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
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. (20087400)
2010
2
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. (18627039)
2008
3
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. (18520929)
2008
4
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. (17431905)
2007
5
Aplasia and displacement of the horizontal portion of the petrous carotid artery in mandibulofacial dysostosis. (18340571)
2007
6
Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. (17674260)
2007
7
Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis. (15876776)
2005
8
A profile of the features and speech in patients with mandibulofacial dysostosis. (12401108)
2002
9
Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly. (12416639)
2002
10
Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. (11822708)
2002
11
Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1. (12114479)
2002
12
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. (10964304)
2000
13
Autosomal dominant inheritance of scapuloiliac dysostosis. (11146474)
2000
14
New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches? (11146469)
2000
15
The craniofacial dysostosis syndromes. Staging of reconstruction and management of secondary deformities. (9246511)
1997
16
A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait. (9457496)
1997
17
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? (8779315)
1996
18
Craniofrontonasal dysostosis and the Poland anomaly. (7747768)
1994
19
Chest-wall reconstruction for spondylocostal dysostosis. (8356136)
1993
20
Hypomandibular faciocranial dysostosis: another case and review. (8135280)
1993
21
Spondylo-costal dysostosis in two siblings. (1740902)
1992
22
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. (1442899)
1992
23
Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up. (1951450)
1991
24
Le Fort II osteotomy in the treatment of maxillonasal dysostosis (Binder's syndrome). (3187793)
1988
25
Sonography of Nager acrofacial dysostosis syndrome in utero. (3280827)
1988
26
An unusual case of metaphyseal dysostosis. (3246506)
1988
27
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. (3474899)
1987
28
Postaxial acrofacial dysostosis (Miller) syndrome. (3612717)
1987
29
A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst. (3884191)
1985
30
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. (2986457)
1985
31
Frontofacial advancement with bony separation in craniofacial dysostosis. (6338535)
1983
32
Cleidocranial dysostosis. (7298175)
1981
33
A family with diaphyseal aclasis and peripheral dysostosis. (7205902)
1980
34
Craniospinal and cervicospinal malformations associated with maxillonasal dysostosis (Binder syndrome). (7440179)
1980
35
Dysostosis cleido-cranialis. (6942447)
1980
36
Cleidocranial dysostosis. (546997)
1979
37
Cleido cranial dysostosis in five generations of a family with some atypical roentgenologic features. (541083)
1979
38
Prenatal mandibulofacial dysostosis (Treacher Collins syndrome). (264276)
1977
39
Calcaneocuboid coalition in Crouzon's syndrome (craniofacial dysostosis): report of a case and review of the literature. (908708)
1977
40
Nager acrofacial dysostosis: report of a case. (874672)
1977
41
A morphologic description of a dry skull with mandibulofacial dysostosis. (1058519)
1975
42
Cementum and other root abnormalities of permanent teeth in cleidocranial dysostosis. (1058009)
1975
43
Fetal face syndrome with acral dysostosis. (4838165)
1974
44
Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis). (4469973)
1974
45
Isolated thoracic dysostosis. (4682713)
1973
46
Cleidocranial dysostosis in the Iliad. (4124804)
1973
47
Metaphyseal dysostosis: a rough surfaced endoplasmic reticulum storage defect. (4265987)
1973
48
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. (5551869)
1971
49
The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. (5370796)
1969
50
Treacher-Collins syndrome (syn. mandibulo-facial dysostosis). (14036945)
1962

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