Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandFacies (D019066)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1206
Name:BEAULIEU-BOYCOTT-INNES SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D006330|MESH:D008607|MESH:D008831|MESH:D014564|MESH:D019066
TreeNumbers:C05.660.207.620/613680 |C10.500.507.400.500/613680 |C10.597.606.643/613680 |C12.706/613680 |C13.351.875/613680 |C14.240.400/613680 |C14.280.400/613680 |C16.131.240.400/613680 |C16.131.621.207.620/613680 |C16.131.666.507.400.500/613680 |C16.131.939/613680 |C23.550.2
Synonyms:BBIS |MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: 613680
MeSH: 613680
OMIM: 613680;

Genes: AF8T; THOC6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000581Blepharophimosis
4 HP:0000670Carious teeth
5 HP:0000490Deeply set eye
6 HP:0000689Dental malocclusion
7 HP:0030127Endometriosis
8 HP:0001263Global developmental delay
9 HP:0009890High anterior hairline
10 HP:0000348High forehead
11 HP:0000085Horseshoe kidney
12 HP:0001249Intellectual disability
13 HP:0003189Long nose
14 HP:0009765Low hanging columella
15 HP:0000252Microcephaly
16 HP:0000545Myopia
17 HP:0001643Patent ductus arteriosus
18 HP:0000010Recurrent urinary tract infections
19 HP:0012745Short palpebral fissure
20 HP:0000582Upslanted palpebral fissure
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_024339.3(THOC6):c.136G>A (p.Gly46Arg)79228THOC6Pathogenic587777030RCV000054832; NGene:100529147,MedGen:C3150939,OMIM:613680,ORPHA:3634441630758053075805NM_024339.3:c.136G>ANP_077315.2:p.Gly46ArgNC_000016.9:g.3075805G>AOMIM Allelic Variant:615403.0001C3150939 613680 Beaulieu-Boycott-Innes syndrome