TEMTYS
MCID: TMT003
MIFTS: 37

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 12 20 58 72 29 13 6 44 15 39 70
Mental Retardation with or Without Craniofacial Dysmorphism, Ocular Coloboma, or Abnormal Corpus Callosum 57 72
Craniofacial Dysmorphism with Ocular Coloboma Absent Corpus Callosum and Aortic Dilatation 12 20
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome 12 58
Dysmorphism, Corpus Callosum Agenesis and Colobomas 12 20
Temtamy-Shalash Syndrome 12 58
Temtys 57 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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 retina, 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® : 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 10.1
2 alacrima, achalasia, and mental retardation syndrome 9.9
3 autosomal recessive disease 9.9
4 microphthalmia 9.9
5 seizure disorder 9.9

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 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
10 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
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 agenesis of corpus callosum 31 HP:0001274
27 frontal bossing 31 HP:0002007
28 intellectual disability, mild 31 HP:0001256
29 myopia 31 HP:0000545
30 talipes equinovarus 31 HP:0001762
31 dental crowding 31 HP:0000678
32 lens luxation 31 HP:0012019
33 downslanted palpebral fissures 31 HP:0000494
34 highly arched eyebrow 31 HP:0002553
35 long philtrum 31 HP:0000343
36 ventriculomegaly 31 HP:0002119
37 hip dislocation 31 HP:0002827
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®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
micrognathia
long face
long philtrum

Head And Neck Eyes:
hypertelorism
myopia
downslanting palpebral fissures
arched eyebrows
'key-hole' iris, retina, choroid coloboma
more
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

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 Teeth:
dental crowding
hypoplastic teeth

Head And Neck Nose:
beaked nose

Skeletal Limbs:
genua valgum

Clinical features from OMIM®:

218340 (Updated 05-Apr-2021)

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, Retina

Publications for Temtamy Syndrome

Articles related to Temtamy Syndrome:

(show all 15)
# Title Authors PMID Year
1
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. 61 20 6
29383837 2018
2
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. 57 6
24798461 2014
3
A newly recognized autosomal recessive syndrome affecting neurologic function and vision. 57 6
23633300 2013
4
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. 6 57
23453666 2013
5
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia. 57 6
23453665 2013
6
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
7
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. 57 61
17632789 2007
8
Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 57 61
14564155 2003
9
Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? 61 57
10955486 2000
10
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
11
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 6
28454995 2017
12
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 6
28097321 2017
13
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. 57
12825074 2003
14
New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. 57
8818452 1996
15
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 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C12orf57 NC_000012.11:g.(?_7053265)_(7055105_?)del Deletion Pathogenic 583666 GRCh37: 12:7053265-7055105
GRCh38:
2 C12orf57 NM_138425.4(C12orf57):c.161_162del (p.Val54fs) Deletion Pathogenic 662818 rs782424035 GRCh37: 12:7053746-7053747
GRCh38: 12:6944583-6944584
3 C12orf57 NM_138425.4(C12orf57):c.182del (p.Ile61fs) Deletion Pathogenic 802816 rs1591674823 GRCh37: 12:7053768-7053768
GRCh38: 12:6944605-6944605
4 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val) SNV Pathogenic 41942 rs587776954 GRCh37: 12:7053285-7053285
GRCh38: 12:6944122-6944122
5 C12orf57 NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) SNV Pathogenic 155861 rs587777698 GRCh37: 12:7053770-7053770
GRCh38: 12:6944607-6944607
6 C12orf57 NM_138425.4(C12orf57):c.43C>T (p.Gln15Ter) SNV Pathogenic 620193 rs1565574197 GRCh37: 12:7053327-7053327
GRCh38: 12:6944164-6944164
7 C12orf57 NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln) SNV Pathogenic 41943 rs587776955 GRCh37: 12:7053738-7053738
GRCh38: 12:6944575-6944575
8 C12orf57 NM_138425.4(C12orf57):c.53-2A>G SNV Pathogenic 242885 rs1114167293 GRCh37: 12:7053637-7053637
GRCh38: 12:6944474-6944474
9 C12orf57 NM_138425.4(C12orf57):c.52+1G>T SNV Likely pathogenic 661984 rs782640048 GRCh37: 12:7053337-7053337
GRCh38: 12:6944174-6944174
10 C12orf57 NM_138425.4(C12orf57):c.53-1G>A SNV Likely pathogenic 534668 rs374836404 GRCh37: 12:7053638-7053638
GRCh38: 12:6944475-6944475
11 C12orf57 NM_138425.4(C12orf57):c.310G>A (p.Ala104Thr) SNV Uncertain significance 534667 rs1555146504 GRCh37: 12:7055014-7055014
GRCh38: 12:6945851-6945851
12 C12orf57 NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg) SNV Uncertain significance 210548 rs139068225 GRCh37: 12:7054961-7054961
GRCh38: 12:6945798-6945798
13 C12orf57 NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys) SNV Uncertain significance 640670 rs782145941 GRCh37: 12:7054967-7054967
GRCh38: 12:6945804-6945804
14 C12orf57 NM_138425.4(C12orf57):c.328A>G (p.Met110Val) SNV Uncertain significance 647324 rs144915095 GRCh37: 12:7055032-7055032
GRCh38: 12:6945869-6945869
15 C12orf57 NM_138425.4(C12orf57):c.192G>C (p.Glu64Asp) SNV Uncertain significance 661160 rs1555146059 GRCh37: 12:7053778-7053778
GRCh38: 12:6944615-6944615
16 C12orf57 NM_138425.4(C12orf57):c.46G>A (p.Ala16Thr) SNV Uncertain significance 571619 rs782651043 GRCh37: 12:7053330-7053330
GRCh38: 12:6944167-6944167
17 C12orf57 NM_138425.4(C12orf57):c.56T>C (p.Val19Ala) SNV Uncertain significance 571882 rs1565574736 GRCh37: 12:7053642-7053642
GRCh38: 12:6944479-6944479
18 C12orf57 NM_138425.4(C12orf57):c.32T>G (p.Leu11Trp) SNV Uncertain significance 572527 rs1417249758 GRCh37: 12:7053316-7053316
GRCh38: 12:6944153-6944153
19 C12orf57 NM_138425.4(C12orf57):c.109G>A (p.Asp37Asn) SNV Uncertain significance 575129 rs782238229 GRCh37: 12:7053695-7053695
GRCh38: 12:6944532-6944532
20 C12orf57 NM_138425.4(C12orf57):c.88C>G (p.Pro30Ala) SNV Uncertain significance 579291 rs1349419442 GRCh37: 12:7053674-7053674
GRCh38: 12:6944511-6944511
21 C12orf57 NM_138425.4(C12orf57):c.28G>C (p.Ala10Pro) SNV Uncertain significance 583017 rs782077846 GRCh37: 12:7053312-7053312
GRCh38: 12:6944149-6944149
22 C12orf57 NM_138425.4(C12orf57):c.228A>C (p.Glu76Asp) SNV Uncertain significance 835712 GRCh37: 12:7053814-7053814
GRCh38: 12:6944651-6944651
23 C12orf57 NM_138425.4(C12orf57):c.247C>T (p.Arg83Cys) SNV Uncertain significance 842603 GRCh37: 12:7054951-7054951
GRCh38: 12:6945788-6945788
24 C12orf57 NM_138425.4(C12orf57):c.17C>G (p.Thr6Ser) SNV Uncertain significance 862158 GRCh37: 12:7053301-7053301
GRCh38: 12:6944138-6944138
25 C12orf57 NM_138425.4(C12orf57):c.145A>G (p.Lys49Glu) SNV Uncertain significance 933788 GRCh37: 12:7053731-7053731
GRCh38: 12:6944568-6944568
26 C12orf57 NM_138425.4(C12orf57):c.13T>G (p.Ser5Ala) SNV Uncertain significance 938203 GRCh37: 12:7053297-7053297
GRCh38: 12:6944134-6944134
27 C12orf57 NM_138425.4(C12orf57):c.291C>G (p.Ser97Arg) SNV Uncertain significance 941706 GRCh37: 12:7054995-7054995
GRCh38: 12:6945832-6945832
28 C12orf57 NM_138425.4(C12orf57):c.322C>T (p.Pro108Ser) SNV Uncertain significance 954217 GRCh37: 12:7055026-7055026
GRCh38: 12:6945863-6945863
29 C12orf57 NM_138425.4(C12orf57):c.215_216delinsTT (p.Ser72Ile) Indel Uncertain significance 962330 GRCh37: 12:7053801-7053802
GRCh38: 12:6944638-6944639
30 C12orf57 NM_138425.4(C12orf57):c.344A>G (p.His115Arg) SNV Uncertain significance 970374 GRCh37: 12:7055048-7055048
GRCh38: 12:6945885-6945885
31 C12orf57 NM_138425.4(C12orf57):c.35G>A (p.Ser12Asn) SNV Uncertain significance 972195 GRCh37: 12:7053319-7053319
GRCh38: 12:6944156-6944156
32 C12orf57 NM_138425.4(C12orf57):c.155_166del (p.Gln52_Leu55del) Deletion Uncertain significance 996947 GRCh37: 12:7053735-7053746
GRCh38: 12:6944572-6944583
33 C12orf57 NM_138425.4(C12orf57):c.272A>G (p.Gln91Arg) SNV Uncertain significance 662873 rs1591677332 GRCh37: 12:7054976-7054976
GRCh38: 12:6945813-6945813
34 C12orf57 NM_138425.4(C12orf57):c.311C>T (p.Ala104Val) SNV Uncertain significance 665587 rs782513111 GRCh37: 12:7055015-7055015
GRCh38: 12:6945852-6945852
35 C12orf57 NM_138425.4(C12orf57):c.136_138del (p.Asp46del) Deletion Uncertain significance 210546 rs781925545 GRCh37: 12:7053720-7053722
GRCh38: 12:6944557-6944559
36 C12orf57 NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr) SNV Uncertain significance 575714 rs201246220 GRCh37: 12:7053321-7053321
GRCh38: 12:6944158-6944158
37 overlap with 46 genes NC_000012.11:g.(?_6945914)_(9027627_?)dup Duplication Uncertain significance 659602 GRCh37: 12:6945914-9027627
GRCh38:
38 C12orf57 NM_138425.4(C12orf57):c.10G>A (p.Ala4Thr) SNV Uncertain significance 660590 rs367876099 GRCh37: 12:7053294-7053294
GRCh38: 12:6944131-6944131
39 overlap with 36 genes NC_000012.11:g.(?_6945914)_(8248706_?)dup Duplication Uncertain significance 830465 GRCh37: 12:6945914-8248706
GRCh38:
40 C12orf57 NM_138425.4(C12orf57):c.356C>T (p.Ala119Val) SNV Uncertain significance 836585 GRCh37: 12:7055060-7055060
GRCh38: 12:6945897-6945897
41 C12orf57 NM_138425.4(C12orf57):c.52G>A (p.Val18Met) SNV Uncertain significance 852238 GRCh37: 12:7053336-7053336
GRCh38: 12:6944173-6944173
42 C12orf57 NM_138425.4(C12orf57):c.44A>G (p.Gln15Arg) SNV Uncertain significance 862713 GRCh37: 12:7053328-7053328
GRCh38: 12:6944165-6944165
43 C12orf57 NM_138425.4(C12orf57):c.26C>T (p.Ala9Val) SNV Uncertain significance 934000 GRCh37: 12:7053310-7053310
GRCh38: 12:6944147-6944147
44 C12orf57 NM_138425.4(C12orf57):c.61G>A (p.Ala21Thr) SNV Uncertain significance 944318 GRCh37: 12:7053647-7053647
GRCh38: 12:6944484-6944484
45 C12orf57 NM_138425.4(C12orf57):c.29C>T (p.Ala10Val) SNV Uncertain significance 966252 GRCh37: 12:7053313-7053313
GRCh38: 12:6944150-6944150
46 C12orf57 NM_138425.4(C12orf57):c.127G>T (p.Ala43Ser) SNV Uncertain significance 581132 rs782311451 GRCh37: 12:7053713-7053713
GRCh38: 12:6944550-6944550
47 C12orf57 NM_138425.4(C12orf57):c.323C>T (p.Pro108Leu) SNV Uncertain significance 999370 GRCh37: 12:7055027-7055027
GRCh38: 12:6945864-6945864
48 C12orf57 NM_138425.4(C12orf57):c.20A>C (p.Gln7Pro) SNV Uncertain significance 1009158 GRCh37: 12:7053304-7053304
GRCh38: 12:6944141-6944141
49 C12orf57 NM_138425.4(C12orf57):c.248G>T (p.Arg83Leu) SNV Uncertain significance 1010719 GRCh37: 12:7054952-7054952
GRCh38: 12:6945789-6945789
50 C12orf57 NM_138425.4(C12orf57):c.193G>C (p.Val65Leu) SNV Uncertain significance 856317 GRCh37: 12:7053779-7053779
GRCh38: 12:6944616-6944616

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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