PYL
MCID: PYL017
MIFTS: 45

Pyle Disease (PYL) malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pyle Disease

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Aliases & Descriptions for Pyle Disease:

Name: Pyle Disease 52 48 25 54 70
Metaphyseal Dysplasia 11 48 70 27 50 13
Pyle's Disease 11 48 25
Metaphyseal Dysplasia, Pyle Type 25 54
Pyle Metaphyseal Dysplasia 25 68
 
Pyle's Metaphyseal Dysplasia Syndrome 25
Metaphyseal Dysplasia Pyle Type 48
Bakwin-Krida Syndrome 11
Pyle-Cohn Syndrome 11
Pyl 70

Characteristics:

Orphanet epidemiological data:

54
pyle disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
pyle disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 265900
Disease Ontology11 DOID:0080019
Orphanet54 ORPHA3005
MESH via Orphanet40 C536252
ICD10 via Orphanet31 Q78.5
MedGen37 C0265294
MeSH39 D010009
ICD1030 Q78.5

Summaries for Pyle Disease

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NIH Rare Diseases:48 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 spondylo-megaepiphyseal-metaphyseal dysplasia and metaphyseal dysplasia, spahr type, and has symptoms including mandibular prognathia, carious teeth and abnormality of the thorax. 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 limbs/digits/tail and digestive/alimentary.

UniProtKB/Swiss-Prot:70 Pyle disease: A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures.

Genetics Home Reference:25 Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals.

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

Description from OMIM:52 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1spondylo-megaepiphyseal-metaphyseal dysplasia12.3
2metaphyseal dysplasia, spahr type12.3
3metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly12.2
4autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.1
5metaphyseal dysplasia without hypotrichosis12.1
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
15metaphyseal anadysplasia11.6
16craniometaphyseal dysplasia11.3
17metaphyseal chondrodysplasia, murk jansen type11.1
18spondyloepimetaphyseal dysplasia10.8
19spondyloepimetaphyseal dysplasia, micromelic10.8
20spondylometaphyseal dysplasia, sedaghatian type10.8
21say carpenter syndrome10.8
22verloes van maldergem marneffe syndrome10.8
23craniometaphyseal dysplasia, autosomal recessive10.8
24dyggve-melchior-clausen disease10.8
25spondyloenchondrodysplasia with immune dysregulation10.8
26frontometaphyseal dysplasia10.5
27anauxetic dysplasia10.2COL10A1, RMRP
28cryptophthalmos, unilateral or bilateral, isolated10.2COL10A1, COL2A1
29spondyloperipheral dysplasia10.2COL10A1, COL2A1
30orbital margin, hypoplasia of10.2COL10A1, RMRP
31arterial calcification, generalized, of infancy, 110.2COL10A1, RMRP
32cerebral palsy10.2COL10A1, COL2A1
33opthalmoplegia mental retardation lingua scrotalis10.2PTHLH, SFRP4
34neuropathy, distal hereditary motor, type iia10.1COL10A1, COL2A1
35malignant otitis externa10.1AIRE, NR0B1
36centrotemporal epilepsy10.1CDKN1C, NR0B1
37toxic encephalopathy10.1CDKN1C, NR0B1
38laryngomalacia10.1CDKN1C, COL2A1
39tick infestation10.0CDKN1C, NR0B1
40metaphyseal acroscyphodysplasia10.0
41metaphyseal dysostosis, mental retardation, and conductive deafness10.0
42opioid abuse10.0AIRE, PTHLH
43binocular vision disease10.0PTH1R, PTHLH
44waardenburg syndrome, type 4b10.0PTH1R, PTHLH
45transverse colon cancer10.0PTH1R, PTHLH
46obesity, severe bmiq99.9PTH1R, PTHLH
47brachydactyly9.9
48pancreatitis9.9
49dwarfism9.9
50pre-eclampsia9.9PTHLH, SFRP4

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



Diseases related to pyle disease

Symptoms & Phenotypes for Pyle Disease

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Symptoms by clinical synopsis from OMIM:

265900

Clinical features from OMIM:

265900

Human phenotypes related to Pyle Disease:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 mandibular prognathia64 HP:0000303
2 carious teeth64 HP:0000670
3 abnormality of the thorax64 HP:0000765
4 platyspondyly64 HP:0000926
5 muscle weakness64 HP:0001324
6 limited elbow extension64 HP:0001377
7 scoliosis64 HP:0002650
8 thickened calvaria64 HP:0002684
9 arthralgia64 HP:0002829
10 genu valgum64 HP:0002857
11 metaphyseal dysplasia64 HP:0100255

MGI Mouse Phenotypes related to Pyle Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7COL10A1, COL2A1, PTH1R, PTHLH, SFRP4
2MP:00053818.6AIRE, COL2A1, PTH1R, PTHLH, SFRP4
3MP:00053887.8AIRE, COL2A1, PTH1R, PTHLH, SFRP4

Drugs & Therapeutics for Pyle Disease

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bupivacaineapproved, investigationalPhase 412332180-92-9, 38396-39-32474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-bupivacaine
(±)-bupivacaine
1-Butyl-2',6'-pipecoloxylidide
1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide
1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
15233-43-9
2180-92-9
38396-39-3
AB00053674
AC-2096
AC1L1DRE
AC1Q5LX4
AH 250
AKOS001637202
AR-1A0242
Anekain
BPBio1_000298
BRD-A01636364-003-05-2
BSPBio_000270
BSPBio_002607
Bio-0886
Bloqueina
Bucaine
Bucaine (TN)
Bupivacaina
Bupivacaina [INN-Spanish]
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Monohydrochloride, Monohydrate
Bupivacaine [INN:BAN]
Bupivacainum
Bupivacainum [INN-Latin]
Bupivan
C07529
C18H28N2O
CBupivacaine
CHEBI:3215
CHEMBL1098
CID2474
Carbostesin
D07552
DB00297
DL-Bupivacaine
DUR-843
 
DepoBupivacaine
DivK1c_000758
EINECS 218-553-3
EINECS 253-911-2
HMS2090F12
IDI1_000758
KBio1_000758
KBio2_002004
KBio2_004572
KBio2_007140
KBio3_001827
KBioGR_001516
KBioSS_002004
KST-1A4609
L000695
LAC-43
LS-109841
LS-2222
MLS001361336
Marcaina
Marcaine
Marcaine HCL
Marcaine Spinal
MolPort-004-955-820
NCGC00178579-01
NCGC00178579-02
NINDS_000758
NSC119660
Prestwick0_000305
Prestwick1_000305
Prestwick2_000305
Prestwick3_000305
SMR000058218
SPBio_001558
SPBio_002489
Sensorcaine
Sensorcaine-MPF
Sensorcaine-MPF Spinal
Spectrum2_001589
Spectrum3_000974
Spectrum4_001098
Spectrum5_001483
Spectrum_001524
Transdur-Bupivacaine
UNII-Y8335394RO
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
racemic bupivacaine
2HormonesPhase 4, Phase 314415
3Peripheral Nervous System AgentsPhase 423689
4Central Nervous System DepressantsPhase 413403
5Anesthetics, LocalPhase 43492
6AnestheticsPhase 49596
7
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
8Anti-Allergic AgentsPhase 31522
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
10Hormone AntagonistsPhase 313180
11glucocorticoidsPhase 35103
12
ZincapprovedPhase 2, Phase 122967440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
13
Insulin-glulisineapprovedPhase 2, Phase 1106207748-29-6
Synonyms:
 
Insulin Glulisine (recombinant DNA origin)
Insulin glulisine recombinant
14Hypoglycemic AgentsPhase 2, Phase 15896
15insulinPhase 2, Phase 14646
16Insulin, Globin ZincPhase 2, Phase 14645

Interventional clinical trials:

idNameStatusNCT IDPhase
1Long Term Effect of Somatropin in Subjects With Intrauterine Growth RetardationCompletedNCT01734447Phase 4
2Phase 4, Controlled Study in Adult Subjects Undergoing Primary, 1-2 Level, Open Lumbar Spinal Fusion SurgeryRecruitingNCT03015961Phase 4
3Effects of Ciclesonide MDI 50mg/Day and 200mg/Day (Ex-Valve) Once-Daily on Growth in Children With Mild Persistent AsthmaCompletedNCT00270348Phase 3
4Intranasal Glulisine in Amnestic Mild Cognitive Impairment and Probable Mild Alzheimer's DiseaseRecruitingNCT02503501Phase 2
5Investigation of the Safety of Intranasal Glulisine in Down SyndromeRecruitingNCT02432716Phase 1
6Ultrasound Evaluation of Bone Age in Healthy ChildrenUnknown statusNCT01980693
7Study of Skeletal Disorders and Short StatureCompletedNCT00001754
8Developing a COMputerised Bone Age ToolRecruitingNCT02617901
9Rate of Atrial Fibrillation Through 12 Months in Patients With Recent Ischemic Stroke of Presumed Known OriginRecruitingNCT02700945
10Bone Age Assessment in Children Using Ultrasound Compared to Wrist X-rayNot yet recruitingNCT03123003

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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 Dysplasia27

Anatomical Context for Pyle Disease

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MalaCards organs/tissues related to Pyle Disease:

36
Bone, Eye

FMA organs/tissues related to Pyle Disease:

17
Bone

Publications for Pyle Disease

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Articles related to Pyle Disease:

idTitleAuthorsYear
1
A novel sequence variant in SFRP4 causing Pyle disease. (28100910)
2017
2
Pyle disease (metaphyseal dysplasia) presenting in two adult sisters. (27920870)
2016
3
Pyle disease (metaphyseal dysplasia). (3612703)
1987
4
The radiological manifestations of metaphyseal dysplasia (Pyle disease). (465917)
1979
5
Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease). (709903)
1978
6
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.499dupGduplicationPathogenicrs879255603GRCh37Chr 7, 37954002: 37954002
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

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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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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:004343310.3NR0B1, SFRP4
2cartilage developmentGO:005121610.3COL10A1, COL2A1
3collagen catabolic processGO:003057410.3COL10A1, COL2A1
4endochondral ossificationGO:000195810.2COL10A1, COL2A1
5adrenal gland developmentGO:003032510.1CDKN1C, NR0B1
6chondrocyte differentiationGO:00020629.8COL2A1, PTH1R
7adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.8PTH1R, PTHLH
8osteoblast developmentGO:00020769.7PTH1R, PTHLH
9skeletal system developmentGO:00015017.7CDKN1C, COL10A1, COL2A1, PTH1R, PTHLH

Sources for Pyle Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet