MCID: SCP007
MIFTS: 10

Scaphocephaly, Maxillary Retrusion, and Mental Retardation malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Aliases & Classifications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Aliases & Descriptions for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 46 9 22


Classifications:



External Ids:

OMIM46 609579

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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MalaCards based summary: Scaphocephaly, Maxillary Retrusion, and Mental Retardation An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (fibroblast growth factor receptor 2).

Description from OMIM:46 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Symptoms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Clinical features from OMIM:

609579

Drugs & Therapeutics for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Drug clinical trials:

Search ClinicalTrials for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Search NIH Clinical Center for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Genetic tests related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

id Genetic test Affiliating Genes
1 Scaphocephaly, Maxillary Retrusion, and Mental Retardation22

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Animal Models for Scaphocephaly, Maxillary Retrusion, and Mental Retardation or affiliated genes

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Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

63
id Symbol AA change Variation ID SNP ID
1FGFR2p.Lys526GluVAR_023788

Clinvar genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)single nucleotide variantPathogenicrs121918507GRCh37Chr 10, 123258105: 123258105

Expression for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Search GEO for disease gene expression data for Scaphocephaly, Maxillary Retrusion, and Mental Retardation.

Pathways for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Compounds for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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GO Terms for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet