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MCID: DYS018
MIFTS: 43

Dysostosis

Categories: Bone diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Dysostosis

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MalaCards integrated aliases for Dysostosis:

Name: Dysostosis 12 76 55 15
Dysostoses 44 73

Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1934
MeSH 44 D004413
NCIt 50 C34560
UMLS 73 C0013393
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Summaries for Dysostosis

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Disease Ontology : 12 A bone development disease that results in defective ossification of located in bone.

MalaCards based summary : Dysostosis, also known as dysostoses, is related to acrofacial dysostosis 1, nager type and weyers acrofacial dysostosis. An important gene associated with Dysostosis is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Neural Crest Differentiation and Gene regulatory network modelling somitogenesis. The drugs Tranexamic Acid and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 76 A dysostosis is a disorder of the development of bone, in particular affecting... more...

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Related Diseases for Dysostosis

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

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 1, nager type 34.2 DHODH EFTUD2 SF3B4
2 weyers acrofacial dysostosis 34.1 EVC EVC2
3 spondylocostal dysostosis 5 34.0 HES7 TBX6
4 mandibulofacial dysostosis, guion-almeida type 33.9 EFTUD2 SF3B4
5 spondylocostal dysostosis 1, autosomal recessive 33.7 DLL3 HES7 LFNG MESP2
6 spondylocostal dysostosis 3, autosomal recessive 33.7 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
7 diamond-blackfan anemia 15 with mandibulofacial dysostosis 33.4 RPS28 TSR2
8 acrofacial dysostosis 33.2 DHODH EVC EVC2 POLR1A SF3B4
9 spondylocostal dysostosis, autosomal recessive 33.2 DLL3 HES7 LFNG MESP2 RIPPLY2
10 treacher collins syndrome 1 32.9 DHODH EFTUD2 POLR1A SF3B4
11 choanal atresia, posterior 29.9 EFTUD2 FGFR2
12 scoliosis 29.7 DLL3 HES7 LFNG MESP2 RIPPLY2 RUNX2
13 postaxial acrofacial dysostosis 12.5
14 acrofacial dysostosis syndrome of rodriguez 12.5
15 mandibulofacial dysostosis with alopecia 12.5
16 acrofacial dysostosis, palagonia type 12.4
17 acrofrontofacionasal dysostosis 12.4
18 acrofacial dysostosis, cincinnati type 12.4
19 acromelic frontonasal dysostosis 12.4
20 hypomandibular faciocranial dysostosis 12.4
21 acrofacial dysostosis, catania type 12.4
22 oculomaxillofacial dysostosis 12.3
23 spondylospinal thoracic dysostosis 12.3
24 spondylocostal dysostosis 6, autosomal recessive 12.2
25 acrofrontofacionasal dysostosis 1 12.2
26 craniofacial dysostosis with diaphyseal hyperplasia 12.2
27 spondylocostal dysostosis 2, autosomal recessive 12.2
28 acrofrontofacionasal dysostosis 2 12.2
29 spondylocostal dysostosis 4, autosomal recessive 12.2
30 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.2
31 split-foot deformity with mandibulofacial dysostosis 12.2
32 spondylocostal dysostosis 1 12.1
33 peripheral dysostosis 12.1
34 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 12.1
35 maxillofacial dysostosis 12.1
36 spondylocostal dysostosis with anal atresia and urogenital anomalies 12.1
37 mandibulofacial dysostosis with macroblepharon and macrostomia 12.1
38 acrocraniofacial dysostosis 12.0
39 cleidocranial dysplasia 12.0
40 branchial arch syndrome, x-linked 12.0
41 acrofacial dysostosis, kennedy-teebi type 12.0
42 spondylocostal dysostosis 2 12.0
43 acral dysostosis dyserythropoiesis syndrome 12.0
44 crouzon syndrome 12.0
45 spondylocostal dysostosis 3 11.9
46 thoracopelvic dysostosis 11.9
47 metaphyseal dysostosis, mental retardation, and conductive deafness 11.9
48 spondylocostal dysostosis 4 11.9
49 fontaine progeroid syndrome 11.9
50 acrodysostosis 11.9

Graphical network of the top 20 diseases related to Dysostosis:



Diseases related to Dysostosis
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Symptoms & Phenotypes for Dysostosis

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MGI Mouse Phenotypes related to Dysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
2 mortality/aging MP:0010768 10.13 ALX4 DHODH DLL3 EDNRA EFTUD2 EVC
3 embryo MP:0005380 10.06 ALX4 DLL3 EDNRA FGFR2 HES7 LFNG
4 limbs/digits/tail MP:0005371 10.06 ALX4 DLL3 EVC EVC2 FGFR2 HES7
5 craniofacial MP:0005382 9.98 ALX4 DLL3 EDNRA EVC EVC2 FGFR2
6 muscle MP:0005369 9.7 ALX4 DLL3 EDNRA FGFR2 MESP2 RIPPLY2
7 nervous system MP:0003631 9.65 ALX4 CHST3 DLL3 EDNRA FGFR2 LFNG
8 skeleton MP:0005390 9.47 ALX4 CHST3 DHODH DLL3 EDNRA EVC
Sources

Drugs & Therapeutics for Dysostosis

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Psychotropic Drugs Phase 4,Phase 2
9 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
11 Tranquilizing Agents Phase 4,Phase 2
12 Skullcap Phase 4,Phase 1
13 Central Nervous System Stimulants Phase 4
14 Dopamine Agents Phase 4
15 Dopamine Antagonists Phase 4
16 Antipsychotic Agents Phase 4
17 Serotonin Agents Phase 4
18 Serotonin Antagonists Phase 4
19 Neurotransmitter Uptake Inhibitors Phase 4
20 Dopamine Uptake Inhibitors Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
23
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
24 tannic acid Approved Phase 1, Phase 2
25
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
26
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
27
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
28
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
29
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6, 75614-87-8 774
30
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
31
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
32
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
33
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
34
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
35
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
36
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
37
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
38
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
39 Phytosterol Phase 1, Phase 2,Not Applicable
40 Antimetabolites Phase 2,Not Applicable
41 Lipid Regulating Agents Phase 2,Not Applicable
42 Hypolipidemic Agents Phase 2,Not Applicable
43 Anticholesteremic Agents Phase 2,Not Applicable
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
45 Calcium, Dietary Phase 1, Phase 2,Phase 2,Not Applicable
46 Analgesics Phase 1, Phase 2
47 Peripheral Nervous System Agents Phase 1, Phase 2
48 Histone Deacetylase Inhibitors Phase 2
49 Antimanic Agents Phase 2
50 Anticonvulsants Phase 2

Interventional clinical trials:

(show top 50) (show all 91)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
3 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
4 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
5 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
6 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
7 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
8 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
9 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
10 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
11 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
12 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
13 Efficacy of Amicar for Children Having Craniofacial Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
14 Phase I/II Thymus Transplantation With Immunosuppression #950 Active, not recruiting NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
15 Thymus Transplantation Dose in DiGeorge #932 Active, not recruiting NCT00576836 Phase 2
16 Thymus Transplantation in DiGeorge Syndrome #668 Active, not recruiting NCT00576407 Phase 2
17 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
18 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
19 Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions Completed NCT02895906 Phase 1 NFC-1
20 Thymus Transplantation With Immunosuppression Active, not recruiting NCT00579709 Phase 1
21 Parathyroid and Thymus Transplantation in DiGeorge #931 Active, not recruiting NCT00566488 Phase 1
22 Bone Reconstruction of the Skull Using a Metal Ceramic Implant After Previously Failed Reconstruction Unknown status NCT01899807 Not Applicable
23 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
24 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
25 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
26 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
27 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
28 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
29 Non-Invasive Chromosomal Evaluation of 22q11.2 Unknown status NCT02541058
30 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
31 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
32 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
33 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
34 The Natural History of Alpha-Mannosidosis Completed NCT00498420
35 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
36 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
37 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
38 Optic Nerve Sheath Diameter in Craniosynostosis Completed NCT03131245
39 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Not Applicable Tranexamic Acid;normal saline
40 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable
41 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
42 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643 Not Applicable
43 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
44 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Completed NCT02483702 Not Applicable
45 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable
46 Child and Infant Learning Project Completed NCT00077831
47 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
48 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
49 Cognitive Remediation in 22q11DS Completed NCT01781923 Not Applicable
50 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165

Search NIH Clinical Center for Dysostosis

Cochrane evidence based reviews: dysostoses

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Genetic Tests for Dysostosis

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Anatomical Context for Dysostosis

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MalaCards organs/tissues related to Dysostosis:

41
Bone, Eye, Heart, Lung, Kidney, Spleen, Neutrophil
Sources

Publications for Dysostosis

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Articles related to Dysostosis:

(show top 50) (show all 820)
# Title Authors Year
1
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. ( 29704261 )
2018
2
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. ( 29929043 )
2018
3
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. ( 29750247 )
2018
4
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. ( 29381487 )
2018
5
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. ( 29765785 )
2018
6
Therapeutic Protocol for Orthosurgical Management of Class III Malocclusion in Patients With Cleidocranial Dysostosis. ( 29877984 )
2018
7
The Treatment of Cleidocranial Dysostosis (Scheuthauer-Marie-Sainton Syndrome), a Rare Form of Skeletal Dysplasia, Accompanied by Spinal Deformities: A Review of the Literature and Two Case Reports. ( 30123598 )
2018
8
Spondylocostal dysostosis (Jarcho-Levin syndrome) in an adult patient with consanguineous parents, in long-term follow-up. ( 30448585 )
2018
9
Identification of novel LFNG mutations in spondylocostal dysostosis. ( 30531807 )
2018
10
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. ( 27670155 )
2017
11
Mandibulofacial dysostosis Bauru type: Refining the phenotype. ( 28558149 )
2017
12
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. ( 28196820 )
2017
13
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. ( 28611549 )
2017
14
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. ( 28815954 )
2017
15
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
16
Maxillary sinuses and midface in patients with cleidocranial dysostosis. ( 28889021 )
2017
17
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
18
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. ( 28186364 )
2017
19
Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. ( 27671791 )
2016
20
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764 )
2016
21
Congenital hemangioma in spondylocostal dysostosis: a novel association. ( 28300884 )
2016
22
EP10.02: Nager acrofacial dysostosis: early first trimester ultrasound or exome sequencing? ( 27645160 )
2016
23
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
24
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. ( 27378064 )
2016
25
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ( 27642715 )
2016
26
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27935951 )
2016
27
Cleidocranial dysostosis : A rare case report. ( 27728738 )
2016
28
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 )
2016
29
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
30
Dental Management of a Patient with Nager Acrofacial Dysostosis. ( 26527228 )
2015
31
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. ( 25735261 )
2015
32
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680 )
2015
33
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. ( 26701993 )
2015
34
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. ( 26706854 )
2015
35
Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia. ( 25772936 )
2015
36
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705 )
2015
37
Scheuermann's disease (dysostosis) of the spine. ( 25611402 )
2015
38
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
39
Cleidocranial dysostosis. ( 26311012 )
2015
40
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
41
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. ( 26507355 )
2015
42
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015
43
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence. ( 25427842 )
2015
44
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344 )
2015
45
Broadening the spectrum of Catania brachydactylous type of acrofacial dysostoses. ( 25945454 )
2015
46
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome). ( 25304117 )
2014
47
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
48
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313 )
2014
49
Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. ( 25395774 )
2014
50
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. ( 25105228 )
2014
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Variations for Dysostosis

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Expression for Dysostosis

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Search GEO for disease gene expression data for Dysostosis.
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Pathways for Dysostosis

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Pathways related to Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
11.14 DLL3 FGFR2 TBX6
2
Gene regulatory network modelling somitogenesis 1
10.06 HES7 LFNG MESP2 RIPPLY2 TBX6
Sources

GO Terms for Dysostosis

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Cellular components related to Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane protein complex GO:0098797 8.62 EVC EVC2

Biological processes related to Dysostosis according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 post-anal tail morphogenesis GO:0036342 9.51 HES7 RIPPLY2
2 skeletal system morphogenesis GO:0048705 9.5 ALX4 FGFR2 RUNX2
3 regulation of osteoblast differentiation GO:0045667 9.49 FGFR2 RUNX2
4 somite rostral/caudal axis specification GO:0032525 9.48 RIPPLY2 TBX6
5 Notch signaling pathway GO:0007219 9.46 DLL3 HES7 MESP2 RIPPLY2
6 endochondral bone growth GO:0003416 9.43 EVC FGFR2
7 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.4 FGFR2 RUNX2
8 regulation of somitogenesis GO:0014807 9.37 HES7 LFNG
9 skeletal system development GO:0001501 9.35 ALX4 DLL3 EVC HES7 RUNX2
10 compartment pattern specification GO:0007386 9.26 DLL3 LFNG
11 somitogenesis GO:0001756 9.02 DLL3 HES7 LFNG MESP2 RIPPLY2
12 multicellular organism development GO:0007275 10 ALX4 DLL3 HES7 LFNG MESP2 RIPPLY2
Sources

Sources for Dysostosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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