular Coloboma Absent Corpus Callosum and Aortic Dilatation 12 52
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome 12 58
Dysmorphism, Corpus Callosum Agenesis and Colobomas 12 52
Temtamy-Shalash Syndrome 12 58
Temtys 56 73

Characteristics:

Orphanet epidemiological data:

58
temtamy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
skeletal and facial features are variable


HPO:

31
temtamy syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Temtamy Syndrome

NIH Rare Diseases : 52 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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Temtamy Syndrome is C12orf57 (Chromosome 12 Open Reading Frame 57). Affiliated tissues include brain, thalamus and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has material basis in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31.

OMIM : 56 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 : 73 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 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 autosomal recessive disease 10.1
4 microphthalmia 10.1
5 visual epilepsy 10.1
6 seizure disorder 10.1
7 autosomal dominant non-syndromic intellectual disability 6 9.9 MANSC1 FAM234B
8 colobomatous microphthalmia 9.7 VAX1 C12orf57
9 cantu syndrome 7.9 RERGL NRIP2 MANSC1 IQSEC3 FAM234B ETFRF1

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



Diseases related to Temtamy Syndrome

Symptoms & Phenotypes for Temtamy Syndrome

Human phenotypes related to Temtamy Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 iris coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000612
7 chorioretinal coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000567
8 aplasia/hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007370
9 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
10 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
11 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
14 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
15 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
16 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
17 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
18 aortic aneurysm 31 frequent (33%) HP:0004942
19 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
20 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
21 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
22 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
23 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
24 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
25 abnormal palate morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000174
26 intellectual disability, mild 31 HP:0001256
27 frontal bossing 31 HP:0002007
28 myopia 31 HP:0000545
29 talipes equinovarus 31 HP:0001762
30 dental crowding 31 HP:0000678
31 lens luxation 31 HP:0012019
32 downslanted palpebral fissures 31 HP:0000494
33 highly arched eyebrow 31 HP:0002553
34 long philtrum 31 HP:0000343
35 ventriculomegaly 31 HP:0002119
36 hip dislocation 31 HP:0002827
37 agenesis of corpus callosum 31 HP:0001274
38 aortic regurgitation 31 HP:0001659
39 generalized hypotonia 31 HP:0001290
40 aortic dilatation 58 Frequent (79-30%)
41 short 2nd toe 31 HP:0001885
42 hypoplasia of teeth 31 HP:0000685
43 lop ear 31 HP:0000394
44 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypotonia
enlarged ventricles
agenesis of the corpus callosum
mental retardation
more
Skeletal Feet:
pes planus
talipes equinovarus
brachydactyly (2nd-5th toes)

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

Skeletal Pelvis:
hip dislocation

Neurologic Behavioral Psychiatric Manifestations:
autistic features

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

Head And Neck Eyes:
hypertelorism
myopia
downslanting palpebral fissures
arched eyebrows
'key-hole' iris, retina, choroid coloboma
more
Head And Neck Face:
frontal bossing
micrognathia
long face
long philtrum

Head And Neck Teeth:
dental crowding
hypoplastic teeth

Head And Neck Nose:
beaked nose

Skeletal Limbs:
genua valgum

Clinical features from OMIM:

218340

GenomeRNAi Phenotypes related to Temtamy Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell size GR00098-A-4 8.62 CREBL2 NRIP2

Drugs & Therapeutics for Temtamy Syndrome

Search Clinical Trials , NIH Clinical Center for Temtamy Syndrome

Cochrane evidence based reviews: 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:

40
Brain, Thalamus, Eye, Heart, Testes, Retina

Publications for Temtamy Syndrome

Articles related to Temtamy Syndrome:

(show all 12)
# Title Authors PMID Year
1
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. 6 56
24798461 2014
2
A newly recognized autosomal recessive syndrome affecting neurologic function and vision. 6 56
23633300 2013
3
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. 6 56
23453665 2013
4
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. 56 6
23453666 2013
5
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
6
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. 56 61
17632789 2007
7
Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 56 61
14564155 2003
8
Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? 56 61
10955486 2000
9
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. 61 52
29383837 2018
10
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. 56
12825074 2003
11
New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. 56
8818452 1996
12
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review. 61
31853307 2020

Variations for Temtamy Syndrome

ClinVar genetic disease variations for Temtamy Syndrome:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C12orf57 NC_000012.11:g.(?_7053265)_(7055105_?)deldeletion Pathogenic 583666 12:7053265-7055105
2 C12orf57 NM_138425.4(C12orf57):c.43C>T (p.Gln15Ter)SNV Pathogenic 620193 rs1565574197 12:7053327-7053327 12:6944164-6944164
3 C12orf57 NM_138425.4(C12orf57):c.161_162del (p.Val54fs)deletion Pathogenic 662818 12:7053746-7053747 12:6944583-6944584
4 C12orf57 NM_138425.4(C12orf57):c.182del (p.Ile61fs)deletion Pathogenic 802816 12:7053768-7053768 12:6944605-6944605
5 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val)SNV Pathogenic 41942 rs587776954 12:7053285-7053285 12:6944122-6944122
6 C12orf57 NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln)SNV Pathogenic 41943 rs587776955 12:7053738-7053738 12:6944575-6944575
7 C12orf57 NM_138425.4(C12orf57):c.53-2A>GSNV Pathogenic 242885 rs1114167293 12:7053637-7053637 12:6944474-6944474
8 C12orf57 NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)SNV Likely pathogenic 155861 rs587777698 12:7053770-7053770 12:6944607-6944607
9 C12orf57 NM_138425.4(C12orf57):c.52+1G>TSNV Likely pathogenic 661984 12:7053337-7053337 12:6944174-6944174
10 C12orf57 NM_138425.4(C12orf57):c.53-1G>ASNV Likely pathogenic 534668 rs374836404 12:7053638-7053638 12:6944475-6944475
11 C12orf57 NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)SNV Conflicting interpretations of pathogenicity 210550 rs139938808 12:7053672-7053672 12:6944509-6944509
12 C12orf57 NM_138425.4(C12orf57):c.136_138del (p.Asp46del)deletion Uncertain significance 210546 rs781925545 12:7053720-7053722 12:6944557-6944559
13 C12orf57 NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg)SNV Uncertain significance 210548 rs139068225 12:7054961-7054961 12:6945798-6945798
14 C12orf57 NM_138425.4(C12orf57):c.310G>A (p.Ala104Thr)SNV Uncertain significance 534667 rs1555146504 12:7055014-7055014 12:6945851-6945851
15 C12orf57 NM_138425.4(C12orf57):c.62C>T (p.Ala21Val)SNV Uncertain significance 466311 rs146024802 12:7053648-7053648 12:6944485-6944485
16 C12orf57 NM_138425.4(C12orf57):c.88C>G (p.Pro30Ala)SNV Uncertain significance 579291 rs1349419442 12:7053674-7053674 12:6944511-6944511
17 C12orf57 NM_138425.4(C12orf57):c.28G>C (p.Ala10Pro)SNV Uncertain significance 583017 rs782077846 12:7053312-7053312 12:6944149-6944149
18 C12orf57 NM_138425.4(C12orf57):c.32T>G (p.Leu11Trp)SNV Uncertain significance 572527 rs1417249758 12:7053316-7053316 12:6944153-6944153
19 C12orf57 NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr)SNV Uncertain significance 575714 rs201246220 12:7053321-7053321 12:6944158-6944158
20 C12orf57 NM_138425.4(C12orf57):c.109G>A (p.Asp37Asn)SNV Uncertain significance 575129 rs782238229 12:7053695-7053695 12:6944532-6944532
21 C12orf57 NM_138425.4(C12orf57):c.46G>A (p.Ala16Thr)SNV Uncertain significance 571619 rs782651043 12:7053330-7053330 12:6944167-6944167
22 C12orf57 NM_138425.4(C12orf57):c.56T>C (p.Val19Ala)SNV Uncertain significance 571882 rs1565574736 12:7053642-7053642 12:6944479-6944479
23 C12orf57 NM_138425.4(C12orf57):c.127G>T (p.Ala43Ser)SNV Uncertain significance 581132 rs782311451 12:7053713-7053713 12:6944550-6944550
24 covers 36 genes, none of which curated to show dosage sensitivity NC_000012.11:g.(?_6945914)_(8248706_?)dupduplication Uncertain significance 830465 12:6945914-8248706
25 C12orf57 NM_138425.4(C12orf57):c.17C>G (p.Thr6Ser)SNV Uncertain significance 862158 12:7053301-7053301 12:6944138-6944138
26 C12orf57 NM_138425.4(C12orf57):c.44A>G (p.Gln15Arg)SNV Uncertain significance 862713 12:7053328-7053328 12:6944165-6944165
27 C12orf57 NM_138425.4(C12orf57):c.52G>A (p.Val18Met)SNV Uncertain significance 852238 12:7053336-7053336 12:6944173-6944173
28 C12orf57 NM_138425.4(C12orf57):c.99A>G (p.Ala33=)SNV Uncertain significance 837452 12:7053685-7053685 12:6944522-6944522
29 C12orf57 NM_138425.4(C12orf57):c.115G>A (p.Ala39Thr)SNV Uncertain significance 847149 12:7053701-7053701 12:6944538-6944538
30 C12orf57 NM_138425.4(C12orf57):c.116C>T (p.Ala39Val)SNV Uncertain significance 857547 12:7053702-7053702 12:6944539-6944539
31 C12orf57 NM_138425.4(C12orf57):c.193G>C (p.Val65Leu)SNV Uncertain significance 856317 12:7053779-7053779 12:6944616-6944616
32 C12orf57 NM_138425.4(C12orf57):c.202G>A (p.Ala68Thr)SNV Uncertain significance 862519 12:7053788-7053788 12:6944625-6944625
33 C12orf57 NM_138425.4(C12orf57):c.228A>C (p.Glu76Asp)SNV Uncertain significance 835712 12:7053814-7053814 12:6944651-6944651
34 C12orf57 NM_138425.4(C12orf57):c.247C>T (p.Arg83Cys)SNV Uncertain significance 842603 12:7054951-7054951 12:6945788-6945788
35 C12orf57 NM_138425.4(C12orf57):c.356C>T (p.Ala119Val)SNV Uncertain significance 836585 12:7055060-7055060 12:6945897-6945897
36 C12orf57 NM_138425.4(C12orf57):c.169G>A (p.Val57Met)SNV Uncertain significance 663640 12:7053755-7053755 12:6944592-6944592
37 C12orf57 NM_138425.4(C12orf57):c.192G>C (p.Glu64Asp)SNV Uncertain significance 661160 12:7053778-7053778 12:6944615-6944615
38 C12orf57 NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys)SNV Uncertain significance 640670 12:7054967-7054967 12:6945804-6945804
39 C12orf57 NM_138425.4(C12orf57):c.272A>G (p.Gln91Arg)SNV Uncertain significance 662873 12:7054976-7054976 12:6945813-6945813
40 covers 46 genes, none of which curated to show dosage sensitivity NC_000012.11:g.(?_6945914)_(9027627_?)dupduplication Uncertain significance 659602 12:6945914-9027627
41 C12orf57 NM_138425.4(C12orf57):c.311C>T (p.Ala104Val)SNV Uncertain significance 665587 12:7055015-7055015 12:6945852-6945852
42 C12orf57 NM_138425.4(C12orf57):c.328A>G (p.Met110Val)SNV Uncertain significance 647324 12:7055032-7055032 12:6945869-6945869
43 C12orf57 NM_138425.4(C12orf57):c.10G>A (p.Ala4Thr)SNV Uncertain significance 660590 12:7053294-7053294 12:6944131-6944131
44 C12orf57 NM_138425.4(C12orf57):c.62C>G (p.Ala21Gly)SNV Uncertain significance 658868 12:7053648-7053648 12:6944485-6944485
45 C12orf57 NM_138425.4(C12orf57):c.53-3C>TSNV Likely benign 466310 rs191711101 12:7053636-7053636 12:6944473-6944473
46 C12orf57 NM_138425.4(C12orf57):c.334C>T (p.Leu112=)SNV Likely benign 466309 rs1200757086 12:7055038-7055038 12:6945875-6945875
47 C12orf57 NM_138425.4(C12orf57):c.138C>T (p.Asp46=)SNV Likely benign 534670 rs782095567 12:7053724-7053724 12:6944561-6944561
48 C12orf57 NM_138425.4(C12orf57):c.333C>T (p.Thr111=)SNV Likely benign 534669 rs1456146923 12:7055037-7055037 12:6945874-6945874
49 C12orf57 NM_138425.4(C12orf57):c.9C>T (p.Ser3=)SNV Likely benign 772565 12:7053293-7053293 12:6944130-6944130
50 C12orf57 NM_138425.4(C12orf57):c.42G>A (p.Glu14=)SNV Likely benign 772156 12:7053326-7053326 12:6944163-6944163

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

73
# Symbol AA change Variation ID SNP ID
1 C12orf57 p.Leu51Gln VAR_069774 rs587776955

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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