MCID: PYL017
MIFTS: 45

Pyle Disease malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pyle Disease

About this section
Sources:
11Disease Ontology, 13DISEASES, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pyle Disease:

Name: Pyle Disease 51 47 53 69
Metaphyseal Dysplasia 11 47 69 26 49 13
Pyle's Disease 11 47
Metaphyseal Dysplasia, Pyle Type 53
Metaphyseal Dysplasia Pyle Type 47
 
Pyle Metaphyseal Dysplasia 67
Bakwin-Krida Syndrome 11
Pyle-Cohn Syndrome 11
Pyl 69

Characteristics:

Orphanet epidemiological data:

53
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
pyle disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 265900
Disease Ontology11 DOID:0080019
Orphanet53 ORPHA3005
MESH via Orphanet39 C536252
ICD10 via Orphanet30 Q78.5
MedGen36 C0265294
MeSH38 D010009
ICD1029 Q78.5

Summaries for Pyle Disease

About this section
NIH Rare Diseases:47 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.

UniProtKB/Swiss-Prot:69 Pyle disease: A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures.

Description from OMIM:51 265900

Related Diseases for Pyle Disease

About this section

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis33.6COL10A1, RMRP
2spondylo-megaepiphyseal-metaphyseal dysplasia12.3
3metaphyseal dysplasia, spahr type12.3
4metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.2
5autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.1
6intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies12.1
7ulna metaphyseal dysplasia syndrome12.0
8metaphyseal dysplasia, braun-tinschert type12.0
9microspherophakia-metaphyseal dysplasia12.0
10metaphyseal dysplasia maxillary hypoplasia brachydactyly11.8
11image syndrome11.8
12shwachman-diamond type metaphyseal dysplasia11.8
13multiple joint dislocations metaphyseal dysplasia11.8
14metaphyseal chondrodysplasia, schmid type11.6
15cartilage-hair hypoplasia11.6
16metaphyseal anadysplasia11.6
17craniometaphyseal dysplasia11.3
18metaphyseal chondrodysplasia, murk jansen type11.1
19spondyloepimetaphyseal dysplasia10.8
20spondyloepimetaphyseal dysplasia, micromelic10.8
21spondylometaphyseal dysplasia, sedaghatian type10.8
22say carpenter syndrome10.8
23verloes van maldergem marneffe syndrome10.8
24craniometaphyseal dysplasia, autosomal recessive10.8
25dyggve-melchior-clausen disease10.8
26spondyloenchondrodysplasia with immune dysregulation10.8
27frontometaphyseal dysplasia10.5
28epiphyseal dysplasia, multiple, with myopia and deafness10.3COL10A1, COL2A1
29onychotrichodysplasia and neutropenia10.3PTHLH, SFRP4
30choriocarcinoma10.1CDKN1C, NR0B1
31testicular pure germ cell tumor10.1CDKN1C, NR0B1
32laryngomalacia10.0CDKN1C, COL2A1
33angelucci's syndrome10.0AIRE, PTHLH
34metaphyseal acroscyphodysplasia10.0
35metaphyseal dysostosis, mental retardation, and conductive deafness10.0
36centrotemporal epilepsy9.9CDKN1C, NR0B1
37brachydactyly9.9
38pancreatitis9.9
39dwarfism9.9
40osteopathia striata with pigmentary dermopathy including white forelock9.9COL2A1, PTH1R
41congenital generalized lipodystrophy9.9COL2A1, PTHLH
42exocrine pancreatic insufficiency9.8
43osteopetrosis9.8
44adenomyoma9.8PTH1R, PTHLH
45t cell deficiency9.8AIRE, PTHLH
46obesity, severe bmiq99.8PTH1R, PTHLH
47echolalia9.7PTH1R, PTHLH
48small cell neuroendocrine carcinoma9.7COL10A1, PTH1R
49retroperitoneal germ cell neoplasm9.7PTH1R, PTHLH
50fryns macrocephaly9.7PTH1R, PTHLH

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



Diseases related to pyle disease

Symptoms for Pyle Disease

About this section

Symptoms by clinical synopsis from OMIM:

265900

Clinical features from OMIM:

265900

Human phenotypes related to Pyle Disease:

 63 (show all 20)
id Description HPO Frequency HPO Source Accession
1 genu valgum63 hallmark (90%) HP:0002857
2 mandibular prognathia63 typical (50%) HP:0000303
3 prominent supraorbital ridges63 typical (50%) HP:0000336
4 abnormality of the ribs63 typical (50%) HP:0000772
5 abnormality of the clavicle63 typical (50%) HP:0000889
6 abnormality of pelvic girdle bone morphology63 typical (50%) HP:0002644
7 scoliosis63 typical (50%) HP:0002650
8 recurrent fractures63 typical (50%) HP:0002757
9 craniofacial hyperostosis63 typical (50%) HP:0004493
10 abnormality of the elbow63 typical (50%) HP:0009811
11 carious teeth63 occasional (7.5%) HP:0000670
12 dental malocclusion63 occasional (7.5%) HP:0000689
13 abnormal form of the vertebral bodies63 occasional (7.5%) HP:0003312
14 abnormality of the thorax63 HP:0000765
15 platyspondyly63 HP:0000926
16 muscle weakness63 HP:0001324
17 limited elbow extension63 HP:0001377
18 thickened calvaria63 HP:0002684
19 arthralgia63 HP:0002829
20 metaphyseal dysplasia63 HP:0100255

UMLS symptoms related to Pyle Disease:


arthralgia, muscle weakness

Drugs & Therapeutics for Pyle Disease

About this section

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 4, Phase 313979
2
Ciclesonideapproved, investigationalPhase 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
3Hormone AntagonistsPhase 312778
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
5glucocorticoidsPhase 34920
6Anti-Allergic AgentsPhase 31490
7
Insulin-glulisineapprovedPhase 2, Phase 1104207748-29-6
Synonyms:
 
Insulin Glulisine (recombinant DNA origin)
Insulin glulisine recombinant
8
ZincapprovedPhase 2, Phase 122317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
9insulinPhase 2, Phase 14524
10Hypoglycemic AgentsPhase 2, Phase 15733
11Insulin, Globin ZincPhase 2, Phase 14523

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
5Ultrasound Evaluation of Bone Age in Healthy ChildrenUnknown statusNCT01980693
6Study of Skeletal Disorders and Short StatureCompletedNCT00001754
7Developing a COMputerised Bone Age ToolRecruitingNCT02617901

Search NIH Clinical Center for Pyle Disease

Genetic Tests for Pyle Disease

About this section

Genetic tests related to Pyle Disease:

id Genetic test Affiliating Genes
1 Metaphyseal Dysplasia26

Anatomical Context for Pyle Disease

About this section

MalaCards organs/tissues related to Pyle Disease:

35
Bone, Eye

FMA organs/tissues related to Pyle Disease:

17
Bone

Animal Models for Pyle Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Pyle Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL10A1, COL2A1, PTH1R, PTHLH
2MP:00053719.0COL10A1, COL2A1, PTH1R, PTHLH
3MP:00053818.6AIRE, COL2A1, PTH1R, PTHLH, SFRP4
4MP:00053887.8AIRE, COL2A1, PTH1R, PTHLH, SFRP4

Publications for Pyle Disease

About this section

Articles related to Pyle Disease:

idTitleAuthorsYear
1
Pyle disease (metaphyseal dysplasia) presenting in two adult sisters. (27920870)
2016
2
Pyle disease (metaphyseal dysplasia). (3612703)
1987
3
The radiological manifestations of metaphyseal dysplasia (Pyle disease). (465917)
1979
4
Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease). (709903)
1978
5
Roentgenography of the ear and eye in Pyle disease. (4364304)
1974

Variations for Pyle Disease

About this section

Clinvar genetic disease variations for Pyle Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SFRP4NM_003014.3(SFRP4): c.499dupGduplicationPathogenicrs879255603GRCh38Chr 7, 37914400: 37914400
2SFRP4NM_003014.3(SFRP4): c.694C> TSNVPathogenicrs755007671GRCh37Chr 7, 37951818: 37951818
3SFRP4NM_003014.3(SFRP4): c.481_487delGTACAGGdeletionPathogenicrs879253778GRCh38Chr 7, 37914412: 37914418

Expression for genes affiliated with Pyle Disease

About this section
Search GEO for disease gene expression data for Pyle Disease.

Pathways for genes affiliated with Pyle Disease

About this section

GO Terms for genes affiliated with Pyle Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.6COL10A1, COL2A1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequence-specific DNA binding transcription factor activityGO:00434339.9NR0B1, SFRP4
2collagen catabolic processGO:00305749.9COL10A1, COL2A1
3cartilage developmentGO:00512169.8COL10A1, COL2A1
4endochondral ossificationGO:00019589.8COL10A1, COL2A1
5osteoblast developmentGO:00020769.6PTH1R, PTHLH
6adrenal gland developmentGO:00303259.6CDKN1C, NR0B1
7chondrocyte differentiationGO:00020629.5COL2A1, PTH1R
8adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.1PTH1R, PTHLH
9skeletal system developmentGO:00015017.6CDKN1C, COL10A1, COL2A1, PTH1R, PTHLH

Sources for Pyle Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet