MCID: MTP001
MIFTS: 46

Metaphyseal Dysplasia malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Metaphyseal Dysplasia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Metaphyseal Dysplasia:

Name: Metaphyseal Dysplasia 10 45 47 12
Pyle's Disease 10 45
Pyle Disease 45 51
Metaphyseal Dysplasia, Pyle Type 51
 
Metaphyseal Dysplasia Pyle Type 45
Pyle Metaphyseal Dysplasia 65
Bakwin-Krida Syndrome 10
Pyle-Cohn Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:0080019
Orphanet51 3005
ICD10 via Orphanet28 Q78.5
MESH via Orphanet37 C536252
ICD1027 Q78.5

Summaries for Metaphyseal Dysplasia

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NIH Rare Diseases:45 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's disease, is related to metaphyseal chondrodysplasia, schmid type and osteopetrosis, and has symptoms including genu valgum, mandibular prognathia and prominent supraorbital ridges. An important gene associated with Metaphyseal Dysplasia is AIRE (Autoimmune Regulator), and among its related pathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, bone and neutrophil, and related mouse phenotypes are digestive/alimentary and respiratory system.

Disease Ontology:10 An osteochondrodysplasia that results in thinning and the tendency to fracture located in bone.

Related Diseases for Metaphyseal Dysplasia

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal chondrodysplasia, schmid type30.5COL10A1, RUNX2
2osteopetrosis30.3ACP5, RUNX2
3cleidocranial dysplasia30.1COL10A1, RUNX2
4spondylo-megaepiphyseal-metaphyseal dysplasia10.7
5image syndrome10.6
6metaphyseal dysplasia without hypotrichosis10.5
7ulna metaphyseal dysplasia syndrome10.5
8metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly10.5
9intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.5
10metaphyseal dysplasia, spahr type10.5
11craniometaphyseal dysplasia10.4
12autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.4
13metaphyseal anadysplasia10.4
14mckusick type metaphyseal dysplasia10.4
15metaphyseal dysplasia maxillary hypoplasia brachydactyly10.4
16multiple joint dislocations metaphyseal dysplasia10.4
17metaphyseal dysplasia, braun-tinschert type10.4
18cartilage-hair hypoplasia10.3
19brachydactyly10.3
20schwachman diamond type metaphyseal dysplasia10.3
21dwarfism10.3
22verloes van maldergem marneffe syndrome10.3
23metaphyseal dysplasia - maxillary hypoplasia - brachydacty10.3
24craniometaphyseal dysplasia, autosomal recessive10.2
25frontometaphyseal dysplasia10.2
26metaphyseal chondrodysplasia, murk jansen type10.2
27pancreatitis10.2
28spondyloepimetaphyseal dysplasia micromelic10.2
29adrenal gland disease10.1AIRE, NR0B1
30pulmonary type ovarian small cell carcinoma10.1ACP5, RUNX2
31trypanosomiasis10.1CDKN1C, NR0B1
32spondyloepimetaphyseal dysplasia10.0
33congenital disorder of glycosylation, type iik10.0
34dyggve-melchior-clausen disease10.0
35spondyloenchondrodysplasia with immune dysregulation10.0
36codas syndrome10.0
37exocrine pancreatic insufficiency10.0
38osteochondrosis10.0
39multiple epiphyseal dysplasia10.0
40kearns-sayre syndrome10.0
41esophageal atresia10.0
42cerebritis10.0
43candidiasis10.0
44cervicitis10.0
45dysostosis10.0
46esophagitis10.0
47hypotrichosis10.0
48axial spondylometaphyseal dysplasia10.0
49fibromatosis10.0
50ichthyosis10.0

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:

 51 (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 25)
id Description Frequency HPO Source Accession
1 genu valgum hallmark (90%) HP:0002857
2 mandibular prognathia typical (50%) HP:0000303
3 prominent supraorbital ridges typical (50%) HP:0000336
4 abnormality of the ribs typical (50%) HP:0000772
5 abnormality of the clavicle typical (50%) HP:0000889
6 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
7 scoliosis typical (50%) HP:0002650
8 recurrent fractures typical (50%) HP:0002757
9 craniofacial hyperostosis typical (50%) HP:0004493
10 abnormality of the elbow typical (50%) HP:0009811
11 carious teeth occasional (7.5%) HP:0000670
12 dental malocclusion occasional (7.5%) HP:0000689
13 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
14 autosomal recessive inheritance HP:0000007
15 mandibular prognathia HP:0000303
16 carious teeth HP:0000670
17 abnormality of the thorax HP:0000765
18 platyspondyly HP:0000926
19 muscle weakness HP:0001324
20 limited elbow extension HP:0001377
21 scoliosis HP:0002650
22 thickened calvaria HP:0002684
23 arthralgia HP:0002829
24 genu valgum HP:0002857
25 metaphyseal dysplasia HP:0100255

Drugs & Therapeutics for Metaphyseal Dysplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

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:

33
Bone, Neutrophil, Skin, Eye

FMA organs/tissues related to Metaphyseal Dysplasia:

16
Bone

Animal Models for Metaphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Metaphyseal Dysplasia:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4AIRE, CDKN1C, NKX3-2, PTHLH, RUNX2
2MP:00053888.2AIRE, CDKN1C, NKX3-2, PTHLH, RUNX2
3MP:00053828.1CDKN1C, COL10A1, NKX3-2, PTHLH, RUNX2
4MP:00053897.7AIRE, CDKN1C, NR0B1, PTHLH, RUNX2
5MP:00053797.6AIRE, CDKN1C, NKX3-2, NR0B1, PTHLH, RUNX2
6MP:00036317.5AIRE, CDKN1C, COL10A1, NKX3-2, PTHLH, RUNX2
7MP:00053847.4AIRE, CDKN1C, COL10A1, MMP13, NKX3-2, PTHLH
8MP:00053907.2ACP5, CDKN1C, COL10A1, MMP13, NKX3-2, PTHLH
9MP:00053787.2AIRE, CDKN1C, COL10A1, MMP13, NKX3-2, PTHLH
10MP:00053717.2ACP5, CDKN1C, COL10A1, MMP13, NKX3-2, PTHLH
11MP:00053876.9ACP5, AIRE, CDKN1C, COL10A1, NKX3-2, PTHLH
12MP:00053976.8ACP5, AIRE, CDKN1C, COL10A1, NKX3-2, PTHLH

Publications for Metaphyseal Dysplasia

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Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 103)
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
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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Search GEO for disease gene expression data for Metaphyseal Dysplasia.

Pathways for genes affiliated with Metaphyseal Dysplasia

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Pathways related to Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CDKN1C, RUNX2
28.8MMP13, PTHLH, RUNX2
37.4CDKN1C, COL10A1, MMP13, NKX3-2, PTHLH, RUNX2

GO Terms for genes affiliated with Metaphyseal Dysplasia

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Cellular components related to Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.5COL10A1, MMP13

Biological processes related to Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1digestive system developmentGO:005512310.1CDKN1C, NKX3-2
2adrenal gland developmentGO:003032510.0CDKN1C, NR0B1
3bone morphogenesisGO:00603499.8ACP5, MMP13
4osteoblast developmentGO:00020769.7PTHLH, RUNX2
5negative regulation of chondrocyte differentiationGO:00323319.7NKX3-2, PTHLH
6skeletal system morphogenesisGO:00487059.5NKX3-2, RUNX2
7collagen catabolic processGO:00305749.5COL10A1, MMP13
8negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.5NR0B1, PTHLH
9endochondral ossificationGO:00019588.9MMP13, PTHLH, RUNX2
10skeletal system developmentGO:00015017.6CDKN1C, COL10A1, NKX3-2, PTHLH, RUNX2

Sources for Metaphyseal Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet