CLABARS
MCID: CLR029
MIFTS: 54

Clark-Baraitser Syndrome (CLABARS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Clark-Baraitser Syndrome

MalaCards integrated aliases for Clark-Baraitser Syndrome:

Name: Clark-Baraitser Syndrome 57 11 19 58 73 28 5 43 14 38 71
Clabars 57 11 73
Autosomal Dominant Intellectual Disability 49 11 19
Baraitser Syndrome 57 11
Intellectual Disability, Tall Stature, Obesity, Macrocephaly and Typical Facial Features 19
Intellectual Developmental Disorder, Autosomal Dominant 49 57
Mental Retardation, Autosomal Dominant 49, Formerly 57
Autosomal Dominant Mental Retardation 49 11
Progeria Short Stature Pigmented Nevi 71
Mrd49, Formerly 57
Mrd49 73

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype
de novo mutation


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Clark-Baraitser Syndrome

UniProtKB/Swiss-Prot: 73 An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly.

MalaCards based summary: Clark-Baraitser Syndrome, also known as clabars, is related to nicolaides-baraitser syndrome and familial isolated trichomegaly, and has symptoms including seizures and unspecified visual loss. An important gene associated with Clark-Baraitser Syndrome is TRIP12 (Thyroid Hormone Receptor Interactor 12), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include tongue and skin, and related phenotypes are intellectual disability and seizure

Disease Ontology: 11 An autosomal dominant intellectual developmental disorder 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 top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 nicolaides-baraitser syndrome 33.4 SMARCA2 ARID1B
2 familial isolated trichomegaly 30.2 SMARCE1 SMARCA2 ARID1B
3 blepharophimosis 30.0 SMARCA2 ARID1B ADNP
4 ohdo syndrome 29.9 SMARCA2 H2AC18 ADNP
5 hypertrichosis 28.1 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCB1 SMARCA4
6 coffin-siris syndrome 1 26.9 SOX11 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1
7 temple-baraitser syndrome 11.7
8 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction 11.3
9 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.2
10 barnicoat baraitser syndrome 11.2
11 schaap taylor baraitser syndrome 11.2
12 cataract-deafness-hypogonadism syndrome 11.2
13 ataxia-deafness-retardation syndrome 11.0
14 microcephaly 10.3
15 childhood meningioma 10.3 SMARCE1 SMARCB1
16 cerebral falx meningioma 10.3 SMARCE1 SMARCB1
17 parasagittal meningioma 10.3 SMARCE1 SMARCB1
18 cerebral convexity meningioma 10.3 SMARCE1 SMARCB1
19 basan syndrome 10.3 SMARCA4 SMARCA2
20 schizophrenia 7 10.3 SMARCA2 H2AC18
21 olfactory groove meningioma 10.3 SMARCE1 SMARCB1
22 posterior pituitary gland neoplasm 10.3 SMARCB1 SMARCA4
23 anterior cranial fossa meningioma 10.3 SMARCE1 SMARCB1
24 brain meningioma 10.3 SMARCE1 SMARCB1
25 atypical neurofibroma 10.3 SMARCB1 SMARCA2
26 transitional meningioma 10.3 SMARCE1 SMARCB1
27 secretory meningioma 10.3 SMARCE1 SMARCB1
28 coffin-siris syndrome 6 10.3 SMARCE1 ARID2
29 rhabdoid meningioma 10.3 SMARCE1 SMARCB1
30 bartholin's gland adenoid cystic carcinoma 10.3 SMARCA2 ARID1A
31 epithelioid malignant peripheral nerve sheath tumor 10.3 SMARCB1 SMARCA4
32 skull base meningioma 10.3 SMARCE1 SMARCB1
33 borjeson-forssman-lehmann syndrome 10.3 SMARCE1 SMARCA2 BANF1
34 interatrial communication 10.3 SMARCA4 ACTL6A
35 torticollis 10.3 ARID1B ACTL6A
36 meningothelial meningioma 10.3 SMARCE1 SMARCB1
37 skull base cancer 10.3 SMARCE1 SMARCB1
38 clear cell adenofibroma 10.3 SMARCA4 ARID1A
39 chromosome 6q24-q25 deletion syndrome 10.3 DPF2 ARID1B
40 coffin-siris syndrome 4 10.3 SMARCA4 ARID2
41 fibrous meningioma 10.2 SMARCE1 SMARCB1
42 anal squamous cell carcinoma 10.2 TRIP12 H2AC18
43 developmental and epileptic encephalopathy 76 10.2 ACTL6B ACTL6A
44 sinonasal undifferentiated carcinoma 10.2 SMARCB1 SMARCA4 SMARCA2
45 juvenile type testicular granulosa cell tumor 10.2 SMARCB1 SMARCA4 SMARCA2
46 testicular granulosa cell tumor 10.2 SMARCB1 SMARCA4 SMARCA2
47 paranasal sinus cancer 10.2 SMARCB1 SMARCA4 SMARCA2
48 solitary fibrous tumor/hemangiopericytoma 10.2 SMARCE1 SMARCB1
49 nasal cavity cancer 10.2 SMARCB1 SMARCA4 SMARCA2
50 clear cell meningioma 10.2 SMARCE1 SMARCB1 SMARCA4

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:

30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 seizure 30 Very rare (1%) HP:0001250
3 hypotonia 30 Very rare (1%) HP:0001252
4 global developmental delay 30 Very rare (1%) HP:0001263
5 depressed nasal bridge 30 Very rare (1%) HP:0005280
6 hypertelorism 30 Very rare (1%) HP:0000316
7 delayed speech and language development 30 Very rare (1%) HP:0000750
8 short nose 30 Very rare (1%) HP:0003196
9 microcephaly 30 Very rare (1%) HP:0000252
10 smooth philtrum 30 Very rare (1%) HP:0000319
11 anteverted nares 30 Very rare (1%) HP:0000463
12 brachycephaly 30 Very rare (1%) HP:0000248
13 low-set ears 30 Very rare (1%) HP:0000369
14 anxiety 30 Very rare (1%) HP:0000739
15 obesity 30 Very rare (1%) HP:0001513
16 epicanthus 30 Very rare (1%) HP:0000286
17 motor delay 30 Very rare (1%) HP:0001270
18 dolichocephaly 30 Very rare (1%) HP:0000268
19 downturned corners of mouth 30 Very rare (1%) HP:0002714
20 thin upper lip vermilion 30 Very rare (1%) HP:0000219
21 long philtrum 30 Very rare (1%) HP:0000343
22 short philtrum 30 Very rare (1%) HP:0000322
23 wide mouth 30 Very rare (1%) HP:0000154
24 pointed chin 30 Very rare (1%) HP:0000307
25 large earlobe 30 Very rare (1%) HP:0009748
26 sloping forehead 30 Very rare (1%) HP:0000340
27 autistic behavior 30 Very rare (1%) HP:0000729
28 aggressive behavior 30 Very rare (1%) HP:0000718
29 hyperactivity 30 Very rare (1%) HP:0000752
30 exaggerated cupid's bow 30 Very rare (1%) HP:0002263
31 narrow palpebral fissure 30 Very rare (1%) HP:0045025
32 low hanging columella 30 Very rare (1%) HP:0009765
33 macrocephaly 30 HP:0000256
34 frontal bossing 30 HP:0002007
35 scoliosis 30 HP:0002650
36 kyphosis 30 HP:0002808
37 high palate 30 HP:0000218
38 coarse facial features 30 HP:0000280
39 macroorchidism 30 HP:0000053
40 prominent forehead 30 HP:0011220
41 thick lower lip vermilion 30 HP:0000179
42 genu valgum 30 HP:0002857
43 strabismus 30 HP:0000486
44 genu recurvatum 30 HP:0002816
45 joint laxity 30 HP:0001388
46 downslanted palpebral fissures 30 HP:0000494
47 upslanted palpebral fissure 30 HP:0000582
48 sandal gap 30 HP:0001852
49 tall stature 30 HP:0000098
50 tapered finger 30 HP:0001182

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypertelorism
prominent supraorbital ridges
strabismus
epicanthal folds
upslanting palpebral fissures
more
Skeletal Feet:
sandal gap

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

Skeletal Hands:
clinodactyly

Growth Weight:
obesity (in some patients)

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

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

Genitourinary External Genitalia Male:
macroorchidism

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

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

Head And Neck Ears:
large ears
large ear lobes

Head And Neck Teeth:
small upper lateral incisors

Clinical features from OMIM®:

617752 (Updated 08-Dec-2022)

UMLS symptoms related to Clark-Baraitser Syndrome:


seizures; unspecified visual loss

GenomeRNAi Phenotypes related to Clark-Baraitser Syndrome according to GeneCards Suite gene sharing:

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.2 SMARCA4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.2 SMARCC1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.2 SMARCC1 SMARCE1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.2 SMARCC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.2 DPF2 SMARCC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.2 DPF2 SMARCA4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.2 SMARCB1 SMARCE1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.2 SMARCE1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.2 DPF2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.2 DPF2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.2 SMARCB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.2 DPF2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.2 SMARCE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-28 10.2 SMARCA4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.2 SMARCE1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-75 10.2 SMARCB1 SMARCC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.2 SMARCE1
18 Increased Nanog expression GR00371-A-1 9.87 ACTL6A ARID1A DPF2 SMARCE1 BANF1 DPF1
19 Increased Nanog expression GR00371-A-2 9.87 ARID2 DPF2 SMARCE1 SOX11
20 Increased Nanog expression GR00371-A-3 9.87 ACTL6A ARID1A ARID2 DPF2
21 Increased Nanog expression GR00371-A-4 9.87 SOX11
22 Increased Nanog expression GR00371-A-5 9.87 ARID1A BANF1
23 shRNA abundance <= 50% GR00343-S 9.81 ADNP KCNH1 SMARCA2 SMARCA4 SMARCB1 SMARCC1

MGI Mouse Phenotypes related to Clark-Baraitser Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.61 ADNP ARID1A DPF2 SMARCA4 SMARCB1 SMARCC1
2 mortality/aging MP:0010768 9.5 ACTL6A ACTL6B ADNP ARID1A ARID1B ARID2

Drugs & Therapeutics for Clark-Baraitser Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Clark-Baraitser Syndrome

Cochrane evidence based reviews: clark-baraitser syndrome

Genetic Tests for Clark-Baraitser Syndrome

Genetic tests related to Clark-Baraitser Syndrome:

# Genetic test Affiliating Genes
1 Clark-Baraitser Syndrome 28 TRIP12

Anatomical Context for Clark-Baraitser Syndrome

Organs/tissues related to Clark-Baraitser Syndrome:

MalaCards : Tongue, Skin

Publications for Clark-Baraitser Syndrome

Articles related to Clark-Baraitser Syndrome:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. 62 57 5
31814248 2020
2
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. 57 5
28251352 2017
3
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 57 5
27848077 2017
4
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 57 5
27479843 2016
5
The contribution of de novo coding mutations to autism spectrum disorder. 57 5
25363768 2014
6
A new X-linked mental retardation syndrome. 57 5
3812552 1987
7
Clark-Baraitser syndrome: report of a new case and review of the literature. 62 57
15930902 2005
8
The X-linked mental retardation, macrosomia, macrocephaly and obesity syndrome (Baraitser syndrome): a Brazilian case. 62 57
9690003 1998
9
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. 5
28660352 2017
10
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. 57
7677138 1995
11
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability. 62
36275919 2022
12
[Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism]. 62
36453960 2022
13
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome. 62
36430143 2022
14
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome. 62
35762114 2022
15
Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report. 62
36117579 2022
16
Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS. 62
35811451 2022
17
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. 62
35639255 2022
18
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion. 62
34521483 2022
19
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. 62
33811134 2022
20
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides-Baraitser syndrome. 62
35092358 2022
21
Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides-Baraitser syndrome. 62
36160002 2022
22
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. 62
34706719 2021
23
Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission. 62
34296532 2021
24
Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery. 62
34039274 2021
25
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects. 62
33578439 2021
26
Difficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening. 62
33827121 2021
27
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report. 62
32956079 2021
28
E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions. 62
33198194 2020
29
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. 62
32694869 2020
30
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant. 62
32657847 2020
31
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect? 62
31541998 2020
32
[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome]. 62
32034741 2020
33
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 62
32560786 2020
34
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome]. 62
31813144 2019
35
Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4. 62
31375262 2019
36
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. 62
31288860 2019
37
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome. 62
31243159 2019
38
Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome. 62
30707941 2019
39
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability. 62
30838730 2019
40
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 62
30879640 2019
41
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. 62
29706634 2018
42
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. 62
29623569 2018
43
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. 62
30123105 2018
44
Supernumeraries in Nicolaides-Baraitser Syndrome. 62
28635076 2017
45
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 62
28884947 2017
46
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders. 62
28824374 2017
47
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. 62
27665729 2017
48
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. 62
28948053 2017
49
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. 62
27570168 2016
50
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. 62
27264538 2016

Variations for Clark-Baraitser Syndrome

ClinVar genetic disease variations for Clark-Baraitser Syndrome:

5 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP12 NM_001348323.3(TRIP12):c.3968+1G>A SNV Pathogenic
446141 rs1553612358 GRCh37: 2:230659894-230659894
GRCh38: 2:229795178-229795178
2 TRIP12 NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) SNV Pathogenic
446138 rs1553602821 GRCh37: 2:230650558-230650558
GRCh38: 2:229785842-229785842
3 TRIP12 NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) MICROSAT Pathogenic
446136 rs1553704327 GRCh37: 2:230723928-230723929
GRCh38: 2:229859212-229859213
4 TRIP12 NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) DEL Pathogenic
446139 rs1553614300 GRCh37: 2:230661451-230661452
GRCh38: 2:229796735-229796736
5 TRIP12 NM_001348323.3(TRIP12):c.3482+1G>A SNV Pathogenic
446137 rs1553616463 GRCh37: 2:230663590-230663590
GRCh38: 2:229798874-229798874
6 TRIP12 NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs) DUP Pathogenic
446140 rs1553620494 GRCh37: 2:230666969-230666970
GRCh38: 2:229802253-229802254
7 TRIP12 NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter) SNV Pathogenic
619982 GRCh37: 2:230656679-230656679
GRCh38: 2:229791963-229791963
8 TRIP12 NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter) SNV Pathogenic
812668 rs1575419803 GRCh37: 2:230679862-230679862
GRCh38: 2:229815146-229815146
9 TRIP12 NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter) SNV Pathogenic
817548 rs1575161164 GRCh37: 2:230664098-230664098
GRCh38: 2:229799382-229799382
10 TRIP12 NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) DUP Pathogenic
931032 rs2041642562 GRCh37: 2:230656628-230656629
GRCh38: 2:229791912-229791913
11 TRIP12 NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter) SNV Pathogenic
801907 rs1575203936 GRCh37: 2:230667008-230667008
GRCh38: 2:229802292-229802292
12 TRIP12 NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) SNV Pathogenic
489242 rs1553636520 GRCh37: 2:230679895-230679895
GRCh38: 2:229815179-229815179
13 TRIP12 NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs) DUP Pathogenic
1028708 rs2036605188 GRCh37: 2:230642100-230642101
GRCh38: 2:229777384-229777385
14 TRIP12 NM_001348323.3(TRIP12):c.399dup (p.Pro134fs) DUP Pathogenic
997950 rs2060119917 GRCh37: 2:230724115-230724116
GRCh38: 2:229859399-229859400
15 TRIP12 NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) DEL Pathogenic
1285508 GRCh37: 2:230653626-230653626
GRCh38: 2:229788910-229788910
16 TRIP12 NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) SNV Pathogenic
1326281 GRCh37: 2:230668818-230668818
GRCh38: 2:229804102-229804102
17 TRIP12 NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs) INSERT Pathogenic
1164053 GRCh37: 2:230672541-230672542
GRCh38: 2:229807825-229807826
18 TRIP12 NM_001348323.3(TRIP12):c.3816+2T>A SNV Pathogenic
1703055 GRCh37: 2:230661305-230661305
GRCh38: 2:229796589-229796589
19 TRIP12 NM_001348323.3(TRIP12):c.4216-2A>G SNV Pathogenic
1709568 GRCh37: 2:230656783-230656783
GRCh38: 2:229792067-229792067
20 TRIP12 NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) SNV Pathogenic/Likely Pathogenic
620003 GRCh37: 2:230636242-230636242
GRCh38: 2:229771526-229771526
21 TRIP12 NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter) DUP Likely Pathogenic
1709873 GRCh37: 2:230632364-230632365
GRCh38: 2:229767648-229767649
22 TRIP12 NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs) INDEL Likely Pathogenic
1334586 GRCh37: 2:230643237-230643254
GRCh38: 2:229778521-229778538
23 TRIP12 NM_001348323.3(TRIP12):c.4838+2T>G SNV Likely Pathogenic
998078 rs2040714903 GRCh37: 2:230653512-230653512
GRCh38: 2:229788796-229788796
24 TRIP12 NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) SNV Likely Pathogenic
801906 rs1468657712 GRCh37: 2:230652230-230652230
GRCh38: 2:229787514-229787514
25 TRIP12 NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) SNV Likely Pathogenic
1098288 GRCh37: 2:230652312-230652312
GRCh38: 2:229787596-229787596
26 TRIP12 NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) SNV Likely Pathogenic
984640 rs2032214426 GRCh37: 2:230632352-230632352
GRCh38: 2:229767636-229767636
27 TRIP12 NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) DEL Likely Pathogenic
873430 rs2042881907 GRCh37: 2:230661315-230661315
GRCh38: 2:229796599-229796599
28 TRIP12 NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp) SNV Uncertain Significance
930270 rs772399122 GRCh37: 2:230675869-230675869
GRCh38: 2:229811153-229811153
29 TRIP12 NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr) SNV Uncertain Significance
930284 rs771031325 GRCh37: 2:230693978-230693978
GRCh38: 2:229829262-229829262
30 TRIP12 NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg) SNV Uncertain Significance
931101 rs2056267716 GRCh37: 2:230705634-230705634
GRCh38: 2:229840918-229840918
31 TRIP12 NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp) SNV Uncertain Significance
975859 rs1268798250 GRCh37: 2:230661349-230661349
GRCh38: 2:229796633-229796633
32 TRIP12 NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter) SNV Uncertain Significance
975899 rs1387893497 GRCh37: 2:230632290-230632290
GRCh38: 2:229767574-229767574
33 TRIP12 NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala) SNV Uncertain Significance
801905 rs1574632490 GRCh37: 2:230632440-230632440
GRCh38: 2:229767724-229767724
34 TRIP12 NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe) SNV Uncertain Significance
996963 rs1305168076 GRCh37: 2:230675746-230675746
GRCh38: 2:229811030-229811030
35 TRIP12 NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala) SNV Uncertain Significance
801908 rs986636922 GRCh37: 2:230723532-230723532
GRCh38: 2:229858816-229858816
36 TRIP12 NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val) SNV Uncertain Significance
1028709 rs780999801 GRCh37: 2:230723812-230723812
GRCh38: 2:229859096-229859096
37 TRIP12 NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu) SNV Uncertain Significance
1028710 rs779389307 GRCh37: 2:230723526-230723526
GRCh38: 2:229858810-229858810
38 TRIP12 NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val) SNV Uncertain Significance
1031393 rs764732335 GRCh37: 2:230660028-230660028
GRCh38: 2:229795312-229795312
39 TRIP12 NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) SNV Uncertain Significance
1031394 rs1157793506 GRCh37: 2:230656744-230656744
GRCh38: 2:229792028-229792028
40 TRIP12 NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) SNV Uncertain Significance
1031395 rs2036612429 GRCh37: 2:230642131-230642131
GRCh38: 2:229777415-229777415
41 TRIP12 NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn) SNV Uncertain Significance
1064567 GRCh37: 2:230652288-230652288
GRCh38: 2:229787572-229787572
42 TRIP12 NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val) SNV Uncertain Significance
1028707 rs1428800056 GRCh37: 2:230643205-230643205
GRCh38: 2:229778489-229778489
43 TRIP12 NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys) SNV Uncertain Significance
1299591 GRCh37: 2:230701674-230701674
GRCh38: 2:229836958-229836958
44 TRIP12 NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu) SNV Uncertain Significance
1325557 GRCh37: 2:230725209-230725209
GRCh38: 2:229860493-229860493
45 TRIP12 NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly) SNV Uncertain Significance
1325601 GRCh37: 2:230633401-230633401
GRCh38: 2:229768685-229768685
46 TRIP12 NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) SNV Uncertain Significance
1341777 GRCh37: 2:230723767-230723767
GRCh38: 2:229859051-229859051
47 TRIP12 NM_001348323.3(TRIP12):c.3434G>T (p.Gly1145Val) SNV Uncertain Significance
1333864 GRCh37: 2:230663639-230663639
GRCh38: 2:229798923-229798923
48 TRIP12 NM_001348323.3(TRIP12):c.3725T>C (p.Leu1242Pro) SNV Uncertain Significance
1333865 GRCh37: 2:230661398-230661398
GRCh38: 2:229796682-229796682
49 TRIP12 NM_001348323.3(TRIP12):c.3206+408T>G SNV Uncertain Significance
1342518 GRCh37: 2:230666560-230666560
GRCh38: 2:229801844-229801844
50 TRIP12 NM_001348323.3(TRIP12):c.78A>C (p.Gln26His) SNV Uncertain Significance
1342601 GRCh37: 2:230744718-230744718
GRCh38: 2:229880002-229880002

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 rs1553602821
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

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 ACTL6A ACTL6B ARID1A ARID1B ARID2 H2AC18
2
Show member pathways
13.7 ACTL6A ACTL6B ARID1A ARID1B ARID2 H2AC18
3
Show member pathways
13.48 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
4
Show member pathways
13.12 ACTL6A ACTL6B ARID1A ARID1B ARID2 H2AC18
5
Show member pathways
12.97 ACTL6A ACTL6B ARID1A ARID1B ARID2 H2AC18
6 12.41 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2 ARID2
7
Show member pathways
12.23 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
8
Show member pathways
11.99 ACTL6A ACTL6B ARID1A ARID1B DPF1 SMARCA2
9
Show member pathways
11.83 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 SMARCA2
10 11.7 SMARCD1 SMARCC2 SMARCC1 SMARCA4
11 11.61 ACTL6A ACTL6B ARID1A ARID1B ARID2 SMARCA2
12 11.53 SMARCE1 SMARCA2 ARID1A
13 11.41 SMARCE1 SMARCC1 SMARCA2
14 11.39 SMARCA4 SMARCA2 ACTL6B
15
Show member pathways
11.27 ACTL6A ACTL6B ARID1A ARID1B DPF1 DPF2
16
Show member pathways
11.21 ACTL6A ACTL6B ARID1A ARID1B SMARCA2 SMARCA4
17 10.85 SMARCE1 SMARCB1 SMARCA4

GO Terms for Clark-Baraitser Syndrome

Cellular components related to Clark-Baraitser Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.77 ACTL6A ACTL6B ADNP ARID1A ARID1B ARID2
2 nucleoplasm GO:0005654 10.71 ACTL6A ARID1A ARID1B ARID2 BANF1 DPF2
3 chromatin GO:0000785 10.6 ACTL6A ACTL6B ADNP ARID1A ARID1B ARID2
4 SWI/SNF complex GO:0016514 10.55 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
5 nBAF complex GO:0071565 10.54 ARID1A ACTL6B ARID1B DPF1 DPF2 SMARCA2
6 kinetochore GO:0000776 10.46 ACTL6A ACTL6B ARID2 SMARCA4 SMARCB1 SMARCC1
7 nuclear matrix GO:0016363 10.45 ACTL6A ACTL6B ARID2 SMARCA4 SMARCB1 SMARCC1
8 brahma complex GO:0035060 10.4 ACTL6A ACTL6B ARID1A ARID1B SMARCA2 SMARCB1
9 protein-containing complex GO:0032991 10.37 SMARCE1 SMARCC2 SMARCC1 SMARCB1 SMARCA4 ARID1B
10 RSC-type complex GO:0016586 10.28 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCD1 SMARCE1
11 GBAF complex GO:0140288 10.26 SMARCD1 SMARCC1 SMARCA4 SMARCA2 ACTL6B ACTL6A
12 bBAF complex GO:0140092 10.06 ACTL6B ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1
13 DNA packaging complex GO:0044815 9.86 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
14 npBAF complex GO:0071564 9.62 ACTL6A ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1
15 chromosomal region GO:0098687 9.55 SMARCC2 SMARCC1
16 SWI/SNF superfamily-type complex GO:0070603 9.5 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1

Biological processes related to Clark-Baraitser Syndrome according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.71 ACTL6A ACTL6B ADNP ARID1A ARID1B ARID2
2 regulation of mitotic metaphase/anaphase transition GO:0030071 10.67 ARID1A ARID1B ARID2 DPF1 DPF2 SMARCA2
3 regulation of G0 to G1 transition GO:0070316 10.66 ACTL6A ACTL6B ARID1A ARID1B ARID2 DPF1
4 chromatin remodeling GO:0006338 10.62 ACTL6A ACTL6B ARID1A ARID1B ARID2 DPF1
5 positive regulation of DNA-templated transcription GO:0045893 10.6 ACTL6A ACTL6B ARID1A ARID1B SMARCA2 SMARCA4
6 regulation of nucleotide-excision repair GO:2000819 10.58 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
7 nervous system development GO:0007399 10.57 ACTL6A ACTL6B ARID1A ARID1B DPF1 DPF2
8 regulation of G1/S transition of mitotic cell cycle GO:2000045 10.55 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4
9 positive regulation of T cell differentiation GO:0045582 10.45 ARID1A ARID1B ARID2 SMARCA2 SMARCA4 SMARCB1
10 positive regulation of cell population proliferation GO:0008284 10.44 SOX11 SMARCD1 SMARCC1 SMARCA4 SMARCA2 ACTL6B
11 negative regulation of DNA-templated transcription GO:0045892 10.42 SMARCE1 SMARCC2 SMARCA4 SMARCA2 DPF2 DPF1
12 chromatin organization GO:0006325 10.4 SMARCC1 SMARCC2 SMARCD1 SMARCE1 ACTL6A ACTL6B
13 positive regulation of myoblast differentiation GO:0045663 10.4 ACTL6A ACTL6B ARID1A ARID1B ARID2 SMARCA2
14 negative regulation of cell differentiation GO:0045596 10.33 SMARCD1 SMARCC1 SMARCA4 SMARCA2 ACTL6B ACTL6A
15 positive regulation of stem cell population maintenance GO:1902459 10.26 ACTL6A ACTL6B ARID1A DPF2 SMARCA2 SMARCA4
16 positive regulation of double-strand break repair GO:2000781 10.1 ACTL6A ACTL6B ARID1A ARID1B ARID2 DPF1
17 spinal cord development GO:0021510 10.08 SOX11 ACTL6B ACTL6A
18 transcription initiation-coupled chromatin remodeling GO:0045815 10.06 ARID1A ARID1B SMARCD1
19 nucleosome disassembly GO:0006337 10.06 ARID1A ARID2 SMARCA4 SMARCB1 SMARCC1 SMARCC2
20 DNA integration GO:0015074 9.94 SMARCB1 BANF1
21 RNA polymerase I preinitiation complex assembly GO:0001188 9.93 SMARCB1 SMARCA4
22 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.93 SMARCB1 SMARCA4
23 positive regulation of glucose mediated signaling pathway GO:1902661 9.91 SMARCA4 SMARCB1
24 DNA-templated transcription elongation GO:0006354 9.88 SMARCD1 SMARCB1 DPF2 DPF1
25 regulation of chromosome organization GO:0033044 9.87 SMARCC2 SMARCC1 ACTL6A
26 positive regulation of cell differentiation GO:0045597 9.74 ACTL6A ACTL6B ARID1A ARID1B ARID2 DPF1
27 positive regulation of response to stimulus GO:0048584 9.62 SMARCC2 SMARCC1
28 positive regulation of DNA metabolic process GO:0051054 9.62 SMARCC2 SMARCC1
29 regulation of multicellular organismal development GO:2000026 9.61 SMARCC1 SMARCC2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.3 ADNP ARID1A ARID1B ARID2 BANF1 H2AC18
2 transcription coregulator activity GO:0003712 10.01 SMARCD1 SMARCB1 DPF2 DPF1
3 histone binding GO:0042393 10 DPF1 DPF2 SMARCA2 SMARCA4 SMARCC1 SMARCC2
4 chromatin binding GO:0003682 10 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCA2 ADNP
5 protein N-terminus binding GO:0047485 9.97 SMARCE1 SMARCC1 SMARCA4 BANF1
6 Tat protein binding GO:0030957 9.76 SMARCB1 SMARCA4
7 RNA polymerase I core promoter sequence-specific DNA binding GO:0001164 9.73 SMARCA4 SMARCB1
8 nucleosomal DNA binding GO:0031492 9.73 ACTL6A SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCE1
9 transcription coactivator activity GO:0003713 9.66 SMARCE1 SMARCD1 SMARCC2 SMARCC1 SMARCB1 SMARCA4

Sources for Clark-Baraitser Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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