MCID: MTP001
MIFTS: 45

Metaphyseal Dysplasia malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Metaphyseal Dysplasia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metaphyseal Dysplasia:

Name: Metaphyseal Dysplasia 10 45 47 12
Pyle's Disease 10 45
Pyle Disease 45 51
Metaphyseal Dysplasia, Pyle Type 51
 
Metaphyseal Dysplasia Pyle Type 45
Pyle Metaphyseal Dysplasia 65
Bakwin-Krida Syndrome 10
Pyle-Cohn Syndrome 10

Characteristics:

Orphanet epidemiological data:

51
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


Classifications:



External Ids:

Disease Ontology10 DOID:0080019
Orphanet51 3005
ICD10 via Orphanet28 Q78.5
MESH via Orphanet37 C536252
ICD1027 Q78.5
UMLS65 C0265294

Summaries for Metaphyseal Dysplasia

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NIH Rare Diseases:45 Pyle disease is a bone disorder characterized by genu valgum (knock knees), erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. only about 30 cases have been reported in the literature. cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. pyle disease is passed through families in an autosomal recessive manner. last updated: 9/16/2013

MalaCards based summary: Metaphyseal Dysplasia, also known as pyle's disease, is related to metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly and mckusick type metaphyseal dysplasia, and has symptoms including genu valgum, abnormality of the elbow and craniofacial hyperostosis. An important gene associated with Metaphyseal Dysplasia is AIRE (Autoimmune Regulator), and among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, bone and endothelial, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:10 An osteochondrodysplasia that results in thinning and the tendency to fracture located in bone.

Wikipedia:68 Metaphyseal dysplasia, also known as Pyle\'s disease,Pyle\'s syndrome, Pyle-Cohn syndrome, and... more...

Related Diseases for Metaphyseal Dysplasia

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

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly33.9COL10A1, RUNX2
2mckusick type metaphyseal dysplasia30.6ACP5, AIRE, CDKN1C, COL10A1, MMP13, NKX3-2
3spondylo-megaepiphyseal-metaphyseal dysplasia12.6
4ulna metaphyseal dysplasia syndrome12.5
5autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.5
6metaphyseal dysplasia, spahr type12.5
7intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies12.5
8metaphyseal dysplasia without hypotrichosis12.4
9metaphyseal dysplasia, braun-tinschert type12.4
10metaphyseal dysplasia maxillary hypoplasia brachydactyly12.3
11shwachman-diamond type metaphyseal dysplasia12.3
12multiple joint dislocations metaphyseal dysplasia12.3
13metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome12.3
14image syndrome12.1
15metaphyseal chondrodysplasia, schmid type11.9
16metaphyseal anadysplasia11.9
17verloes van maldergem marneffe syndrome11.4
18spondyloepimetaphyseal dysplasia11.3
19say carpenter syndrome11.3
20spondyloepimetaphyseal dysplasia micromelic11.3
21spondylometaphyseal dysplasia sedaghatian type11.3
22metaphyseal chondrodysplasia, murk jansen type11.0
23frontometaphyseal dysplasia10.5
24metaphyseal acroscyphodysplasia10.5
25metaphyseal chondrodysplasia spahr type10.5
26metaphyseal dysostosis-intellectual disability-conductive deafness syndrome10.5
27craniometaphyseal dysplasia10.5
28craniometaphyseal dysplasia, autosomal recessive10.3
29dyggve-melchior-clausen disease10.3
30spondyloenchondrodysplasia with immune dysregulation10.3
31axial spondylometaphyseal dysplasia10.3
32prostate cancer10.2
33myasthenia gravis10.2
34prostatitis10.2
35retinitis10.2
36yellow fever10.2
37glioma10.2
38endotheliitis10.2
39orbital granuloma10.2AIRE, NR0B1
40epithelioid trophoblastic tumor10.1CDKN1C, NR0B1
41ehlers-danlos syndrome, musculocontractural type 210.1COL10A1, RUNX2
42acrodermatitis chronica atrophicans10.1ACP5, RUNX2
43testicular germ cell tumor non-seminomatous10.1CDKN1C, NR0B1
44bone structure disease10.1ACP5, RUNX2
45bone mineral density, low10.1CDKN1C, NR0B1
46schizophrenia10.1
47neuroblastoma10.1
48colorectal cancer10.1
49breast cancer10.1
50renal cell carcinoma10.1

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



Diseases related to metaphyseal dysplasia

Symptoms for Metaphyseal Dysplasia

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Symptoms:

 51 (show all 16)
  • genu valgum
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • autosomal recessive inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • prominent supraorbital ridge
  • prognathism/prognathia
  • clavicle absent/abnormal
  • anomalies of the ribs
  • scoliosis
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • elbow anomalies(excluding luxation)
  • mutiple fractures/bone fragility
  • dental malocclusion
  • multiple caries
  • abnormal vertebral size/shape

HPO human phenotypes related to Metaphyseal Dysplasia:

(show all 24)
id Description Frequency HPO Source Accession
1 genu valgum hallmark (90%) HP:0002857
2 abnormality of the elbow typical (50%) HP:0009811
3 craniofacial hyperostosis typical (50%) HP:0004493
4 recurrent fractures typical (50%) HP:0002757
5 scoliosis typical (50%) HP:0002650
6 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
7 abnormality of the clavicle typical (50%) HP:0000889
8 abnormality of the ribs typical (50%) HP:0000772
9 prominent supraorbital ridges typical (50%) HP:0000336
10 mandibular prognathia typical (50%) HP:0000303
11 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
12 dental malocclusion occasional (7.5%) HP:0000689
13 carious teeth occasional (7.5%) HP:0000670
14 metaphyseal dysplasia HP:0100255
15 genu valgum HP:0002857
16 arthralgia HP:0002829
17 thickened calvaria HP:0002684
18 scoliosis HP:0002650
19 limited elbow extension HP:0001377
20 muscle weakness HP:0001324
21 platyspondyly HP:0000926
22 abnormality of the thorax HP:0000765
23 carious teeth HP:0000670
24 mandibular prognathia HP:0000303

Drugs & Therapeutics for Metaphyseal Dysplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Metaphyseal Dysplasia

Genetic Tests for Metaphyseal Dysplasia

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Anatomical Context for Metaphyseal Dysplasia

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MalaCards organs/tissues related to Metaphyseal Dysplasia:

33
Bone, Endothelial, Monocytes, Breast, Heart, Prostate, Ovary

FMA organs/tissues related to Metaphyseal Dysplasia:

16
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Metaphyseal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.0COL10A1, MMP13, NKX3-2, PTHLH, RUNX2
2MP:00053827.8COL10A1, NKX3-2, PTHLH, RUNX2
3MP:00053907.8COL10A1, MMP13, NKX3-2, PTHLH, RUNX2
4MP:00053797.6AIRE, COL10A1, NKX3-2, NR0B1, PTHLH, RUNX2
5MP:00053847.4AIRE, COL10A1, MMP13, NKX3-2, PTHLH, RUNX2

Publications for Metaphyseal Dysplasia

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Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Aurora kinase A and B as new treatment targets in aromatase inhibitor-resistant breast cancer cells. (25667100)
2015
2
Deregulation of Internal Ribosome Entry Site-Mediated p53 Translation in Cancer Cells with Defective p53 Response to DNA Damage. (26391949)
2015
3
HLA-B*38:55Q: a new alternatively expressed allele identified in a three-generation Italian family. (25976429)
2015
4
Evaluation of the Diagnostic Performance of the Xpert Clostridium difficile Assay and Its Comparison With the Toxin A/B Enzyme-Linked Fluorescent Assay and In-House Real-Time PCR Assay Used for the Detection of Toxigenic C. difficile. (24395702)
2014
5
PCSK9 gene mutations and low-density lipoprotein cholesterol. (24518357)
2014
6
Safe azathioprine treatment in a pediatric ulcerative colitis patient with TPMT*16 by thiopurine metabolite monitoring. (25036765)
2014
7
Differential modulations of KCNQ1 by auxiliary proteins KCNE1 and KCNE2. (24827085)
2014
8
NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians. (25367361)
2014
9
KlA1ver-Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis. (23636147)
2013
10
First experience with a wireless system incorporating physiologic assessments and direct confirmation of digital tablet ingestions in ambulatory patients with schizophrenia or bipolar disorder. (23842023)
2013
11
Dynamics of physical interaction between HIV-1 Nef and ASK1: identifying the interacting motif(s). (23799149)
2013
12
The influence of Borna disease viral infection on dairy cow reproduction. (22123302)
2012
13
A novel molecular mechanism involved in multiple myeloma development revealed by targeting MafB to haematopoietic progenitors. (22903061)
2012
14
Role of chemotherapy and molecularly targeted agents in the treatment of adenoid cystic carcinoma of the lacrimal gland. (21183517)
2011
15
Images in clinical medicine. Polydactyly. (22129256)
2011
16
Tissue factor expression on monocytes from patients with severe dengue fever. (20846886)
2010
17
A Huge Ovarian Cyst in a Middle-Aged Iranian Female. (20740191)
2010
18
Dietary deficiency in folate and vitamin E under conditions of oxidative stress increases phospho-tau levels: potentiation by ApoE4 and alleviation by S-adenosylmethionine. (19433897)
2009
19
Interleukin-8 T-251A polymorphism was associated with positive anti-p53 antibodies in Uzbekistan population. (19994728)
2009
20
Insulin-induced NADPH oxidase activation promotes proliferation and matrix metalloproteinase activation in monocytes/macrophages. (19439231)
2009
21
Bilateral vs unilateral medial rectus resection for recurrent exotropia after bilateral lateral rectus recession. (19541284)
2009
22
A thyroid thriller: acute transient and symmetric goiter after fine-needle aspiration of a solitary thyroid nodule. (18302522)
2008
23
The Yin and Yang of interleukin-21 in allergy, autoimmunity and cancer. (18554883)
2008
24
A role for fibroblasts in mediating the effects of tobacco-induced epithelial cell growth and invasion. (18644973)
2008
25
Cyclosporin-A inhibits stretch-induced changes in myosin heavy chain expression in C2C12 skeletal muscle cells. (15584088)
2006
26
Dihydropyrrolopyrazole transforming growth factor-beta type I receptor kinase domain inhibitors: a novel benzimidazole series with selectivity versus transforming growth factor-beta type II receptor kinase and mixed lineage kinase-7. (16539403)
2006
27
Characterization of human Enah gene. (16494957)
2006
28
Neurosarcoidosis. (16199809)
2005
29
Comparative assessment of various methods of determination of interleukin-5 production and their clinical significance in bronchial asthma]. (15188744)
2004
30
LDL particle size and lipid composition are risk factors for microalbuminuria in normotensive and normocholesterolemic patients with type 2 diabetes. (15536019)
2004
31
The effects of M-CSF and IL-10 on IL-12 and IL-18 production and expressions of HLA-DR and CD80 by human monocytes]. (15182625)
2004
32
The kallikrein gene 5 splice variant 2 is a new biomarker for breast and ovarian cancer. (15627884)
2004
33
Restoration of podosomes and chemotaxis in Wiskott-Aldrich syndrome macrophages following induced expression of WASp. (11950596)
2002
34
Effects of prenatal exposure to cocaine on the developing brain: anatomical, chemical, physiological and behavioral consequences. (15111265)
2001
35
Generation of annexin V-positive platelets and shedding of microparticles with stimulus-dependent procoagulant activity during storage of platelets at 4 degrees C. (10773053)
2000
36
Inhibition of cyclooxygenase-2 suppresses angiogenesis and the growth of prostate cancer in vivo. (10953162)
2000
37
Rapid analysis of CGG repeat length in the FMR1 gene. (11097353)
2000
38
The influence of mode of delivery, hormonal status and postnatal O2 environment on epithelial sodium channel (ENaC) expression in perinatal guinea-pig lung. (10618159)
2000
39
The dangers of atypical mole (dysplastic nevus) syndrome. Teaching at-risk patients to protect themselves from melanoma. (10376056)
1999
40
Participation of phosphoinositide-specific phospholipase Cgamma1 and STAT1 protein in the formation of latent complexes of signal proteins]. (9793178)
1998
41
Analysis of human parainfluenza virus 3 receptor binding variants: evidence for the use of a specific sialic acid-containing receptor. (8965678)
1996
42
Pouch permeability: breaching barriers to understanding pouchitis? (8977355)
1996
43
Parathyroid hormone-related protein expression in human gastric adenocarcinomas not associated with hypercalcemia. (7572910)
1995
44
Elevated high density lipoprotein concentrations in heart transplant recipients are related to impaired plasma cholesteryl ester transfer and hepatic lipase activity. (8280183)
1993
45
Approach to the patient with prolonged granulocytopenia. (8265871)
1993
46
Acquired cystic kidney disease: occurrence, prevalence, and renal cancers. (2374506)
1990
47
High-dose intravenous immunoglobulins in HIV-1-infected adults with AIDS-related complex and Walter-Reed 5. (1978443)
1990
48
Optic nerve sheath fenestration in pseudotumor cerebri. A lateral orbitotomy approach. (3052386)
1988
49
Humero-spinal dysostosis. (112567)
1979
50
Some common factors in the causation of postural hypotension. (5796810)
1969

Variations for Metaphyseal Dysplasia

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Expression for genes affiliated with Metaphyseal Dysplasia

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Search GEO for disease gene expression data for Metaphyseal Dysplasia.

Pathways for genes affiliated with Metaphyseal Dysplasia

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GO Terms for genes affiliated with Metaphyseal Dysplasia

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:000195810.1MMP13, RUNX2
2digestive system developmentGO:005512310.0CDKN1C, NKX3-2
3skeletal system developmentGO:00015019.9CDKN1C, NKX3-2
4ossificationGO:00015039.7ACP5, RUNX2
5collagen catabolic processGO:00305749.7COL10A1, MMP13
6adrenal gland developmentGO:00303259.6CDKN1C, NR0B1
7bone morphogenesisGO:00603499.5ACP5, MMP13
8transcription from RNA polymerase II promoterGO:00063669.3AIRE, NKX3-2, RUNX2
9negative regulation of transcription from RNA polymerase II promoterGO:00001228.9CDKN1C, NKX3-2, NR0B1

Sources for Metaphyseal 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