NCBRS
MCID: NCL006
MIFTS: 46

Nicolaides-Baraitser Syndrome (NCBRS)

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

Aliases & Classifications for Nicolaides-Baraitser Syndrome

MalaCards integrated aliases for Nicolaides-Baraitser Syndrome:

Name: Nicolaides-Baraitser Syndrome 56 74 24 52 25 58 73 36 29 13 6 39
Ncbrs 56 24 52 25 73
Sparse Hair and Mental Retardation 56 52 73
Nbs 56 25 73
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome 58
Nicolaides Baraitser Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-sparse hair-brachydactyly syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
all cases presumed de novo mutation


HPO:

31
nicolaides-baraitser syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Data are insufficient to determine penetrance. all 61 affected individuals published to date had a de novo pathogenic variant, suggesting that penetrance is likely complete [sousa et al 2014].

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Nicolaides-Baraitser Syndrome

Genetics Home Reference : 25 Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often noticeable in infancy. The amount of hair decreases over time, but the growth rate and texture of the hair that is present is normal. Affected adults generally have very little hair. In rare cases, the amount of scalp hair increases over time. As affected individuals age, their eyebrows may become less full, but their eyelashes almost always remain normal. At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time. Most affected individuals grow slowly, resulting in short stature and microcephaly. Sometimes, growth before birth is unusually slow. The characteristic facial features of people with Nicolaides-Baraitser syndrome include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip. Many affected individuals have a lack of fat under the skin (subcutaneous fat) of the face, which may cause premature wrinkling. Throughout their bodies, people with Nicolaides-Baraitser syndrome may have pale skin with veins that are visible on the skin surface due to the lack of subcutaneous fat. In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the hands makes the finger joints appear larger than normal. Over time, the fingertips become broad and oval shaped. Additionally, there is a wide gap between the first and second toes (known as a sandal gap). Most people with Nicolaides-Baraitser syndrome have epilepsy, which often begins in infancy. Affected individuals can experience multiple seizure types, and the seizures can be difficult to control with medication. Almost everyone with Nicolaides-Baraitser syndrome has moderate to severe intellectual disability. Early developmental milestones, such as crawling and walking, are often normally achieved, but further development is limited, and language development is severely impaired. At least one-third of affected individuals never develop speech, while others lose their verbal communication over time. People with this condition are often described as having a happy demeanor and being very friendly, although they can exhibit moments of aggression and temper tantrums. Other signs and symptoms of Nicolaides-Baraitser syndrome include an inflammatory skin disorder called eczema. About half of individuals with Nicolaides-Baraitser syndrome have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some affected individuals have dental abnormalities such as widely spaced teeth, delayed eruption of teeth, and absent teeth (hypodontia). Most affected males have undescended testes (cryptorchidism) and females may have underdeveloped breasts. Nearly half of individuals with Nicolaides-Baraitser syndrome have feeding problems.

MalaCards based summary : Nicolaides-Baraitser Syndrome, also known as ncbrs, is related to coffin-siris syndrome 1 and chromosome 6q24-q25 deletion syndrome. An important gene associated with Nicolaides-Baraitser Syndrome is SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2), and among its related pathways/superpathways is Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include skin, breast and eye, and related phenotypes are joint dislocation and intellectual disability

NIH Rare Diseases : 52 Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures , short stature , sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly ), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations ) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic , occurring in people with no family history of NCBRS.

OMIM : 56 Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009). (601358)

KEGG : 36 Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease.

UniProtKB/Swiss-Prot : 73 Nicolaides-Baraitser syndrome: A rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time.

Wikipedia : 74 Nicolaides-Baraitser syndrome is a rare genetic condition caused by de novo missense mutations in the... more...

GeneReviews: NBK321516

Related Diseases for Nicolaides-Baraitser Syndrome

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

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 1 30.5 SMARCA2 ARID1B
2 chromosome 6q24-q25 deletion syndrome 30.2 SMARCA2 ARID1B
3 nijmegen breakage syndrome 12.4
4 neuroblastoma 12.1
5 lig4 syndrome 11.5
6 nijmegen breakage syndrome-like disorder 11.5
7 duarte variant galactosemia 11.4
8 alacrima, achalasia, and mental retardation syndrome 10.8
9 microcephaly 10.7
10 vitiligo-associated multiple autoimmune disease susceptibility 6 10.7
11 vitiligo-associated multiple autoimmune disease susceptibility 1 10.7
12 brachydactyly 10.6
13 hypotrichosis 10.5
14 adenocarcinoma 10.5
15 pustulosis of palm and sole 10.5
16 psoriasis 10.5
17 suppression of tumorigenicity 12 10.5
18 teeth, supernumerary 10.3
19 autism 10.3
20 borjeson-forssman-lehmann syndrome 10.3
21 intraocular pressure quantitative trait locus 10.3
22 microcephaly, seizures, and developmental delay 10.3
23 coffin-siris syndrome 2 10.3
24 coffin-siris syndrome 3 10.3
25 coffin-siris syndrome 5 10.3
26 autism spectrum disorder 10.3
27 adams-oliver syndrome 10.3
28 atypical teratoid rhabdoid tumor 10.3
29 cataract 10.3
30 refractive error 10.3
31 chromosome 6q25 microdeletion syndrome 10.3
32 epilepsy with myoclonic-atonic seizures 10.3
33 rare intellectual disability 10.3
34 vitreoretinopathy 10.3
35 rapidly involuting congenital hemangioma 10.3
36 lymphoma 10.3
37 hemolytic anemia 10.3
38 ataxia-telangiectasia 10.2
39 telangiectasis 10.2
40 skin disease 10.2
41 prostate cancer 10.2
42 wilms tumor 1 10.2
43 ataxia and polyneuropathy, adult-onset 10.2
44 spherocytosis, type 1 10.2
45 triiodothyronine receptor auxiliary protein 10.2
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
47 48,xyyy 10.2
48 oliver-mcfarlane syndrome 10.1
49 familial isolated trichomegaly 10.1
50 retinal degeneration 10.1

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



Diseases related to Nicolaides-Baraitser Syndrome

Symptoms & Phenotypes for Nicolaides-Baraitser Syndrome

Human phenotypes related to Nicolaides-Baraitser Syndrome:

58 31 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
9 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
12 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
13 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
14 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
15 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
16 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
17 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
18 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
19 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
20 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
21 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
22 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
23 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
24 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
25 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
26 narrow nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000446
27 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
28 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
29 clubbing of toes 58 31 frequent (33%) Frequent (79-30%) HP:0100760
30 absence seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002121
31 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
32 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
33 eczema 58 31 very rare (1%) Frequent (79-30%) HP:0000964
34 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
35 curly eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0007665
36 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
37 abnormal hair pattern 58 31 frequent (33%) Frequent (79-30%) HP:0010720
38 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
39 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
40 epileptic spasms 58 31 frequent (33%) Frequent (79-30%) HP:0011097
41 excessive wrinkled skin 58 31 frequent (33%) Frequent (79-30%) HP:0007392
42 broad distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009836
43 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
44 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
45 downslanted palpebral fissures 58 31 very rare (1%) Occasional (29-5%) HP:0000494
46 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
47 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
48 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
49 widely spaced teeth 31 very rare (1%) HP:0000687
50 short stature 31 very rare (1%) HP:0004322

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive
intrauterine growth retardation
poor growth

Head And Neck Nose:
anteverted nares
upturned nasal tip
broad nasal base
thick alae nasi
narrow nasal bridge (12 of 22)

Neurologic Central Nervous System:
poor speech
mental retardation, severe
lack of speech
seizures, early onset

Skin Nails Hair Hair:
low anterior hairline
sparse hair
loss of eyebrows
dense or normal eyelashes

Head And Neck Mouth:
large mouth
everted lower lip
thin upper vermilion
thick lower vermilion

Growth Height:
short stature (13 of 23 patients)

Head And Neck Head:
microcephaly, variable

Head And Neck Teeth:
widely spaced teeth (11 of 21)

Skin Nails Hair Skin:
wrinkly skin (13 of 22)
eczema (8 of 23)
pale, sensitive skin

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
long philtrum
broad philtrum
triangular face

Skeletal Feet:
sandal gap
short phalanges
short metatarsals

Skeletal Hands:
prominent interphalangeal joints
short metacarpals
short phalanges
prominent distal phalanges

Neurologic Behavioral Psychiatric Manifestations:
aggression
tantrums

Growth Weight:
low weight (15 of 21)

Head And Neck Eyes:
narrow palpebral fissures (9 of 22)
downslanting palpebral fissures (6 of 22)
sagging periorbital skin

Skeletal Spine:
scoliosis (9 of 22)

Clinical features from OMIM:

601358

Drugs & Therapeutics for Nicolaides-Baraitser Syndrome

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

Genetic Tests for Nicolaides-Baraitser Syndrome

Genetic tests related to Nicolaides-Baraitser Syndrome:

# Genetic test Affiliating Genes
1 Nicolaides-Baraitser Syndrome 29 SMARCA2

Anatomical Context for Nicolaides-Baraitser Syndrome

MalaCards organs/tissues related to Nicolaides-Baraitser Syndrome:

40
Skin, Breast, Eye, Testes, T Cells, B Cells, Bone

Publications for Nicolaides-Baraitser Syndrome

Articles related to Nicolaides-Baraitser Syndrome:

(show all 50)
# Title Authors PMID Year
1
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. 61 24 56 6
22366787 2012
2
Nicolaides-Baraitser syndrome: Delineation of the phenotype. 61 56 6
19606471 2009
3
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. 61 24 6
22822383 2012
4
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. 61 24 56
14564210 2003
5
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 24 6
22426308 2012
6
Nicolaides-Baraitser Syndrome 61 6
26468571 2015
7
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 61 56
25249037 2015
8
Phenotype and genotype in Nicolaides-Baraitser syndrome. 61 24
25169058 2014
9
Another patient with an unusual syndrome of mental retardation and sparse hair? 56
8723571 1996
10
An unusual syndrome with mental retardation and sparse hair. 56
8287185 1993
11
[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome]. 61
32034741 2020
12
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect? 61
31541998 2020
13
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome]. 61
31813144 2019
14
Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4. 61
31375262 2019
15
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. 61
31421289 2019
16
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. 61
31288860 2019
17
Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome. 61
31243159 2019
18
Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome. 61
30707941 2019
19
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability. 61
30838730 2019
20
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 61
30879640 2019
21
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. 61
30459321 2018
22
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. 61
29706634 2018
23
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. 61
29623569 2018
24
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. 61
30123105 2018
25
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 61
28884947 2017
26
Supernumeraries in Nicolaides-Baraitser Syndrome. 61
28635076 2017
27
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 61
28124119 2017
28
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders. 61
28824374 2017
29
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. 61
27665729 2017
30
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. 61
28948053 2017
31
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. 61
27570168 2016
32
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. 61
27264538 2016
33
Nicolaides-Baraitser syndrome: defining a phenotype. 61
27286846 2016
34
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. 61
27112773 2016
35
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. 61
27099726 2016
36
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 61
25724810 2015
37
Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. 61
25954173 2015
38
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. 61
25169878 2014
39
Numerous BAF complex genes are mutated in Coffin-Siris syndrome. 61
25081545 2014
40
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 61
23906836 2013
41
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 61
23929686 2013
42
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. 61
23637025 2013
43
Coffin-Siris Syndrome 61
23556151 2013
44
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. 61
23010866 2012
45
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. 61
20802310 2011
46
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. 61
19119135 2008
47
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? 61
12872821 2003
48
How accurate is the self-reported diagnosis of chronic bronchitis? 61
12377847 2002
49
Evaluation of the Eyberg Child Behavior Inventory as a predictor of disruptive behavior during an initial pediatric dental examination. 61
8054301 1994
50
The evaluation of child behavior during dental examination and treatment using predmedication and placebo. 61
1843989 1991

Variations for Nicolaides-Baraitser Syndrome

ClinVar genetic disease variations for Nicolaides-Baraitser Syndrome:

6 (show top 50) (show all 111) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCA2 NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp)SNV Pathogenic 30008 rs281875238 9:2116002-2116002 9:2116002-2116002
2 SMARCA2 NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)SNV Pathogenic 30009 rs281875239 9:2115969-2115969 9:2115969-2115969
3 SMARCA2 NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)SNV Pathogenic 30010 rs281875187 9:2115841-2115841 9:2115841-2115841
4 SMARCA2 NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val)SNV Pathogenic 30011 rs281875240 9:2115838-2115838 9:2115838-2115838
5 SMARCA2 NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly)SNV Pathogenic 30012 rs281875184 9:2115840-2115840 9:2115840-2115840
6 SMARCA2 NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val)SNV Pathogenic 30013 rs281875185 9:2086944-2086944 9:2086944-2086944
7 SMARCA2 NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)SNV Pathogenic 30014 rs281875186 9:2115850-2115850 9:2115850-2115850
8 SMARCA2 NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu)SNV Pathogenic 30015 rs281875187 9:2115841-2115841 9:2115841-2115841
9 SMARCA2 NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)SNV Pathogenic 30016 rs281875188 9:2086950-2086950 9:2086950-2086950
10 SMARCA2 NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)SNV Pathogenic 30017 rs281875189 9:2115967-2115967 9:2115967-2115967
11 SMARCA2 NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr)SNV Pathogenic 30018 rs281875190 9:2088545-2088545 9:2088545-2088545
12 SMARCA2 NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala)SNV Pathogenic 30019 rs281875198 9:2081902-2081902 9:2081902-2081902
13 SMARCA2 SMARCA2, 55-KB DELdeletion Pathogenic 30020
14 SMARCA2 NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp)SNV Pathogenic 31687 rs387907194 9:2110356-2110356 9:2110356-2110356
15 SMARCA2 NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn)SNV Pathogenic 436805 rs1554624100 9:2088583-2088583 9:2088583-2088583
16 ARID1B NM_017519.2(ARID1B):c.1735C>T (p.Gln579Ter)SNV Pathogenic 397537 rs1060499668 6:157150553-157150553 6:156829419-156829419
17 SMARCA2 NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)SNV Pathogenic 694693 9:2083359-2083359 9:2083359-2083359
18 SMARCA2 NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro)SNV Likely pathogenic 802455 9:2115952-2115952 9:2115952-2115952
19 SMARCA2 NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)SNV Likely pathogenic 436803 rs1554623112 9:2081995-2081995 9:2081995-2081995
20 SMARCA2 NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln)SNV Likely pathogenic 436804 rs281875188 9:2086950-2086950 9:2086950-2086950
21 CDKL5 NM_003159.2(CDKL5):c.2810G>A (p.Cys937Tyr)SNV Likely pathogenic 620063 rs1569231336 X:18668542-18668542 X:18650422-18650422
22 SMARCA2 NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr)SNV Likely pathogenic 369656 rs281875196 9:2115927-2115927 9:2115927-2115927
23 SMARCA2 NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile)SNV Likely pathogenic 212225 rs797045974 9:2084156-2084156 9:2084156-2084156
24 SMARCA2 NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys)SNV Likely pathogenic 212227 rs797045976 9:2115858-2115858 9:2115858-2115858
25 SMARCA2 NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr)SNV Likely pathogenic 217002 rs863224922 9:2060894-2060894 9:2060894-2060894
26 SMARCA2 NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg)SNV Likely pathogenic 217001 rs863224921 9:2115847-2115847 9:2115847-2115847
27 SMARCA2 NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly)SNV Likely pathogenic 267266 rs886041045 9:2086854-2086854 9:2086854-2086854
28 SMARCA2 NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)SNV Conflicting interpretations of pathogenicity 212224 rs140464170 9:2073319-2073319 9:2073319-2073319
29 SMARCA2 NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)SNV Conflicting interpretations of pathogenicity 366194 rs138129490 9:2029197-2029197 9:2029197-2029197
30 SMARCA2 NM_003070.5(SMARCA2):c.4701G>A (p.Val1567=)SNV Uncertain significance 366323 rs886063795 9:2191372-2191372 9:2191372-2191372
31 SMARCA2 NM_003070.5(SMARCA2):c.4738-9T>CSNV Uncertain significance 366326 rs886063796 9:2192695-2192695 9:2192695-2192695
32 SMARCA2 NM_003070.5(SMARCA2):c.3165T>C (p.Leu1055=)SNV Uncertain significance 366218 rs369919125 9:2104042-2104042 9:2104042-2104042
33 SMARCA2 NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)SNV Uncertain significance 366251 rs147135956 9:2186150-2186150 9:2186150-2186150
34 SMARCA2 NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=)SNV Uncertain significance 366212 rs886063776 9:2084122-2084122 9:2084122-2084122
35 SMARCA2 NM_003070.5(SMARCA2):c.4499A>C (p.Lys1500Thr)SNV Uncertain significance 366250 rs759970929 9:2186133-2186133 9:2186133-2186133
36 SMARCA2 NM_003070.5(SMARCA2):c.*197A>GSNV Uncertain significance 366334 rs886063798 9:2192936-2192936 9:2192936-2192936
37 SMARCA2 NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile)SNV Uncertain significance 68760 rs281875191 9:2081914-2081914 9:2081914-2081914
38 SMARCA2 NM_003070.5(SMARCA2):c.*694T>GSNV Uncertain significance 366340 rs886063800 9:2193433-2193433 9:2193433-2193433
39 SMARCA2 NM_003070.5(SMARCA2):c.*5T>CSNV Uncertain significance 366328 rs886063797 9:2192744-2192744 9:2192744-2192744
40 SMARCA2 NM_003070.5(SMARCA2):c.*29C>TSNV Uncertain significance 366331 rs758742198 9:2192768-2192768 9:2192768-2192768
41 SMARCA2 NM_003070.5(SMARCA2):c.3389G>A (p.Gly1130Asp)SNV Uncertain significance 623322 rs1563774743 9:2110350-2110350 9:2110350-2110350
42 SMARCA2 NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr)SNV Uncertain significance 451242 rs1554618664 9:2056738-2056738 9:2056738-2056738
43 SMARCA2 NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr)SNV Uncertain significance 522971 rs145516397 9:2029053-2029053 9:2029053-2029053
44 SMARCA2 NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)SNV Uncertain significance 561113 rs1554623112 9:2081995-2081995 9:2081995-2081995
45 SMARCA2 NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro)SNV Uncertain significance 366199 rs147609454 9:2039787-2039787 9:2039787-2039787
46 SMARCA2 NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=)SNV Uncertain significance 366214 rs761701446 9:2096680-2096680 9:2096680-2096680
47 SMARCA2 NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=)SNV Uncertain significance 366219 rs147154246 9:2104144-2104144 9:2104144-2104144
48 SMARCA2 NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=)SNV Uncertain significance 366325 rs61761955 9:2191396-2191396 9:2191396-2191396
49 SMARCA2 NM_003070.5(SMARCA2):c.929C>A (p.Pro310Gln)SNV Uncertain significance 802454 9:2047367-2047367 9:2047367-2047367
50 SMARCA2 NM_003070.5(SMARCA2):c.*537T>CSNV Uncertain significance 366338 rs759183108 9:2193276-2193276 9:2193276-2193276

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

73 (show all 32)
# Symbol AA change Variation ID SNP ID
1 SMARCA2 p.Gly752Ala VAR_068180 rs281875198
2 SMARCA2 p.Lys755Arg VAR_068181 rs281875203
3 SMARCA2 p.Thr756Ile VAR_068182 rs281875191
4 SMARCA2 p.Asp851His VAR_068183 rs281875206
5 SMARCA2 p.Glu852Asp VAR_068184 rs281875193
6 SMARCA2 p.Glu852Lys VAR_068185 rs281875199
7 SMARCA2 p.His854Asn VAR_068186
8 SMARCA2 p.His854Arg VAR_068187 rs281875202
9 SMARCA2 p.Arg855Gly VAR_068188 rs281875207
10 SMARCA2 p.Gly881Arg VAR_068189 rs281875194
11 SMARCA2 p.Gly881Val VAR_068190 rs281875185
12 SMARCA2 p.Pro883Leu VAR_068191 rs281875188
13 SMARCA2 p.His939Tyr VAR_068192 rs281875190
14 SMARCA2 p.Leu946Phe VAR_068193 rs281875205
15 SMARCA2 p.Leu946Ser VAR_068194 rs281875200
16 SMARCA2 p.Arg1105Cys VAR_068195 rs281875192
17 SMARCA2 p.Arg1105Pro VAR_068196 rs281875197
18 SMARCA2 p.Leu1135Pro VAR_068197 rs281875195
19 SMARCA2 p.Ser1146Arg VAR_068198 rs281875204
20 SMARCA2 p.Asp1158Val VAR_068199 rs281875240
21 SMARCA2 p.Arg1159Gly VAR_068200 rs281875184
22 SMARCA2 p.Arg1159Leu VAR_068201 rs281875187
23 SMARCA2 p.Arg1159Gln VAR_068202 rs281875187
24 SMARCA2 p.Arg1162His VAR_068203 rs281875186
25 SMARCA2 p.Ala1188Pro VAR_068204 rs281875196
26 SMARCA2 p.Ala1201Val VAR_068205 rs281875189
27 SMARCA2 p.Gly1202Cys VAR_068206 rs281875239
28 SMARCA2 p.Asp1205Gly VAR_068207 rs281875201
29 SMARCA2 p.Arg1213Trp VAR_068208 rs281875238
30 SMARCA2 p.Arg855Gln VAR_076936 rs147148270
31 SMARCA2 p.Thr880Ile VAR_076937
32 SMARCA2 p.Gln1241Glu VAR_078815

Expression for Nicolaides-Baraitser Syndrome

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

Pathways for Nicolaides-Baraitser Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.47 SMARCA2 ARID1B

GO Terms for Nicolaides-Baraitser Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 8.96 SMARCA2 ARID1B
2 nBAF complex GO:0071565 8.62 SMARCA2 ARID1B

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

# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 8.62 SMARCA2 ARID1B

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.62 SMARCA2 ARID1B

Sources for Nicolaides-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
Content
Loading form....