MCID: DYS018
MIFTS: 49

Dysostosis malady

Summaries for Dysostosis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 A dysostosis is a disorder of the development of bone, in particular affecting ossification. more...

MalaCards: Dysostosis, also known as dysostoses, is related to spondylocostal dysostosis and spondylocostal dysostosis 1. An important gene associated with Dysostosis is DLL3 (delta-like 3 (Drosophila)), and among its related pathways are Pre-NOTCH Processing in Golgi and Other types of O-glycan biosynthesis. The compounds heparan sulfate and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:8 A bone development disease that results in defective ossification of located in bone.

Aliases & Classifications for Dysostosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

dysostosis 8 10 44
dysostoses 60


External Ids:

Disease Ontology8 DOID:1934
MeSH34 D004413
SNOMED-CT56 109420003
NCIt39 C34560

Related Diseases for Dysostosis

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17GeneCards, 18GeneDecks
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Diseases related to Dysostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 240)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis31.1HES7, DLL3, POFUT1, TBX6, MESP2, LFNG
2spondylocostal dysostosis 130.3LFNG, DLL3, MESP2, HES7
3ellis-van creveld syndrome30.0EVC, EVC2
4dwarfism29.9FGFR2
5polydactyly29.8FGFR2, EVC2, EVC
6choanal atresia29.6EFTUD2
7treacher collins syndrome10.5
8nager acrofacial dysostosis10.5
9weyers acrofacial dysostosis10.4
10crouzon syndrome10.4
11acrofrontofacionasal dysostosis syndrome10.4
12spondylocostal dysostosis, autosomal recessive10.3
13acrofacial dysostosis palagonia type10.3
14craniofacial dysostosis with diaphyseal hyperplasia10.3
15genee-wiedemann syndrome10.3
16cleidocranial dysplasia10.2
17acrofacial dysostosis catania type10.2
18acrofacial dysostosis rodriguez type10.2
19cleft palate10.2
20oculomaxillofacial dysostosis10.2
21spondyloepiphyseal dysplasia with congenital joint dislocations10.2
22hypomandibular faciocranial dysostosis10.2
23spondylocostal dysostosis 210.2
24mandibulofacial dysostosis, guion-almeida type10.2
25acrodysostosis10.2
26microcephaly10.2
27x-linked mandibulofacial dysostosis10.2
28acromelic frontonasal dysostosis10.1
29spinal dysostosis type anhalt10.1
30frontofacionasal dysplasia10.1
31treacher collins syndrome 310.1
32metaphyseal dysostosis mental retardation conductive deafness10.1
33spondylospinal thoracic dysostosis10.1
34binder syndrome10.1
35goldenhar syndrome10.1
36syndactyly10.1
37cleft lip10.1
38naguib-richieri-costa syndrome10.1
39spondylocostal dysostosis 410.1
40craniofacial dysostosis arthrogryposis progeroid appearence10.1
41dysostosis peripheral10.1
42growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.1
43maxillofacial dysostosis10.1
44thoracopelvic dysostosis10.1
45spondylocostal dysostosis, autosomal dominant10.1
46spondylocostal dysostosis - anal and genitourinary malformations10.1
47fucosidosis10.0
48coloboma10.0
49usher syndrome10.0
50pycnodysostosis10.0

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to dysostosis

Clinical Features for Dysostosis

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Drugs & Therapeutics for Dysostosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dysostosis

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Anatomical Context for Dysostosis

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Dysostosis:

32
Bone, Eye, Heart, Kidney, Thyroid, Skin, Testes

FMA organs/tissues related to Dysostosis:

14
Bone

Animal Models for Dysostosis or affiliated genes

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36MGI
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Publications for Dysostosis

