MCID: NCL003
MIFTS: 39

Nicolaides Baraitser Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories

Summaries for Nicolaides Baraitser Syndrome

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48OMIM, 34MalaCards
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MalaCards: Nicolaides Baraitser Syndrome, also known as nicolaides-baraitser syndrome, is related to mental retardation and autism spectrum disorder, and has symptoms including abnormal implantation of hair, eczema and rippled skin. 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 is Transcription Ligand dependent activation of the ESR1 SP pathway. Affiliated tissues include bone, testes and skin.

Description from OMIM:48 601358

Aliases & Classifications for Nicolaides Baraitser Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS, 48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
nicolaides-baraitser syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

nicolaides baraitser syndrome 44 21 23 63
nicolaides-baraitser syndrome 48 50
intellectual disability - sparse hair - brachydactyly 50
sparse hair and mental retardation 44


External Ids:

OMIM48 601358
SNOMED-CT via Orphanet60 401046009

Related Diseases for Nicolaides Baraitser Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Nicolaides Baraitser Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.5
2autism spectrum disorder10.3
3hypotrichosis10.3
4lipodystrophy10.3
5short stature10.3

Graphical network of diseases related to Nicolaides Baraitser Syndrome:



Diseases related to nicolaides baraitser syndrome

Symptoms for Nicolaides Baraitser Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

601358

Clinical features from OMIM:

601358

Symptoms:

50 (show all 37)
  • abnormal implantation of hair
  • eczema
  • rippled skin
  • wide space between 1st-2nd toes
  • terminal broadening/clubbing of toes
  • terminal/third phalangeal bone of fingers broadened/deviated
  • metacarpal anomalies/archibald's sign
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • short stature/dwarfism/nanism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • herniae
  • congenital cardiac anomaly/malformation/cardiopathy
  • delayed bone age
  • advanced bone age
  • epiphyseal anomaly
  • scoliosis
  • abnormally placed nipples
  • philtrum flat/large/featureless/absent cupidon bows
  • long philtrum
  • everted lower lip
  • thin/retracted lips
  • macrostomia/big mouth
  • flared/thick ala nasi
  • anteverted nares/nostrils
  • triangular face
  • high vaulted/narrow palate
  • short hand/brachydactyly
  • narrow nasal bridge
  • long/thick/curved lashes/trichomegaly/polytrichia
  • blepharophimosis/short palpebral fissures
  • high arched eyebrows
  • joint/articular deformation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • microcephaly

Drugs & Therapeutics for Nicolaides Baraitser Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Nicolaides Baraitser Syndrome

Drug clinical trials:

Search ClinicalTrials for Nicolaides Baraitser Syndrome

Search NIH Clinical Center for Nicolaides Baraitser Syndrome

Search CenterWatch for Nicolaides Baraitser Syndrome

Genetic Tests for Nicolaides Baraitser Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Nicolaides Baraitser Syndrome:

id Genetic test Affiliating Genes
1 Nicolaides-Baraitser Syndrome21 23 SMARCA2

Anatomical Context for Nicolaides Baraitser Syndrome

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34MalaCards
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MalaCards organs/tissues related to Nicolaides Baraitser Syndrome:

34
Bone, Testes, Skin

Animal Models for Nicolaides Baraitser Syndrome or affiliated genes

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Publications for Nicolaides Baraitser Syndrome

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53PubMed
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Articles related to Nicolaides Baraitser Syndrome:

idTitleAuthorsYear
1
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (22366787)
2012
2
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. (22822383)
2012
3
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. (20802310)
2011
4
Nicolaides-Baraitser syndrome: Delineation of the phenotype. (19606471)
2009
5
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. (19119135)
2008
6
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? (12872821)
2003
7
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. (14564210)
2003

Variations for Nicolaides Baraitser Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Nicolaides Baraitser Syndrome:

65 (show all 29)
id Symbol AA change Variation ID SNP ID
1SMARCA2p.Gly752AlaVAR_068180rs281875198
2SMARCA2p.Lys755ArgVAR_068181rs281875203
3SMARCA2p.Thr756IleVAR_068182rs281875191
4SMARCA2p.Asp851HisVAR_068183rs281875206
5SMARCA2p.Glu852AspVAR_068184rs281875193
6SMARCA2p.Glu852LysVAR_068185rs281875199
7SMARCA2p.His854AsnVAR_068186
8SMARCA2p.His854ArgVAR_068187rs281875202
9SMARCA2p.Arg855GlyVAR_068188rs281875207
10SMARCA2p.Gly881ArgVAR_068189rs281875194
11SMARCA2p.Gly881ValVAR_068190rs281875185
12SMARCA2p.Pro883LeuVAR_068191rs281875188
13SMARCA2p.His939TyrVAR_068192rs281875190
14SMARCA2p.Leu946PheVAR_068193rs281875205
15SMARCA2p.Leu946SerVAR_068194rs281875200
16SMARCA2p.Arg1105CysVAR_068195rs281875192
17SMARCA2p.Arg1105ProVAR_068196rs281875197
18SMARCA2p.Leu1135ProVAR_068197rs281875195
19SMARCA2p.Ser1146ArgVAR_068198rs281875204
20SMARCA2p.Asp1158ValVAR_068199rs281875240
21SMARCA2p.Arg1159GlyVAR_068200rs281875184
22SMARCA2p.Arg1159LeuVAR_068201rs281875187
23SMARCA2p.Arg1159GlnVAR_068202rs281875187
24SMARCA2p.Arg1162HisVAR_068203rs281875186
25SMARCA2p.Ala1188ProVAR_068204rs281875196
26SMARCA2p.Ala1201ValVAR_068205rs281875189
27SMARCA2p.Gly1202CysVAR_068206rs281875239
28SMARCA2p.Asp1205GlyVAR_068207rs281875201
29SMARCA2p.Arg1213TrpVAR_068208rs281875238

Clinvar genetic disease variations for Nicolaides Baraitser Syndrome:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1SMARCA2NM_003070.4(SMARCA2): c.3637C> T (p.Arg1213Trp)single nucleotide variantPathogenicrs281875238GRCh37Chr 9, 2116002: 2116002
2SMARCA2NM_003070.4(SMARCA2): c.3604G> T (p.Gly1202Cys)single nucleotide variantPathogenicrs281875239GRCh37Chr 9, 2115969: 2115969
3SMARCA2NM_003070.4(SMARCA2): c.3476G> A (p.Arg1159Gln)single nucleotide variantPathogenicrs281875187GRCh37Chr 9, 2115841: 2115841
4SMARCA2NM_003070.4(SMARCA2): c.3473A> T (p.Asp1158Val)single nucleotide variantPathogenicrs281875240GRCh37Chr 9, 2115838: 2115838
5SMARCA2NM_003070.4(SMARCA2): c.3475C> G (p.Arg1159Gly)single nucleotide variantPathogenicrs281875184GRCh37Chr 9, 2115840: 2115840
6SMARCA2NM_003070.4(SMARCA2): c.2642G> T (p.Gly881Val)single nucleotide variantPathogenicrs281875185GRCh37Chr 9, 2086944: 2086944
7SMARCA2NM_003070.4(SMARCA2): c.3485G> A (p.Arg1162His)single nucleotide variantPathogenicrs281875186GRCh37Chr 9, 2115850: 2115850
8SMARCA2NM_003070.4(SMARCA2): c.3476G> T (p.Arg1159Leu)single nucleotide variantPathogenicrs281875187GRCh37Chr 9, 2115841: 2115841
9SMARCA2NM_003070.4(SMARCA2): c.2648C> T (p.Pro883Leu)single nucleotide variantPathogenicrs281875188GRCh37Chr 9, 2086950: 2086950
10SMARCA2NM_003070.4(SMARCA2): c.3602C> T (p.Ala1201Val)single nucleotide variantPathogenicrs281875189GRCh37Chr 9, 2115967: 2115967
11SMARCA2NM_003070.4(SMARCA2): c.2815C> T (p.His939Tyr)single nucleotide variantPathogenicrs281875190GRCh37Chr 9, 2088545: 2088545
12SMARCA2NM_003070.4(SMARCA2): c.2255G> C (p.Gly752Ala)single nucleotide variantPathogenicrs281875198GRCh37Chr 9, 2081902: 2081902
13SMARCA2SMARCA2, 55-KB DELdeletionPathogenic
14SMARCA2NM_003070.4(SMARCA2): c.3395G> A (p.Gly1132Asp)single nucleotide variantPathogenicrs387907194GRCh37Chr 9, 2110356: 2110356

Expression for genes affiliated with Nicolaides Baraitser Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nicolaides Baraitser Syndrome

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Pathways for genes affiliated with Nicolaides Baraitser Syndrome

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51PathCards, 61Thomson Reuters
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Pathways related to Nicolaides Baraitser Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development Ligand dependent activation of the ESR1 AP 1 pathway61
9.1ARID1B, SMARCA2

Compounds for genes affiliated with Nicolaides Baraitser Syndrome

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GO Terms for genes affiliated with Nicolaides Baraitser Syndrome

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17Gene Ontology
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Cellular components related to Nicolaides Baraitser Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057309.1ARID1B, SMARCA2
2SWI/SNF complexGO:0165148.8ARID1B, SMARCA2

Biological processes related to Nicolaides Baraitser Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nervous system developmentGO:0073999.1ARID1B, SMARCA2

Molecular functions related to Nicolaides Baraitser Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription coactivator activityGO:0037139.1ARID1B, SMARCA2

Products for genes affiliated with Nicolaides Baraitser Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Nicolaides Baraitser Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet