MCID: MTP001
MIFTS: 61

Metaphyseal Dysplasia malady

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

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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 based summary: Metaphyseal Dysplasia, also known as pyle disease, is related to brachydactyly and cartilage-hair hypoplasia, 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 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 neutrophil, 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:46 265900

Aliases & Classifications for Metaphyseal Dysplasia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Metaphyseal Dysplasia, Aliases & Descriptions:

Name: 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 62
Bakwin-Krida Syndrome 8
Pyle-Cohn Syndrome 8


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0080019
OMIM46 265900
MESH via Orphanet35 C536252
ICD10 via Orphanet26 Q78.5

Related Diseases for Metaphyseal Dysplasia

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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
1brachydactyly31.0COL2A1, RUNX2
2cartilage-hair hypoplasia30.9COL10A1, RMRP
3cleidocranial dysplasia30.8RUNX2
4multiple epiphyseal dysplasia30.5CRELD2, MATN3
5dwarfism30.3COL2A1, PTHLH, PTH1R
6spondylo-megaepiphyseal-metaphyseal dysplasia10.6
7ulna metaphyseal dysplasia syndrome10.5
8omenn syndrome10.5AIRE
9synovitis10.5COL2A1
10metaphyseal dysplasia without hypotrichosis10.5
11intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.5
12spondyloepimetaphyseal dysplasia10.5MATN3
13image syndrome10.4
14craniometaphyseal dysplasia10.4
15metaphyseal anadysplasia10.4
16metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.4
17cartilage disease10.4COL10A1, COL2A1
18spondyloepimetaphyseal dysplasia, strudwick type10.4COL10A1, COL2A1
19pyridoxine-refractory autosomal recessive sideroblastic anemia10.4AIRE, NR0B1
20gestational trophoblastic neoplasm10.4CDKN1C, NR0B1
21metaphyseal dysplasia, braun-tinschert type10.3
22hyperglycerolemia10.3NR0B1, GK
23x-linked adrenal hypoplasia congenita10.3GK, NR0B1
24diastrophic dysplasia10.3MATN3, COL2A1
25schmid metaphyseal chondrodysplasia10.3
26mckusick type metaphyseal dysplasia10.3
27pancreatitis10.3
28metaphyseal dysplasia maxillary hypoplasia brachydactyly10.3
29multiple joint dislocations metaphyseal dysplasia10.3
30verloes van maldergem marneffe syndrome10.3
31paraneoplastic syndromes10.3PTHLH
32ollier disease10.3PTHLH
33adrenocortical carcinoma10.3CDKN1C, NR0B1
34schimke immunoosseous dysplasia10.3AIRE, SBDS
35adrenal cortical adenoma10.2NR0B1, CDKN1C
36achondroplasia10.2PTH1R, COL2A1
37addison's disease10.2NR0B1, GK, AIRE
38osteogenesis imperfecta10.2COL2A1, PTH1R
39exocrine pancreatic insufficiency10.2
40osteopetrosis10.2
41schwachman diamond type metaphyseal dysplasia10.2
42jansen's metaphyseal chondrodysplasia10.2
43spondyloepimetaphyseal dysplasia, missouri type10.2
44optic atrophy10.2
45frontometaphyseal dysplasia10.2
46lead poisoning10.2
47autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
48developmental disabilities10.2NR0B1, RMRP
49duchenne muscular dystrophy10.1NR0B1, GK
50hypogonadism10.1NR0B1, 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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Symptoms by clinical synopsis from OMIM:

265900

Clinical features from OMIM:

265900

Symptoms:

48 (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 27)
id Description Frequency HPO Source Accession
1 abnormality of the metaphyses hallmark (90%) HP:0000944
2 skeletal dysplasia hallmark (90%) HP:0002652
3 genu valgum hallmark (90%) HP:0002857
4 mandibular prognathia typical (50%) HP:0000303
5 prominent supraorbital ridges typical (50%) HP:0000336
6 abnormality of the ribs typical (50%) HP:0000772
7 abnormality of the clavicles typical (50%) HP:0000889
8 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
9 scoliosis typical (50%) HP:0002650
10 recurrent fractures typical (50%) HP:0002757
11 craniofacial hyperostosis typical (50%) HP:0004493
12 abnormality of the elbow typical (50%) HP:0009811
13 carious teeth occasional (7.5%) HP:0000670
14 dental malocclusion occasional (7.5%) HP:0000689
15 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
16 autosomal recessive inheritance HP:0000007
17 mandibular prognathia HP:0000303
18 carious teeth HP:0000670
19 abnormality of the thorax HP:0000765
20 platyspondyly HP:0000926
21 muscle weakness HP:0001324
22 limited elbow extension HP:0001377
23 scoliosis HP:0002650
24 thickened calvaria HP:0002684
25 arthralgia HP:0002829
26 genu valgum HP:0002857
27 metaphyseal dysplasia HP:0100255

Drugs & Therapeutics for Metaphyseal Dysplasia

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Drug clinical trials:

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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:

32
Bone, Neutrophil, Eye, Skin

FMA organs/tissues related to Metaphyseal Dysplasia:

14
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Metaphyseal Dysplasia:

36 (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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Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 101)
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
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. (9799299)
1998
11
Major central nervous system malformation in &quot;micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects&quot;. (8986289)
1997
12
Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. (9375915)
1997
13
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. (8669445)
1996
14
Metaphyseal dysplasia-Bellini type. Report of two cases. (7754130)
1995
15
Japanese type of spondylo-metaphyseal dysplasia. (7936797)
1994
16
Indonesian type of metaphyseal dysplasia. (8402240)
1993
17
Osteosclerotic metaphyseal dysplasia. (8255649)
1993
18
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia. (1892416)
1991
19
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. (1951433)
1991
20
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? (1956063)
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
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. (2395168)
1990
23
Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant. (2287550)
1990
24
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. (3368247)
1988
25
Cranio-metaphyseal dysplasia (report of 3 cases--two infants and one adult). (3190612)
1988
26
A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility. (3619813)
1987
27
Pyle disease (metaphyseal dysplasia). (3612703)
1987
28
Pyle's disease--familial metaphyseal dysplasia--a case report. (3619812)
1987
29
Metaphyseal dysplasia type Schmid. Early X-ray detection and evolution with time. (6881886)
1983
30
Metaphyseal dysplasia, type Schmid. (7163252)
1982
31
Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings. (7065114)
1982
32
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. (7137223)
1982
33
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
34
Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. (6772027)
1980
35
Cranio-metaphyseal dysplasia. A case report. (7465826)
1980
36
Variability of spondylo-metaphyseal dysplasia, common type. (7244191)
1980
37
Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of &quot;new varities&quot;). (154456)
1979
38
Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers. (106833)
1978
39
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). (4464536)
1974
40
Cranial metaphyseal dysplasia. A cause of recurrent bilateral facial palsy. (4851206)
1974
41
SjAPgren-Larsson syndrome with epiphyseal-metaphyseal dysplasia. (4634106)
1973
42
Metaphyseal dysplasia with peripheral location. (5021695)
1972
43
Familial metaphyseal dysplasia. (4194833)
1970
44
Familial metaphyseal dysplasia. (4194380)
1970
45
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. (5440013)
1970
46
Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease. (6019581)
1967
47
Metaphyseal dysplasia due to lead poisoning in children. (14484793)
1962
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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Expression patterns in normal tissues for genes affiliated with Metaphyseal Dysplasia

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Pathways for genes affiliated with Metaphyseal Dysplasia

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Compounds for genes affiliated with Metaphyseal Dysplasia

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Compounds related to Metaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1pyridinoline4410.5COL2A1
2titanium449.8ACP5, RUNX2
3procollagen449.6RUNX2, ACP5, COL2A1
4alendronate44 50 1111.6PTHLH, RUNX2
5zinc44 2410.3RUNX2, AIRE, COL2A1, NR0B1
6tartrate449.3ACP5, PTHLH
7clodronate44 50 1111.3ACP5, PTHLH
8hydroxyapatite449.1ACP5, PTHLH, RUNX2
925-hydroxyvitamin d449.1ACP5, PTHLH
10hydroxyproline44 24 1111.0PTHLH, ACP5, COL2A1
11ribonucleic acid449.0RUNX2, PTH1R, PTHLH
12cycloheximide449.0RUNX2, PTHLH, COL2A1, CDKN1C
13pyrophosphate44 2410.0COL2A1, PTHLH, RUNX2
14phosphorus448.9ACP5, PTHLH, PTH1R
15cyclic amp44 249.9RUNX2, PTH1R, PTHLH, NR0B1
16steroid448.8RUNX2, PTH1R, PTHLH, NR0B1
17calcitriol44 61 24 1111.8ACP5, PTHLH, PTH1R
181,25 dihydroxy vitamin d3448.6RUNX2, PTH1R, PTHLH, ACP5
19pge2448.6RUNX2, PTH1R, PTHLH, ACP5
20hydrogen44 249.4GK, PTH1R, PTHLH, ACP5
21serine448.3COL2A1, PTHLH, PTH1R, AIRE, RUNX2
22vitamin d448.3COL2A1, ACP5, PTHLH, PTH1R, RUNX2
23estrogen448.3RUNX2, PTH1R, PTHLH, ACP5, NR0B1
24nitric oxide44 24 1110.2COL2A1, ACP5, PTHLH, PTH1R, RUNX2
25alanine448.2RUNX2, PTH1R, PTHLH, COL2A1
26lipid448.2RUNX2, GK, PTHLH, ACP5, COL2A1
27dexamethasone44 50 28 1111.0RUNX2, PTH1R, PTHLH, ACP5, COL2A1, NR0B1
28calcium44 50 24 1110.6RUNX2, PTH1R, PTHLH, ACP5, COL2A1, MATN3

GO Terms for genes affiliated with Metaphyseal Dysplasia

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet