MCID: MTP001
MIFTS: 52

Metaphyseal Dysplasia malady

Bone, Fetal categories

Summaries for Metaphyseal Dysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 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 metaphyseal dysplasia without hypotrichosis and dwarfism, and has symptoms including genu valgum, dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia and metaphyseal anomaly. An important gene associated with Metaphyseal Dysplasia is AIRE (autoimmune regulator), and among its related pathways are Non-integrin membrane-ECM interactions and Osteoblast Signaling. The compounds pyridinoline and calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

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

Wikipedia:64 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

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 61
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

Related Diseases for Metaphyseal Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Metaphyseal Dysplasia family:

metaphyseal dysplasia without hypotrichosis metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly

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

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis30.6RMRP
2dwarfism30.3PTH1R, PTHLH, PTH, COL2A1
3cartilage-hair hypoplasia30.2RNASEH1, COL10A1, RMRP
4brachydactyly30.2COL2A1, PTH, RUNX2
5multiple epiphyseal dysplasia30.0CRELD2, MATN3
6cleidocranial dysplasia30.0RUNX2
7gestational trophoblastic neoplasm13.3CDKN1C, NR0B1
8leukemia13.3NME1, CDKN1C, ACP5, RUNX2
9macroglossia13.3CDKN1C
10spondylo-megaepiphyseal-metaphyseal dysplasia10.5
11intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.5
12ulna metaphyseal dysplasia syndrome10.5
13craniometaphyseal dysplasia10.4
14metaphyseal dysplasia maxillary hypoplasia brachydactyly10.4
15metaphyseal anadysplasia10.3
16multiple joint dislocations metaphyseal dysplasia10.3
17metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.3
18metaphyseal dysplasia, braun-tinschert type10.3
19mckusick type metaphyseal dysplasia10.2
20verloes van maldergem marneffe syndrome10.2
21osteopetrosis10.2
22exocrine pancreatic insufficiency10.2
23schmid metaphyseal chondrodysplasia10.2
24schwachman diamond type metaphyseal dysplasia10.2
25lead poisoning10.2
26autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
27kearns-sayre syndrome10.0
28esophageal atresia10.0
29spondyloepimetaphyseal dysplasia, missouri type10.0
30jansen's metaphyseal chondrodysplasia10.0
31n syndrome10.0
32autosomal recessive disease10.0
33craniometaphyseal dysplasia, autosomal dominant10.0
34esophageal atresia/tracheoesophageal fistula10.0
35say syndrome10.0
36craniometaphyseal dysplasia, autosomal recessive type10.0
37ectodermal dysplasia10.0
38tracheoesophageal fistula10.0
39fibromatosis10.0
40frontometaphyseal dysplasia10.0
41spondylometaphyseal dysplasia sedaghatian type10.0
42say carpenter syndrome10.0
43spondyloepimetaphyseal dysplasia micromelic10.0
44image syndrome10.0
45mental retardation10.0
46hypotonia10.0
47myotonia10.0
48pseudoachondroplasia10.0MATN3
49anauxetic dysplasia10.0RMRP
50blindness10.0COL2A1

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



Diseases related to metaphyseal dysplasia

Clinical Features for Metaphyseal Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

265900

Clinical synopsis from OMIM:

265900

Symptoms:

49 (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

Drugs & Therapeutics for Metaphyseal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Metaphyseal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Metaphyseal Dysplasia

Search NIH Clinical Center for Metaphyseal Dysplasia

Search CenterWatch for Metaphyseal Dysplasia

Genetic Tests for Metaphyseal Dysplasia

Anatomical Context for Metaphyseal Dysplasia

Sources:
14FMA
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FMA organs/tissues related to Metaphyseal Dysplasia:

14
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Metaphyseal Dysplasia

Sources:
51PubMed
See all sources

Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 110)
idTitleAuthorsYear
1
An extremely rare case: osteosclerotic metaphyseal dysplasia. (23610867)
2013
2
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (23290074)
2013
3
The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type. (22116201)
2012
4
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (19016590)
2008
5
Pyle metaphyseal dysplasia. (18451455)
2008
6
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. (17163530)
2007
7
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). (15602087)
2005
8
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
9
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. (15121775)
2004
10
A case with spondylo-metaphyseal dysplasia type A4. (15517830)
2004
11
Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. (12497229)
2003
12
Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity. (10457852)
1999
13
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. (10599684)
1999
14
Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility. (9556297)
1998
15
Major central nervous system malformation in &quot;micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects&quot;. (8986289)
1997
16
Metaphyseal dysplasia-Bellini type. Report of two cases. (7754130)
1995
17
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. (7607655)
1995
18
Calcium metabolism in the Jansen type of metaphyseal dysplasia. (8276022)
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
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
22
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. (1867263)
1991
23
Spondylo-metaphyseal dysplasia of Sutcliffe type. (2790429)
1989
24
Cranio-metaphyseal dysplasia (report of 3 cases--two infants and one adult). (3190612)
1988
25
A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility. (3619813)
1987
26
Pyle disease (metaphyseal dysplasia). (3612703)
1987
27
Pyle's disease--familial metaphyseal dysplasia--a case report. (3619812)
1987
28
Metaphyseal dysplasia, type Schmid. (7163252)
1982
29
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. (7137223)
1982
30
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
31
Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome. (7151303)
1982
32
Metaphyseal chondrodysplasia with ectodermal dysplasia. (7330659)
1981
33
Variability of spondylo-metaphyseal dysplasia, common type. (7244191)
1980
34
Tibia valga. A case of symmetrical metaphyseal dysplasia of the lower ends of the tibiae. (7358019)
1980
35
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. (7209574)
1980
36
Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of &quot;new varities&quot;). (154456)
1979
37
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). (4464536)
1974
38
Cranial metaphyseal dysplasia. A cause of recurrent bilateral facial palsy. (4851206)
1974
39
Cranial metaphyseal dysplasia. Otolaryngologic aspects. (4703537)
1973
40
Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia. (5085968)
1972
41
Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. (5026209)
1972
42
Familial metaphyseal dysplasia. (4194833)
1970
43
Metaphyseal dysplasia. Genetic and otolaryngological aspects. (5428309)
1970
44
Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease. (6019581)
1967
45
Metaphyseal dysplasia due to lead poisoning in children. (14484793)
1962
46
Familial metaphyseal dysplasia. (13245963)
1955
47
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development. (13217487)
1954
48
Familial metaphyseal dysplasia, Pyle's disease. (13209025)
1954
49
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. (13217486)
1954
50
Familial metaphyseal dysplasia. (13080520)
1953

Genetic Variations for Metaphyseal Dysplasia

Expression for genes affiliated with Metaphyseal Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

Pathways related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1COL2A1, COL10A1
29.8PTH, PTH1R
3
Hide members
9.5PTH1R, PTHLH, PTH
4
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.4RUNX2, PTH1R, PTH
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
8.9PTH, PTH1R, RUNX2, COL2A1, PTHLH
68.5PTH, COL10A1, COL2A1, RUNX2, NKX3-2, PTH1R

Compounds for genes affiliated with Metaphyseal Dysplasia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pyridinoline4510.0COL2A1, PTHLH, ACP5
2calcium carbonate4510.0PTHLH, PTH
3tartrate4510.0PTHLH, ACP5
4clodronate45 50 1111.9PTHLH, ACP5
525-hydroxyvitamin d459.9ACP5, PTHLH, PTH
6hydroxyapatite459.7ACP5, RUNX2, PTHLH
7pamidronate45 50 1111.7PTHLH, PTH
8alendronate45 50 1111.7PTHLH, RUNX2, PTH
9hydroxyproline45 11 2411.7PTHLH, ACP5, COL2A1, PTH
10phosphorus459.6PTH1R, PTH, PTHLH, ACP5
11procollagen459.6ACP5, RUNX2, PTH, COL2A1
12cycloheximide459.4PTH, PTHLH, RUNX2, COL2A1
13pyrophosphate45 2410.3COL2A1, NME1, PTHLH, RUNX2
14calcitriol45 60 11 2412.2PTH, PTHLH, PTH1R, ACP5, NME1
151,25 dihydroxy vitamin d3459.2PTHLH, PTH, RUNX2, PTH1R, ACP5
16creatinine459.2PTH, ACP5, PTHLH, NME1, GK
17cyclic amp45 2410.1NR0B1, PTH1R, PTH, PTHLH, RUNX2
18ribonucleic acid459.1RUNX2, PTHLH, PTH1R, PTH, NME1
19thymidine45 2410.0NME1, PTHLH, RUNX2, PTH1R, PTH
20vitamin d459.0PTHLH, ACP5, PTH1R, RUNX2, PTH, COL2A1
21steroid458.9NME1, PTH1R, PTHLH, RUNX2, NR0B1
22pge2458.8PTH, PTH1R, PTHLH, RUNX2, NME1, ACP5
23nitric oxide45 11 2410.6ACP5, PTH1R, NME1, RUNX2, PTHLH, COL2A1
24estrogen458.6PTHLH, RUNX2, NR0B1, NME1, ACP5, PTH1R
25alanine458.5COL2A1, RUNX2, RNASEH1, NME1, PTH1R, PTHLH
26dexamethasone45 50 29 1111.4RUNX2, ACP5, PTH1R, PTHLH, PTH, NR0B1
27serine458.3PTHLH, SMG1, PTH1R, NME1, AIRE, RUNX2
28tyrosine457.8RUNX2, SMG1, PTH, PTHLH, ACP5, NME1
29calcium45 50 11 2410.3PTH, PTHLH, COL2A1, RUNX2, MATN3, SMG1

GO Terms for genes affiliated with Metaphyseal Dysplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.1SMG1, NKX3-2, NR0B1, AIRE, RNASEH1, SBDS

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cAMP metabolic processGO:0460589.9PTH, PTHLH
2negative regulation of chondrocyte differentiationGO:0323319.9PTHLH, NKX3-2
3bone resorptionGO:0454539.7PTH, ACP5, PTH1R
4endochondral ossificationGO:0019589.7COL2A1, PTHLH, RUNX2
5osteoblast developmentGO:0020769.6PTHLH, PTH1R, RUNX2
6adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.6PTH, PTH1R, PTHLH
7regulation of gene expressionGO:0104689.6PTHLH, COL2A1, PTH
8cellular response to BMP stimulusGO:0717739.5RUNX2, COL2A1
9negative regulation of cell proliferationGO:0082859.5NME1, PTH1R, PTHLH
10skeletal system developmentGO:0015018.9PTH, COL10A1, COL2A1, NKX3-2, MATN3, PTH1R

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

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:0514289.8PTH, PTHLH

Products for genes affiliated with Metaphyseal Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metaphyseal Dysplasia

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