MCID: MTP001
MIFTS: 60

Metaphyseal Dysplasia malady

Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Metaphyseal Dysplasia

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Metaphyseal Dysplasia, also known as pyle disease, is related to cartilage-hair hypoplasia and brachydactyly, and has symptoms including elbow anomalies(excluding luxation), mutiple fractures/bone fragility and dental malocclusion. An important gene associated with Metaphyseal Dysplasia is AIRE (autoimmune regulator), and among its related pathways are Degradation of the extracellular matrix and Transcription Role of VDR in regulation of genes involved in osteoporosis. The compounds pyridinoline and titanium have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and skin, and related mouse phenotypes are liver/biliary system and normal.

Disease Ontology:8 An osteochondrodysplasia that results in thinning and the tendency to fracture located in bone.

Wikipedia:65 Metaphyseal dysplasia, also known as Pyle\'s disease,Pyle\'s syndrome, Pyle-Cohn syndrome, and... more...

Description from OMIM:47 265900

Aliases & Classifications for Metaphyseal Dysplasia

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

metaphyseal dysplasia 8 43 10 45
pyle disease 43 49 47
pyle's disease 8 43
metaphyseal dysplasia, pyle type 49
metaphyseal dysplasia pyle type 43
pyle metaphyseal dysplasia 62
bakwin-krida syndrome 8
pyle-cohn syndrome 8


External Ids:

Disease Ontology8 DOID:0080019
OMIM47 265900
MESH via Orphanet36 C536252
ICD10 via Orphanet26 Q78.5
SNOMED-CT via Orphanet59 27837003

Related Diseases for Metaphyseal Dysplasia

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1cartilage-hair hypoplasia30.4COL10A1, RMRP
2brachydactyly30.4COL2A1, RUNX2
3dwarfism30.4COL2A1, PTHLH, PTH1R
4cleidocranial dysplasia30.2RUNX2
5multiple epiphyseal dysplasia30.1CRELD2, MATN3
6skeletal dysplasias29.9RUNX2, PTH1R, PTHLH, COL10A1, COL2A1, RMRP
7spondylo-megaepiphyseal-metaphyseal dysplasia10.5
8ulna metaphyseal dysplasia syndrome10.5
9intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.5
10metaphyseal dysplasia without hypotrichosis10.4
11metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.4
12craniometaphyseal dysplasia10.3
13metaphyseal anadysplasia10.3
14metaphyseal dysplasia, braun-tinschert type10.3
15schmid metaphyseal chondrodysplasia10.3
16mckusick type metaphyseal dysplasia10.3
17pancreatitis10.3
18metaphyseal dysplasia maxillary hypoplasia brachydactyly10.3
19multiple joint dislocations metaphyseal dysplasia10.3
20verloes van maldergem marneffe syndrome10.3
21osteopetrosis10.2
22schwachman diamond type metaphyseal dysplasia10.2
23jansen's metaphyseal chondrodysplasia10.2
24spondyloepimetaphyseal dysplasia, missouri type10.2
25exocrine pancreatic insufficiency10.2
26optic atrophy10.2
27image syndrome10.2
28frontometaphyseal dysplasia10.2
29lead poisoning10.2
30autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
31omenn syndrome10.1AIRE
32synovitis10.1COL2A1
33spondyloepimetaphyseal dysplasia10.1MATN3
34cartilage disease10.1COL10A1, COL2A1
35spondyloepimetaphyseal dysplasia, strudwick type10.1COL10A1, COL2A1
36gestational trophoblastic neoplasm10.1CDKN1C, NR0B1
37hyperglycerolemia10.1NR0B1, GK
38x-linked adrenal hypoplasia congenita10.1GK, NR0B1
39diastrophic dysplasia10.1MATN3, COL2A1
40paraneoplastic syndromes10.1PTHLH
41ollier disease10.1PTHLH
42adrenocortical carcinoma10.1CDKN1C, NR0B1
43schimke immunoosseous dysplasia10.1AIRE, SBDS
44adrenal adenoma10.1NR0B1, CDKN1C
45achondroplasia10.1PTH1R, COL2A1
46addison's disease10.0NR0B1, GK, AIRE
47osteogenesis imperfecta10.0COL2A1, PTH1R
48developmental disabilities10.0NR0B1, RMRP
49duchenne muscular dystrophy10.0NR0B1, GK
50hypogonadism10.0NR0B1, GK

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



Diseases related to metaphyseal dysplasia

Symptoms for Metaphyseal Dysplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

265900

Clinical features from OMIM:

265900

Symptoms:

49 (show all 16)
  • elbow anomalies(excluding luxation)
  • mutiple fractures/bone fragility
  • dental malocclusion
  • multiple caries
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • scoliosis
  • 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
  • genu valgum

Drugs & Therapeutics for Metaphyseal Dysplasia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Metaphyseal Dysplasia

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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33MalaCards, 14FMA
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MalaCards organs/tissues related to Metaphyseal Dysplasia:

33
Bone, Skin, Eye

FMA organs/tissues related to Metaphyseal Dysplasia:

14
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Metaphyseal Dysplasia:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7RUNX2, AIRE, GK, SBDS, COL2A1
2MP:00028738.7AIRE, SBDS, COL2A1, NKX3-2, RMRP, CDKN1C
3MP:00053918.4RUNX2, AIRE, PTHLH, COL2A1, CDKN1C
4MP:00053808.2PTH1R, SBDS, COL2A1, NKX3-2, CDKN1C
5MP:00053868.0CDKN1C, COL2A1, COL10A1, PTHLH, GK, AIRE
6MP:00053887.9RUNX2, AIRE, PTH1R, PTHLH, COL2A1, NKX3-2
7MP:00053827.9RUNX2, PTH1R, PTHLH, COL10A1, COL2A1, NKX3-2
8MP:00053847.8RUNX2, AIRE, PTHLH, SBDS, COL10A1, NKX3-2
9MP:00036317.7RUNX2, AIRE, GK, PTHLH, COL10A1, COL2A1
10MP:00053797.6RUNX2, AIRE, GK, PTHLH, SBDS, NKX3-2
11MP:00053817.5RUNX2, AIRE, PTH1R, PTHLH, SBDS, COL2A1
12MP:00053977.4RUNX2, AIRE, PTHLH, ACP5, SBDS, COL10A1
13MP:00053767.2RUNX2, AIRE, GK, PTH1R, PTHLH, SBDS
14MP:00053717.0CDKN1C, RUNX2, PTH1R, PTHLH, ACP5, COL10A1
15MP:00053876.7RUNX2, AIRE, PTHLH, ACP5, SBDS, COL10A1
16MP:00107686.5PTH1R, GK, AIRE, RUNX2, PTHLH, SBDS
17MP:00053906.5RUNX2, PTH1R, PTHLH, ACP5, SBDS, COL10A1
18MP:00053786.4PTH1R, GK, AIRE, RUNX2, PTHLH, SBDS

Publications for Metaphyseal Dysplasia

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52PubMed
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Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
An extremely rare case: osteosclerotic metaphyseal dysplasia. (23610867)
2013
2
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. (23239615)
2013
3
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. (23950054)
2013
4
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. (22791571)
2012
5
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (19016590)
2008
6
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). (15602087)
2005
7
A new syndrome of &quot;spondylo-epi-metaphyseal dysplasia: mixed type&quot;. (12589493)
2003
8
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. (13680008)
2003
9
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. (11343343)
2001
10
Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity. (10457852)
1999
11
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. (9799299)
1998
12
Major central nervous system malformation in &quot;micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects&quot;. (8986289)
1997
13
Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. (9375915)
1997
14
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. (8669445)
1996
15
Metaphyseal dysplasia-Bellini type. Report of two cases. (7754130)
1995
16
Japanese type of spondylo-metaphyseal dysplasia. (7936797)
1994
17
Indonesian type of metaphyseal dysplasia. (8402240)
1993
18
Osteosclerotic metaphyseal dysplasia. (8255649)
1993
19
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia. (1892416)
1991
20
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. (1951433)
1991
21
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? (1956063)
1991
22
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings) (1990988)
1991
23
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. (2395168)
1990
24
Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant. (2287550)
1990
25
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. (3368247)
1988
26
Cranio-metaphyseal dysplasia (report of 3 cases--two infants and one adult). (3190612)
1988
27
A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility. (3619813)
1987
28
Pyle disease (metaphyseal dysplasia). (3612703)
1987
29
Pyle's disease--familial metaphyseal dysplasia--a case report. (3619812)
1987
30
Metaphyseal dysplasia type Schmid. Early X-ray detection and evolution with time. (6881886)
1983
31
Metaphyseal dysplasia, type Schmid. (7163252)
1982
32
Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings. (7065114)
1982
33
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. (7137223)
1982
34
Communicating cartilage canals of the physis of the distal part of the ulna of growing swine and their potential role in healing of metaphyseal dysplasia of osteochondrosis. (7103184)
1982
35
Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. (6772027)
1980
36
Cranio-metaphyseal dysplasia. A case report. (7465826)
1980
37
Variability of spondylo-metaphyseal dysplasia, common type. (7244191)
1980
38
Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of &quot;new varities&quot;). (154456)
1979
39
Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers. (106833)
1978
40
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). (4464536)
1974
41
Cranial metaphyseal dysplasia. A cause of recurrent bilateral facial palsy. (4851206)
1974
42
SjAPgren-Larsson syndrome with epiphyseal-metaphyseal dysplasia. (4634106)
1973
43
Metaphyseal dysplasia with peripheral location. (5021695)
1972
44
Familial metaphyseal dysplasia. (4194833)
1970
45
Familial metaphyseal dysplasia. (4194380)
1970
46
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. (5440013)
1970
47
Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease. (6019581)
1967
48
Cranial manifestations of familial metaphyseal dysplasia. (13297995)
1956
49
Familial metaphyseal dysplasia. (13245963)
1955
50
Familial metaphyseal dysplasia. (13080520)
1953

Variations for Metaphyseal Dysplasia

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Expression for genes affiliated with Metaphyseal Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Metaphyseal Dysplasia

Search GEO for disease gene expression data for Metaphyseal Dysplasia.

Pathways for genes affiliated with Metaphyseal Dysplasia

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50PathCards, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database
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Compounds for genes affiliated with Metaphyseal Dysplasia

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1pyridinoline4510.5COL2A1
2titanium459.8ACP5, RUNX2
3procollagen459.6RUNX2, ACP5, COL2A1
4alendronate45 51 1111.6PTHLH, RUNX2
5zinc45 2410.3RUNX2, AIRE, COL2A1, NR0B1
6tartrate459.3ACP5, PTHLH
7clodronate45 51 1111.3ACP5, PTHLH
8hydroxyapatite459.1ACP5, PTHLH, RUNX2
925-hydroxyvitamin d459.1ACP5, PTHLH
10hydroxyproline45 24 1111.0PTHLH, ACP5, COL2A1
11ribonucleic acid459.0RUNX2, PTH1R, PTHLH
12cycloheximide459.0RUNX2, PTHLH, COL2A1, CDKN1C
13pyrophosphate45 2410.0COL2A1, PTHLH, RUNX2
14phosphorus458.9ACP5, PTHLH, PTH1R
15cyclic amp45 249.9RUNX2, PTH1R, PTHLH, NR0B1
16steroid458.8RUNX2, PTH1R, PTHLH, NR0B1
17calcitriol45 61 24 1111.8ACP5, PTHLH, PTH1R
181,25 dihydroxy vitamin d3458.6RUNX2, PTH1R, PTHLH, ACP5
19pge2458.6RUNX2, PTH1R, PTHLH, ACP5
20hydrogen45 249.4GK, PTH1R, PTHLH, ACP5
21serine458.3COL2A1, PTHLH, PTH1R, AIRE, RUNX2
22vitamin d458.3COL2A1, ACP5, PTHLH, PTH1R, RUNX2
23estrogen458.3RUNX2, PTH1R, PTHLH, ACP5, NR0B1
24nitric oxide45 24 1110.2COL2A1, ACP5, PTHLH, PTH1R, RUNX2
25alanine458.2RUNX2, PTH1R, PTHLH, COL2A1
26lipid458.2RUNX2, GK, PTHLH, ACP5, COL2A1
27dexamethasone45 51 29 1111.0RUNX2, PTH1R, PTHLH, ACP5, COL2A1, NR0B1
28calcium45 51 24 1110.6RUNX2, PTH1R, PTHLH, ACP5, COL2A1, MATN3

GO Terms for genes affiliated with Metaphyseal Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.2CDKN1C, NR0B1, NKX3-2, SBDS, PTHLH, PTH1R

Biological processes related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cellular response to BMP stimulusGO:07177310.1RUNX2, COL2A1
2chondrocyte differentiationGO:0020629.7COL2A1, PTH1R
3cell maturationGO:0484699.6PTH1R, RUNX2
4negative regulation of chondrocyte differentiationGO:0323319.6NKX3-2, PTHLH
5bone mineralizationGO:0302829.5SBDS, PTH1R
6bone resorptionGO:0454539.5ACP5, PTH1R
7regulation of gene expressionGO:0104689.3COL2A1, PTHLH
8extracellular matrix organizationGO:0301989.2MATN3, COL2A1, COL10A1
9adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.1PTH1R, PTHLH
10osteoblast developmentGO:0020769.1PTHLH, PTH1R, RUNX2
11endochondral ossificationGO:0019589.0RUNX2, PTHLH, COL10A1, COL2A1
12skeletal system developmentGO:0015018.1NKX3-2, MATN3, COL2A1, COL10A1, PTHLH, PTH1R

Molecular functions related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1CDKN1C, NR0B1, CRELD2, MATN3, SBDS, PTH1R

Products for genes affiliated with Metaphyseal Dysplasia

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Sources for Metaphyseal Dysplasia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet