MCID: MTP001
MIFTS: 59

Metaphyseal Dysplasia malady

Bone diseases, Fetal diseases categories

Summaries for Metaphyseal Dysplasia

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 metaphyseal anomaly, anomalies of the ribs and mutiple fractures/bone fragility. 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, bone and eye, 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:63 Metaphyseal dysplasia, also known as Pyle\'s disease,Pyle\'s syndrome, Pyle-Cohn syndrome, and... more...

Description from OMIM:46 265900

Aliases & Classifications for Metaphyseal Dysplasia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

metaphyseal dysplasia 8 42 10 44
pyle disease 42 48 46
pyle's disease 8 42
metaphyseal dysplasia, pyle type 48
metaphyseal dysplasia pyle type 42
pyle metaphyseal dysplasia 60
bakwin-krida syndrome 8
pyle-cohn syndrome 8


External Ids:

Disease Ontology8 DOID:0080019
OMIM46 265900
MESH via Orphanet35 C536252
ICD10 via Orphanet26 Q78.5
SNOMED-CT via Orphanet57 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis30.5RMRP
2dwarfism30.3COL2A1, PTH1R, PTHLH, PTH
3cartilage-hair hypoplasia30.2RMRP, RNASEH1, COL10A1
4brachydactyly30.2PTH, RUNX2, COL2A1
5multiple epiphyseal dysplasia29.9CRELD2, MATN3
6cleidocranial dysplasia29.9RUNX2
7gestational trophoblastic neoplasm13.3CDKN1C, NR0B1
8leukemia13.3RUNX2, CDKN1C, NME1, ACP5
9macroglossia13.3CDKN1C
10ulna metaphyseal dysplasia syndrome10.5
11intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.5
12spondylo-megaepiphyseal-metaphyseal dysplasia10.4
13craniometaphyseal dysplasia10.3
14metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.3
15metaphyseal dysplasia, braun-tinschert type10.3
16schmid metaphyseal chondrodysplasia10.2
17mckusick type metaphyseal dysplasia10.2
18pancreatitis10.2
19verloes van maldergem marneffe syndrome10.2
20metaphyseal dysplasia maxillary hypoplasia brachydactyly10.2
21multiple joint dislocations metaphyseal dysplasia10.2
22osteopetrosis10.1
23exocrine pancreatic insufficiency10.1
24spondyloepimetaphyseal dysplasia, missouri type10.1
25jansen's metaphyseal chondrodysplasia10.1
26schwachman diamond type metaphyseal dysplasia10.1
27optic atrophy10.1
28image syndrome10.1
29metaphyseal anadysplasia10.1
30autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.1
31cerebritis10.0
32kearns-sayre syndrome10.0
33esophageal atresia10.0
34autosomal recessive disease10.0
35candidiasis10.0
36cervicitis10.0
37connective tissue disease10.0
38dysostosis10.0
39esophagitis10.0
40hypotrichosis10.0
41osteochondrosis10.0
42craniometaphyseal dysplasia, autosomal dominant10.0
43metaphyseal acroscyphodysplasia10.0
44craniometaphyseal dysplasia, autosomal recessive type10.0
45frontometaphyseal dysplasia10.0
46spondylometaphyseal dysplasia sedaghatian type10.0
47metaphyseal chondrodysplasia spahr type10.0
48say carpenter syndrome10.0
49spondyloepimetaphyseal dysplasia micromelic10.0
50metaphyseal dysostosis - intellectual deficit - conductive deafness10.0

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



Diseases related to metaphyseal dysplasia

Clinical Features for Metaphyseal Dysplasia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

265900

Clinical synopsis from OMIM:

265900

Symptoms:

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

Drugs & Therapeutics for Metaphyseal Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Metaphyseal Dysplasia

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Metaphyseal Dysplasia:

32
Bone, Eye, Skin

FMA organs/tissues related to Metaphyseal Dysplasia:

14
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

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Sources:
36MGI
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Publications for Metaphyseal Dysplasia

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Sources:
50PubMed
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Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. (23290074)
2013
2
The &quot;old theme&quot; of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with (&quot;San Diego&quot; variant) and without ragged metaphyses due to the same FGFR3 mutation. (24038754)
2013
3
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. (22791571)
2012
4
The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type. (22116201)
2012
5
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (19016590)
2008
6
Pyle metaphyseal dysplasia. (18451455)
2008
7
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. (17163530)
2007
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 new syndrome of &quot;spondylo-epi-metaphyseal dysplasia: mixed type&quot;. (12589493)
2003
11
Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. (12497229)
2003
12
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. (14557425)
2003
13
Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity. (10457852)
1999
14
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. (10599684)
1999
15
Major central nervous system malformation in &quot;micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects&quot;. (8986289)
1997
16
Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. (9375915)
1997
17
Intracranial calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report. (9339870)
1997
18
Dutch variant of Bellini metaphyseal dysplasia: report of two siblings. (7487766)
1995
19
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. (7607655)
1995
20
Indonesian type of metaphyseal dysplasia. (8402240)
1993
21
A new syndrome of multiple joint dislocations with metaphyseal dysplasia. (7506968)
1993
22
A case of Kearns-Sayre syndrome with metaphyseal dysplasia. (8516029)
1993
23
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia. (1892416)
1991
24
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. (1951433)
1991
25
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
26
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. (1867263)
1991
27
Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant. (2287550)
1990
28
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. (2277385)
1990
29
Craniofacial dysostosis (Crouzon's disease) associated with metaphyseal dysplasia (Pyle's disease) in the same subject. A roentgenologic study. (2633110)
1989
30
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. (3368247)
1988
31
Pyle's disease--familial metaphyseal dysplasia--a case report. (3619812)
1987
32
Unusual bone dysplasia featuring severe platyspondyly and vertebral &quot;coronal cleft&quot; in infancy, and changes of metaphyseal chondrodysplasia in childhood. (3748653)
1986
33
Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia. (3925497)
1985
34
Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings. (7065114)
1982
35
The radiological appearances of familial metaphyseal dysplasia. (7083743)
1982
36
Metaphyseal chondrodysplasia with ectodermal dysplasia. (7330659)
1981
37
Tibia valga. A case of symmetrical metaphyseal dysplasia of the lower ends of the tibiae. (7358019)
1980
38
The radiological manifestations of metaphyseal dysplasia (Pyle disease). (465917)
1979
39
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). (4464536)
1974
40
Metaphyseal dysplasia with peripheral location. (5021695)
1972
41
Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia. (5085968)
1972
42
Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. (5026209)
1972
43
Familial metaphyseal dysplasia. (4194833)
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
Familial metaphyseal dysplasia, Pyle's disease. (13209025)
1954
48
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
49
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. III. Progressive diaphyseal dysplasia. (13217488)
1954
50
Familial metaphyseal dysplasia. (13080520)
1953

Genetic Variations for Metaphyseal Dysplasia

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Expression for genes affiliated with Metaphyseal Dysplasia

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1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore
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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
9.4PTH, PTH1R, RUNX2
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
8.9COL2A1, RUNX2, PTH1R, PTHLH, PTH
68.5PTH, COL10A1, COL2A1, RUNX2, NKX3-2, PTH1R

Compounds for genes affiliated with Metaphyseal Dysplasia

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pyridinoline4410.0COL2A1, ACP5, PTHLH
2calcium carbonate4410.0PTH, PTHLH
3tartrate4410.0ACP5, PTHLH
4clodronate44 49 1111.9PTHLH, ACP5
525-hydroxyvitamin d449.9ACP5, PTHLH, PTH
6hydroxyapatite449.7RUNX2, ACP5, PTHLH
7pamidronate44 49 1111.7PTH, PTHLH
8alendronate44 49 1111.7PTH, PTHLH, RUNX2
9hydroxyproline44 11 2411.7COL2A1, ACP5, PTHLH, PTH
10phosphorus449.6PTH, PTHLH, PTH1R, ACP5
11procollagen449.6COL2A1, RUNX2, ACP5, PTH
12cycloheximide449.4COL2A1, RUNX2, PTHLH, PTH
13pyrophosphate44 2410.3COL2A1, RUNX2, NME1, PTHLH
14calcitriol44 59 11 2412.2NME1, ACP5, PTH1R, PTHLH, PTH
151,25 dihydroxy vitamin d3449.2RUNX2, ACP5, PTH1R, PTHLH, PTH
16creatinine449.2PTH, PTHLH, ACP5, NME1, GK
17cyclic amp44 2410.1PTH, PTHLH, PTH1R, NR0B1, RUNX2
18ribonucleic acid449.1RUNX2, NME1, PTH1R, PTHLH, PTH
19thymidine44 2410.0PTH, PTHLH, PTH1R, NME1, RUNX2
20vitamin d449.0COL2A1, RUNX2, ACP5, PTH1R, PTHLH, PTH
21steroid448.9RUNX2, NR0B1, NME1, PTH1R, PTHLH
22pge2448.8RUNX2, NME1, ACP5, PTH1R, PTHLH, PTH
23nitric oxide44 11 2410.6COL2A1, RUNX2, NME1, ACP5, PTH1R, PTHLH
24estrogen448.6RUNX2, NR0B1, NME1, ACP5, PTH1R, PTHLH
25alanine448.5COL2A1, RUNX2, RNASEH1, NME1, PTH1R, PTHLH
26dexamethasone44 49 28 1111.4PTH, COL2A1, RUNX2, NR0B1, NME1, ACP5
27serine448.3COL2A1, RUNX2, AIRE, NME1, PTH1R, PTHLH
28tyrosine447.8RUNX2, AIRE, NME1, ACP5, PTHLH, PTH
29calcium44 49 11 2410.3COL2A1, RUNX2, MATN3, NME1, ACP5, PTH2

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:0056347.1SMG1, 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:0460589.9PTHLH, PTH
2negative regulation of chondrocyte differentiationGO:0323319.9NKX3-2, PTHLH
3bone resorptionGO:0454539.7PTH, PTH1R, ACP5
4endochondral ossificationGO:0019589.7PTHLH, RUNX2, COL2A1
5osteoblast developmentGO:0020769.6RUNX2, PTH1R, PTHLH
6adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.6PTH1R, PTHLH, PTH
7regulation of gene expressionGO:0104689.6PTH, PTHLH, COL2A1
8cellular response to BMP stimulusGO:0717739.5RUNX2, COL2A1
9negative regulation of cell proliferationGO:0082859.5PTHLH, PTH1R, NME1
10skeletal system developmentGO:0015018.9PTH, PTHLH, PTH1R, MATN3, NKX3-2, COL2A1

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

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Sources for Metaphyseal Dysplasia

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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