MCID: MTP001
MIFTS: 59

Metaphyseal Dysplasia malady

Bone diseases, Fetal diseases categories

Summaries for Metaphyseal Dysplasia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 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 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 skin, 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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

265900

Clinical synopsis from OMIM:

265900

Symptoms:

48 (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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section

Anatomical Context for Metaphyseal Dysplasia

About this section
Sources:
32MalaCards, 14FMA
See all sources

MalaCards organs/tissues related to Metaphyseal Dysplasia:

32
Bone, Skin, Eye

FMA organs/tissues related to Metaphyseal Dysplasia:

14
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Metaphyseal Dysplasia

About this section
Sources:
50PubMed
See all sources

Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
An extremely rare case: osteosclerotic metaphyseal dysplasia. (23610867)
2013
2
A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes. (18553549)
2008
3
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (19016590)
2008
4
Spondylo-epi-metaphyseal dysplasia. (18328979)
2008
5
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). (15602087)
2005
6
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
7
Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child. (15214018)
2004
8
A case with spondylo-metaphyseal dysplasia type A4. (15517830)
2004
9
A case with Pyle type metaphyseal dysplasia: clinical, radiological and histological evaluation. (14738111)
2003
10
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. (11343343)
2001
11
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the &quot;Japanese&quot; type. (10929364)
2000
12
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. (9799299)
1998
13
Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility. (9556297)
1998
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
Osteosclerotic metaphyseal dysplasia. (8255649)
1993
17
Multicentric fibromatosis with metaphyseal dysplasia. (8475296)
1993
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
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? (1956063)
1991
21
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course. (1867263)
1991
22
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. (2395168)
1990
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
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. (6499247)
1984
28
Metaphyseal dysplasia type Schmid. Early X-ray detection and evolution with time. (6881886)
1983
29
The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings. (6618893)
1983
30
Metaphyseal dysplasia, type Schmid. (7163252)
1982
31
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. (7137223)
1982
32
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
33
Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome. (7151303)
1982
34
Metaphyseal chondrodysplasia with ectodermal dysplasia. (7330659)
1981
35
Variability of spondylo-metaphyseal dysplasia, common type. (7244191)
1980
36
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. (7209574)
1980
37
Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of &quot;new varities&quot;). (154456)
1979
38
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). (4464536)
1974
39
Cranial metaphyseal dysplasia. A cause of recurrent bilateral facial palsy. (4851206)
1974
40
SjAPgren-Larsson syndrome with epiphyseal-metaphyseal dysplasia. (4634106)
1973
41
Cranial metaphyseal dysplasia. Otolaryngologic aspects. (4703537)
1973
42
Familial metaphyseal dysplasia. (4194833)
1970
43
Familial metaphyseal dysplasia. (4194380)
1970
44
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. (5440013)
1970
45
Familial metaphyseal dysplasia? (4195162)
1970
46
Metaphyseal dysplasia. Genetic and otolaryngological aspects. (5428309)
1970
47
Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia. (5673403)
1968
48
Metaphyseal dysplasia due to lead poisoning in children. (14484793)
1962
49
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development. (13217487)
1954
50
Familial metaphyseal dysplasia, Pyle's disease. (13209025)
1954

Genetic Variations for Metaphyseal Dysplasia

About this section

Expression for genes affiliated with Metaphyseal Dysplasia

About this section
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

About this section
Sources:
53Reactome, 29KEGG, 37NCBI 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
9.4PTH, 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

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
See all sources

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

About this section
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:0460589.9PTHLH, 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metaphyseal Dysplasia

About this section
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