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 57 59 75 29 6 40 73
Microcephaly, Mental Retardation, and Distinctive Facies, with Cardiac and Genitourinary Malformations 57 75 13
Bbis 57 59 75
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
beaulieu-boycott-innes syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Beaulieu-Boycott-Innes Syndrome

OMIM : 57 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). Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and dental malocclusion

UniProtKB/Swiss-Prot : 75 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 ulcerative colitis 10.1
4 colitis 10.1

Symptoms & Phenotypes for Beaulieu-Boycott-Innes Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Genitourinary Internal Genitalia Female:
endometriosis
ovarian failure, premature

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

Neurologic Central Nervous System:
developmental delay
mental retardation

Genitourinary Bladder:
urinary tract infections, recurrent

Cardiovascular Heart:
ventricular septal defect, membranous or muscular


Clinical features from OMIM:

613680

Human phenotypes related to Beaulieu-Boycott-Innes Syndrome:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 dental malocclusion 32 HP:0000689
3 global developmental delay 32 HP:0001263
4 carious teeth 32 HP:0000670
5 abnormal facial shape 32 HP:0001999
6 microcephaly 32 HP:0000252
7 patent ductus arteriosus 32 HP:0001643
8 horseshoe kidney 32 HP:0000085
9 myopia 32 HP:0000545
10 deeply set eye 32 HP:0000490
11 upslanted palpebral fissure 32 HP:0000582
12 recurrent urinary tract infections 32 HP:0000010
13 high forehead 32 HP:0000348
14 blepharophimosis 32 HP:0000581
15 long nose 32 HP:0003189
16 high anterior hairline 32 HP:0009890
17 renal agenesis 32 HP:0000104
18 short palpebral fissure 32 HP:0012745
19 low hanging columella 32 HP:0009765
20 endometriosis 32 HP:0030127

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

26
# 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 29 THOC6

Anatomical Context for Beaulieu-Boycott-Innes Syndrome

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

41
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:

75
# 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 GRCh38 Chromosome 16, 3027218: 3027218
6 THOC6 NM_024339.4(THOC6): c.748A> C (p.Thr250Pro) single nucleotide variant Uncertain significance 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 rs772533643 GRCh37 Chromosome 16, 3075804: 3075804
10 THOC6 NM_024339.4(THOC6): c.135C> A (p.Tyr45Ter) single nucleotide variant Pathogenic rs772533643 GRCh38 Chromosome 16, 3025803: 3025803
11 THOC6 NM_024339.4(THOC6): c.569G> A (p.Gly190Glu) single nucleotide variant Pathogenic rs199795381 GRCh38 Chromosome 16, 3026764: 3026764
12 THOC6 NM_024339.4(THOC6): c.569G> A (p.Gly190Glu) single nucleotide variant Pathogenic rs199795381 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

GO Terms for Beaulieu-Boycott-Innes Syndrome

Sources for Beaulieu-Boycott-Innes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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