MCID: NCL006
MIFTS: 44

Nicolaides-Baraitser Syndrome

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

Aliases & Classifications for Nicolaides-Baraitser Syndrome

MalaCards integrated aliases for Nicolaides-Baraitser Syndrome:

Name: Nicolaides-Baraitser Syndrome 57 24 53 25 59 75 37 29 13 6 40
Ncbrs 57 24 53 25 75
Nbs 57 25 75 3
Sparse Hair and Mental Retardation 57 53 75
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome 59
Nicolaides Baraitser Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-sparse hair-brachydactyly syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
all cases presumed de novo mutation


HPO:

32
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:



Summaries for Nicolaides-Baraitser Syndrome

NIH Rare Diseases : 53 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 abnormality of epiphysis morphology

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

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.

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.

Wikipedia : 76 Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations... 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 all 46)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 12.1
2 neuroblastoma 11.8
3 nijmegen breakage syndrome-like disorder 11.1
4 prostatitis 10.2
5 suppression of tumorigenicity 12 10.2
6 adenocarcinoma 10.2
7 autism 10.2
8 autism spectrum disorder 10.2
9 epilepsy 10.2
10 hypotrichosis 10.2
11 myoclonic astatic epilepsy 10.2
12 trichomegaly 10.0
13 oliver-mcfarlane syndrome 10.0
14 retinitis 10.0
15 retinal degeneration 10.0
16 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 10.0
17 lymphoma 9.9
18 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
19 mycosis fungoides 9.9
20 hemolytic anemia 9.9
21 rabies 9.9
22 rosacea 9.9
23 psoriasis 9.9
24 lentigines 9.7
25 acyl-coa dehydrogenase, very long-chain, deficiency of 9.7
26 lipoid congenital adrenal hyperplasia 9.7
27 argininemia 9.7
28 ataxia-telangiectasia 9.7
29 lymphoma, hodgkin, classic 9.7
30 dermatitis, atopic 9.7
31 lymphoma, non-hodgkin, familial 9.7
32 leukemia, acute lymphoblastic 9.7
33 granuloma annulare 9.7
34 leukemia 9.7
35 cervical neuroblastoma 9.7
36 lymphoblastic leukemia 9.7
37 gaucher's disease 9.7
38 cervicitis 9.7
39 dermatitis 9.7
40 histiocytosis 9.7
41 neuronitis 9.7
42 localized pagetoid reticulosis 9.7
43 indeterminate cell histiocytosis 9.7
44 coffin-siris syndrome 1 9.6 ARID1B SMARCA2
45 borjeson-forssman-lehmann syndrome 9.5 ARID1B SMARCA2
46 trehalase deficiency 9.2 ARID1B SMARCA2

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



Diseases related to Nicolaides-Baraitser Syndrome

Symptoms & Phenotypes for Nicolaides-Baraitser Syndrome

Symptoms via clinical synopsis from OMIM:

57
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)

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Nicolaides-Baraitser Syndrome:

59 32 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
2 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 Frequent (79-30%) HP:0001250
5 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
6 scoliosis 59 32 very rare (1%) Frequent (79-30%) HP:0002650
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
11 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
12 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
13 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
14 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
15 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
16 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
17 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
18 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
19 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
20 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
21 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
22 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
23 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
24 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
25 absence seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002121
26 downslanted palpebral fissures 59 32 very rare (1%) Occasional (29-5%) HP:0000494
27 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
28 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
29 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
30 abnormal hair pattern 59 32 frequent (33%) Frequent (79-30%) HP:0010720
31 severe short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003510
32 eczema 59 32 very rare (1%) Frequent (79-30%) HP:0000964
33 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
34 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
35 clubbing of toes 59 32 frequent (33%) Frequent (79-30%) HP:0100760
36 curly eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0007665
37 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
38 narrow nasal bridge 59 32 very rare (1%) Frequent (79-30%) HP:0000446
39 long eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000527
40 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
41 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
42 abnormality of cardiovascular system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030680
43 status epilepticus 59 32 frequent (33%) Frequent (79-30%) HP:0002133
44 broad distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009836
45 short palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0012745
46 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
47 echolalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010529
48 mutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002300
49 epileptic spasms 59 32 frequent (33%) Frequent (79-30%) HP:0011097
50 failure to thrive 32 HP:0001508

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:

41
Skin, Bone, Testis

Publications for Nicolaides-Baraitser Syndrome

Articles related to Nicolaides-Baraitser Syndrome:

(show all 16)
# Title Authors Year
1
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. ( 27665729 )
2017
2
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. ( 28948053 )
2017
3
Supernumeraries in Nicolaides-Baraitser Syndrome. ( 28635076 )
2017
4
Nicolaides-Baraitser syndrome: defining a phenotype. ( 27286846 )
2016
5
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. ( 27099726 )
2016
6
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. ( 25724810 )
2015
7
Phenotype and genotype in Nicolaides-Baraitser syndrome. ( 25169058 )
2014
8
A comprehensive molecular study on Coffin-Siris and Nicolaides- Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. ( 23906836 )
2013
9
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. ( 22366787 )
2012
10
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. ( 22822383 )
2012
11
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. ( 20802310 )
2011
12
Nicolaides-Baraitser syndrome: Delineation of the phenotype. ( 19606471 )
2009
13
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. ( 19119135 )
2008
14
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. ( 14564210 )
2003
15
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? ( 12872821 )
2003
16
Nicolaides-Baraitser Syndrome ( 26468571 )
1993

Variations for Nicolaides-Baraitser Syndrome

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

75 (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
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 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA2 NM_003070.4(SMARCA2): c.3637C> T (p.Arg1213Trp) single nucleotide variant Pathogenic rs281875238 GRCh37 Chromosome 9, 2116002: 2116002
2 SMARCA2 NM_003070.4(SMARCA2): c.3637C> T (p.Arg1213Trp) single nucleotide variant Pathogenic rs281875238 GRCh38 Chromosome 9, 2116002: 2116002
3 SMARCA2 NM_003070.4(SMARCA2): c.3604G> T (p.Gly1202Cys) single nucleotide variant Pathogenic rs281875239 GRCh37 Chromosome 9, 2115969: 2115969
4 SMARCA2 NM_003070.4(SMARCA2): c.3604G> T (p.Gly1202Cys) single nucleotide variant Pathogenic rs281875239 GRCh38 Chromosome 9, 2115969: 2115969
5 SMARCA2 NM_003070.4(SMARCA2): c.3476G> A (p.Arg1159Gln) single nucleotide variant Pathogenic rs281875187 GRCh37 Chromosome 9, 2115841: 2115841
6 SMARCA2 NM_003070.4(SMARCA2): c.3476G> A (p.Arg1159Gln) single nucleotide variant Pathogenic rs281875187 GRCh38 Chromosome 9, 2115841: 2115841
7 SMARCA2 NM_003070.4(SMARCA2): c.3473A> T (p.Asp1158Val) single nucleotide variant Pathogenic rs281875240 GRCh37 Chromosome 9, 2115838: 2115838
8 SMARCA2 NM_003070.4(SMARCA2): c.3473A> T (p.Asp1158Val) single nucleotide variant Pathogenic rs281875240 GRCh38 Chromosome 9, 2115838: 2115838
9 SMARCA2 NM_003070.4(SMARCA2): c.3475C> G (p.Arg1159Gly) single nucleotide variant Pathogenic rs281875184 GRCh37 Chromosome 9, 2115840: 2115840
10 SMARCA2 NM_003070.4(SMARCA2): c.3475C> G (p.Arg1159Gly) single nucleotide variant Pathogenic rs281875184 GRCh38 Chromosome 9, 2115840: 2115840
11 SMARCA2 NM_003070.4(SMARCA2): c.2642G> T (p.Gly881Val) single nucleotide variant Pathogenic rs281875185 GRCh37 Chromosome 9, 2086944: 2086944
12 SMARCA2 NM_003070.4(SMARCA2): c.2642G> T (p.Gly881Val) single nucleotide variant Pathogenic rs281875185 GRCh38 Chromosome 9, 2086944: 2086944
13 SMARCA2 NM_003070.4(SMARCA2): c.3485G> A (p.Arg1162His) single nucleotide variant Pathogenic rs281875186 GRCh37 Chromosome 9, 2115850: 2115850
14 SMARCA2 NM_003070.4(SMARCA2): c.3485G> A (p.Arg1162His) single nucleotide variant Pathogenic rs281875186 GRCh38 Chromosome 9, 2115850: 2115850
15 SMARCA2 NM_003070.4(SMARCA2): c.3476G> T (p.Arg1159Leu) single nucleotide variant Pathogenic rs281875187 GRCh37 Chromosome 9, 2115841: 2115841
16 SMARCA2 NM_003070.4(SMARCA2): c.3476G> T (p.Arg1159Leu) single nucleotide variant Pathogenic rs281875187 GRCh38 Chromosome 9, 2115841: 2115841
17 SMARCA2 NM_003070.4(SMARCA2): c.2648C> T (p.Pro883Leu) single nucleotide variant Pathogenic rs281875188 GRCh37 Chromosome 9, 2086950: 2086950
18 SMARCA2 NM_003070.4(SMARCA2): c.2648C> T (p.Pro883Leu) single nucleotide variant Pathogenic rs281875188 GRCh38 Chromosome 9, 2086950: 2086950
19 SMARCA2 NM_003070.4(SMARCA2): c.3602C> T (p.Ala1201Val) single nucleotide variant Pathogenic rs281875189 GRCh37 Chromosome 9, 2115967: 2115967
20 SMARCA2 NM_003070.4(SMARCA2): c.3602C> T (p.Ala1201Val) single nucleotide variant Pathogenic rs281875189 GRCh38 Chromosome 9, 2115967: 2115967
21 SMARCA2 NM_003070.4(SMARCA2): c.2815C> T (p.His939Tyr) single nucleotide variant Pathogenic rs281875190 GRCh37 Chromosome 9, 2088545: 2088545
22 SMARCA2 NM_003070.4(SMARCA2): c.2815C> T (p.His939Tyr) single nucleotide variant Pathogenic rs281875190 GRCh38 Chromosome 9, 2088545: 2088545
23 SMARCA2 NM_003070.4(SMARCA2): c.2255G> C (p.Gly752Ala) single nucleotide variant Pathogenic rs281875198 GRCh37 Chromosome 9, 2081902: 2081902
24 SMARCA2 NM_003070.4(SMARCA2): c.2255G> C (p.Gly752Ala) single nucleotide variant Pathogenic rs281875198 GRCh38 Chromosome 9, 2081902: 2081902
25 SMARCA2 SMARCA2, 55-KB DEL deletion Pathogenic
26 SMARCA2 NM_003070.4(SMARCA2): c.3395G> A (p.Gly1132Asp) single nucleotide variant Pathogenic rs387907194 GRCh37 Chromosome 9, 2110356: 2110356
27 SMARCA2 NM_003070.4(SMARCA2): c.3395G> A (p.Gly1132Asp) single nucleotide variant Pathogenic rs387907194 GRCh38 Chromosome 9, 2110356: 2110356
28 SMARCA2 NM_003070.4(SMARCA2): c.1854C> T (p.Asp618=) single nucleotide variant Conflicting interpretations of pathogenicity rs140464170 GRCh37 Chromosome 9, 2073319: 2073319
29 SMARCA2 NM_003070.4(SMARCA2): c.1854C> T (p.Asp618=) single nucleotide variant Conflicting interpretations of pathogenicity rs140464170 GRCh38 Chromosome 9, 2073319: 2073319
30 SMARCA2 NM_003070.4(SMARCA2): c.2486C> T (p.Thr829Ile) single nucleotide variant Likely pathogenic rs797045974 GRCh37 Chromosome 9, 2084156: 2084156
31 SMARCA2 NM_003070.4(SMARCA2): c.2486C> T (p.Thr829Ile) single nucleotide variant Likely pathogenic rs797045974 GRCh38 Chromosome 9, 2084156: 2084156
32 SMARCA2 NM_003070.4(SMARCA2): c.3493C> A (p.Gln1165Lys) single nucleotide variant Likely pathogenic rs797045976 GRCh37 Chromosome 9, 2115858: 2115858
33 SMARCA2 NM_003070.4(SMARCA2): c.3493C> A (p.Gln1165Lys) single nucleotide variant Likely pathogenic rs797045976 GRCh38 Chromosome 9, 2115858: 2115858
34 SMARCA2 NM_003070.4(SMARCA2): c.1600G> T (p.Asp534Tyr) single nucleotide variant Likely pathogenic rs863224922 GRCh37 Chromosome 9, 2060894: 2060894
35 SMARCA2 NM_003070.4(SMARCA2): c.1600G> T (p.Asp534Tyr) single nucleotide variant Likely pathogenic rs863224922 GRCh38 Chromosome 9, 2060894: 2060894
36 SMARCA2 NM_003070.4(SMARCA2): c.3482A> G (p.His1161Arg) single nucleotide variant Likely pathogenic rs863224921 GRCh37 Chromosome 9, 2115847: 2115847
37 SMARCA2 NM_003070.4(SMARCA2): c.3482A> G (p.His1161Arg) single nucleotide variant Likely pathogenic rs863224921 GRCh38 Chromosome 9, 2115847: 2115847
38 SMARCA2 NM_003070.4(SMARCA2): c.2552A> G (p.Asp851Gly) single nucleotide variant Likely pathogenic rs886041045 GRCh38 Chromosome 9, 2086854: 2086854
39 SMARCA2 NM_003070.4(SMARCA2): c.2552A> G (p.Asp851Gly) single nucleotide variant Likely pathogenic rs886041045 GRCh37 Chromosome 9, 2086854: 2086854
40 SMARCA2 NM_003070.4(SMARCA2): c.791-7C> T single nucleotide variant Likely benign rs558585794 GRCh37 Chromosome 9, 2047222: 2047222
41 SMARCA2 NM_003070.4(SMARCA2): c.791-7C> T single nucleotide variant Likely benign rs558585794 GRCh38 Chromosome 9, 2047222: 2047222
42 SMARCA2 NM_003070.4(SMARCA2): c.2349-3T> C single nucleotide variant Likely benign rs371183012 GRCh38 Chromosome 9, 2083344: 2083344
43 SMARCA2 NM_003070.4(SMARCA2): c.2349-3T> C single nucleotide variant Likely benign rs371183012 GRCh37 Chromosome 9, 2083344: 2083344
44 SMARCA2 NM_003070.4(SMARCA2): c.2452C> T (p.Leu818=) single nucleotide variant Uncertain significance rs886063776 GRCh37 Chromosome 9, 2084122: 2084122
45 SMARCA2 NM_003070.4(SMARCA2): c.2452C> T (p.Leu818=) single nucleotide variant Uncertain significance rs886063776 GRCh38 Chromosome 9, 2084122: 2084122
46 SMARCA2 NM_003070.4(SMARCA2): c.2770-7C> G single nucleotide variant Likely benign rs114448411 GRCh37 Chromosome 9, 2088493: 2088493
47 SMARCA2 NM_003070.4(SMARCA2): c.2770-7C> G single nucleotide variant Likely benign rs114448411 GRCh38 Chromosome 9, 2088493: 2088493
48 SMARCA2 NM_003070.4(SMARCA2): c.2933A> T (p.Tyr978Phe) single nucleotide variant Likely benign rs78915420 GRCh37 Chromosome 9, 2096706: 2096706
49 SMARCA2 NM_003070.4(SMARCA2): c.2933A> T (p.Tyr978Phe) single nucleotide variant Likely benign rs78915420 GRCh38 Chromosome 9, 2096706: 2096706
50 SMARCA2 NM_003070.4(SMARCA2): c.4207G> A (p.Val1403Met) single nucleotide variant Likely benign rs143797398 GRCh37 Chromosome 9, 2170426: 2170426

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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