BBSOAS
MCID: BSC005
MIFTS: 33

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

MalaCards integrated aliases for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

Name: Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 58 60 76 30 6 41 74
Bbsoas 58 60 76
Optic Atrophy-Intellectual Disability Syndrome 60
Optic Atrophy, Autosomal Dominant 45

Characteristics:

Orphanet epidemiological data:

60
optic atrophy-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bosch-boonstra-schaaf optic atrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

OMIM : 58 Bosch-Boonstra-Schaaf optic atrophy syndrome is an autosomal dominant disorder characterized by delayed development, moderate intellectual disability, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014). (615722)

MalaCards based summary : Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, also known as bbsoas, is related to optic atrophy 1 and optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy. An important gene associated with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome is NR2F1 (Nuclear Receptor Subfamily 2 Group F Member 1), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Oct4 in Mammalian ESC Pluripotency. Affiliated tissues include eye, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 76 Bosch-Boonstra-Schaaf optic atrophy syndrome: An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.

Related Diseases for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Diseases related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 optic atrophy 1 11.5
2 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.3
3 harding ataxia 11.1
4 3-methylglutaconic aciduria, type iii 10.9
5 deafness, autosomal dominant 15 9.7 NR2F1 NR2F2
6 diaphragm disease 9.6 NR2F1 NR2F2
7 diaphragmatic hernia, congenital 9.5 NR2F1 NR2F2

Graphical network of the top 20 diseases related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:



Diseases related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Symptoms & Phenotypes for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Human phenotypes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 optic atrophy 33 HP:0000648
5 strabismus 33 HP:0000486
6 reduced visual acuity 33 HP:0007663
7 visual field defect 33 HP:0001123
8 optic disc pallor 33 HP:0000543
9 tapered finger 33 HP:0001182
10 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
decreased visual acuity
pale optic discs
visual field defects
more
Skeletal Hands:
tapering fingers

Head And Neck Face:
dysmorphic features, variable, nonspecific

Neurologic Central Nervous System:
intellectual disability
delayed development

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM:

615722

GenomeRNAi Phenotypes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.62 NR2F1 NR2F2

MGI Mouse Phenotypes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 NR2F1 NR2F2

Drugs & Therapeutics for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Search Clinical Trials , NIH Clinical Center for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Cochrane evidence based reviews: optic atrophy, autosomal dominant

Genetic Tests for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Genetic tests related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

# Genetic test Affiliating Genes
1 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 30 NR2F1

Anatomical Context for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

MalaCards organs/tissues related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

42
Eye

Publications for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Articles related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

# Title Authors Year
1
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. ( 29410510 )
2018
2
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. ( 28777376 )
2017
3
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. ( 28963436 )
2017
4
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. ( 26986877 )
2016

Variations for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 NR2F1 p.Arg112Lys VAR_071319 rs587777277
2 NR2F1 p.Ser113Arg VAR_071320 rs587777275
3 NR2F1 p.Arg115Pro VAR_071321 rs587777274
4 NR2F1 p.Leu252Pro VAR_071322 rs587777276

ClinVar genetic disease variations for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2F1 NM_005654.5(NR2F1): c.382T> C (p.Cys128Arg) single nucleotide variant Likely pathogenic rs863224903 GRCh38 Chromosome 5, 93585405: 93585405
2 NR2F1 NM_005654.5(NR2F1): c.382T> C (p.Cys128Arg) single nucleotide variant Likely pathogenic rs863224903 GRCh37 Chromosome 5, 92921111: 92921111
3 NR2F1 NC_000005.9: g.92845157_93679748del834592 deletion Likely pathogenic GRCh37 Chromosome 5, 92845157: 93679748
4 NR2F1 NC_000005.9: g.91064110_93896378del2832269 deletion Likely pathogenic GRCh37 Chromosome 5, 91064110: 93896378
5 NR2F1 NM_005654.5(NR2F1): c.344G> C (p.Arg115Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587777274 GRCh38 Chromosome 5, 93585367: 93585367
6 NR2F1 NM_005654.5(NR2F1): c.344G> C (p.Arg115Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587777274 GRCh37 Chromosome 5, 92921073: 92921073
7 NR2F1 NM_005654.5(NR2F1): c.339C> A (p.Ser113Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777275 GRCh38 Chromosome 5, 93585362: 93585362
8 NR2F1 NM_005654.5(NR2F1): c.339C> A (p.Ser113Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777275 GRCh37 Chromosome 5, 92921068: 92921068
9 NR2F1 NM_005654.5(NR2F1): c.755T> C (p.Leu252Pro) single nucleotide variant Likely pathogenic rs587777276 GRCh38 Chromosome 5, 93588208: 93588208
10 NR2F1 NM_005654.5(NR2F1): c.755T> C (p.Leu252Pro) single nucleotide variant Likely pathogenic rs587777276 GRCh37 Chromosome 5, 92923914: 92923914
11 NR2F1 NM_005654.5(NR2F1): c.335G> A (p.Arg112Lys) single nucleotide variant Likely pathogenic rs587777277 GRCh38 Chromosome 5, 93585358: 93585358
12 NR2F1 NM_005654.5(NR2F1): c.335G> A (p.Arg112Lys) single nucleotide variant Likely pathogenic rs587777277 GRCh37 Chromosome 5, 92921064: 92921064
13 NR2F1 NM_005654.5(NR2F1): c.413G> A (p.Cys138Tyr) single nucleotide variant Pathogenic rs1057519434 GRCh38 Chromosome 5, 93585436: 93585436
14 NR2F1 NM_005654.5(NR2F1): c.413G> A (p.Cys138Tyr) single nucleotide variant Pathogenic rs1057519434 GRCh37 Chromosome 5, 92921142: 92921142
15 NR2F1 NM_005654.5(NR2F1): c.1217T> C (p.Met406Thr) single nucleotide variant Uncertain significance rs1060499589 GRCh38 Chromosome 5, 93593787: 93593787
16 NR2F1 NM_005654.5(NR2F1): c.1217T> C (p.Met406Thr) single nucleotide variant Uncertain significance rs1060499589 GRCh37 Chromosome 5, 92929493: 92929493
17 NR2F1 NM_005654.5(NR2F1): c.257G> T (p.Cys86Phe) single nucleotide variant Uncertain significance rs1554074665 GRCh37 Chromosome 5, 92920986: 92920986
18 NR2F1 NM_005654.5(NR2F1): c.257G> T (p.Cys86Phe) single nucleotide variant Uncertain significance rs1554074665 GRCh38 Chromosome 5, 93585280: 93585280
19 NR2F1 NM_005654.5(NR2F1): c.1115T> C (p.Leu372Pro) single nucleotide variant Likely pathogenic rs1554075105 GRCh38 Chromosome 5, 93593685: 93593685
20 NR2F1 NM_005654.5(NR2F1): c.1115T> C (p.Leu372Pro) single nucleotide variant Likely pathogenic rs1554075105 GRCh37 Chromosome 5, 92929391: 92929391
21 NR2F1 NM_005654.5(NR2F1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic/Likely pathogenic rs1554074684 GRCh37 Chromosome 5, 92921154: 92921154
22 NR2F1 NM_005654.5(NR2F1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic/Likely pathogenic rs1554074684 GRCh38 Chromosome 5, 93585448: 93585448
23 NR2F1 NM_005654.5(NR2F1): c.729_730delGCinsCT (p.Gln244Ter) indel Likely pathogenic rs1554074850 GRCh37 Chromosome 5, 92923888: 92923889
24 NR2F1 NM_005654.5(NR2F1): c.729_730delGCinsCT (p.Gln244Ter) indel Likely pathogenic rs1554074850 GRCh38 Chromosome 5, 93588182: 93588183
25 NR2F1 NM_005654.5(NR2F1): c.289C> G (p.His97Asp) single nucleotide variant Likely pathogenic rs1287146448 GRCh38 Chromosome 5, 93585312: 93585312
26 NR2F1 NM_005654.5(NR2F1): c.289C> G (p.His97Asp) single nucleotide variant Likely pathogenic rs1287146448 GRCh37 Chromosome 5, 92921018: 92921018
27 NR2F1 NM_005654.5(NR2F1): c.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic rs1022192010 GRCh38 Chromosome 5, 93585426: 93585426
28 NR2F1 NM_005654.5(NR2F1): c.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic rs1022192010 GRCh37 Chromosome 5, 92921132: 92921132

Expression for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Search GEO for disease gene expression data for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Pathways for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Pathways related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 NR2F1 NR2F2
2 9.85 NR2F1 NR2F2

GO Terms for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Biological processes related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.16 NR2F1 NR2F2
2 steroid hormone mediated signaling pathway GO:0043401 8.96 NR2F1 NR2F2
3 intracellular receptor signaling pathway GO:0030522 8.62 NR2F1 NR2F2

Molecular functions related to Bosch-Boonstra-Schaaf Optic Atrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.32 NR2F1 NR2F2
2 zinc ion binding GO:0008270 9.26 NR2F1 NR2F2
3 sequence-specific DNA binding GO:0043565 9.16 NR2F1 NR2F2
4 steroid hormone receptor activity GO:0003707 8.96 NR2F1 NR2F2
5 nuclear receptor activity GO:0004879 8.62 NR2F1 NR2F2

Sources for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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