BBIS
MCID: BLB005
MIFTS: 41

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 58 72 36 29 6 70
Microcephaly, Mental Retardation, and Distinctive Facies, with Cardiac and Genitourinary Malformations 57 72 13
Bbis 57 58 72
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome 58
Syndrome, Beaulieu-Boycott-Innes 39

Characteristics:

Orphanet epidemiological data:

58
thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
beaulieu-boycott-innes syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Beaulieu-Boycott-Innes Syndrome

KEGG : 36 Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate to severe intellectual disability, mild microcephaly, and non-life threatening congenital malformations including cardiac septal defects, structural renal anomalies, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis. THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export.

MalaCards based summary : Beaulieu-Boycott-Innes Syndrome, also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations, is related to thoc6 intellectual disability syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Beaulieu-Boycott-Innes Syndrome is THOC6 (THO Complex 6), and among its related pathways/superpathways is RNA transport. The drugs Gemcitabine and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related phenotypes are delayed speech and language development and abnormal facial shape

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 thoc6 intellectual disability syndrome 11.5
2 alacrima, achalasia, and mental retardation syndrome 10.7
3 dental caries 10.5
4 cleft palate, isolated 10.4
5 cryptorchidism, unilateral or bilateral 10.4
6 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.4
7 proteinuria, chronic benign 10.4
8 autosomal recessive disease 10.4
9 cerebellar hypoplasia 10.4
10 microcephaly 10.4
11 hydrocephalus 10.4
12 multiple epiphyseal dysplasia 10.4
13 hypogonadism 10.4
14 dysostosis 10.4

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:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
4 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
5 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
6 mild microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0040196
7 low hanging columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0009765
8 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
9 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
10 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
11 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
12 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
13 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
14 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
15 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
16 dysplastic corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0006989
17 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
18 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
19 premature ovarian insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008209
20 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
21 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
22 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
23 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
24 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
25 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
26 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
27 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
28 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
29 high anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0009890
30 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
31 thick upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000215
32 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
33 velopharyngeal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000220
34 perimembranous ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011682
35 overlapping toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001845
36 left-to-right shunt 58 31 occasional (7.5%) Occasional (29-5%) HP:0012382
37 muscular ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011623
38 thin lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010282
39 endometriosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030127
40 intellectual disability 31 HP:0001249
41 abnormality of the dentition 58 Very frequent (99-80%)
42 microcephaly 31 HP:0000252
43 myopia 31 HP:0000545
44 upslanted palpebral fissure 31 HP:0000582
45 ventricular septal defect 31 HP:0001629
46 blepharophimosis 31 HP:0000581
47 abnormality of the kidney 58 Occasional (29-5%)
48 abnormal heart morphology 58 Frequent (79-30%)
49 abnormality of the genitourinary system 58 Frequent (79-30%)
50 renal agenesis 31 HP:0000104

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
developmental delay
impaired intellectual development

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
horseshoe kidney
renal agenesis, unilateral

Head And Neck Nose:
choanal atresia
long nose
low-hanging columella

Head And Neck Face:
high anterior hairline
tall forehead

Respiratory Lung:
chronic lung disease

Head And Neck Ears:
hearing loss, sensorineural

Skeletal Spine:
multiple vertebral anomalies

Head And Neck Teeth:
dental malocclusion
caries

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

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

Cardiovascular Vascular:
patent ductus arteriosus

Endocrine Features:
hypergonadotropic hypogonadism

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 (Updated 20-May-2021)

Drugs & Therapeutics for Beaulieu-Boycott-Innes Syndrome

Drugs for Beaulieu-Boycott-Innes Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 3 95058-81-4 60750
2
Bevacizumab Approved, Investigational Phase 3 216974-75-3
3
Fluorouracil Approved Phase 3 51-21-8 3385
4
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
5
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
6
leucovorin Approved Phase 3 58-05-9 6006
7
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
9 Anticonvulsants Phase 3
10 Bromides Phase 3
11 Antiviral Agents Phase 3
12 Anti-Infective Agents Phase 3
13 Antineoplastic Agents, Immunological Phase 3
14 Angiogenesis Inhibitors Phase 3
15 Micronutrients Phase 3
16 topoisomerase I inhibitors Phase 3
17 Antidotes Phase 3
18 Trace Elements Phase 3
19 Cola Phase 3
20 Nutrients Phase 3
21 Folate Phase 3
22 Immunosuppressive Agents Phase 3
23 Vitamin B Complex Phase 3
24 Protective Agents Phase 3
25 Immunologic Factors Phase 3
26 Vitamin B9 Phase 3
27 Antimetabolites Phase 3
28 Vitamins Phase 3
29 Antimitotic Agents Phase 3
30 Albumin-Bound Paclitaxel Phase 3
31 Tubulin Modulators Phase 3
32
Ipilimumab Approved Phase 1, Phase 2 477202-00-9
33
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
34
Vinblastine Approved Phase 1, Phase 2 865-21-4 13342 241903
35
Aldesleukin Approved Phase 1, Phase 2 110942-02-4, 85898-30-2
36
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
37
nivolumab Approved Phase 2 946414-94-4
38 interferons Phase 1, Phase 2
39 Interleukin-2 Phase 1, Phase 2
40 Analgesics Phase 1, Phase 2
41 Analgesics, Non-Narcotic Phase 1, Phase 2
42 Pharmaceutical Solutions Phase 2
43
Phenylephrine Approved Phase 1 59-42-7 6041
44
Oxymetazoline Approved, Investigational Phase 1 1491-59-4 4636
45
Clobetasol Approved, Experimental, Investigational Phase 1 25122-46-7, 25122-41-2 32798 5311051

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Open-label, Phase 3 Long-term Safety Study of Topically Applied Sofpironium Bromide (BBI-4000) Gel, 5% and 15% in Subjects With Axillary Hyperhidrosis Completed NCT03627468 Phase 3 Sofpironium Bromide Gel, 5%;Sofpironium Bromide Gel, 15%
2 A Phase III Study of BBI-608 Plus Nab-Paclitaxel With Gemcitabine in Adult Patients With Metastatic Pancreatic Adenocarcinoma Completed NCT02993731 Phase 3 Napabucasin;Nab-paclitaxel;Gemcitabine
3 A Phase 3 Study of BBI-608 in Combination With 5-Fluorouracil, Leucovorin, Irinotecan (FOLFIRI) in Adult Patients With Previously Treated Metastatic Colorectal Cancer (CRC). Active, not recruiting NCT02753127 Phase 3 Napabucasin;Fluorouracil;Leucovorin;Irinotecan;Bevacizumab
4 A Phase III Randomized, Open-Label Clinical Trial of BBI-608 Plus Weekly Paclitaxel Versus Weekly Paclitaxel Alone in Patients With Advanced, Previously Treated, Non-Squamous Non-Small Cell Lung Cancer Terminated NCT02826161 Phase 3 Napabucasin;Paclitaxel
5 A Multi-Center, Open-Label Extension Study to Assess the Long-Term Safety, Tolerability and Pharmacokinetics of Sofpironium Bromide Gel, 15% Applied Topically to Children and Adolescents, ≥9 to <17 Years of Age, Previously Enrolled in BBI-4000-CL-105 Unknown status NCT03785587 Phase 2 Sofpironium Bromide Gel, 15%
6 A Multicenter, Randomized, Double Blind, Vehicle-Controlled Study to Evaluate the Safety and Effect on Sweat Production of 3 Concentrations of Topically Applied BBI-4000 in Subjects With Axillary Hyperhidrosis Completed NCT02336503 Phase 2 BBI-4000 Low Concentration;BBI-4000 Middle Concentration;BBI-4000 High Concentration;Placebo
7 A Phase I-II Study of Treatment of Metastatic Melanoma Using Induction Therapy With Biochemotherapy and Bevacizumab Followed by Consolidation Therapy With Ipilimumab (BBI) Completed NCT01743157 Phase 1, Phase 2 Biochemo + bevacizumab then ipilimumab
8 A Multicenter, Randomized, Double-Blinded, Vehicle-Controlled Study to Evaluate the Safety and Local Tolerability of Topically Applied BBI-4000 (Sofpironium Bromide) 15% Gel in Subjects With Palmar Hyperhidrosis Completed NCT02682238 Phase 2 BBI-4000, 15%
9 A Multicenter, Randomized, Double-Blinded, Vehicle-Controlled Study to Evaluate the Safety and Efficacy of 3 Concentrations of Topically Applied BBI-4000 (Sofpironium Bromide) Gel in Subjects With Axillary Hyperhidrosis Completed NCT03024255 Phase 2 BBI-4000 Concentration 1;BBI-4000 Concentration 2;BBI-4000 Concentration 3;Vehicle (Placebo)
10 Modulation Of The Tumour Microenvironment Using Either Vascular Disrupting Agents or STAT3 Inhibition in Order to Synergise With PD1 Inhibition in Microsatellite Stable, Refractory Colorectal Cancer Active, not recruiting NCT03647839 Phase 2 Nivolumab 10 MG/ML;BNC 105;BBI608
11 An Open-Label, Single-Dose, 4-Way Crossover, Bioavailability Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Food Effect of BBI-5000 Capsules in Healthy Adult Subjects Completed NCT02590289 Phase 1 BBI-5000
12 A Randomized, Controlled Study to Evaluate the Effect of Topically Applied BBI-2000 (5%) on Allergic Responses in Subjects With Contact Hypersensitivity to Diphencyprone Completed NCT03089775 Phase 1 BBI-2000;Vehicle
13 A Randomized, Double Blinded, Vehicle-Controlled Study to Evaluate the Safety and the Effect on Sweat Production of Topically Applied BBI-4000 in Subjects With Hyperhidrosis. Completed NCT02058264 Phase 1 BBI-4000
14 Validazione Italiana Dello Strumento BBI (Beaumont Behavioural Inventory) Per la Valutazione Delle Alterazioni Comportamentali Nel Paziente Affetto da Malattia Del Motoneurone Recruiting NCT04440644

Search 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:

40
Kidney, Eye, Brain, Smooth Muscle, Heart, Lung, Breast

Publications for Beaulieu-Boycott-Innes Syndrome

Articles related to Beaulieu-Boycott-Innes Syndrome:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. 6 57 61
30476144 2019
2
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. 57 6 61
30238602 2018
3
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. 6 57
27102954 2017
4
Confirming the candidacy of THOC6 in the etiology of intellectual disability. 6 57
26739162 2016
5
Intellectual disability associated with a homozygous missense mutation in THOC6. 6 57
23621916 2013
6
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. 61 6
31421288 2020
7
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. 61 6
27295358 2016
8
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. 57
20503307 2010
9
Extensive structural variation in the Bowman-Birk inhibitor family in common wheat (Triticum aestivum L.). 61
33765923 2021
10
Isolation and functional diversity of Bowman-Birk type serine proteinase inhibitors from Hyacinthus orientalis. 61
33666645 2021
11
Deciphering bacterial mechanisms of root colonization. 61
33538402 2021
12
Elucidation the binding mechanism of Nelumbo nucifera-derived isoquinoline alkaloids as Rho-kinase 1 inhibitors by molecular docking and dynamic simulation. 61
31918633 2021
13
Exploring the Role of Social Network Structure in Disease Risk among U.S. Long-haul Truck Drivers in Urban Areas. 61
33402247 2021
14
Frequency of Occupational Bloodborne Infections and Sharps Injuries among Polish Paramedics from Selected Ambulance Stations. 61
33374768 2020
15
Bowman-Birk Inhibitors: Insights into Family of Multifunctional Proteins and Peptides with Potential Therapeutical Applications. 61
33255583 2020
16
A fungal effector and a rice NLR protein have antagonistic effects on a Bowman-Birk trypsin inhibitor. 61
32415911 2020
17
Heart Rate Variability Analysis: How Much Artifact Can We Remove? 61
33017533 2020
18
Ballistocardiography Can Estimate Beat-to-Beat Heart Rate Accurately at Night in Patients After Vascular Intervention. 61
32011272 2020
19
Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report. 61
32655027 2020
20
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant. 61
32282736 2020
21
Analysis of alcohol policy in Nigeria: multi-sectoral action and the integration of the WHO "best-buy" interventions. 61
31234812 2019
22
Enhancer Domains in Gastrointestinal Stromal Tumor Regulate KIT Expression and Are Targetable by BET Bromodomain Inhibition. 61
30630822 2019
23
Safer tattooing interventions in prisons: a systematic review and call to action. 61
30111364 2018
24
Optimizing liposomes for delivery of Bowman-Birk protease inhibitors - Platforms for multiple biomedical applications. 61
29723819 2018
25
Biochemical properties of a bacterially-expressed Bowman-Birk inhibitor from Rhynchosia sublobata (Schumach.) Meikle seeds and its activity against gut proteases of Achaea janata. 61
29674106 2018
26
[Selected risk factors for occupational exposures to blood-borne pathogens in cosmetics salons]. 61
29569627 2018
27
Targetable BET proteins- and E2F1-dependent transcriptional program maintains the malignancy of glioblastoma. 61
29764999 2018
28
Bromodomain inhibition exerts its therapeutic potential in malignant pleural mesothelioma by promoting immunogenic cell death and changing the tumor immune-environment. 61
29399399 2018
29
Isolation and identification of a tribenzylisoquinoline alkaloid from Nelumbo nucifera Gaertn, a novel potential smooth muscle relaxant. 61
29108933 2018
30
Increasing Human Performance by Sharing Cognitive Load Using Brain-to-Brain Interface. 61
30631262 2018
31
The mixed-ligand strategy to assemble a microporous anionic metal-organic framework: Ln3+ post-functionalization, sensors and selective adsorption of dyes. 61
29048438 2017
32
[HBV, HCV, and HIV infection prevalence among prison staff in the light of occupational risk factors]. 61
28584337 2017
33
Flow artifact removal in carotid wall imaging based on black and gray-blood dual-contrast images subtraction. 61
27018428 2017
34
Evidence for Ancient Origins of Bowman-Birk Inhibitors from Selaginella moellendorffii. 61
28298518 2017
35
Effects of Disulfide Bond Reduction on the Conformation and Trypsin/Chymotrypsin Inhibitor Activity of Soybean Bowman-Birk Inhibitor. 61
28249116 2017
36
Predicting Flowering Behavior and Exploring Its Genetic Determinism in an Apple Multi-family Population Based on Statistical Indices and Simplified Phenotyping. 61
28638387 2017
37
Sugarcane Serine Peptidase Inhibitors, Serine Peptidases, and Clp Protease System Subunits Associated with Sugarcane Borer (Diatraea saccharalis) Herbivory and Wounding. 61
27598134 2016
38
Awareness of blood-borne infections and burden of occupational exposures to blood and body fluids among health care personnel in a tertiary care teaching hospital. 61
28446839 2016
39
Performance and image enhancing drug injectors' access to needle syringe programs: Responding to a public policy dilemma. 61
26118797 2015
40
A salt-bridge stabilized C-terminal hook is critical for the dimerization of a Bowman Birk inhibitor. 61
25527163 2015
41
Structural and functional characterization of proteinase inhibitors from seeds of Cajanus cajan (cv. ICP 7118). 61
25093261 2014
42
Characterization of wound-induced serine protease inhibitor (wip1) genes and proteins in Turkish maize varieties. 61
25365494 2014
43
Rate of seroconversion in repeat blood donors at the national blood centre, kuala lumpur. 61
24839364 2014
44
Assessment of injection practice in primary health care facilities of Shiraz, Iran. 61
24406260 2014
45
The contribution of two disulfide bonds in the trypsin binding domain of horsegram (Dolichos biflorus) Bowman-Birk inhibitor to thermal stability and functionality. 61
23791628 2013
46
Correlation approach for the detection of the heartbeat intervals using force sensors placed under the bed posts. 61
23795695 2013
47
Production of horsegram (Dolichos biflorus) Bowman-Birk inhibitor by an intein mediated protein purification system. 61
23422783 2013
48
Psychometric properties of a French version of a Dutch scale for assessing breast and body image (BBIS) in healthy women. 61
23680028 2013
49
Brown Kidney Bean Bowman-Birk Trypsin Inhibitor is Heat and pH Stable and Exhibits Anti-proliferative Activity. 61
23306898 2013
50
Cloning, characterization and differential expression of a Bowman-Birk inhibitor during progressive water deficit and subsequent recovery in peanut (Arachis hypogaea) leaves. 61
23084322 2013

Variations for Beaulieu-Boycott-Innes Syndrome

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

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THOC6 NM_024339.5(THOC6):c.577C>T (p.Arg193Ter) SNV Pathogenic 982264 GRCh37: 16:3076773-3076773
GRCh38: 16:3026772-3026772
2 THOC6 NM_024339.5(THOC6):c.793_794del (p.Thr265fs) Deletion Pathogenic 982265 GRCh37: 16:3077263-3077264
GRCh38: 16:3027262-3027263
3 THOC6 NM_024339.5(THOC6):c.748A>C (p.Thr250Pro) SNV Pathogenic 520613 rs1555498821 GRCh37: 16:3077219-3077219
GRCh38: 16:3027218-3027218
4 THOC6 NM_024339.5(THOC6):c.136G>A (p.Gly46Arg) SNV Pathogenic 64681 rs587777030 GRCh37: 16:3075805-3075805
GRCh38: 16:3025804-3025804
5 THOC6 NM_024339.5(THOC6):c.259C>T (p.Arg87Ter) SNV Pathogenic 520614 rs763344375 GRCh37: 16:3076102-3076102
GRCh38: 16:3026101-3026101
6 THOC6 NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) SNV Pathogenic 983559 rs138632121 GRCh37: 16:3076141-3076141
GRCh38: 16:3026140-3026140
7 THOC6 NM_024339.5(THOC6):c.445C>T (p.Gln149Ter) SNV Pathogenic 976677 GRCh37: 16:3076550-3076550
GRCh38: 16:3026549-3026549
8 THOC6 NM_024339.5(THOC6):c.611A>C (p.Gln204Pro) SNV Pathogenic 561206 rs1567416845 GRCh37: 16:3076892-3076892
GRCh38: 16:3026891-3026891
9 THOC6 NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) SNV Pathogenic/Likely pathogenic 561207 rs772533643 GRCh37: 16:3075804-3075804
GRCh38: 16:3025803-3025803
10 THOC6 NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) SNV Pathogenic/Likely pathogenic 521349 rs200426926 GRCh37: 16:3077380-3077380
GRCh38: 16:3027379-3027379
11 THOC6 NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) SNV Pathogenic/Likely pathogenic 521347 rs138632121 GRCh37: 16:3076141-3076141
GRCh38: 16:3026140-3026140
12 THOC6 NM_024339.5(THOC6):c.139C>T (p.Gln47Ter) SNV Likely pathogenic 633695 rs578012528 GRCh37: 16:3075808-3075808
GRCh38: 16:3025807-3025807
13 THOC6 NM_024339.5(THOC6):c.299G>A (p.Trp100Ter) SNV Likely pathogenic 633694 rs1567415595 GRCh37: 16:3076142-3076142
GRCh38: 16:3026141-3026141
14 THOC6 NM_024339.5(THOC6):c.837C>A (p.Cys279Ter) SNV Likely pathogenic 828106 rs146682486 GRCh37: 16:3077393-3077393
GRCh38: 16:3027392-3027392
15 THOC6 NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) SNV Conflicting interpretations of pathogenicity 561208 rs199795381 GRCh37: 16:3076765-3076765
GRCh38: 16:3026764-3026764
16 THOC6 NM_024339.5(THOC6):c.700G>C (p.Val234Leu) SNV Conflicting interpretations of pathogenicity 521348 rs150940923 GRCh37: 16:3077171-3077171
GRCh38: 16:3027170-3027170
17 THOC6 NM_024339.5(THOC6):c.324G>C (p.Lys108Asn) SNV Uncertain significance 873450 GRCh37: 16:3076167-3076167
GRCh38: 16:3026166-3026166
18 THOC6 NM_024339.5(THOC6):c.537G>T (p.Arg179Ser) SNV Uncertain significance 1034041 GRCh37: 16:3076733-3076733
GRCh38: 16:3026732-3026732
19 THOC6 NM_024339.5(THOC6):c.496G>A (p.Gly166Ser) SNV Uncertain significance 1034040 GRCh37: 16:3076692-3076692
GRCh38: 16:3026691-3026691
20 THOC6 NM_024339.5(THOC6):c.484-13C>T SNV Uncertain significance 1034039 GRCh37: 16:3076667-3076667
GRCh38: 16:3026666-3026666
21 THOC6 NM_024339.5(THOC6):c.482C>T (p.Thr161Met) SNV Uncertain significance 1034038 GRCh37: 16:3076587-3076587
GRCh38: 16:3026586-3026586
22 THOC6 NM_024339.5(THOC6):c.436G>A (p.Gly146Arg) SNV Uncertain significance 1034037 GRCh37: 16:3076541-3076541
GRCh38: 16:3026540-3026540
23 THOC6 NM_024339.5(THOC6):c.329G>A (p.Cys110Tyr) SNV Uncertain significance 1034036 GRCh37: 16:3076256-3076256
GRCh38: 16:3026255-3026255

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

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

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:

36
# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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