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50PubMed
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Articles related to Dysostosis:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation. (22565932)
2012
2
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. (21271648)
2011
3
Child with Mongolian spots and dysostosis multiplex. (20407650)
2009
4
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. (19334086)
2009
5
Cementum analysis in cleidocranial dysostosis. (18797104)
2008
6
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? (16957470)
2006
7
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. (16619382)
2006
8
Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany. (16096996)
2005
9
A familial case of cleidocranial dysostosis presenting upper limb ischemia. (16444391)
2005
10
Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis. (12210581)
2002
11
Treacher Collins syndrome (mandibulofacial dysostosis). (12438872)
2002
12
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafAc-au-lait spots: new acrocraniofacial dysostosis syndrome? (11424146)
2001
13
New methods for the evaluation and treatment of craniofacial dysostosis-associated cerebellar tonsillar herniation. (11743368)
2001
14
Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? (11310989)
2001
15
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (10742114)
2000
16
Case report: a surgical and prosthetic approach to combination syndrome presenting in a patient with craniofacial dysostosis (Crouzon syndrome). (9680879)
1998
17
Cleidocranial dysostosis--a case report and review of the literature. (9694015)
1998
18
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. (9098488)
1997
19
A new observation of two cases of acrofacial dysostosis type GenAce-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs. (8870922)
1996
20
US case of the day. Mandibulofacial dysostosis (MFD). (8946555)
1996
21
The detection and management of intracranial hypertension after initial suture release and decompression for craniofacial dysostosis syndromes. (7596500)
1995
22
Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses. (7625437)
1995
23
Familial postaxial acrofacial dysostosis syndrome. (1433242)
1992
24
Severe postaxial acrofacial dysostosis: an anatomic and angiographic study. (2333876)
1990
25
Craniofrontonasal dysostosis: variable expression in a three-generation family. (2289316)
1990
26
Dysostosis multiplex. (2128085)
1990
27
Craniofrontonasal dysostosis with deafness and axillary pterygia. (2688423)
1989
28
Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. (3228151)
1988
29
Spondylocostal dysostosis: report of three patients. (3331396)
1987
30
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. (4061487)
1985
31
Thirty-six years after a mandibulo-facial dysostosis operation. (4069591)
1985
32
The continuity of mandibular form in mandibulofacial dysostosis. (6958720)
1982
33
Metaphyseal dysostosis of bone. (7184919)
1982
34
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. (7452413)
1981
35
Ossification defects and craniofacial morphology in incomplete forms of mandibulofacial dysostosis. A description of two dry skulls. (6784968)
1981
36
Proceedings: Dysostosis multiplex syndrome. (402677)
1977
37
Cleidocranial dysostosis, hereditary haemorrhagic telangiectasia and epilepsy: a rare association. (846650)
1977
38
Cleidocranial dysostosis. A review and case report. (1060018)
1976
39
Craniofacial dysostosis with syringomyelia and associated anomalies. (1247397)
1976
40
Metaphysial dysostosis (Jansen type). Report of a case with long follow-up. (1270485)
1976
41
An x-radiocephalometric study of mandibulofacial dysostosis in man. (1056770)
1975
42
Cleidocranial dysostosis with mandibular cyst. Report of a case. (1097984)
1975
43
Correction of the skeletal anomalies of oto-mandibular dysostosis. (4533024)
1974
44
Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. (4141701)
1974
45
Cleidocranial dysostosis--a case report. (4535080)
1973
46
Mandibulo-facial dysostosis. A case report. (4519859)
1973
47
Multiple impacted teeth in cleidocranial dysostosis. (4502239)
1972
48
Midface osteotomies for correction of facial deformities (craniofacial dysostosis and maxillary hypoplasia). (4666942)
1972
49
Mandibulofacial dysostosis; or bilateral facial agenesia (Treacher-Collins syndrome). (13606209)
1958
50
Mandibulofacial dysostosis (Treacher Collins syndrome). (13521108)
1958

Genetic Variations for Dysostosis

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Expression for genes affiliated with Dysostosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dysostosis

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Pathways for genes affiliated with Dysostosis

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Dysostosis

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44Novoseek, 24HMDB
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Compounds related to Dysostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate44 2411.1FGFR2, CHST3, ARSA
2sulfate44 2410.8FGFR2, CHST3, ARSA, ARSD
3glycosaminoglycan449.8ARSA, CHST3, FGFR2

GO Terms for genes affiliated with Dysostosis

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16Gene Ontology
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Cellular components related to Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cilium membraneGO:06017010.3EVC, EVC2

Biological processes related to Dysostosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1compartment pattern specificationGO:00738610.3DLL3, LFNG
2mesoderm developmentGO:00749810.3TBX6, HES7
3signal transduction involved in regulation of gene expressionGO:02301910.2TBX6, MESP2, MESP1
4mesodermal cell migrationGO:00807810.2MESP2, MESP1
5skeletal system developmentGO:00150110.1HES7, DLL3, EVC, PAX1
6bone morphogenesisGO:06034910.1FGFR2, PAX1
7somitogenesisGO:00175610.1PAX1, DLL3, POFUT1, MESP2, HES7
8positive regulation of Notch signaling pathwayGO:0457479.9LFNG, MESP1
9Notch signaling pathwayGO:0072199.9LFNG, HES7, MESP1, MESP2, POFUT1, DLL3

Molecular functions related to Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:04698310.1MESP2, MESP1, HES7
2arylsulfatase activityGO:0040659.9ARSA, ARSD

Products for genes affiliated with Dysostosis

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Sources for Dysostosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet