MCID: NCL003
MIFTS: 38

Nicolaides Baraitser Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories
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Summaries for Nicolaides Baraitser Syndrome

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MalaCards based summary: Nicolaides Baraitser Syndrome, also known as nicolaides-baraitser syndrome, is related to mental retardation and autism spectrum disorder, and has symptoms including microcephaly, triangular face and anteverted nares/nostrils. 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:46 601358

Aliases & Classifications for Nicolaides Baraitser Syndrome

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Nicolaides Baraitser Syndrome, Aliases & Descriptions:

Name: Nicolaides Baraitser Syndrome 42 20 22 62
Nicolaides-Baraitser Syndrome 46 48
 
Intellectual Disability - Sparse Hair - Brachydactyly 48
Sparse Hair and Mental Retardation 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
nicolaides-baraitser syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 601358

Related Diseases for Nicolaides Baraitser Syndrome

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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 disorder10.4
3hypotrichosis10.4
4lipodystrophy10.4
5short stature10.4

Graphical network of diseases related to Nicolaides Baraitser Syndrome:



Diseases related to nicolaides baraitser syndrome

Symptoms for Nicolaides Baraitser Syndrome

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Symptoms by clinical synopsis from OMIM:

601358

Clinical features from OMIM:

601358

Symptoms:

48 (show all 37)
  • microcephaly
  • triangular face
  • anteverted nares/nostrils
  • flared/thick ala nasi
  • macrostomia/big mouth
  • thin/retracted lips
  • everted lower lip
  • long philtrum
  • philtrum flat/large/featureless/absent cupidon bows
  • high vaulted/narrow palate
  • short hand/brachydactyly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • joint/articular deformation
  • high arched eyebrows
  • blepharophimosis/short palpebral fissures
  • long/thick/curved lashes/trichomegaly/polytrichia
  • narrow nasal bridge
  • abnormally placed nipples
  • scoliosis
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers broadened/deviated
  • terminal broadening/clubbing of toes
  • wide space between 1st-2nd toes
  • rippled skin
  • eczema
  • abnormal implantation of hair
  • 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

HPO human phenotypes related to Nicolaides Baraitser Syndrome:

(show all 64)
id Description Frequency HPO Source Accession
1 wide mouth hallmark (90%) HP:0000154
2 abnormality of the palate hallmark (90%) HP:0000174
3 everted lower lip vermilion hallmark (90%) HP:0000232
4 thin vermilion border hallmark (90%) HP:0000233
5 microcephaly hallmark (90%) HP:0000252
6 triangular face hallmark (90%) HP:0000325
7 long philtrum hallmark (90%) HP:0000343
8 anteverted nares hallmark (90%) HP:0000463
9 brachydactyly syndrome hallmark (90%) HP:0001156
10 abnormal joint morphology hallmark (90%) HP:0001367
11 neurological speech impairment hallmark (90%) HP:0002167
12 abnormal hair quantity hallmark (90%) HP:0011362
13 cognitive impairment hallmark (90%) HP:0100543
14 cryptorchidism typical (50%) HP:0000028
15 narrow nasal bridge typical (50%) HP:0000446
16 abnormality of the eyelashes typical (50%) HP:0000499
17 blepharophimosis typical (50%) HP:0000581
18 eczema typical (50%) HP:0000964
19 abnormality of the metacarpal bones typical (50%) HP:0001163
20 seizures typical (50%) HP:0001250
21 sandal gap typical (50%) HP:0001852
22 highly arched eyebrow typical (50%) HP:0002553
23 scoliosis typical (50%) HP:0002650
24 short stature typical (50%) HP:0004322
25 abnormality of the nipple typical (50%) HP:0004404
26 abnormality of the distal phalanx of finger typical (50%) HP:0009832
27 clubbing of toes typical (50%) HP:0100760
28 short stature 13% HP:0004322
29 narrow nasal bridge 12% HP:0000446
30 widely spaced teeth 11% HP:0000687
31 scoliosis 9% HP:0002650
32 unilateral narrow palpebral fissure 9% HP:0007946
33 eczema 8% HP:0000964
34 downslanted palpebral fissures occasional (7.5%) HP:0000494
35 malformation of the heart and great vessels occasional (7.5%) HP:0002564
36 delayed skeletal maturation occasional (7.5%) HP:0002750
37 accelerated skeletal maturation occasional (7.5%) HP:0005616
38 abnormality of the epiphyses occasional (7.5%) HP:0005930
39 hernia occasional (7.5%) HP:0100790
40 downslanted palpebral fissures 6% HP:0000494
41 cryptorchidism HP:0000028
42 wide mouth HP:0000154
43 thick lower lip vermilion HP:0000179
44 everted lower lip vermilion HP:0000232
45 microcephaly HP:0000252
46 broad philtrum HP:0000289
47 low anterior hairline HP:0000294
48 triangular face HP:0000325
49 long philtrum HP:0000343
50 anteverted nares HP:0000463
51 aggressive behavior HP:0000718
52 brachydactyly syndrome HP:0001156
53 seizures HP:0001250
54 failure to thrive HP:0001508
55 intrauterine growth retardation HP:0001511
56 sandal gap HP:0001852
57 sparse scalp hair HP:0002209
58 poor speech HP:0002465
59 prominent interphalangeal joints HP:0006237
60 short phalanx of finger HP:0009803
61 short metacarpal HP:0010049
62 short metatarsal HP:0010743
63 intellectual disability, severe HP:0010864
64 wide nasal base HP:0012810

Drugs & Therapeutics for Nicolaides Baraitser Syndrome

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Drug clinical trials:

Search ClinicalTrials for Nicolaides Baraitser Syndrome

Search NIH Clinical Center for Nicolaides Baraitser Syndrome

Genetic Tests for Nicolaides Baraitser Syndrome

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Genetic tests related to Nicolaides Baraitser Syndrome:

id Genetic test Affiliating Genes
1 Nicolaides-Baraitser Syndrome20 22 SMARCA2

Anatomical Context for Nicolaides Baraitser Syndrome

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MalaCards organs/tissues related to Nicolaides Baraitser Syndrome:

32
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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Articles related to Nicolaides Baraitser Syndrome:

idTitleAuthorsYear
1
Phenotype and genotype in Nicolaides-Baraitser syndrome. (25169058)
2014
2
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (22366787)
2012
3
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. (22822383)
2012
4
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. (20802310)
2011
5
Nicolaides-Baraitser syndrome: Delineation of the phenotype. (19606471)
2009
6
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. (19119135)
2008
7
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? (12872821)
2003
8
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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UniProtKB/Swiss-Prot genetic disease variations for Nicolaides Baraitser Syndrome:

64 (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:

6 (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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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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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 pathway60
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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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
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Sources for Nicolaides Baraitser Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet