MCID: MTP001
MIFTS: 36

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 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 metaphyseal chondrodysplasia, jansen type. An important gene associated with Metaphyseal Dysplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), 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 : 74 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 183)
# Related Disease Score Top Affiliating Genes
1 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 34.6 POLE NR0B1 CDKN1C
2 metaphyseal chondrodysplasia, jansen type 32.8 PTHLH NKX3-2 DYM
3 spondyloepimetaphyseal dysplasia, strudwick type 31.7 COL2A1 COL10A1
4 spondyloepimetaphyseal dysplasia, matrilin-3 related 31.1 MATN3 DYM COL2A1 COL10A1
5 osteopetrosis 30.6 RUNX2 LRRK1 ACP5
6 bone resorption disease 30.4 RUNX2 PTHLH ACP5
7 cleidocranial dysplasia 30.1 RUNX2 MMP13 COL10A1
8 skeletal dysplasias 29.7 MATN3 COL2A1
9 coxa vara 29.7 MMP13 COL2A1 COL10A1
10 exostosis 29.6 MMP13 EXTL3 COL2A1
11 metatropic dysplasia 29.6 DYM COL2A1
12 osteonecrosis 29.5 RUNX2 COL2A1 ACP5
13 chondrosarcoma 29.5 RUNX2 PTHLH MMP13 COL10A1
14 scoliosis 28.4 RUNX2 MMP13 EXOC6B COL2A1 COL10A1 CDKN1C
15 bone disease 28.3 RUNX2 PTHLH MMP13 MATN3 COL2A1 COL10A1
16 odontochondrodysplasia 27.0 RUNX2 RMRP PTHLH NKX3-2 MMP13 MATN3
17 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 12.8
18 spondylo-megaepiphyseal-metaphyseal dysplasia 12.8
19 metaphyseal dysplasia, spahr type 12.7
20 metaphyseal dysplasia without hypotrichosis 12.7
21 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 12.7
22 ulna metaphyseal dysplasia syndrome 12.7
23 osteosclerotic metaphyseal dysplasia 12.7
24 microspherophakia-metaphyseal dysplasia 12.6
25 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 12.6
26 metaphyseal dysplasia, braun-tinschert type 12.5
27 metaphyseal dysplasia, anetoderma, and optic atrophy 12.4
28 multiple metaphyseal dysplasia 12.4
29 pyle disease 12.3
30 shwachman-diamond type metaphyseal dysplasia 12.2
31 metaphyseal chondrodysplasia, schmid type 12.2
32 metaphyseal anadysplasia 12.0
33 metaphyseal acroscyphodysplasia 11.7
34 spondyloepimetaphyseal dysplasia, micromelic 11.7
35 cartilage-hair hypoplasia 11.6
36 spondyloepimetaphyseal dysplasia, sponastrime type 11.5
37 craniometaphyseal dysplasia, autosomal dominant 11.5
38 spondylometaphyseal dysplasia, algerian type 11.5
39 craniometaphyseal dysplasia, autosomal recessive 11.5
40 shwachman-diamond syndrome 1 11.5
41 spondyloenchondrodysplasia with immune dysregulation 11.3
42 shwachman-diamond syndrome 2 11.3
43 spondylometaphyseal dysplasia, sedaghatian type 11.2
44 say carpenter syndrome 11.2
45 spondylometaphyseal dysplasia, kozlowski type 11.2
46 cranioectodermal dysplasia 1 11.2
47 dyggve-melchior-clausen disease 11.2
48 ghosal hematodiaphyseal dysplasia 11.2
49 spondylometaphyseal dysplasia, axial 11.2
50 anauxetic dysplasia 1 11.2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 AIRE COL10A1 COL2A1 DYM LRRK1 MATN3
2 endocrine/exocrine gland MP:0005379 10.02 AIRE COL10A1 EXTL3 LRRK1 NKX3-2 NR0B1
3 craniofacial MP:0005382 9.98 COL10A1 COL2A1 DYM LRRK1 NKX3-2 PTHLH
4 hematopoietic system MP:0005397 9.96 AIRE COL10A1 LRRK1 NKX3-2 NR0B1 POLE
5 digestive/alimentary MP:0005381 9.95 AIRE COL2A1 NKX3-2 PTHLH RUNX2 SBDS
6 immune system MP:0005387 9.93 AIRE COL10A1 COL2A1 LRRK1 MATN3 NKX3-2
7 limbs/digits/tail MP:0005371 9.65 COL10A1 COL2A1 DYM LRRK1 MATN3 MMP13
8 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, Skin, Placenta

Publications for Metaphyseal Dysplasia

Articles related to Metaphyseal Dysplasia:

(show top 50) (show all 313)
# Title Authors PMID Year
1
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. 61 54
17701897 2007
2
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. 61 54
17163530 2007
3
Genetic disorders involving adrenal development. 54 61
17986825 2007
4
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 61 54
16252239 2005
5
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. 54 61
16244706 2005
6
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. 61 54
14557425 2003
7
Spondylar dysplasia in type X collagenopathy. 61 54
11214689 2001
8
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. 54 61
7607655 1995
9
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. 61
32412173 2020
10
Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia. 61
32501918 2020
11
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M). 61
32025536 2020
12
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia. 61
32134183 2020
13
Anesthetic management for cesarean delivery for a parturient with metaphyseal dysplasia and hypophosphatemic rickets. 61
32464576 2020
14
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
15
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. 61
31571209 2020
16
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations. 61
31413121 2020
17
New perspectives on the treatment of skeletal dysplasia. 61
32166011 2020
18
Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis. 61
29463445 2020
19
Wrist Joint Skeletal Changes in Children With Transfusion-Dependent Thalassemia. 61
32011549 2020
20
Metaphyseal dysplasia, Spahr type: a mimicker of rickets. 61
31413057 2019
21
Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption. 61
31239337 2019
22
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
23
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 61
29704686 2019
24
Analysis of CDKN1C in fetal growth restriction and pregnancy loss. 61
31497289 2019
25
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. 61
30503519 2018
26
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. 61
30284759 2018
27
Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center. 61
30308536 2018
28
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. 61
29970384 2018
29
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018
30
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. 61
29891876 2018
31
[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review]. 61
30078244 2018
32
Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade. 61
29766377 2018
33
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. 61
29506479 2018
34
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
35
Frontal cranioplasty in fronto-metaphyseal dysplasia. 61
28619674 2017
36
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. 61
28331220 2017
37
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
38
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease. 61
28090630 2017
39
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. 61
27829680 2017
40
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. 61
28127940 2017
41
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings. 61
27576021 2017
42
Pyle disease (metaphyseal dysplasia) presenting in two adult sisters. 61
27920870 2016
43
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene. 61
26830278 2016
44
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. 61
27380734 2016
45
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. 61
27055475 2016
46
Metaphyseal dysplasia associated with chronic facial nerve palsy. 61
26847543 2016
47
Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis. 61
27587938 2016
48
[Multiple long bone fractures in a child with pycnodysostosis. A case report]. 61
27164353 2016
49
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. 61
27355534 2016
50
Pyle metaphyseal dysplasia in an African child: Case report and review of the literature. 61
27245543 2016

Variations for Metaphyseal Dysplasia

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 11.48 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 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.73 MMP13 MATN3 COL2A1 COL10A1
2 ossification GO:0001503 9.63 RUNX2 COL2A1 ACP5
3 cartilage development GO:0051216 9.58 MMP13 MATN3 COL2A1
4 bone resorption GO:0045453 9.51 LRRK1 ACP5
5 skeletal system morphogenesis GO:0048705 9.5 RUNX2 NKX3-2 COL2A1
6 negative regulation of chondrocyte differentiation GO:0032331 9.49 PTHLH NKX3-2
7 osteoblast development GO:0002076 9.48 RUNX2 PTHLH
8 bone mineralization GO:0030282 9.43 SBDS PTHLH MMP13
9 mature ribosome assembly GO:0042256 9.37 SBDS EFL1
10 bone morphogenesis GO:0060349 9.33 SFRP4 MMP13 ACP5
11 endochondral ossification GO:0001958 9.13 RUNX2 MMP13 COL2A1
12 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

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72 UMLS via Orphanet
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