Metaphyseal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Disease Ontology: ¹¹ 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 Mesenchymal Stem Cells and Lineage-specific Markers and Endochondral ossification. Affiliated tissues include bone, neutrophil and thymus, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia: ⁷⁵ Metaphyseal dysplasia, or Pyle disease, is a disorder of the bones. It is a rare disease in which the... more...

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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 245)

#	Related Disease	Score	Top Affiliating Genes
1	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	33.1	POLE NR0B1 CDKN1C
2	cartilage-hair hypoplasia	31.9	SBDS RMRP COL10A1
3	anauxetic dysplasia 1	31.8	SBDS RMRP EFL1
4	metaphyseal chondrodysplasia, jansen type	31.7	PTHLH PTH1R PTH
5	osteopetrosis	30.7	RUNX2 LRRK1 ACP5
6	coxa vara	30.6	MMP13 COL2A1 COL10A1
7	endosteal hyperostosis, autosomal dominant	30.5	SFRP4 PTH ACP5
8	brachydactyly	30.4	RUNX2 PTHLH PTH COL2A1
9	cartilage disease	30.3	RUNX2 MMP13 COL2A1 COL10A1
10	spondyloepimetaphyseal dysplasia, strudwick type	30.2	PTH1R COL2A1 COL10A1
11	scoliosis	30.1	RUNX2 MMP13 COL2A1 COL10A1 CDKN1C ACP5
12	spondylometaphyseal dysplasia, corner fracture type	30.0	EFL1 COL2A1
13	hypophosphatasia	30.0	SFRP4 RUNX2 PTH
14	osteochondrosis	30.0	PTH MMP13 COL2A1
15	metatropic dysplasia	30.0	RUNX2 COL2A1
16	spondyloepimetaphyseal dysplasia	30.0	RMRP MMP13 DYM COL2A1
17	craniosynostosis	30.0	RUNX2 EXTL3 COL2A1 CDKN1C
18	osteoarthritis	29.9	RUNX2 MMP13 COL2A1 COL10A1
19	chondrosarcoma	29.9	RUNX2 PTHLH MMP13 COL10A1
20	cleidocranial dysplasia 1	29.8	RUNX2 PTHLH PTH1R NKX3-2 MMP13 COL2A1
21	exostosis	29.8	RUNX2 PTHLH MMP13 EXTL3 COL2A1
22	bone disease	29.7	RUNX2 PTHLH PTH1R PTH MMP13 COL2A1
23	primary hyperparathyroidism	29.7	PTHLH PTH1R PTH ACP5
24	hyperparathyroidism	29.7	PTHLH PTH1R PTH ACP5
25	osteonecrosis	29.6	RUNX2 PTH1R PTH COL2A1 ACP5
26	enchondromatosis, multiple, ollier type	29.2	RUNX2 PTHLH PTH1R PTH MMP13 COL2A1
27	osteochondrodysplasia	29.1	SFRP4 SBDS RUNX2 RMRP PTHLH PTH1R
28	metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	11.8
29	pyle disease	11.8
30	spondylo-megaepiphyseal-metaphyseal dysplasia	11.7
31	osteosclerotic metaphyseal dysplasia	11.6
32	metaphyseal dysplasia without hypotrichosis	11.6
33	ulna metaphyseal dysplasia syndrome	11.6
34	microspherophakia-metaphyseal dysplasia	11.6
35	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	11.6
36	metaphyseal anadysplasia	11.6
37	metaphyseal dysplasia, spahr type	11.6
38	autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	11.5
39	metaphyseal dysplasia, braun-tinschert type	11.5
40	metaphyseal chondrodysplasia, schmid type	11.4
41	shwachman-diamond syndrome 1	11.4
42	spondylometaphyseal dysplasia, algerian type	11.3
43	spondyloepimetaphyseal dysplasia, micromelic	11.2
44	metaphyseal dysplasia, anetoderma, and optic atrophy	11.2
45	metaphyseal acroscyphodysplasia	11.2
46	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	11.2
47	dyggve-melchior-clausen disease	11.1
48	metaphyseal chondrodysplasia, kaitila type	11.1
49	spondylometaphyseal dysplasia, axial	11.1
50	smith-mccort dysplasia 1	11.1

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

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Symptoms & Phenotypes for Metaphyseal Dysplasia

GenomeRNAi Phenotypes related to Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.88	ACP5 AIRE CDKN1C COL10A1 COL2A1 DYM
2	no effect	GR00402-S-2	9.88	ACP5 AIRE CDKN1C COL2A1 DYM EFL1

MGI Mouse Phenotypes related to Metaphyseal Dysplasia:

⁴⁵ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.37	AIRE CDKN1C COL10A1 COL2A1 DYM EXTL3
2	homeostasis/metabolism	MP:0005376	10.36	AIRE CDKN1C COL2A1 DYM EXTL3 LRRK1
3	limbs/digits/tail	MP:0005371	10.34	ACP5 CDKN1C COL10A1 COL2A1 DYM LRRK1
4	endocrine/exocrine gland	MP:0005379	10.29	AIRE CDKN1C COL10A1 DYM EXTL3 NKX3-2
5	immune system	MP:0005387	10.24	ACP5 AIRE CDKN1C COL10A1 COL2A1 EXTL3
6	cellular	MP:0005384	10.18	CDKN1C COL10A1 COL2A1 DYM EXTL3 MMP13
7	craniofacial	MP:0005382	10.13	CDKN1C COL10A1 COL2A1 DYM LRRK1 NKX3-2
8	skeleton	MP:0005390	10.13	ACP5 CDKN1C COL10A1 COL2A1 DYM LRRK1
9	digestive/alimentary	MP:0005381	10.11	AIRE CDKN1C COL2A1 NKX3-2 PTH1R PTHLH
10	liver/biliary system	MP:0005370	10.08	AIRE COL2A1 EXTL3 PTH1R PTHLH RUNX2
11	respiratory system	MP:0005388	9.92	AIRE CDKN1C COL2A1 NKX3-2 PTH1R PTHLH
12	hematopoietic system	MP:0005397	9.86	ACP5 AIRE CDKN1C COL10A1 DYM EXTL3
13	vision/eye	MP:0005391	9.81	AIRE CDKN1C COL2A1 EXTL3 LRRK1 PTH
14	mortality/aging	MP:0010768	9.55	AIRE CDKN1C COL10A1 COL2A1 DYM EFL1

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Drugs & Therapeutics for Metaphyseal Dysplasia

Search Clinical Trials, NIH Clinical Center for Metaphyseal Dysplasia

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Genetic Tests for Metaphyseal Dysplasia

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Anatomical Context for Metaphyseal Dysplasia

Organs/tissues related to Metaphyseal Dysplasia:

MalaCards : Bone, Neutrophil, Thymus, Placenta, Eye, Skin

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Publications for Metaphyseal Dysplasia

Articles related to Metaphyseal Dysplasia:

(show top 50) (show all 343)

#	Title	Authors	PMID	Year
1	Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. ⁶² ⁵	Kiper POS...Baron R	27355534	2016
2	The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. ⁵	Sowinska-Seidler A...Jamsheer A	33193738	2020
3	Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. ⁵³ ⁶²	Thiel CT...Rauch A	17701897	2007
4	COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. ⁵³ ⁶²	Walter K...Unger S	17163530	2007
5	Genetic disorders involving adrenal development. ⁵³ ⁶²	Lin L...Achermann JC	17986825	2007
6	Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. ⁵³ ⁶²	Thiel CT...Rauch A	16252239	2005
7	Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. ⁵³ ⁶²	Bonafe L...Reymond A	16244706	2005
8	Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. ⁵³ ⁶²	Harris M...Walker J	14557425	2003
9	Spondylar dysplasia in type X collagenopathy. ⁵³ ⁶²	Nishimura G...Ikegawa S	11214689	2001
10	Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. ⁵³ ⁶²	Bonaventure J...Maroteaux P	7607655	1995
11	Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. ⁶²	Tuysuz B...Vural M	36400164	2022
12	Phenotypic continuum between POLE-related recessive disorders: A case report and literature review. ⁶²	Roberts ME...Juusola J	35860951	2022
13	A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia. ⁶²	Elhossini RM...Aglan M	36097642	2022
14	PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain. ⁶²	Malik AU...Alessi DR	36040231	2022
15	Craniofacial, dental, and molecular features of Pyle disease in a South African child. ⁶²	Chetty M...Wonkam A	36138002	2022
16	Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. ⁶²	Simsek-Kiper PO...Girisha KM	36150098	2022
17	Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia. ⁶²	van de Kamp JM...Finken MJJ	36175384	2022
18	A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. ⁶²	Franceschi R...Maines E	35670300	2022
19	Torticollis in Connection with Spine Phenotype. ⁶²	Al Kaissi A...Ryabykh S	35885576	2022
20	Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature. ⁶²	Chundoo S...McMillan K	35550322	2022
21	Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates. ⁶²	Ulusaloglu AC...Mackenzie WG	35051956	2022
22	Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2. ⁶²	Cheng L...Duan J	36035187	2022
23	Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia. ⁶²	Lv S...Zhang Z	36118854	2022
24	Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report. ⁶²	Del Borrello G...Dufour C	35663969	2022
25	Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity. ⁶²	Chorin O...Raas-Rothschild A	34798323	2022
26	Differential diagnosis of a diffuse sclerosis in an identified male skull (early 20th century Coimbra, Portugal): A multimethodological approach for the identification of osteosclerotic dysplasias in skeletonized individuals. ⁶²	Magalhaes BM...Santos AL	34243133	2021
27	Musculoskeletal imaging manifestations of beta-thalassemia. ⁶²	Hajimoradi M...Chalian M	33559685	2021
28	A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma. ⁶²	Bolomiti M...Januszkiewicz-Lewandowska D	34098225	2021
29	Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report. ⁶²	Li S...He W	33955509	2021
30	Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings. ⁶²	Tuysuz B...Kafadar A	34000439	2021
31	Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea. ⁶²	Namgoong H...Oh JH	33303724	2021
32	Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia. ⁶²	Hall CM...Mansour S	33567347	2021
33	Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings. ⁶²	Lugli L...Iughetti L	33444820	2021
34	Zebrafish model for spondylo-megaepiphyseal-metaphyseal dysplasia reveals post-embryonic roles of Nkx3.2 in the skeleton. ⁶²	Smeeton J...Crump JG	33462117	2021
35	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. ⁶²	Cinque L...Guarnieri V	33352647	2020
36	Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4. ⁶²	Fedida A...Falik-Zaccai TC	32827718	2020
37	UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report. ⁶²	Zhang G...Wang Y	32755715	2020
38	Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. ⁶²	Binder G...Eggermann T	33076988	2020
39	Anesthetic management for cesarean delivery for a parturient with metaphyseal dysplasia and hypophosphatemic rickets. ⁶²	Kennedy JP...Hasham F	32464576	2020
40	Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia. ⁶²	Dhawan P...Gupta S	32501918	2020
41	Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation. ⁶²	Howaldt A...Kornak U	32119750	2020
42	Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. ⁶²	Yamada M...Kosaki K	32412173	2020
43	Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M). ⁶²	Das L...Bhadada SK	32025536	2020
44	The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia. ⁶²	Abdulhadi-Atwan M...Zangen D	32134183	2020
45	Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report. ⁶²	Chiba T...Taneichi H	32864499	2020
46	'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations. ⁶²	Vakkilainen S...Makitie O	31413121	2020
47	A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. ⁶²	Miryounesi M...Rokni-Zadeh H	31571209	2020
48	New perspectives on the treatment of skeletal dysplasia. ⁶²	Marzin P...Cormier-Daire V	32166011	2020
49	Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis. ⁶²	Arboleya L...Ballina J	29463445	2020
50	Metaphyseal dysplasia, Spahr type: a mimicker of rickets. ⁶²	Balasubramaniyan M...Gopinathan NR	31413057	2019

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Genes for Metaphyseal Dysplasia

Genes related to Metaphyseal Dysplasia (1 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SFRP4	Secreted Frizzled Related Protein 4	Protein Coding	431.75	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	27355534 33193738
2	RMRP	RNA Component Of Mitochondrial RNA Processing Endoribonuclease	RNA Gene	25.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16244706 16252239 17701897
3	NKX3-2	NK3 Homeobox 2	Protein Coding	23.46	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	LRRK1	Leucine Rich Repeat Kinase 1	Protein Coding	23.45	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	21.83	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	MMP13	Matrix Metallopeptidase 13	Protein Coding	21.49	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
7	AIRE	Autoimmune Regulator	Protein Coding	20.99	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	14557425
8	EXTL3	Exostosin Like Glycosyltransferase 3	Protein Coding	20.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
9	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	17.69	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11214689 7607655
10	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	14.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17986825
11	CDKN1C	Cyclin Dependent Kinase Inhibitor 1C	Protein Coding	14.27	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
12	SBDS	SBDS Ribosome Maturation Factor	Protein Coding	13.07	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
13	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	12.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17163530
14	DYM	Dymeclin	Protein Coding	12.82	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
15	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	12.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
16	EFL1	Elongation Factor Like GTPase 1	Protein Coding	12.23	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
17	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	11.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
18	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	7.29	DISEASES inferred ¹⁴
19	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	6.72	DISEASES inferred ¹⁴
20	PTH	Parathyroid Hormone	Protein Coding	6.57	DISEASES inferred ¹⁴
21	RNU4ATAC	RNA, U4atac Small Nuclear	RNA Gene	6.41	DISEASES inferred ¹⁴ ¹⁴
22	FGF23	Fibroblast Growth Factor 23	Protein Coding	6.12	DISEASES inferred ¹⁴
23	PHEX	Phosphate Regulating Endopeptidase X-Linked	Protein Coding	5.76	DISEASES inferred ¹⁴
24	SAMD9	Sterile Alpha Motif Domain Containing 9	Protein Coding	5.67	DISEASES inferred ¹⁴
25	SOST	Sclerostin	Protein Coding	5.56	DISEASES inferred ¹⁴
26	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	5.54	DISEASES inferred ¹⁴

