CLABARS
MCID: CLR029
MIFTS: 33

Clark-Baraitser Syndrome (CLABARS)

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

Aliases & Classifications for Clark-Baraitser Syndrome

MalaCards integrated aliases for Clark-Baraitser Syndrome:

Name: Clark-Baraitser Syndrome 56 52 29 6 71
Mental Retardation, Autosomal Dominant 49 56 73
Mental Retardation, Tall Stature, Obesity, Macrocephaly and Typical Facial Features 52
Mental Retardation, Autosomal Dominant 49, Formerly; Mrd49, Formerly 56
Mental Retardation, Autosomal Dominant 49, Formerly 56
Mental Retardation, Autosomal Dominant, Type 49 39
Autosomal Dominant Mental Retardation 49 12
Progeria Short Stature Pigmented Nevi 71
Baraitser Syndrome 56
Mrd49, Formerly 56
Clabars 56
Mrd49 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

31
clark-baraitser syndrome:
Inheritance x-linked inheritance autosomal dominant inheritance


Classifications:



Summaries for Clark-Baraitser Syndrome

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 49: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Clark-Baraitser Syndrome, also known as mental retardation, autosomal dominant 49, is related to nicolaides-baraitser syndrome and temple-baraitser syndrome, and has symptoms including seizures and unspecified visual loss. An important gene associated with Clark-Baraitser Syndrome is TRIP12 (Thyroid Hormone Receptor Interactor 12). Affiliated tissues include tongue, and related phenotypes are obesity and seizure

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in heterozygous mutation in the TRIP12 gene on chromosome 2q36.

More information from OMIM: 617752

Related Diseases for Clark-Baraitser Syndrome

Diseases related to Clark-Baraitser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 nicolaides-baraitser syndrome 12.9
2 temple-baraitser syndrome 12.7
3 barnicoat baraitser syndrome 12.2
4 schaap taylor baraitser syndrome 12.2
5 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction 11.4
6 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.3
7 cataract-deafness-hypogonadism syndrome 11.3
8 autosomal dominant deafness-onychodystrophy syndrome 11.2
9 ataxia-deafness-retardation syndrome 11.2
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 phelan-mcdermid syndrome 10.3
12 coffin-siris syndrome 1 10.3
13 microcephaly 10.3
14 brachydactyly 10.2
15 epilepsy 10.2
16 hypotrichosis 10.1
17 seizure disorder 10.1
18 teeth, supernumerary 9.9
19 autism 9.9
20 borjeson-forssman-lehmann syndrome 9.9
21 intraocular pressure quantitative trait locus 9.9
22 chromosome 6q24-q25 deletion syndrome 9.9
23 microcephaly, seizures, and developmental delay 9.9
24 coffin-siris syndrome 2 9.9
25 coffin-siris syndrome 3 9.9
26 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
27 coffin-siris syndrome 5 9.9
28 autism spectrum disorder 9.9
29 adams-oliver syndrome 9.9
30 visual epilepsy 9.9
31 atypical teratoid rhabdoid tumor 9.9
32 cataract 9.9
33 refractive error 9.9
34 chromosome 6q25 microdeletion syndrome 9.9
35 epilepsy with myoclonic-atonic seizures 9.9
36 zimmermann-laband syndrome 9.9
37 rare intellectual disability 9.9
38 vitreoretinopathy 9.9

Graphical network of the top 20 diseases related to Clark-Baraitser Syndrome:



Diseases related to Clark-Baraitser Syndrome

Symptoms & Phenotypes for Clark-Baraitser Syndrome

Human phenotypes related to Clark-Baraitser Syndrome:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 obesity 31 very rare (1%) HP:0001513
2 seizure 31 very rare (1%) HP:0001250
3 coarse facial features 31 HP:0000280
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 hypertelorism 31 HP:0000316
8 scoliosis 31 HP:0002650
9 kyphosis 31 HP:0002808
10 macrocephaly 31 HP:0000256
11 macroorchidism 31 HP:0000053
12 delayed speech and language development 31 HP:0000750
13 abnormal facial shape 31 HP:0001999
14 short nose 31 HP:0003196
15 prominent forehead 31 HP:0011220
16 thick lower lip vermilion 31 HP:0000179
17 genu valgum 31 HP:0002857
18 frontal bossing 31 HP:0002007
19 strabismus 31 HP:0000486
20 genu recurvatum 31 HP:0002816
21 high palate 31 HP:0000218
22 epicanthus 31 HP:0000286
23 joint laxity 31 HP:0001388
24 wide mouth 31 HP:0000154
25 downslanted palpebral fissures 31 HP:0000494
26 upslanted palpebral fissure 31 HP:0000582
27 sandal gap 31 HP:0001852
28 downturned corners of mouth 31 HP:0002714
29 long philtrum 31 HP:0000343
30 tall stature 31 HP:0000098
31 tapered finger 31 HP:0001182
32 broad palm 31 HP:0001169
33 short palm 31 HP:0004279
34 aggressive behavior 31 HP:0000718
35 hyperactivity 31 HP:0000752
36 broad nasal tip 31 HP:0000455
37 generalized hypotonia 31 HP:0001290
38 maxillary lateral incisor microdontia 31 HP:0001593
39 clinodactyly 31 HP:0030084
40 narrow palpebral fissure 31 HP:0045025
41 exaggerated median tongue furrow 31 HP:0002711
42 widely-spaced maxillary central incisors 31 HP:0001566
43 prominent median palatal raphe 31 HP:0002708
44 heavy supraorbital ridges 31 HP:0002054

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
learning disabilities
seizures (rare)
delayed speech

Head And Neck Eyes:
hypertelorism
prominent supraorbital ridges
strabismus
epicanthal folds
upslanting palpebral fissures
more
Genitourinary External Genitalia Male:
macroorchidism

Skeletal Feet:
sandal gap

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
autistic features
impulsive behavior

Muscle Soft Tissue:
hypotonia

Growth Weight:
obesity (in some patients)

Head And Neck Nose:
depressed nasal bridge
short nose
broad nasal tip
low columella

Head And Neck Head:
macrocephaly

Head And Neck Mouth:
wide mouth
high-arched palate
downturned corners of the mouth
thick lower lip

Head And Neck Face:
long philtrum
large forehead
dysmorphic facial features, mild, highly variable

Skeletal Hands:
clinodactyly

Head And Neck Ears:
large ears
large ear lobes

Head And Neck Teeth:
small upper lateral incisors

Clinical features from OMIM:

617752

UMLS symptoms related to Clark-Baraitser Syndrome:


seizures, unspecified visual loss

Drugs & Therapeutics for Clark-Baraitser Syndrome

Search Clinical Trials , NIH Clinical Center for Clark-Baraitser Syndrome

Genetic Tests for Clark-Baraitser Syndrome

Genetic tests related to Clark-Baraitser Syndrome:

# Genetic test Affiliating Genes
1 Clark-Baraitser Syndrome 29 TRIP12

Anatomical Context for Clark-Baraitser Syndrome

MalaCards organs/tissues related to Clark-Baraitser Syndrome:

40
Tongue

Publications for Clark-Baraitser Syndrome

Articles related to Clark-Baraitser Syndrome:

(show all 11)
# Title Authors PMID Year
1
Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. 61 56 6
31814248 2020
2
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 56 6
27848077 2017
3
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 6 56
27479843 2016
4
The contribution of de novo coding mutations to autism spectrum disorder. 6 56
25363768 2014
5
A new X-linked mental retardation syndrome. 6 56
3812552 1987
6
Clark-Baraitser syndrome: report of a new case and review of the literature. 61 56
15930902 2005
7
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. 6
28660352 2017
8
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. 56
28251352 2017
9
The X-linked mental retardation, macrosomia, macrocephaly and obesity syndrome (Baraitser syndrome): a Brazilian case. 56
9690003 1998
10
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. 56
7677138 1995
11
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome. 61
15930901 2005

