MCID: DSB002
MIFTS: 42

Desbuquois Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Desbuquois Dysplasia

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Sources:
10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Desbuquois Dysplasia:

Name: Desbuquois Dysplasia 10 11 45 22 12 51
Desbuquois Syndrome 10 45 22 51 36 65
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 10 22
 
Dbqd 45 22
Micromelic Dwarfism, Narrow Chest, Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification 45

Characteristics:

Orphanet epidemiological data:

51
desbuquois dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal

Classifications:



External Ids:

Disease Ontology10 DOID:0060462
ICD1027 Q78.8
MeSH36 C535943
Orphanet51 1425
ICD10 via Orphanet28 Q78.8
MESH via Orphanet37 C535943
UMLS via Orphanet66 C0432242
UMLS65 C0432242

Summaries for Desbuquois Dysplasia

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NIH Rare Diseases:45 Desbuquois syndrome (dbqd) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. a variant form of dbqd, kim variant, has been described in 7 patients originating from korea and japan, and is characterized by short stature, joint and minor facial anomalies, together with significant hand anomalies with short bones in the hands, long fingers and advanced bone age. dbqd type 1 and kim variant are caused by mutations in the gene cant1.  some cases of dbqd type 2 are caused by mutations in the gene xylt1 but in other cases the cause is unknown. it is inherited in an autosomal recessive manner. type 1 can be associated with severe respiratory problems. treatment for the condition is geared towards the signs and symptoms present in each individual. last updated: 9/18/2015

MalaCards based summary: Desbuquois Dysplasia, also known as desbuquois syndrome, is related to desbuquois dysplasia 2 and desbuquois dysplasia 1, and has symptoms including anteverted nares, short neck and glaucoma. An important gene associated with Desbuquois Dysplasia is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways are dermatan sulfate biosynthesis and Diseases associated with O-glycosylation of proteins. Affiliated tissues include bone and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:10 An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

Related Diseases for Desbuquois Dysplasia

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Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 2 Desbuquois Dysplasia 1

Diseases related to Desbuquois Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1desbuquois dysplasia 212.7
2desbuquois dysplasia 112.6
3myopathy with extrapyramidal signs10.3CANT1, CHST3
4boomerang dysplasia10.3FLNB, SLC26A2
5gingival disease10.2SLC26A2, TRPV4
6nasopharyngeal carcinoma10.2
7focal dermal hypoplasia10.2
8atherosclerosis10.2
9cutaneous leishmaniasis10.2
10skin disease10.2
11fragile x-associated tremor/ataxia syndrome10.2
12nasopharyngitis10.2
13scleritis10.2
14polyneuropathy10.2
15poems syndrome10.2
16hidradenitis suppurativa10.2
17hidradenitis10.2
18corneal dystrophy10.2
19acinar cell carcinoma10.2
20aspiration pneumonitis10.2
21gastritis10.2
22lymphocytic gastritis10.2
23tick infestation10.2
24pancreatitis10.2
25leishmaniasis10.2
26ataxia10.2
27hypoxia10.2
28tremor10.2
29penis sarcoma10.2CHST3, SLC26A2
30atelosteogenesis ii10.1COMP, SLC26A2
31respiratory syncytial virus infectious disease10.0COMP, SLC26A2
32familial atrial fibrillation10.0COMP, FLNB, SLC26A2
33larsen syndrome10.0B4GALT7, CANT1, CHST3, FLNB
34ankylosis10.0COMP, FLNB, SLC26A2
35darier disease10.0COMP, SLC26A2
36slc16a1-related hyperinsulinism10.0COMP, SLC26A2, TRPV4
37residual stage corticosteroid-induced glaucoma9.9DCN, FLNB
38boutonneuse fever9.9BGN, DCN
39bone deterioration disease9.9COMP, SLC26A2
40smed strudwick type9.8COMP, FMOD, TRPV4
41stickler syndrome9.8COMP, FMOD, TRPV4
42skeleto cardiac syndrome with thrombocytopenia9.8COMP, FLNB, SLC26A2, TRPV4
43achondrogenesis, type ii or hypochondrogenesis9.8COMP, FMOD, TRPV4
44frontonasal dysplasia 39.6BGN, DCN, FMOD
45epiphyseal dysplasia, multiple, 49.6BGN, DCN, FLNB, SLC26A2
46epiphyseal dysplasia, multiple, 19.4COMP, DCN, FMOD, SLC26A2
47nut midline carcinoma7.1B4GALT7, BGN, CANT1, CHST3, COMP, DCN

Graphical network of the top 20 diseases related to Desbuquois Dysplasia:



Diseases related to desbuquois dysplasia

Symptoms for Desbuquois Dysplasia

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Symptoms:

 51 (show all 28)
  • proptosis/exophthalmos
  • glaucoma
  • depressed nasal bridge
  • anteverted nares/nostrils
  • short neck
  • flared chest/bell-shaped thorax/shield chest
  • absent/hypotonic/flaccid abdominal wall muscles
  • camptodactyly of some fingers
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • advanced bone age
  • metaphyseal anomaly
  • hyperextensible joints/articular hyperlaxity
  • patella dislocation
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • blue sclerae
  • long/thick/curved lashes/trichomegaly/polytrichia
  • low set ears/posteriorly rotated ears
  • scoliosis
  • radioulnar synostosis
  • small hand/acromicria
  • clinodactyly of fifth finger
  • genu recurvatum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • ventricular septal defect/interventricular communication
  • elbow dislocation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Desbuquois Dysplasia:

(show all 27)
id Description Frequency HPO Source Accession
1 anteverted nares hallmark (90%) HP:0000463
2 short neck hallmark (90%) HP:0000470
3 glaucoma hallmark (90%) HP:0000501
4 proptosis hallmark (90%) HP:0000520
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 joint hypermobility hallmark (90%) HP:0001382
7 abnormality of the femur hallmark (90%) HP:0002823
8 patellar dislocation hallmark (90%) HP:0002999
9 short stature hallmark (90%) HP:0004322
10 depressed nasal bridge hallmark (90%) HP:0005280
11 accelerated skeletal maturation hallmark (90%) HP:0005616
12 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
13 camptodactyly of finger hallmark (90%) HP:0100490
14 cognitive impairment hallmark (90%) HP:0100543
15 enlarged thorax hallmark (90%) HP:0100625
16 low-set, posteriorly rotated ears typical (50%) HP:0000368
17 abnormality of the eyelashes typical (50%) HP:0000499
18 blue sclerae typical (50%) HP:0000592
19 ventricular septal defect typical (50%) HP:0001629
20 scoliosis typical (50%) HP:0002650
21 genu recurvatum typical (50%) HP:0002816
22 radioulnar synostosis typical (50%) HP:0002974
23 elbow dislocation typical (50%) HP:0003042
24 abnormality of the hip bone typical (50%) HP:0003272
25 clinodactyly of the 5th finger typical (50%) HP:0004209
26 short palm typical (50%) HP:0004279
27 abnormal hair quantity typical (50%) HP:0011362

Drugs & Therapeutics for Desbuquois Dysplasia

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Drugs for Desbuquois Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AstragalusNutraceutical48

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Desbuquois Dysplasia


Cochrane evidence based reviews: desbuquois syndrome

Genetic Tests for Desbuquois Dysplasia

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Genetic tests related to Desbuquois Dysplasia:

id Genetic test Affiliating Genes
1 Desbuquois Dysplasia22 CANT1

Anatomical Context for Desbuquois Dysplasia

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MalaCards organs/tissues related to Desbuquois Dysplasia:

33
Bone, Lung

Animal Models for Desbuquois Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Desbuquois Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.0BGN, COMP, FLNB, FMOD, IMPAD1, SLC26A2
2MP:00053827.2BGN, DCN, FLNB, FMOD, IMPAD1, SLC26A2
3MP:00053906.7BGN, CHST3, COMP, DCN, FLNB, FMOD

Publications for Desbuquois Dysplasia

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Articles related to Desbuquois Dysplasia:

(show all 11)
idTitleAuthorsYear
1
Prognostic significance of pretreatment VEGF, survivin, and Smac/DIABLO serum levels in patients with serous ovarian carcinoma. (25577253)
2015
2
Uncoupling of ER-mitochondrial calcium communication by transforming growth factor-beta. (18653477)
2008
3
Human factor Xa bound amidine inhibitor conformation by double rotational-echo double resonance nuclear magnetic resonance and molecular dynamics simulations. (12540235)
2003
4
Discovery of a novel member of the histamine receptor family. (11179435)
2001
5
Managing the assessment of neonatal jaundice: importance of timing. (11105424)
2000
6
The influence of hormones of stress-promoting system on the course of acute ischemic stroke]. (10812666)
2000
7
Treatment of choledocholithiasis: therapeutic ERCP versus peroperative extraction during laparoscopic cholecystectomy. (11189996)
2000
8
Pneumococcal diversity: considerations for new vaccine strategies with emphasis on pneumococcal surface protein A (PspA). (9767061)
1998
9
Photoaffinity labeling of GDP-fucose:nLcOse4Cer alpha 1----3-fucosyltransferase from human small cell lung carcinoma NCI-H69 cells with the GDP-fucose analog GDP-hexanolaminyl-4-azidosalicylic acid. (2165495)
1990
10
Epithelioid sarcoma--a case report. (3720015)
1986
11
Acrodermatitis enteropathica. (6788857)
1981

Variations for Desbuquois Dysplasia

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Expression for genes affiliated with Desbuquois Dysplasia

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Search GEO for disease gene expression data for Desbuquois Dysplasia.

Pathways for genes affiliated with Desbuquois Dysplasia

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Pathways related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6B4GALT7, CHST3, XYLT1
2
Show member pathways
8.7BGN, DCN, FMOD
38.2BGN, COMP, DCN, FMOD
4
Show member pathways
8.2BGN, COMP, DCN, FMOD
57.9BGN, CHST3, COMP, DCN, FMOD
6
Show member pathways
7.8B4GALT7, BGN, CHST3, DCN, FMOD, XYLT1
7
Show member pathways
7.8B4GALT7, BGN, CHST3, DCN, FMOD, SLC26A2
8
Show member pathways
6.2B4GALT7, BGN, CHST3, DCN, FMOD, IMPAD1

GO Terms for genes affiliated with Desbuquois Dysplasia

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Biological processes related to Desbuquois Dysplasia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of JAK-STAT cascadeGO:00464269.7BGN, DCN
2dermatan sulfate biosynthetic processGO:00302089.7BGN, DCN
3chondroitin sulfate catabolic processGO:00302079.6BGN, DCN
4carbohydrate metabolic processGO:00059759.2CHST3, DCN, PGM3
5glycosaminoglycan metabolic processGO:00302038.8CHST3, DCN, FMOD
6chondroitin sulfate biosynthetic processGO:00302068.8BGN, CHST3, DCN, XYLT1
7chondroitin sulfate metabolic processGO:00302048.5B4GALT7, BGN, DCN, IMPAD1

Sources for Desbuquois Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet