MCID: MTP001
MIFTS: 48

Metaphyseal Dysplasia malady

Categories: Rare diseases, Bone diseases, Fetal diseases

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, 61The Human Phenotype Ontology
See all MalaCards 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

Characteristics:

Orphanet epidemiological data:

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


Classifications:



External Ids:

Disease Ontology10 DOID:0080019
Orphanet51 3005
ICD10 via Orphanet28 Q78.5
MESH via Orphanet37 C536252
ICD1027 Q78.5
UMLS65 C0265294

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 dysplasia with maxillary hypoplasia with or without brachydactyly and mckusick type metaphyseal dysplasia, and has symptoms including genu valgum, abnormality of the elbow and craniofacial hyperostosis. 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 prostate, and related mouse phenotypes are limbs/digits/tail and craniofacial.

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

Wikipedia:68 Metaphyseal dysplasia, also known as Pyle\'s disease,Pyle\'s syndrome, Pyle-Cohn syndrome, and... more...

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 76)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly33.4COL10A1, RUNX2
2mckusick type metaphyseal dysplasia28.5ACP5, AIRE, CDKN1C, COL10A1, MMP13, NKX3-2
3spondylo-megaepiphyseal-metaphyseal dysplasia12.3
4metaphyseal dysplasia, spahr type12.2
5metaphyseal dysplasia without hypotrichosis12.2
6ulna metaphyseal dysplasia syndrome12.1
7autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.1
8intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies12.1
9metaphyseal dysplasia, braun-tinschert type12.0
10metaphyseal dysplasia maxillary hypoplasia brachydactyly11.9
11shwachman-diamond type metaphyseal dysplasia11.9
12multiple joint dislocations metaphyseal dysplasia11.9
13metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome11.9
14image syndrome11.7
15metaphyseal anadysplasia11.7
16metaphyseal chondrodysplasia, schmid type11.5
17verloes van maldergem marneffe syndrome11.0
18spondyloepimetaphyseal dysplasia10.9
19say carpenter syndrome10.9
20spondyloepimetaphyseal dysplasia micromelic10.9
21spondylometaphyseal dysplasia sedaghatian type10.9
22craniometaphyseal dysplasia10.7
23metaphyseal chondrodysplasia, murk jansen type10.6
24frontometaphyseal dysplasia10.6
25orbital granuloma10.2AIRE, NR0B1
26epithelioid trophoblastic tumor10.2CDKN1C, NR0B1
27ehlers-danlos syndrome, musculocontractural type 210.2COL10A1, RUNX2
28acrodermatitis chronica atrophicans10.2ACP5, RUNX2
29testicular germ cell tumor non-seminomatous10.2CDKN1C, NR0B1
30bone structure disease10.1ACP5, RUNX2
31bone mineral density, low10.1CDKN1C, NR0B1
32metaphyseal acroscyphodysplasia10.1
33metaphyseal chondrodysplasia spahr type10.1
34metaphyseal dysostosis-intellectual disability-conductive deafness syndrome10.1
35brachydactyly10.0
36pancreatitis10.0
37dwarfism10.0
38chromosomal disease10.0ACP5, RUNX2
39primary hyperparathyroidism10.0AIRE, PTHLH
40cartilage-hair hypoplasia10.0
41exocrine pancreatic insufficiency10.0
42osteopetrosis10.0
43bone development disease10.0ACP5, RUNX2
44craniometaphyseal dysplasia, autosomal recessive9.9
45dyggve-melchior-clausen disease9.9
46spondyloenchondrodysplasia with immune dysregulation9.9
47axial spondylometaphyseal dysplasia9.9
48darier disease9.8COL10A1, MMP13, RUNX2
49cleidocranial dysplasia9.8
50osteochondrosis9.8

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

UMLS symptoms related to Metaphyseal Dysplasia:


muscle weakness, arthralgia

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, Prostate, Skin, Breast, Endothelial, Thyroid, Heart

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
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.0COL10A1, MMP13, NKX3-2, PTHLH, RUNX2
2MP:00053827.8COL10A1, NKX3-2, PTHLH, RUNX2
3MP:00053907.8COL10A1, MMP13, NKX3-2, PTHLH, RUNX2
4MP:00053797.6AIRE, COL10A1, NKX3-2, NR0B1, PTHLH, RUNX2
5MP:00053847.4AIRE, COL10A1, MMP13, NKX3-2, PTHLH, RUNX2

Publications for Metaphyseal Dysplasia

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Articles related to Metaphyseal Dysplasia:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. (27055475)
2016
2
An extremely rare case: osteosclerotic metaphyseal dysplasia. (23610867)
2013
3
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. (23239615)
2013
4
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. (23950054)
2013
5
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. (22791571)
2012
6
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (19016590)
2008
7
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). (15602087)
2005
8
A new syndrome of &quot;spondylo-epi-metaphyseal dysplasia: mixed type&quot;. (12589493)
2003
9
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. (13680008)
2003
10
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. (11343343)
2001
11
Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity. (10457852)
1999
12
Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia. (9799299)
1998
13
Major central nervous system malformation in &quot;micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects&quot;. (8986289)
1997
14
Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. (9375915)
1997
15
Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. (8669445)
1996
16
Metaphyseal dysplasia-Bellini type. Report of two cases. (7754130)
1995
17
Japanese type of spondylo-metaphyseal dysplasia. (7936797)
1994
18
Indonesian type of metaphyseal dysplasia. (8402240)
1993
19
Osteosclerotic metaphyseal dysplasia. (8255649)
1993
20
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia. (1892416)
1991
21
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. (1951433)
1991
22
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? (1956063)
1991
23
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
24
Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. (2395168)
1990
25
Spondylo-epiphyso-metaphyseal dysplasia: an atypical variant. (2287550)
1990
26
A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. (3368247)
1988
27
Cranio-metaphyseal dysplasia (report of 3 cases--two infants and one adult). (3190612)
1988
28
A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility. (3619813)
1987
29
Pyle disease (metaphyseal dysplasia). (3612703)
1987
30
Pyle's disease--familial metaphyseal dysplasia--a case report. (3619812)
1987
31
Metaphyseal dysplasia type Schmid. Early X-ray detection and evolution with time. (6881886)
1983
32
Metaphyseal dysplasia, type Schmid. (7163252)
1982
33
Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings. (7065114)
1982
34
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. (7137223)
1982
35
Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. (6772027)
1980
36
Cranio-metaphyseal dysplasia. A case report. (7465826)
1980
37
Variability of spondylo-metaphyseal dysplasia, common type. (7244191)
1980
38
Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of &quot;new varities&quot;). (154456)
1979
39
Complex spondylo-epi-metaphyseal dysplasia with severe platyspondyly in two brothers. (106833)
1978
40
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). (4464536)
1974
41
Cranial metaphyseal dysplasia. A cause of recurrent bilateral facial palsy. (4851206)
1974
42
SjAPgren-Larsson syndrome with epiphyseal-metaphyseal dysplasia. (4634106)
1973
43
Metaphyseal dysplasia with peripheral location. (5021695)
1972
44
Familial metaphyseal dysplasia. (4194833)
1970
45
Familial metaphyseal dysplasia. (4194380)
1970
46
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. (5440013)
1970
47
Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease. (6019581)
1967
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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GO Terms for genes affiliated with Metaphyseal Dysplasia

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:000195810.1MMP13, RUNX2
2digestive system developmentGO:005512310.0CDKN1C, NKX3-2
3skeletal system developmentGO:00015019.9CDKN1C, NKX3-2
4ossificationGO:00015039.7ACP5, RUNX2
5collagen catabolic processGO:00305749.7COL10A1, MMP13
6adrenal gland developmentGO:00303259.6CDKN1C, NR0B1
7bone morphogenesisGO:00603499.5ACP5, MMP13
8transcription from RNA polymerase II promoterGO:00063669.3AIRE, NKX3-2, RUNX2
9negative regulation of transcription from RNA polymerase II promoterGO:00001228.9CDKN1C, NKX3-2, NR0B1

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