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Variations for Metaphyseal Dysplasia

ClinVar genetic disease variations for Metaphyseal Dysplasia:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SFRP4	NM_003014.4(SFRP4):c.481_487del (p.Val161fs)	DEL	Pathogenic	242997	rs879253778	GRCh37: 7:37954014-37954020 GRCh38: 7:37914412-37914418
2	SFRP4	NM_003014.4(SFRP4):c.499dup (p.Asp167fs)	DUP	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	rs758308395	GRCh37: 7:37955979-37955979 GRCh38: 7:37916377-37916377
5	SFRP4	NM_003014.4(SFRP4):c.373T>A (p.Cys125Ser)	SNV	Likely Pathogenic	989455	rs1344808304	GRCh37: 7:37955767-37955767 GRCh38: 7:37916165-37916165
6	SFRP4	NM_003014.4(SFRP4):c.958C>A (p.Pro320Thr)	SNV	Benign	1287094		GRCh37: 7:37947164-37947164 GRCh38: 7:37907562-37907562
7	SFRP4	NM_003014.4(SFRP4):c.1019G>A (p.Arg340Lys)	SNV	Benign	1332946		GRCh37: 7:37947103-37947103 GRCh38: 7:37907501-37907501
8	SFRP4	NM_003014.4(SFRP4):c.786C>T (p.Arg262=)	SNV	Benign	1332947		GRCh37: 7:37951726-37951726 GRCh38: 7:37912124-37912124
9	SFRP4	NM_003014.4(SFRP4):c.567G>A (p.Thr189=)	SNV	Benign	1332948		GRCh37: 7:37953840-37953840 GRCh38: 7:37914238-37914238

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Expression for Metaphyseal Dysplasia

Search GEO for disease gene expression data for Metaphyseal Dysplasia.

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Pathways for Metaphyseal Dysplasia

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

#	Super pathways	Score	Top Affiliating Genes
1	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.41	RUNX2 PTH COL2A1
2	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.38	RUNX2 PTHLH PTH1R PTH NKX3-2 MMP13
3	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.11	RUNX2 PTH1R PTH CDKN1C
4	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.94	RUNX2 PTHLH PTH1R PTH MMP13

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GO Terms for Metaphyseal Dysplasia

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	chondrocyte differentiation	GO:0002062	9.99	RUNX2 PTH1R COL2A1
2	bone morphogenesis	GO:0060349	9.88	SFRP4 MMP13 ACP5
3	endochondral ossification	GO:0001958	9.85	RUNX2 MMP13 COL2A1
4	positive regulation of inositol phosphate biosynthetic process	GO:0060732	9.83	PTH1R PTH
5	negative regulation of chondrocyte differentiation	GO:0032331	9.8	NKX3-2 PTH PTHLH
6	cytosolic ribosome assembly	GO:0042256	9.78	SBDS EFL1
7	skeletal system morphogenesis	GO:0048705	9.76	RUNX2 NKX3-2 COL2A1
8	bone resorption	GO:0045453	9.76	PTH1R PTH LRRK1 ACP5
9	cAMP metabolic process	GO:0046058	9.73	PTHLH PTH
10	osteoblast development	GO:0002076	9.73	RUNX2 PTHLH PTH1R
11	digestive system development	GO:0055123	9.67	NKX3-2 CDKN1C
12	bone mineralization	GO:0030282	9.65	MMP13 PTH PTH1R PTHLH SBDS
13	skeletal system development	GO:0001501	9.5	RUNX2 PTHLH PTH1R PTH NKX3-2 COL2A1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	peptide hormone receptor binding	GO:0051428	8.92	PTHLH PTH

Sources

Sources for Metaphyseal Dysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MTP001 MIFTS: 39	Metaphyseal Dysplasia Categories: Bone diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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