Variations for Clark-Baraitser Syndrome

ClinVar genetic disease variations for Clark-Baraitser Syndrome:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIP12 NM_001284214.2(TRIP12):c.582_583AG[2] (p.Ser196fs)short repeat Pathogenic 446136 rs1553704327 2:230723928-230723929 2:229859212-229859213
2 TRIP12 NM_001284214.2(TRIP12):c.3401+1G>ASNV Pathogenic 446137 rs1553616463 2:230663590-230663590 2:229798874-229798874
3 TRIP12 NM_001284214.2(TRIP12):c.4928G>A (p.Arg1643Gln)SNV Pathogenic 446138 rs1553602821 2:230650558-230650558 2:229785842-229785842
4 TRIP12 NM_001284214.2(TRIP12):c.3590_3591del (p.Val1196_Ser1197insTer)deletion Pathogenic 446139 rs1553614300 2:230661451-230661452 2:229796735-229796736
5 TRIP12 NM_001284214.2(TRIP12):c.3123dup (p.Gly1042fs)duplication Pathogenic 446140 rs1553620494 2:230666969-230666970 2:229802253-229802254
6 TRIP12 NM_001284214.2(TRIP12):c.3887+1G>ASNV Pathogenic 446141 rs1553612358 2:230659894-230659894 2:229795178-229795178
7 TRIP12 NM_001284214.2(TRIP12):c.4237C>T (p.Gln1413Ter)SNV Pathogenic 619982 rs1559428905 2:230656679-230656679 2:229791963-229791963
8 TRIP12 NM_001284214.2(TRIP12):c.3085C>T (p.Gln1029Ter)SNV Pathogenic 801907 2:230667008-230667008 2:229802292-229802292
9 TRIP12 NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter)SNV Pathogenic 812668 2:230679862-230679862 2:229815146-229815146
10 TRIP12 NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter)SNV Likely pathogenic 817548 2:230664098-230664098 2:229799382-229799382
11 TRIP12 NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)deletion Likely pathogenic 873430 2:230661315-230661315 2:229796599-229796599
12 TRIO NM_007118.4(TRIO):c.298del (p.Arg100fs)deletion Likely pathogenic 873429 5:14280496-14280496 5:14280387-14280387
13 TRIP12 NM_001284214.2(TRIP12):c.4905T>A (p.Asp1635Glu)SNV Likely pathogenic 801906 2:230652230-230652230 2:229787514-229787514
14 TRIP12 NM_001284214.2(TRIP12):c.5720C>T (p.Pro1907Leu)SNV Likely pathogenic 620003 rs747501109 2:230636242-230636242 2:229771526-229771526
15 TRIP12 NM_001284214.2(TRIP12):c.983A>C (p.Glu328Ala)SNV Uncertain significance 801908 2:230723532-230723532 2:229858816-229858816
16 TRIP12 NM_001284214.2(TRIP12):c.5953A>G (p.Thr1985Ala)SNV Uncertain significance 801905 2:230632440-230632440 2:229767724-229767724

UniProtKB/Swiss-Prot genetic disease variations for Clark-Baraitser Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TRIP12 p.Ala761Val VAR_080434 rs373429636
2 TRIP12 p.Asp1557His VAR_080436
3 TRIP12 p.Arg1595Gln VAR_080437 rs155360282
4 TRIP12 p.Ser1840Leu VAR_080438 rs866079762

Expression for Clark-Baraitser Syndrome

Search GEO for disease gene expression data for Clark-Baraitser Syndrome.

Pathways for Clark-Baraitser Syndrome

GO Terms for Clark-Baraitser Syndrome

Molecular functions related to Clark-Baraitser Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.62 TRIP12 TRIO

Sources for Clark-Baraitser Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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