MCID: MTP001
MIFTS: 38

Metaphyseal Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Metaphyseal Dysplasia

MalaCards integrated aliases for Metaphyseal Dysplasia:

Name: Metaphyseal Dysplasia 12 54 6 15 32
Bakwin-Krida Syndrome 12
Pyle-Cohn Syndrome 12
Pyle's Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080019
ICD10 32 Q78.5

Summaries for Metaphyseal Dysplasia

Disease Ontology : 12 An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.

MalaCards based summary : Metaphyseal Dysplasia, also known as bakwin-krida syndrome, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and cartilage-hair hypoplasia. An important gene associated with Metaphyseal Dysplasia is SFRP4 (Secreted Frizzled Related Protein 4), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone, neutrophil and eye, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Wikipedia : 73 Metaphyseal dysplasia, or Pyle disease, is a disorder of the bones. It is a rare disease in which the... more...

Related Diseases for Metaphyseal Dysplasia

Diseases in the Metaphyseal Dysplasia family:

Multiple Metaphyseal Dysplasia

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 33.0 POLE NR0B1 CDKN1C
2 cartilage-hair hypoplasia 31.7 SBDS RMRP COL10A1
3 metaphyseal chondrodysplasia, jansen type 31.7 PTHLH NKX3-2
4 osteopetrosis 30.3 RUNX2 LRRK1 ACP5
5 bone resorption disease 30.2 RUNX2 PTHLH ACP5
6 cleidocranial dysplasia 29.9 RUNX2 NKX3-2 MMP13 COL10A1
7 coxa vara 29.8 MMP13 COL2A1 COL10A1
8 exostosis 29.7 MMP13 EXTL3 COL2A1
9 osteonecrosis 29.6 RUNX2 COL2A1 ACP5
10 spondyloepimetaphyseal dysplasia, strudwick type 29.6 COL2A1 COL10A1
11 multiple epiphyseal dysplasia 29.5 MATN3 COL2A1 COL10A1
12 chondrosarcoma 29.5 RUNX2 PTHLH MMP13 COL10A1
13 spondyloepimetaphyseal dysplasia 29.1 MMP13 MATN3 EXOC6B DYM COL2A1
14 scoliosis 29.1 RUNX2 MMP13 EXOC6B COL2A1 COL10A1 ACP5
15 bone disease 28.9 RUNX2 PTHLH MMP13 MATN3 COL2A1 COL10A1
16 osteochondrodysplasia 28.8 RUNX2 RMRP PTHLH NKX3-2 MMP13 MATN3
17 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 11.8
18 spondylo-megaepiphyseal-metaphyseal dysplasia 11.7
19 metaphyseal dysplasia without hypotrichosis 11.6
20 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.6
21 pyle disease 11.6
22 ulna metaphyseal dysplasia syndrome 11.5
23 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.5
24 metaphyseal dysplasia, spahr type 11.5
25 osteosclerotic metaphyseal dysplasia 11.5
26 microspherophakia-metaphyseal dysplasia 11.5
27 metaphyseal chondrodysplasia, schmid type 11.3
28 metaphyseal anadysplasia 11.3
29 shwachman-diamond syndrome 1 11.3
30 metaphyseal dysplasia, braun-tinschert type 11.2
31 spondyloepimetaphyseal dysplasia, micromelic 11.2
32 metaphyseal dysplasia, anetoderma, and optic atrophy 11.2
33 spondyloenchondrodysplasia with immune dysregulation 11.1
34 shwachman-diamond syndrome 2 11.1
35 multiple metaphyseal dysplasia 11.1
36 craniometaphyseal dysplasia, autosomal dominant 11.1
37 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type 11.1
38 metaphyseal acroscyphodysplasia 11.0
39 spondylometaphyseal dysplasia, sedaghatian type 11.0
40 say carpenter syndrome 11.0
41 spondylometaphyseal dysplasia, algerian type 11.0
42 craniometaphyseal dysplasia, autosomal recessive 11.0
43 spondylometaphyseal dysplasia, kozlowski type 11.0
44 dyggve-melchior-clausen disease 11.0
45 ghosal hematodiaphyseal dysplasia 11.0
46 spondylometaphyseal dysplasia, axial 11.0
47 anauxetic dysplasia 1 11.0
48 smith-mccort dysplasia 1 11.0
49 spondylometaphyseal dysplasia with cone-rod dystrophy 11.0
50 immunoskeletal dysplasia with neurodevelopmental abnormalities 11.0

Graphical network of the top 20 diseases related to Metaphyseal Dysplasia:



Diseases related to Metaphyseal Dysplasia

Symptoms & Phenotypes for Metaphyseal Dysplasia

MGI Mouse Phenotypes related to Metaphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 AIRE COL10A1 COL2A1 DYM EXTL3 LRRK1
2 endocrine/exocrine gland MP:0005379 10.1 AIRE COL10A1 EXTL3 LRRK1 NKX3-2 NR0B1
3 hematopoietic system MP:0005397 10.06 AIRE COL10A1 DYM LRRK1 NKX3-2 NR0B1
4 craniofacial MP:0005382 10 COL10A1 COL2A1 DYM LRRK1 NKX3-2 PTHLH
5 immune system MP:0005387 10 AIRE COL10A1 COL2A1 LRRK1 MATN3 NKX3-2
6 digestive/alimentary MP:0005381 9.98 AIRE COL2A1 NKX3-2 PTHLH RUNX2 SBDS
7 limbs/digits/tail MP:0005371 9.85 COL10A1 COL2A1 DYM LRRK1 MATN3 MMP13
8 mortality/aging MP:0010768 9.77 AIRE COL10A1 COL2A1 DYM EFL1 EXTL3
9 skeleton MP:0005390 9.4 COL10A1 COL2A1 DYM LRRK1 MATN3 MMP13

Drugs & Therapeutics for Metaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Metaphyseal Dysplasia

Genetic Tests for Metaphyseal Dysplasia

Anatomical Context for Metaphyseal Dysplasia

MalaCards organs/tissues related to Metaphyseal Dysplasia:

40
Bone, Neutrophil, Eye, Thymus, Placenta, Skin

Publications for Metaphyseal Dysplasia

Articles related to Metaphyseal Dysplasia:

(show top 50) (show all 324)
# Title Authors PMID Year
1
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. 61 6
27355534 2016
2
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. 6
33193738 2020
3
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 61 54
17701897 2007
4
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. 61 54
17163530 2007
5
Genetic disorders involving adrenal development. 54 61
17986825 2007
6
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 61 54
16252239 2005
7
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 61 54
16244706 2005
8
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. 61 54
14557425 2003
9
Spondylar dysplasia in type X collagenopathy. 61 54
11214689 2001
10
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 61 54
7607655 1995
11
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea. 61
33303724 2021
12
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia. 61
33567347 2021
13
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings. 61
33444820 2021
14
Musculoskeletal imaging manifestations of beta-thalassemia. 61
33559685 2021
15
Zebrafish model for spondylo-megaepiphyseal-metaphyseal dysplasia reveals post-embryonic roles of Nkx3.2 in the skeleton. 61
33462117 2021
16
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature. 61
33352647 2020
17
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report. 61
32755715 2020
18
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4. 61
32827718 2020
19
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. 61
33076988 2020
20
Anesthetic management for cesarean delivery for a parturient with metaphyseal dysplasia and hypophosphatemic rickets. 61
32464576 2020
21
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation. 61
32119750 2020
22
Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia. 61
32501918 2020
23
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. 61
32412173 2020
24
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M). 61
32025536 2020
25
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia. 61
32134183 2020
26
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. 61
31571209 2020
27
Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report. 61
32864499 2020
28
Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis. 61
29463445 2020
29
Wrist Joint Skeletal Changes in Children With Transfusion-Dependent Thalassemia. 61
32011549 2020
30
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations. 61
31413121 2020
31
New perspectives on the treatment of skeletal dysplasia. 61
32166011 2020
32
Metaphyseal dysplasia, Spahr type: a mimicker of rickets. 61
31413057 2019
33
Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption. 61
31239337 2019
34
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. 61
30488656 2019
35
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 61
29704686 2019
36
Analysis of CDKN1C in fetal growth restriction and pregnancy loss. 61
31497289 2019
37
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. 61
30284759 2018
38
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. 61
30503519 2018
39
Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center. 61
30308536 2018
40
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. 61
29970384 2018
41
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018
42
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. 61
29891876 2018
43
[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review]. 61
30078244 2018
44
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade. 61
29766377 2018
45
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 61
29506479 2018
46
Evaluation of AAPM Reports 204 and 220: Estimation of effective diameter, water-equivalent diameter, and ellipticity ratios for chest, abdomen, pelvis, and head CT scans. 61
29178549 2018
47
Frontal cranioplasty in fronto-metaphyseal dysplasia. 61
28619674 2017
48
Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. 61
28446799 2017
49
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. 61
28331220 2017
50
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease. 61
28090630 2017

Variations for Metaphyseal Dysplasia

ClinVar genetic disease variations for Metaphyseal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SFRP4 NM_003014.3(SFRP4):c.481_487delGTACAGG Deletion Pathogenic 242997 rs879253778 GRCh37: 7:37954014-37954020
GRCh38: 7:37914412-37914418
2 SFRP4 NM_003014.3(SFRP4):c.499dupG Duplication Pathogenic 242995 rs879255603 GRCh37: 7:37954001-37954002
GRCh38: 7:37914399-37914400
3 SFRP4 NM_003014.3(SFRP4):c.694C>T SNV Pathogenic 242996 rs755007671 GRCh37: 7:37951818-37951818
GRCh38: 7:37912216-37912216
4 SFRP4 NM_003014.4(SFRP4):c.161C>A (p.Ala54Asp) SNV Likely pathogenic 989454 GRCh37: 7:37955979-37955979
GRCh38: 7:37916377-37916377
5 SFRP4 NM_003014.4(SFRP4):c.373T>A (p.Cys125Ser) SNV Likely pathogenic 989455 GRCh37: 7:37955767-37955767
GRCh38: 7:37916165-37916165

Expression for Metaphyseal Dysplasia

Search GEO for disease gene expression data for Metaphyseal Dysplasia.

Pathways for Metaphyseal Dysplasia

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

# Super pathways Score Top Affiliating Genes
1 11.47 SBDS RMRP EFL1
2 11.36 RUNX2 PTHLH MMP13
3 10.98 RUNX2 PTHLH NKX3-2 MMP13 COL2A1 COL10A1
4 10.72 RUNX2 PTHLH MMP13

GO Terms for Metaphyseal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.26 MMP13 MATN3 COL2A1 COL10A1
2 collagen trimer GO:0005581 8.8 MMP13 COL2A1 COL10A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.71 MMP13 MATN3 COL2A1 COL10A1
2 ossification GO:0001503 9.61 RUNX2 COL2A1 ACP5
3 cartilage development GO:0051216 9.54 MMP13 MATN3 COL2A1
4 bone resorption GO:0045453 9.49 LRRK1 ACP5
5 negative regulation of chondrocyte differentiation GO:0032331 9.48 PTHLH NKX3-2
6 osteoblast development GO:0002076 9.46 RUNX2 PTHLH
7 bone mineralization GO:0030282 9.43 SBDS PTHLH MMP13
8 skeletal system morphogenesis GO:0048705 9.33 RUNX2 NKX3-2 COL2A1
9 mature ribosome assembly GO:0042256 9.32 SBDS EFL1
10 endochondral ossification GO:0001958 9.13 RUNX2 MMP13 COL2A1
11 skeletal system development GO:0001501 9.1 RUNX2 PTHLH NKX3-2 MATN3 COL2A1 COL10A1

Molecular functions related to Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 MATN3 COL2A1 COL10A1

Sources for Metaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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