MCID: PYL017
MIFTS: 45

Pyle Disease malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pyle Disease

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 11Disease Ontology, 13DISEASES, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 28ICD10, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pyle Disease:

Name: Pyle Disease 50 46 52
Metaphyseal Dysplasia 11 46 13 25 48
Pyle's Disease 11 46
Metaphyseal Dysplasia, Pyle Type 52
 
Metaphyseal Dysplasia Pyle Type 46
Pyle Metaphyseal Dysplasia 66
Bakwin-Krida Syndrome 11
Pyle-Cohn Syndrome 11

Characteristics:

Orphanet epidemiological data:

52
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
pyle disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 265900
Disease Ontology11 DOID:0080019
Orphanet52 ORPHA3005
ICD10 via Orphanet29 Q78.5
MESH via Orphanet38 C536252
ICD1028 Q78.5

Summaries for Pyle Disease

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NIH Rare Diseases:46 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: Pyle Disease, also known as metaphyseal dysplasia, is related to metaphyseal dysplasia without hypotrichosis and spondylo-megaepiphyseal-metaphyseal dysplasia, and has symptoms including genu valgum, mandibular prognathia and prominent supraorbital ridges. An important gene associated with Pyle Disease is SFRP4 (Secreted Frizzled Related Protein 4), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, bone and eye, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:11 An osteochondrodysplasia that results in thinning and the tendency to fracture located in bone.

Description from OMIM:50 265900

Related Diseases for Pyle Disease

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Diseases related to Pyle Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis33.7COL10A1, RMRP
2spondylo-megaepiphyseal-metaphyseal dysplasia12.3
3metaphyseal dysplasia, spahr type12.3
4metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.2
5ulna metaphyseal dysplasia syndrome12.2
6autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.1
7metaphyseal dysplasia, braun-tinschert type12.1
8intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies12.1
9microspherophakia-metaphyseal dysplasia12.1
10mckusick type metaphyseal dysplasia12.0
11metaphyseal dysplasia maxillary hypoplasia brachydactyly12.0
12shwachman-diamond type metaphyseal dysplasia11.9
13multiple joint dislocations metaphyseal dysplasia11.9
14image syndrome11.7
15metaphyseal anadysplasia11.7
16metaphyseal chondrodysplasia, schmid type11.5
17spondyloepimetaphyseal dysplasia10.9
18spondyloepimetaphyseal dysplasia, micromelic10.9
19spondylometaphyseal dysplasia, sedaghatian type10.9
20verloes van maldergem marneffe syndrome10.9
21say carpenter syndrome10.9
22craniometaphyseal dysplasia10.7
23metaphyseal chondrodysplasia, murk jansen type10.6
24frontometaphyseal dysplasia10.6
25epiphyseal dysplasia, multiple, with myopia and deafness10.4COL10A1, COL2A1
26onychotrichodysplasia and neutropenia10.3PTHLH, SFRP4
27choriocarcinoma10.2CDKN1C, NR0B1
28testicular pure germ cell tumor10.1CDKN1C, NR0B1
29laryngomalacia10.1CDKN1C, COL2A1
30angelucci's syndrome10.1AIRE, PTHLH
31metaphyseal acroscyphodysplasia10.1
32metaphyseal dysostosis, mental retardation, and conductive deafness10.1
33brachydactyly10.0
34pancreatitis10.0
35dwarfism10.0
36centrotemporal epilepsy10.0CDKN1C, NR0B1
37cartilage-hair hypoplasia10.0
38exocrine pancreatic insufficiency10.0
39osteopetrosis10.0
40osteopathia striata with pigmentary dermopathy including white forelock9.9COL2A1, PTH1R
41congenital generalized lipodystrophy9.9COL2A1, PTHLH
42craniometaphyseal dysplasia, autosomal recessive9.9
43dyggve-melchior-clausen disease9.9
44spondyloenchondrodysplasia with immune dysregulation9.9
45spondylometaphyseal dysplasia, axial9.9
46t cell deficiency9.9AIRE, PTHLH
47adenomyoma9.8PTH1R, PTHLH
48cleidocranial dysplasia9.8
49kearns-sayre syndrome9.8
50osteochondrosis9.8

Graphical network of the top 20 diseases related to Pyle Disease:



Diseases related to pyle disease

Symptoms for Pyle Disease

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Symptoms by clinical synopsis from OMIM:

265900

Clinical features from OMIM:

265900

HPO human phenotypes related to Pyle Disease:

(show all 24)
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 mandibular prognathia HP:0000303
15 carious teeth HP:0000670
16 abnormality of the thorax HP:0000765
17 platyspondyly HP:0000926
18 muscle weakness HP:0001324
19 limited elbow extension HP:0001377
20 scoliosis HP:0002650
21 thickened calvaria HP:0002684
22 arthralgia HP:0002829
23 genu valgum HP:0002857
24 metaphyseal dysplasia HP:0100255

UMLS symptoms related to Pyle Disease:


arthralgia, muscle weakness

Drugs & Therapeutics for Pyle Disease

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Drugs for Pyle Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CiclesonidePhase 374126544-47-6, 141845-82-1444033
Synonyms:
(R)-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with cyclohexanecarboxaldehyde, 21-isobutyrate
126544-47-6
141845-82-1
AC-1330
Alvesco
Alvesco (TN)
Alvesco HFA
B-9207-015
BTR-15
BTR-15K
BY-9010
BYK-20426
CID6918155
Ciclesonide
 
Ciclesonide (JAN/USAN/INN)
Ciclesonide [INN]
D01703
KS-1165
LS-186047
MolPort-005-940-705
NCGC00167972-01
Omnair
Omnaris
Omnaris HFA
Osonase
Osonide
RPR 251526
TBN-15
UNII-S59502J185
2glucocorticoidsPhase 34756
3
ZincPhase 2, Phase 121547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
4insulinPhase 2, Phase 14401
5
Insulin-glulisinePhase 2, Phase 1102207748-29-6
Synonyms:
 
Insulin Glulisine (recombinant DNA origin)
Insulin glulisine recombinant

Interventional clinical trials:

idNameStatusNCT IDPhase
1Long Term Effect of Somatropin in Subjects With Intrauterine Growth RetardationCompletedNCT01734447Phase 4
2Effects of Ciclesonide MDI 50mg/Day and 200mg/Day (Ex-Valve) Once-Daily on Growth in Children With Mild Persistent AsthmaCompletedNCT00270348Phase 3
3Intranasal Glulisine in Amnestic Mild Cognitive Impairment and Probable Mild Alzheimer's DiseaseRecruitingNCT02503501Phase 2
4Investigation of the Safety of Intranasal Glulisine in Down SyndromeRecruitingNCT02432716Phase 1
5Study of Skeletal Disorders and Short StatureCompletedNCT00001754
6Developing a COMputerised Bone Age ToolRecruitingNCT02617901
7Ultrasound Evaluation of Bone Age in Healthy ChildrenRecruitingNCT01980693

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Genetic Tests for Pyle Disease

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Genetic tests related to Pyle Disease:

id Genetic test Affiliating Genes
1 Metaphyseal Dysplasia25

Anatomical Context for Pyle Disease

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MalaCards organs/tissues related to Pyle Disease:

34
Bone, Eye

FMA organs/tissues related to Pyle Disease:

17
Bone

Animal Models for Pyle Disease or affiliated genes

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MGI Mouse Phenotypes related to Pyle Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5COL10A1, COL2A1, PTH1R, PTHLH
2MP:00053718.4COL10A1, COL2A1, PTH1R, PTHLH
3MP:00053887.8AIRE, COL2A1, PTH1R, PTHLH, SFRP4
4MP:00053817.6AIRE, COL2A1, PTH1R, PTHLH, SFRP4

Publications for Pyle Disease

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Articles related to Pyle Disease:

idTitleAuthorsYear
1
Pyle disease (metaphyseal dysplasia). (3612703)
1987
2
The radiological manifestations of metaphyseal dysplasia (Pyle disease). (465917)
1979
3
Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease). (709903)
1978
4
Roentgenography of the ear and eye in Pyle disease. (4364304)
1974

Variations for Pyle Disease

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Clinvar genetic disease variations for Pyle Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SFRP4NM_003014.3(SFRP4): c.499dupGduplicationPathogenicGRCh37Chr 7, 37954002: 37954002
2SFRP4NM_003014.3(SFRP4): c.694C> Tsingle nucleotide variantPathogenicrs755007671GRCh38Chr 7, 37912216: 37912216
3SFRP4NM_003014.3(SFRP4): c.481_487delGTACAGGdeletionPathogenicrs879253778GRCh38Chr 7, 37914412: 37914418

Expression for genes affiliated with Pyle Disease

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Search GEO for disease gene expression data for Pyle Disease.

Pathways for genes affiliated with Pyle Disease

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GO Terms for genes affiliated with Pyle Disease

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Cellular components related to Pyle Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.7COL10A1, COL2A1

Biological processes related to Pyle Disease according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:003057410.0COL10A1, COL2A1
2negative regulation of sequence-specific DNA binding transcription factor activityGO:004343310.0NR0B1, SFRP4
3cartilage developmentGO:00512169.8COL10A1, COL2A1
4endochondral ossificationGO:00019589.8COL10A1, COL2A1
5adrenal gland developmentGO:00303259.7CDKN1C, NR0B1
6osteoblast developmentGO:00020769.6PTH1R, PTHLH
7chondrocyte differentiationGO:00020629.5COL2A1, PTH1R
8adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.1PTH1R, PTHLH
9skeletal system developmentGO:00015017.7CDKN1C, COL10A1, COL2A1, PTH1R, PTHLH

Sources for Pyle Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet