NCBRS
MCID: NCL006
MIFTS: 45

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 58 77 25 54 26 60 76 38 30 13 6 41
Ncbrs 58 25 54 26 76
Nbs 58 26 76 3
Sparse Hair and Mental Retardation 58 54 76
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome 60
Nicolaides Baraitser Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
intellectual disability-sparse hair-brachydactyly syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
all cases presumed de novo mutation


HPO:

33
nicolaides-baraitser syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:



Summaries for Nicolaides-Baraitser Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Nicolaides-Baraitser Syndrome, also known as ncbrs, is related to nijmegen breakage syndrome and neuroblastoma. 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 are Gastric cancer and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include skin, bone and testis, and related phenotypes are joint dislocation and intellectual disability

Genetics Home Reference : 26 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.

OMIM : 58 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)

CDC : 3 NBS is an integrated information system that helps local, state, and territorial public health departments manage reportable disease data and send notifiable disease data to CDC.

UniProtKB/Swiss-Prot : 76 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 : 77 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 81)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 12.2
2 neuroblastoma 12.0
3 nijmegen breakage syndrome-like disorder 11.3
4 duarte variant galactosemia 11.2
5 intraocular pressure quantitative trait locus 10.5
6 nodular lymphocyte predominant hodgkin lymphoma 10.5
7 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
8 adenocarcinoma 10.3
9 autism 10.3
10 alacrima, achalasia, and mental retardation syndrome 10.3
11 autism spectrum disorder 10.3
12 epilepsy 10.3
13 hypotrichosis 10.3
14 epilepsy with myoclonic-atonic seizures 10.3
15 suppression of tumorigenicity 12 10.3
16 psoriasis 10.3
17 leukemia 10.2
18 trichomegaly 10.2
19 oliver-mcfarlane syndrome 10.2
20 retinal degeneration 10.2
21 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 10.2
22 psoriasis 2 10.1
23 psoriasis 7 10.1
24 psoriasis 11 10.1
25 psoriasis 13 10.1
26 retinoblastoma 10.1
27 lymphoma 10.1
28 primary orthostatic tremor 10.1
29 prostate cancer 10.0
30 hemolytic anemia 10.0
31 pemphigus foliaceus 10.0
32 mycosis fungoides 10.0
33 granuloma annulare 10.0
34 rabies 10.0
35 gaucher's disease 10.0
36 pustulosis of palm and sole 10.0
37 rapidly involuting congenital hemangioma 10.0
38 isolated optic neuritis 10.0
39 bladder cancer 9.8
40 brachydactyly, type d 9.8
41 lentigines 9.8
42 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8
43 acyl-coa dehydrogenase, very long-chain, deficiency of 9.8
44 lipoid congenital adrenal hyperplasia 9.8
45 argininemia 9.8
46 ataxia-telangiectasia 9.8
47 central hypoventilation syndrome, congenital 9.8
48 cystic fibrosis 9.8
49 lymphoma, hodgkin, classic 9.8
50 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8

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:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001373
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
7 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
8 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
9 thick nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0009928
10 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
11 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
12 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
13 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
14 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
15 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
16 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
17 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
18 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
19 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
20 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
21 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
22 echolalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010529
23 mutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002300
24 scoliosis 60 33 very rare (1%) Frequent (79-30%) HP:0002650
25 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
26 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
27 status epilepticus 60 33 frequent (33%) Frequent (79-30%) HP:0002133
28 sandal gap 60 33 frequent (33%) Frequent (79-30%) HP:0001852
29 abnormal hair pattern 60 33 frequent (33%) Frequent (79-30%) HP:0010720
30 severe short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003510
31 eczema 60 33 very rare (1%) Frequent (79-30%) HP:0000964
32 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
33 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
34 clubbing of toes 60 33 frequent (33%) Frequent (79-30%) HP:0100760
35 curly eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0007665
36 narrow nasal bridge 60 33 very rare (1%) Frequent (79-30%) HP:0000446
37 long eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000527
38 broad distal phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009836
39 short palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0012745
40 excessive wrinkled skin 60 33 frequent (33%) Frequent (79-30%) HP:0007392
41 epileptic spasms 60 33 frequent (33%) Frequent (79-30%) HP:0011097
42 absence seizure 33 frequent (33%) HP:0002121
43 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
44 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
45 hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100790
46 downslanted palpebral fissures 60 33 very rare (1%) Occasional (29-5%) HP:0000494
47 accelerated skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005616
48 abnormality of cardiovascular system morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0030680
49 widely spaced teeth 33 very rare (1%) HP:0000687
50 short stature 33 very rare (1%) HP:0004322

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
intrauterine growth retardation
poor growth

Head And Neck Face:
long philtrum
triangular face
broad philtrum

Skeletal Feet:
sandal gap
short phalanges
short metatarsals

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

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

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 30 SMARCA2

Anatomical Context for Nicolaides-Baraitser Syndrome

MalaCards organs/tissues related to Nicolaides-Baraitser Syndrome:

42
Skin, Bone, Testis

Publications for Nicolaides-Baraitser Syndrome

Articles related to Nicolaides-Baraitser Syndrome:

(show all 15)
# Title Authors Year
1
Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome. ( 30707941 )
2019
2
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. ( 27665729 )
2017
3
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. ( 28948053 )
2017
4
Supernumeraries in Nicolaides-Baraitser Syndrome. ( 28635076 )
2017
5
Nicolaides-Baraitser syndrome: defining a phenotype. ( 27286846 )
2016
6
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. ( 27099726 )
2016
7
Phenotype and genotype in Nicolaides-Baraitser syndrome. ( 25169058 )
2014
8
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. ( 22366787 )
2012
9
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. ( 22822383 )
2012
10
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. ( 20802310 )
2011
11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. ( 19606471 )
2009
12
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. ( 19119135 )
2008
13
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. ( 14564210 )
2003
14
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? ( 12872821 )
2003
15
Nicolaides-Baraitser Syndrome ( 26468571 )
1993

Variations for Nicolaides-Baraitser Syndrome

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

76 (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

ClinVar genetic disease variations for Nicolaides-Baraitser Syndrome:

6 (show top 50) (show all 213)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA2 NM_003070.4(SMARCA2): c.1854C> T (p.Asp618=) single nucleotide variant Conflicting interpretations of pathogenicity rs140464170 GRCh37 Chromosome 9, 2073319: 2073319
2 SMARCA2 NM_003070.4(SMARCA2): c.1854C> T (p.Asp618=) single nucleotide variant Conflicting interpretations of pathogenicity rs140464170 GRCh38 Chromosome 9, 2073319: 2073319
3 SMARCA2 NM_003070.4(SMARCA2): c.2486C> T (p.Thr829Ile) single nucleotide variant Likely pathogenic rs797045974 GRCh37 Chromosome 9, 2084156: 2084156
4 SMARCA2 NM_003070.4(SMARCA2): c.2486C> T (p.Thr829Ile) single nucleotide variant Likely pathogenic rs797045974 GRCh38 Chromosome 9, 2084156: 2084156
5 SMARCA2 NM_003070.4(SMARCA2): c.3493C> A (p.Gln1165Lys) single nucleotide variant Likely pathogenic rs797045976 GRCh37 Chromosome 9, 2115858: 2115858
6 SMARCA2 NM_003070.4(SMARCA2): c.3493C> A (p.Gln1165Lys) single nucleotide variant Likely pathogenic rs797045976 GRCh38 Chromosome 9, 2115858: 2115858
7 SMARCA2 NM_003070.4(SMARCA2): c.1600G> T (p.Asp534Tyr) single nucleotide variant Likely pathogenic rs863224922 GRCh37 Chromosome 9, 2060894: 2060894
8 SMARCA2 NM_003070.4(SMARCA2): c.1600G> T (p.Asp534Tyr) single nucleotide variant Likely pathogenic rs863224922 GRCh38 Chromosome 9, 2060894: 2060894
9 SMARCA2 NM_003070.4(SMARCA2): c.3482A> G (p.His1161Arg) single nucleotide variant Likely pathogenic rs863224921 GRCh37 Chromosome 9, 2115847: 2115847
10 SMARCA2 NM_003070.4(SMARCA2): c.3482A> G (p.His1161Arg) single nucleotide variant Likely pathogenic rs863224921 GRCh38 Chromosome 9, 2115847: 2115847
11 SMARCA2 NM_003070.4(SMARCA2): c.3637C> T (p.Arg1213Trp) single nucleotide variant Pathogenic rs281875238 GRCh37 Chromosome 9, 2116002: 2116002
12 SMARCA2 NM_003070.4(SMARCA2): c.3637C> T (p.Arg1213Trp) single nucleotide variant Pathogenic rs281875238 GRCh38 Chromosome 9, 2116002: 2116002
13 SMARCA2 NM_003070.4(SMARCA2): c.3604G> T (p.Gly1202Cys) single nucleotide variant Pathogenic rs281875239 GRCh37 Chromosome 9, 2115969: 2115969
14 SMARCA2 NM_003070.4(SMARCA2): c.3604G> T (p.Gly1202Cys) single nucleotide variant Pathogenic rs281875239 GRCh38 Chromosome 9, 2115969: 2115969
15 SMARCA2 NM_003070.4(SMARCA2): c.3476G> A (p.Arg1159Gln) single nucleotide variant Pathogenic rs281875187 GRCh37 Chromosome 9, 2115841: 2115841
16 SMARCA2 NM_003070.4(SMARCA2): c.3476G> A (p.Arg1159Gln) single nucleotide variant Pathogenic rs281875187 GRCh38 Chromosome 9, 2115841: 2115841
17 SMARCA2 NM_003070.4(SMARCA2): c.3473A> T (p.Asp1158Val) single nucleotide variant Pathogenic rs281875240 GRCh37 Chromosome 9, 2115838: 2115838
18 SMARCA2 NM_003070.4(SMARCA2): c.3473A> T (p.Asp1158Val) single nucleotide variant Pathogenic rs281875240 GRCh38 Chromosome 9, 2115838: 2115838
19 SMARCA2 NM_003070.4(SMARCA2): c.3475C> G (p.Arg1159Gly) single nucleotide variant Pathogenic rs281875184 GRCh37 Chromosome 9, 2115840: 2115840
20 SMARCA2 NM_003070.4(SMARCA2): c.3475C> G (p.Arg1159Gly) single nucleotide variant Pathogenic rs281875184 GRCh38 Chromosome 9, 2115840: 2115840
21 SMARCA2 NM_003070.4(SMARCA2): c.2642G> T (p.Gly881Val) single nucleotide variant Pathogenic rs281875185 GRCh37 Chromosome 9, 2086944: 2086944
22 SMARCA2 NM_003070.4(SMARCA2): c.2642G> T (p.Gly881Val) single nucleotide variant Pathogenic rs281875185 GRCh38 Chromosome 9, 2086944: 2086944
23 SMARCA2 NM_003070.4(SMARCA2): c.3485G> A (p.Arg1162His) single nucleotide variant Pathogenic rs281875186 GRCh37 Chromosome 9, 2115850: 2115850
24 SMARCA2 NM_003070.4(SMARCA2): c.3485G> A (p.Arg1162His) single nucleotide variant Pathogenic rs281875186 GRCh38 Chromosome 9, 2115850: 2115850
25 SMARCA2 NM_003070.4(SMARCA2): c.3476G> T (p.Arg1159Leu) single nucleotide variant Pathogenic rs281875187 GRCh37 Chromosome 9, 2115841: 2115841
26 SMARCA2 NM_003070.4(SMARCA2): c.3476G> T (p.Arg1159Leu) single nucleotide variant Pathogenic rs281875187 GRCh38 Chromosome 9, 2115841: 2115841
