MCID: DYS018
MIFTS: 45

Dysostosis malady

Summaries for Dysostosis

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8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 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, 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

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
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Aliases & Descriptions:

dysostosis 8 10 45
dysostoses 61


External Ids:

Disease Ontology8 DOID:1934
MeSH35 D004413
SNOMED-CT57 109420003
NCIt40 C34560

Related Diseases for Dysostosis

Sources:
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 dysostosis31.1LFNG, HES7, MESP2, TBX6, POFUT1, DLL3
2spondylocostal dysostosis 130.3LFNG, HES7, MESP2, DLL3
3dwarfism29.9FGFR2
4polydactyly29.9EVC, EVC2, FGFR2
5nager acrofacial dysostosis10.7
6treacher collins syndrome10.6
7n syndrome10.5
8weyers acrofacial dysostosis10.5
9crouzon syndrome10.4
10dysostosis peripheral10.4
11acrofrontofacionasal dysostosis syndrome10.4
12spondylocostal dysostosis, autosomal recessive10.3
13acrofacial dysostosis palagonia type10.3
14acrofacial dysostosis rodriguez type10.3
15micro syndrome10.3
16craniofacial dysostosis with diaphyseal hyperplasia10.3
17genee-wiedemann syndrome10.3
18mental retardation10.3
19cleidocranial dysplasia10.3
20acrofacial dysostosis catania type10.3
21hypomandibular faciocranial dysostosis10.3
22cleft palate10.2
23oculomaxillofacial dysostosis10.2
24microcephaly10.2
25spondyloepiphyseal dysplasia with congenital joint dislocations10.2
26acromelic frontonasal dysostosis10.2
27maxillofacial dysostosis10.2
28spondylocostal dysostosis 210.2
29mandibulofacial dysostosis, guion-almeida type10.2
30spondylocostal dysostosis, autosomal dominant10.2
31binder syndrome10.2
32acrodysostosis10.2
33spondylospinal thoracic dysostosis10.2
34spinal dysostosis type anhalt10.1
35frontofacionasal dysplasia10.1
36metaphyseal dysostosis mental retardation conductive deafness10.1
37microtia10.1
38x-linked mandibulofacial dysostosis10.1
39goldenhar syndrome10.1
40syndactyly10.1
41acral dysostosis dyserythropoiesis syndrome10.1
42naguib-richieri-costa syndrome10.1
43spondylocostal dysostosis 410.1
44craniofacial dysostosis arthrogryposis progeroid appearence10.1
45growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.1
46treacher collins syndrome 310.1
47thoracopelvic dysostosis10.1
48mandibulofacial dysostosis - macroblepharon - macrostomia10.1
49spondylocostal dysostosis - anal and genitourinary malformations10.1
50fucosidosis10.0

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to dysostosis

Clinical Features for Dysostosis

Drugs & Therapeutics for Dysostosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Dysostosis

Drug clinical trials:

Search ClinicalTrials for Dysostosis

Search NIH Clinical Center for Dysostosis

Search CenterWatch for Dysostosis

Genetic Tests for Dysostosis

Anatomical Context for Dysostosis

Sources:
14FMA
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FMA organs/tissues related to Dysostosis:

14
Bone

Animal Models for Dysostosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Dysostosis

Sources:
51PubMed
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Articles related to Dysostosis:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. (23653874)
2013
2
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. (22052670)
2011
3
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (18775957)
2008
4
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. (18000904)
2007
5
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. (16567446)
2006
6
Nager syndrome (preaxial acrofacial dysostosis): a case report. (15184856)
2004
7
Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis. (15206096)
2004
8
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. (12868087)
2003
9
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. (11836366)
2002
10
Cleidocranial dysostosis. Prenatal ultrasound diagnosis of a late onset form. (11084978)
2000
11
Thoracic-pelvic dysostosis. (11045587)
2000
12
Mandibulofacial dysostosis Bauru type syndrome: A new case. (10449663)
1999
13
Breathing patterns in children with craniofacial dysostosis and hindbrain herniation. (9623689)
1998
14
Congenital heart disease in spondylothoracic dysostosis: two familial cases. (7473656)
1995
15
Congenital absence of skin and blistering in a neonate. Bart's syndrome and mandibulofacial dysostosis. (7574841)
1995
16
Treacher Collins syndrome (mandibulofacial dysostosis). (7813160)
1994
17
Confirmation of the mandibulofacial dysostosis, Toriello type. (8465866)
1993
18
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. (8266994)
1993
19
Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. (8357565)
1993
20
Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance. (8500258)
1993
21
Ear deformities in mandibulofacial dysostosis. (1636410)
1992
22
Mandibulo-facial dysostosis--the eye signs of a case study. (1788588)
1991
23
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. (2750779)
1989
24
Autosomal recessive inheritance of Nager acrofacial dysostosis. (3367347)
1988
25
Cleidocranial dysostosis--case report. (3182042)
1988
26
Strabismus in craniofacial dysostosis. (3402745)
1988
27
The mandible in mandibulofacial dysostosis: a cephalometric study. (3458371)
1986
28
Anomalies in an infant with Nager acrofacial dysostosis. (4025401)
1985
29
Contrasting mandibular growth and facial development in long face syndrome, juvenile rheumatoid polyarthritis, and mandibulofacial dysostosis. (3877091)
1985
30
Cranial base dynamics in craniofacial dysostosis. (6585455)
1984
31
Cleidocranial dysostosis: some problems in the dental management of occlusion. (6590401)
1984
32
Cleidocranial dysostosis--two case reports. (6341907)
1983
33
A case of pykno-dysostosis with psychosis. (21965911)
1982
34
Cleidocranial dysostosis. (6959094)
1980
35
Humero-spinal dysostosis. (112567)
1979
36
Assessment of intellectual development after surgery for craniofacial dysostosis. (420183)
1979
37
Radiology of the ear in mandibulo-facial dysostosis--Treacher Collins syndrome. (452933)
1979
38
Familial metaphyseal dysostosis: a case report. (873968)
1977
39
The otologic manifestations of mandibulofacial dysostosis. (888269)
1977
40
Early surgery for isolated craniofacial dysostosis. Commentary. (918185)
1977
41
Early surgery for isolated craniofacial dysostosis. Improvement and possible prevention of increasing deformity. (909968)
1977
42
Mandibulo-facial dysostosis in South African Negroes: a new look at the classification of the syndrome. (1067784)
1976
43
Craniofacial dysostosis-either Stanesco dysostosis or a new entity. (4461088)
1974
44
Cleidocranial dysostosis. Report of a case. (4524493)
1974
45
Surgical and orthodontic treatment of cleidocranial dysostosis. (4217313)
1974
46
Cleidocranial dysostosis: report of a case. (4585072)
1973
47
A family with dysostosis cleido-cranialis in twins. With rare or never mentioned aspects in the relatives. (4787840)
1973
48
Metaphyseal dysostosis, Jansen type. (4634045)
1973
49
Cleidocranial dysostosis: report of 4 cases. (4502590)
1972
50
BERRY-TREACHER COLLINS SYNDROME: A REVIEW OF 200 CASES (MANDIBULO-FACIAL DYSOSTOSIS; FRANCESCHETTI-ZWAHLEN-KLEIN SYNDROMES). (14150863)
1964

Genetic Variations for Dysostosis

Expression for genes affiliated with Dysostosis

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

Search GEO for disease gene expression data for Dysostosis.

Pathways for genes affiliated with Dysostosis

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Dysostosis

Sources:
45Novoseek, 24HMDB
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Compounds related to Dysostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate45 2411.1FGFR2, CHST3, ARSA
2sulfate45 2410.8FGFR2, CHST3, ARSA, ARSD
3glycosaminoglycan459.8ARSA, CHST3, FGFR2

GO Terms for genes affiliated with Dysostosis

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet