MCID: NCL006
MIFTS: 40

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 54 23 50 24 25 56 71 29 13
Ncbrs 23 50 24 25 71
Nbs 25 71 3
Sparse Hair and Mental Retardation 50 71
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome 56
Nicolaides Baraitser Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
intellectual disability-sparse hair-brachydactyly syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
all cases presumed de novo mutation


HPO:

32
nicolaides-baraitser syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 : 50 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. last updated: 5/13/2015

MalaCards based summary : Nicolaides-Baraitser Syndrome, also known as ncbrs, is related to nijmegen breakage syndrome and neuroblastoma, and has symptoms including short stature, failure to thrive and scoliosis. 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 Chromatin organization and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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)

GeneReviews: NBK321516

Related Diseases for Nicolaides-Baraitser Syndrome

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:

54

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

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

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

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

Neurologic- Behavioral Psychiatric Manifestations:
aggression
tantrums

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- Mouth:
large mouth
thin upper vermilion
thick lower vermilion
everted lower lip

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Face:
long philtrum
triangular face
broad philtrum

Skeletal- Feet:
short phalanges
sandal gap
short metatarsals

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:

32 (show all 32)
id Description HPO Frequency HPO Source Accession
1 short stature 32 very rare (1%) HP:0004322
2 failure to thrive 32 HP:0001508
3 scoliosis 32 very rare (1%) HP:0002650
4 brachydactyly 32 HP:0001156
5 sparse scalp hair 32 HP:0002209
6 wide mouth 32 HP:0000154
7 intellectual disability, severe 32 HP:0010864
8 absent speech 32 HP:0001344
9 seizures 32 HP:0001250
10 microcephaly 32 HP:0000252
11 intrauterine growth retardation 32 HP:0001511
12 anteverted nares 32 HP:0000463
13 cryptorchidism 32 HP:0000028
14 low anterior hairline 32 HP:0000294
15 poor speech 32 HP:0002465
16 aggressive behavior 32 HP:0000718
17 long philtrum 32 HP:0000343
18 triangular face 32 HP:0000325
19 downslanted palpebral fissures 32 very rare (1%) HP:0000494
20 widely spaced teeth 32 very rare (1%) HP:0000687
21 broad philtrum 32 HP:0000289
22 sandal gap 32 HP:0001852
23 eczema 32 very rare (1%) HP:0000964
24 wide nasal base 32 HP:0012810
25 narrow nasal bridge 32 very rare (1%) HP:0000446
26 prominent interphalangeal joints 32 HP:0006237
27 thick lower lip vermilion 32 HP:0000179
28 short metacarpal 32 HP:0010049
29 short metatarsal 32 HP:0010743
30 everted lower lip vermilion 32 HP:0000232
31 short phalanx of finger 32 HP:0009803
32 unilateral narrow palpebral fissure 32 very rare (1%) HP:0007946

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:

id Genetic test Affiliating Genes
1 Nicolaides-Baraitser Syndrome 29 24 SMARCA2

Anatomical Context for Nicolaides-Baraitser Syndrome

MalaCards organs/tissues related to Nicolaides-Baraitser Syndrome:

39
Skin

Publications for Nicolaides-Baraitser Syndrome

Articles related to Nicolaides-Baraitser Syndrome:

(show all 15)
id Title Authors Year
1
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. ( 28948053 )
2017
2
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. ( 27665729 )
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
Phenotype and genotype in Nicolaides-Baraitser syndrome. ( 25169058 )
2014
7
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
8
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. ( 22822383 )
2012
9
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. ( 22366787 )
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:

71 (show all 32)
id 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 all 24)
id 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.3604G> T (p.Gly1202Cys) single nucleotide variant Pathogenic rs281875239 GRCh37 Chromosome 9, 2115969: 2115969
3 SMARCA2 NM_003070.4(SMARCA2): c.3476G> A (p.Arg1159Gln) single nucleotide variant Pathogenic rs281875187 GRCh37 Chromosome 9, 2115841: 2115841
4 SMARCA2 NM_003070.4(SMARCA2): c.3473A> T (p.Asp1158Val) single nucleotide variant Pathogenic rs281875240 GRCh37 Chromosome 9, 2115838: 2115838
5 SMARCA2 NM_003070.4(SMARCA2): c.3475C> G (p.Arg1159Gly) single nucleotide variant Pathogenic rs281875184 GRCh37 Chromosome 9, 2115840: 2115840
6 SMARCA2 NM_003070.4(SMARCA2): c.2642G> T (p.Gly881Val) single nucleotide variant Pathogenic rs281875185 GRCh37 Chromosome 9, 2086944: 2086944
7 SMARCA2 NM_003070.4(SMARCA2): c.3485G> A (p.Arg1162His) single nucleotide variant Pathogenic rs281875186 GRCh37 Chromosome 9, 2115850: 2115850
8 SMARCA2 NM_003070.4(SMARCA2): c.3476G> T (p.Arg1159Leu) single nucleotide variant Pathogenic rs281875187 GRCh37 Chromosome 9, 2115841: 2115841
9 SMARCA2 NM_003070.4(SMARCA2): c.2648C> T (p.Pro883Leu) single nucleotide variant Pathogenic rs281875188 GRCh37 Chromosome 9, 2086950: 2086950
10 SMARCA2 NM_003070.4(SMARCA2): c.3602C> T (p.Ala1201Val) single nucleotide variant Pathogenic rs281875189 GRCh37 Chromosome 9, 2115967: 2115967
11 SMARCA2 NM_003070.4(SMARCA2): c.2815C> T (p.His939Tyr) single nucleotide variant Pathogenic rs281875190 GRCh37 Chromosome 9, 2088545: 2088545
12 SMARCA2 NM_003070.4(SMARCA2): c.2255G> C (p.Gly752Ala) single nucleotide variant Pathogenic rs281875198 GRCh37 Chromosome 9, 2081902: 2081902
13 SMARCA2 SMARCA2, 55-KB DEL deletion Pathogenic
14 SMARCA2 NM_003070.4(SMARCA2): c.3395G> A (p.Gly1132Asp) single nucleotide variant Pathogenic rs387907194 GRCh37 Chromosome 9, 2110356: 2110356
15 SMARCA2 NM_003070.4(SMARCA2): c.2486C> T (p.Thr829Ile) single nucleotide variant Likely pathogenic rs797045974 GRCh38 Chromosome 9, 2084156: 2084156
16 SMARCA2 NM_003070.4(SMARCA2): c.3493C> A (p.Gln1165Lys) single nucleotide variant Likely pathogenic rs797045976 GRCh37 Chromosome 9, 2115858: 2115858
17 SMARCA2 NM_003070.4(SMARCA2): c.1600G> T (p.Asp534Tyr) single nucleotide variant Likely pathogenic rs863224922 GRCh37 Chromosome 9, 2060894: 2060894
18 SMARCA2 NM_003070.4(SMARCA2): c.3482A> G (p.His1161Arg) single nucleotide variant Likely pathogenic rs863224921 GRCh37 Chromosome 9, 2115847: 2115847
19 SMARCA2 NM_003070.4(SMARCA2): c.2552A> G (p.Asp851Gly) single nucleotide variant Likely pathogenic rs886041045 GRCh38 Chromosome 9, 2086854: 2086854
20 SMARCA2 NM_003070.4(SMARCA2): c.3562G> A (p.Ala1188Thr) single nucleotide variant Likely pathogenic rs281875196 GRCh37 Chromosome 9, 2115927: 2115927
21 ARID1B NM_017519.2(ARID1B): c.1735C> T (p.Gln579Ter) single nucleotide variant Pathogenic rs1060499668 GRCh38 Chromosome 6, 156829419: 156829419
22 SMARCA2 NM_003070.4(SMARCA2): c.2348C> G (p.Ser783Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 2081995: 2081995
23 SMARCA2 NM_003070.4(SMARCA2): c.2648C> A (p.Pro883Gln) single nucleotide variant Likely pathogenic rs281875188 GRCh37 Chromosome 9, 2086950: 2086950
24 SMARCA2 NM_003070.4(SMARCA2): c.2853G> C (p.Lys951Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 2088583: 2088583

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.8 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:

id 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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....