27 SMARCA2 NM_003070.4(SMARCA2): c.2648C> T (p.Pro883Leu) single nucleotide variant Pathogenic rs281875188 GRCh37 Chromosome 9, 2086950: 2086950
28 SMARCA2 NM_003070.4(SMARCA2): c.2648C> T (p.Pro883Leu) single nucleotide variant Pathogenic rs281875188 GRCh38 Chromosome 9, 2086950: 2086950
29 SMARCA2 NM_003070.4(SMARCA2): c.3602C> T (p.Ala1201Val) single nucleotide variant Pathogenic rs281875189 GRCh37 Chromosome 9, 2115967: 2115967
30 SMARCA2 NM_003070.4(SMARCA2): c.3602C> T (p.Ala1201Val) single nucleotide variant Pathogenic rs281875189 GRCh38 Chromosome 9, 2115967: 2115967
31 SMARCA2 NM_003070.4(SMARCA2): c.2815C> T (p.His939Tyr) single nucleotide variant Pathogenic rs281875190 GRCh37 Chromosome 9, 2088545: 2088545
32 SMARCA2 NM_003070.4(SMARCA2): c.2815C> T (p.His939Tyr) single nucleotide variant Pathogenic rs281875190 GRCh38 Chromosome 9, 2088545: 2088545
33 SMARCA2 NM_003070.4(SMARCA2): c.2255G> C (p.Gly752Ala) single nucleotide variant Pathogenic rs281875198 GRCh37 Chromosome 9, 2081902: 2081902
34 SMARCA2 NM_003070.4(SMARCA2): c.2255G> C (p.Gly752Ala) single nucleotide variant Pathogenic rs281875198 GRCh38 Chromosome 9, 2081902: 2081902
35 SMARCA2 SMARCA2, 55-KB DEL deletion Pathogenic
36 SMARCA2 NM_003070.4(SMARCA2): c.3395G> A (p.Gly1132Asp) single nucleotide variant Pathogenic rs387907194 GRCh37 Chromosome 9, 2110356: 2110356
37 SMARCA2 NM_003070.4(SMARCA2): c.3395G> A (p.Gly1132Asp) single nucleotide variant Pathogenic rs387907194 GRCh38 Chromosome 9, 2110356: 2110356
38 SMARCA2 NM_003070.4(SMARCA2): c.2267C> T (p.Thr756Ile) single nucleotide variant Uncertain significance rs281875191 GRCh37 Chromosome 9, 2081914: 2081914
39 SMARCA2 NM_003070.4(SMARCA2): c.2267C> T (p.Thr756Ile) single nucleotide variant Uncertain significance rs281875191 GRCh38 Chromosome 9, 2081914: 2081914
40 SMARCA2 NM_003070.4(SMARCA2): c.-5G> A single nucleotide variant Benign rs10964468 GRCh37 Chromosome 9, 2029018: 2029018
41 SMARCA2 NM_003070.4(SMARCA2): c.-5G> A single nucleotide variant Benign rs10964468 GRCh38 Chromosome 9, 2029018: 2029018
42 SMARCA2 NM_003070.4(SMARCA2): c.1122C> G (p.Thr374=) single nucleotide variant Benign/Likely benign rs138404604 GRCh37 Chromosome 9, 2054672: 2054672
43 SMARCA2 NM_003070.4(SMARCA2): c.1122C> G (p.Thr374=) single nucleotide variant Benign/Likely benign rs138404604 GRCh38 Chromosome 9, 2054672: 2054672
44 SMARCA2 NM_003070.4(SMARCA2): c.174G> A (p.Pro58=) single nucleotide variant Benign rs10964470 GRCh37 Chromosome 9, 2029196: 2029196
45 SMARCA2 NM_003070.4(SMARCA2): c.174G> A (p.Pro58=) single nucleotide variant Benign rs10964470 GRCh38 Chromosome 9, 2029196: 2029196
46 SMARCA2 NM_003070.4(SMARCA2): c.177G> A (p.Thr59=) single nucleotide variant Benign rs10964471 GRCh37 Chromosome 9, 2029199: 2029199
47 SMARCA2 NM_003070.4(SMARCA2): c.177G> A (p.Thr59=) single nucleotide variant Benign rs10964471 GRCh38 Chromosome 9, 2029199: 2029199
48 SMARCA2 NM_003070.4(SMARCA2): c.1827A> G (p.Pro609=) single nucleotide variant Benign rs13288443 GRCh37 Chromosome 9, 2073292: 2073292
49 SMARCA2 NM_003070.4(SMARCA2): c.1827A> G (p.Pro609=) single nucleotide variant Benign rs13288443 GRCh38 Chromosome 9, 2073292: 2073292
50 SMARCA2 NM_003070.4(SMARCA2): c.3672G> A (p.Glu1224=) single nucleotide variant Benign rs6601 GRCh37 Chromosome 9, 2116037: 2116037

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
11.62 ARID1B SMARCA2
2
Show member pathways
10.47 ARID1B SMARCA2

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 ARID1B SMARCA2
2 nBAF complex GO:0071565 8.62 ARID1B SMARCA2

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.96 ARID1B SMARCA2
2 chromatin remodeling GO:0006338 8.62 ARID1B SMARCA2

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 ARID1B SMARCA2

Sources for Nicolaides-Baraitser Syndrome

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