Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   desbuquois syndrome
  

Disease ID 1093
Disease desbuquois syndrome
Definition
A rare osteochondrodysplasia characterized by short stature, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. Two forms have been identified: type 1 caused by mutation in the gene CANT1 and type 2 caused by mutations in the gene XYLT1.
Synonym
dbqd
desbuquois dysplasia
desbuquois syndrome (disorder)
micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Orphanet
OMIM
DOID
UMLS
C0432242
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
124583  |  CANT1  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
64131  |  XYLT1  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:8)
633  |  BGN  |  2.268  |  DISEASES
9469  |  CHST3  |  4.889  |  DISEASES
2317  |  FLNB  |  3.94  |  DISEASES
2331  |  FMOD  |  3.892  |  DISEASES
3486  |  IGFBP3  |  1.145  |  DISEASES
51520  |  LARS  |  2.076  |  DISEASES
3980  |  LIG3  |  2.418  |  DISEASES
5238  |  PGM3  |  4.278  |  DISEASES
Locus
Symbol | Locus(Total Locus:2)
XYLT1  |  16p12.3
CANT1  |  17q25.3
Disease ID 1093
Disease desbuquois syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:29)
HP:0008873  |  Disproportionate short-limb short stature
HP:0000470  |  Short neck
HP:0000520  |  Proptosis
HP:0003366  |  Abnormality of the femoral neck or head region
HP:0001006  |  Hypotrichosis
HP:0001629  |  Ventricular septal defect
HP:0000592  |  Blue sclerae
HP:0005280  |  Depressed nasal bridge
HP:0002999  |  Patellar dislocation
HP:0005692  |  Joint hyperflexibility
HP:0010318  |  Aplasia/Hypoplasia of the abdominal wall musculature
HP:0002816  |  Genu recurvatum
HP:0002650  |  Scoliosis
HP:0003042  |  Elbow dislocation
HP:0004209  |  Clinodactyly of the 5th finger
HP:0200055  |  Small hand
HP:0005616  |  Accelerated skeletal maturation
HP:0001249  |  Intellectual disability
HP:0002974  |  Radioulnar synostosis
HP:0002812  |  Coxa vara
HP:0001591  |  Bell-shaped thorax
HP:0003510  |  Severe short stature
HP:0000463  |  Anteverted nares
HP:0000499  |  Abnormality of the eyelashes
HP:0000368  |  Low-set, posteriorly rotated ears
HP:0100490  |  Camptodactyly of finger
HP:0000501  |  Glaucoma
HP:0000944  |  Abnormality of the metaphyses
HP:0002673  |  Coxa valga
Text Mined Phenotype(Waiting for update.)
Disease ID 1093
Disease desbuquois syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:16)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs150181226NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778995182AG
rs267606699NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778993857CT
rs267606700NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778993860GA
rs267606701NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778993858GA
rs267606702NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778997249CT
rs377546036NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778995177CT
rs387907081NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT1;LOC1053719151778993677GT
rs538543007NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778993929CT
rs587776509NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778995119G-
rs587776510NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778993846-GCGGC
rs587776895NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778993854-GGCGC
rs587776896NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778997395-G
rs587776897NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778997345AG-
rs587776898NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778997248CG
rs587776951NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11779009663CT
rs767601069NA124583CANT1umls:C0432242CLINVARNA0.362171535NACANT11778997345A-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:12)
HP ID HP Name MP ID MP Name Annotation
HP:0100490Camptodactyly of fingerMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000470Short neckMP:0012720elongated neckincreased length of the neck
HP:0004209Clinodactyly of the 5th fingerMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0005616Accelerated skeletal maturationMP:0003378early sexual maturationpubertal changes occur at an earlier than normal age
HP:0003510Severe short statureMP:0004355short radiusreduced length of the short bone of the lateral forearm
HP:0000944Abnormality of the metaphysesMP:0013621decreased internal diameter of femurreduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001629Ventricular septal defectMP:0011667double outlet right ventricle with atrioventricular septal defecta form of DORV in which there is also a complete atrioventricular canal
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculatureMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0005280Depressed nasal bridgeMP:0013582abnormal lateral nasal gland morphologyany structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d
HP:0008873Disproportionate short-limb short statureMP:0004672short ribsreduced length of the bones forming the bony wall of the chest
HP:0002974Radioulnar synostosisMP:0000566synostosisosseous union of two bones that are not normally connected
HP:0000499Abnormality of the eyelashesMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
Mapped by homologous gene(Total Items:28)
HP ID HP Name MP ID MP Name Annotation
HP:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002974Radioulnar synostosisMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0200055Small handMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001006HypotrichosisMP:0014082decreased small intestinal villus heightdecreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy
HP:0005616Accelerated skeletal maturationMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000463Anteverted naresMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0008873Disproportionate short-limb short statureMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000592Blue scleraeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002673Coxa valgaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001629Ventricular septal defectMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000501GlaucomaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0005280Depressed nasal bridgeMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003042Elbow dislocationMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001591Bell-shaped thoraxMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0100490Camptodactyly of fingerMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002816Genu recurvatumMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000520ProptosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000470Short neckMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002812Coxa varaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0003510Severe short statureMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculatureMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0000944Abnormality of the metaphysesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000368Low-set, posteriorly rotated earsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004209Clinodactyly of the 5th fingerMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0005692Joint hyperflexibilityMP:0012125decreased bronchoconstrictive responsereduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
HP:0000499Abnormality of the eyelashesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002999Patellar dislocationMP:0013743ciliary body hypoplasiaunderdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
Disease ID 1093
Disease desbuquois syndrome
Case(Waiting for update.)