BBIS
MCID: BLB005
MIFTS: 28

Beaulieu-Boycott-Innes Syndrome (BBIS)

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

Aliases & Classifications for Beaulieu-Boycott-Innes Syndrome

MalaCards integrated aliases for Beaulieu-Boycott-Innes Syndrome:

Name: Beaulieu-Boycott-Innes Syndrome 58 60 76 38 30 6 41 74
Microcephaly, Mental Retardation, and Distinctive Facies, with Cardiac and Genitourinary Malformations 58 76 13
Bbis 58 60 76
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two pairs of sisters described from two canadian dariusleut hutterite families (last curated september 2013)


HPO:

33
beaulieu-boycott-innes syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Beaulieu-Boycott-Innes Syndrome

OMIM : 58 Beaulieu-Boycott-Innes syndrome (BBIS) is an autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate to severe intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis, may also be present (summary by Beaulieu et al., 2013 and Amos et al., 2017). (613680)

MalaCards based summary : Beaulieu-Boycott-Innes Syndrome, also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations, is related to alacrima, achalasia, and mental retardation syndrome and hydroa vacciniforme. An important gene associated with Beaulieu-Boycott-Innes Syndrome is THOC6 (THO Complex 6), and among its related pathways/superpathways is RNA transport. Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and dental malocclusion

UniProtKB/Swiss-Prot : 76 Beaulieu-Boycott-Innes syndrome: An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur.

Related Diseases for Beaulieu-Boycott-Innes Syndrome

Diseases related to Beaulieu-Boycott-Innes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.6
2 hydroa vacciniforme 10.3
3 autoimmune disease 10.0
4 autoimmune disease 1 10.0
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
6 ulcerative colitis 10.0
7 colitis 10.0
8 distal trisomy 3p 10.0

Graphical network of the top 20 diseases related to Beaulieu-Boycott-Innes Syndrome:



Diseases related to Beaulieu-Boycott-Innes Syndrome

Symptoms & Phenotypes for Beaulieu-Boycott-Innes Syndrome

Human phenotypes related to Beaulieu-Boycott-Innes Syndrome:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 dental malocclusion 33 HP:0000689
3 global developmental delay 33 HP:0001263
4 carious teeth 33 HP:0000670
5 abnormal facial shape 33 HP:0001999
6 microcephaly 33 HP:0000252
7 patent ductus arteriosus 33 HP:0001643
8 horseshoe kidney 33 HP:0000085
9 myopia 33 HP:0000545
10 deeply set eye 33 HP:0000490
11 upslanted palpebral fissure 33 HP:0000582
12 recurrent urinary tract infections 33 HP:0000010
13 high forehead 33 HP:0000348
14 blepharophimosis 33 HP:0000581
15 long nose 33 HP:0003189
16 high anterior hairline 33 HP:0009890
17 renal agenesis 33 HP:0000104
18 short palpebral fissure 33 HP:0012745
19 endometriosis 33 HP:0030127
20 low hanging columella 33 HP:0009765

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
dental malocclusion
caries

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Eyes:
myopia
deep-set eyes
short palpebral fissures
upslanting palpebral fissures

Head And Neck Face:
high anterior hairline
tall forehead

Neurologic Central Nervous System:
developmental delay
mental retardation

Head And Neck Mouth:
thick vermilion of upper and lower lips

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
horseshoe kidney
renal agenesis, unilateral

Head And Neck Nose:
long nose
low-hanging columella

Genitourinary Internal Genitalia Female:
endometriosis
ovarian failure, premature

Genitourinary Bladder:
urinary tract infections, recurrent

Cardiovascular Heart:
ventricular septal defect, membranous or muscular

Clinical features from OMIM:

613680

GenomeRNAi Phenotypes related to Beaulieu-Boycott-Innes Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.62 HCFC1R1 THOC6

Drugs & Therapeutics for Beaulieu-Boycott-Innes Syndrome

Search Clinical Trials , NIH Clinical Center for Beaulieu-Boycott-Innes Syndrome

Genetic Tests for Beaulieu-Boycott-Innes Syndrome

Genetic tests related to Beaulieu-Boycott-Innes Syndrome:

# Genetic test Affiliating Genes
1 Beaulieu-Boycott-Innes Syndrome 30 THOC6

Anatomical Context for Beaulieu-Boycott-Innes Syndrome

MalaCards organs/tissues related to Beaulieu-Boycott-Innes Syndrome:

42
Eye, Kidney

Publications for Beaulieu-Boycott-Innes Syndrome

Articles related to Beaulieu-Boycott-Innes Syndrome:

# Title Authors Year
1
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. ( 30238602 )
2018
2
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. ( 27295358 )
2016

Variations for Beaulieu-Boycott-Innes Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Beaulieu-Boycott-Innes Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 THOC6 p.Gly46Arg VAR_069779 rs587777030

ClinVar genetic disease variations for Beaulieu-Boycott-Innes Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 THOC6 NM_024339.4(THOC6): c.136G> A (p.Gly46Arg) single nucleotide variant Pathogenic rs587777030 GRCh37 Chromosome 16, 3075805: 3075805
2 THOC6 NM_024339.4(THOC6): c.136G> A (p.Gly46Arg) single nucleotide variant Pathogenic rs587777030 GRCh38 Chromosome 16, 3025804: 3025804
3 THOC6 NM_024339.4(THOC6): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs763344375 GRCh38 Chromosome 16, 3026101: 3026101
4 THOC6 NM_024339.4(THOC6): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs763344375 GRCh37 Chromosome 16, 3076102: 3076102
5 THOC6 NM_024339.4(THOC6): c.748A> C (p.Thr250Pro) single nucleotide variant Uncertain significance rs1555498821 GRCh38 Chromosome 16, 3027218: 3027218
6 THOC6 NM_024339.4(THOC6): c.748A> C (p.Thr250Pro) single nucleotide variant Uncertain significance rs1555498821 GRCh37 Chromosome 16, 3077219: 3077219
7 THOC6 NM_024339.4(THOC6): c.611A> C (p.Gln204Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3076892: 3076892
8 THOC6 NM_024339.4(THOC6): c.611A> C (p.Gln204Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3026891: 3026891
9 THOC6 NM_024339.4(THOC6): c.135C> A (p.Tyr45Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3075804: 3075804
10 THOC6 NM_024339.4(THOC6): c.135C> A (p.Tyr45Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3025803: 3025803
11 THOC6 NM_024339.4(THOC6): c.569G> A (p.Gly190Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3026764: 3026764
12 THOC6 NM_024339.4(THOC6): c.569G> A (p.Gly190Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3076765: 3076765

Expression for Beaulieu-Boycott-Innes Syndrome

Search GEO for disease gene expression data for Beaulieu-Boycott-Innes Syndrome.

Pathways for Beaulieu-Boycott-Innes Syndrome

Pathways related to Beaulieu-Boycott-Innes Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 RNA transport hsa03013

GO Terms for Beaulieu-Boycott-Innes Syndrome

Sources for Beaulieu-Boycott-Innes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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