TOLCAS
MCID: TLC002
MIFTS: 20

Tolchin-Le Caignec Syndrome (TOLCAS)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Tolchin-Le Caignec Syndrome

MalaCards integrated aliases for Tolchin-Le Caignec Syndrome:

Name: Tolchin-Le Caignec Syndrome 57 73 6
Intellectual Developmental Disorder with Behavioral Abnormalities and Variable Bone Defects 57 73
Tolcas 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation (in most patients)
early onset


HPO:

31
tolchin-le caignec syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tolchin-Le Caignec Syndrome

OMIM® : 57 Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by Tolchin et al., 2020). (618971) (Updated 05-Mar-2021)

MalaCards based summary : Tolchin-Le Caignec Syndrome, is also known as intellectual developmental disorder with behavioral abnormalities and variable bone defects. An important gene associated with Tolchin-Le Caignec Syndrome is SOX6 (SRY-Box Transcription Factor 6). Affiliated tissues include bone, and related phenotypes are high palate and precocious puberty

UniProtKB/Swiss-Prot : 73 Tolchin-Le Caignec syndrome: An autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference.

Related Diseases for Tolchin-Le Caignec Syndrome

Symptoms & Phenotypes for Tolchin-Le Caignec Syndrome

Human phenotypes related to Tolchin-Le Caignec Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 precocious puberty 31 very rare (1%) HP:0000826
3 global developmental delay 31 very rare (1%) HP:0001263
4 hypertelorism 31 very rare (1%) HP:0000316
5 macrotia 31 very rare (1%) HP:0000400
6 wide nasal bridge 31 very rare (1%) HP:0000431
7 umbilical hernia 31 very rare (1%) HP:0001537
8 sensorineural hearing impairment 31 very rare (1%) HP:0000407
9 thick eyebrow 31 very rare (1%) HP:0000574
10 prominent occiput 31 very rare (1%) HP:0000269
11 micrognathia 31 very rare (1%) HP:0000347
12 low-set ears 31 very rare (1%) HP:0000369
13 inverted nipples 31 very rare (1%) HP:0003186
14 arachnodactyly 31 very rare (1%) HP:0001166
15 narrow mouth 31 very rare (1%) HP:0000160
16 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
17 long face 31 very rare (1%) HP:0000276
18 high forehead 31 very rare (1%) HP:0000348
19 dysgraphia 31 very rare (1%) HP:0010526
20 nasolacrimal duct obstruction 31 very rare (1%) HP:0000579
21 triangular face 31 very rare (1%) HP:0000325
22 diastasis recti 31 very rare (1%) HP:0001540
23 submucous cleft hard palate 31 very rare (1%) HP:0000176
24 prominent nose 31 very rare (1%) HP:0000448
25 hirsutism 31 very rare (1%) HP:0001007
26 vestibular dysfunction 31 very rare (1%) HP:0001751
27 short palpebral fissure 31 very rare (1%) HP:0012745
28 narrow forehead 31 very rare (1%) HP:0000341
29 oxycephaly 31 very rare (1%) HP:0000263
30 osteochondroma 31 very rare (1%) HP:0030431
31 hooded eyelid 31 very rare (1%) HP:0030820
32 scaphocephaly 31 very rare (1%) HP:0030799
33 cardiac rhabdomyoma 31 very rare (1%) HP:0009729
34 food allergy 31 very rare (1%) HP:0500093

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
anxiety
restlessness
aggressive behavior
sleep disturbances
more
Head And Neck Nose:
wide nasal bridge

Head And Neck Ears:
low-set ears
large ears

Head And Neck Face:
high forehead
bitemporal narrowing
dysmorphic facial features, variable, nonspecific
micrognathia,

Neurologic Central Nervous System:
developmental delay
tremor (in some patients)
impaired intellectual development, mild to moderate
dysgraphia (in some patients)

Head And Neck Mouth:
palatal defects

Head And Neck Eyes:
hypertelorism
full eyebrows

Head And Neck Head:
prominent occiput
large head circumference (2 patients)

Skeletal Hands:
arachnodactyly
clinodactyly

Skeletal Skull:
craniosynostosis
oxycephaly
scaphocephaly

Skeletal Feet:
foot deformities

Skeletal:
variable bony defects (in some patients)
osteochondromas (in some patients)

Clinical features from OMIM®:

618971 (Updated 05-Mar-2021)

Drugs & Therapeutics for Tolchin-Le Caignec Syndrome

Search Clinical Trials , NIH Clinical Center for Tolchin-Le Caignec Syndrome

Genetic Tests for Tolchin-Le Caignec Syndrome

Anatomical Context for Tolchin-Le Caignec Syndrome

MalaCards organs/tissues related to Tolchin-Le Caignec Syndrome:

40
Bone

Publications for Tolchin-Le Caignec Syndrome

Articles related to Tolchin-Le Caignec Syndrome:

# Title Authors PMID Year
1
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. 6 57
32442410 2020

Variations for Tolchin-Le Caignec Syndrome

ClinVar genetic disease variations for Tolchin-Le Caignec Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX6 SOX6, EX1-2DEL Deletion Pathogenic 974903
2 SOX6 NM_001367873.1(SOX6):c.242C>G (p.Ser81Ter) SNV Pathogenic 974904 11:16340195-16340195 11:16318649-16318649
3 SOX6 NM_001367873.1(SOX6):c.718C>T (p.Gln240Ter) SNV Pathogenic 503665 rs1554941241 11:16205491-16205491 11:16183945-16183945
4 SOX6 NM_001367873.1(SOX6):c.1874T>C (p.Met625Thr) SNV Pathogenic 974906 11:16010635-16010635 11:15989089-15989089
5 SOX6 NM_001367873.1(SOX6):c.1975T>A (p.Trp659Arg) SNV Pathogenic 974907 11:16007958-16007958 11:15986412-15986412

Expression for Tolchin-Le Caignec Syndrome

Search GEO for disease gene expression data for Tolchin-Le Caignec Syndrome.

Pathways for Tolchin-Le Caignec Syndrome

GO Terms for Tolchin-Le Caignec Syndrome

Sources for Tolchin-Le Caignec 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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