MCID: MTP011
MIFTS: 10

Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

MalaCards integrated aliases for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth:

Name: Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 57 20
Overgrowth-Metaphyseal Undermodeling-Spondylar Dysplasia Syndrome 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608811
Orphanet 58 ORPHA498485

Summaries for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

MalaCards based summary : Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth, also known as overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome, is related to cryptorchidism, unilateral or bilateral and hypospadias. An important gene associated with Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth is GPC3 (Glypican 3).

More information from OMIM: 608811

Related Diseases for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Diseases related to Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cryptorchidism, unilateral or bilateral 10.4
2 hypospadias 10.4
3 hypogonadism 10.4
4 overgrowth syndrome 10.4

Symptoms & Phenotypes for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Clinical features from OMIM®:

608811 (Updated 05-Apr-2021)

Drugs & Therapeutics for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Search Clinical Trials , NIH Clinical Center for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Genetic Tests for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Anatomical Context for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Publications for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Articles related to Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth:

# Title Authors PMID Year
1
Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child. 57 61
15214018 2004

Variations for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Expression for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Search GEO for disease gene expression data for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth.

Pathways for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

GO Terms for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

Sources for Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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