MCID: CLF048

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features malady

Category: Genetic diseases (common)

Aliases & Classifications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Aliases & Descriptions for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

Name: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 51 69
 
Cprf 69

Classifications:



External Ids:

MedGen36 CN234733
MeSH38 D002972

Summaries for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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UniProtKB/Swiss-Prot:69 Cleft palate, psychomotor retardation, and distinctive facial features: A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion.

MalaCards based summary: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features, is also known as cprf An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A).

Description from OMIM:51 616728

Related Diseases for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Symptoms for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Clinical features from OMIM:

616728

Drugs & Therapeutics for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

Genetic Tests for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Anatomical Context for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Animal Models for Cleft Palate, Psychomotor Retardation, and Distinctive Facial... or affiliated genes

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Publications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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UniProtKB/Swiss-Prot genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

69
id Symbol AA change Variation ID SNP ID
1KDM1Ap.Glu379LysVAR_076366rs864309715
2KDM1Ap.Asp556GlyVAR_076367rs864309716
3KDM1Ap.Tyr761HisVAR_076368rs864309714

Clinvar genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KDM1ANM_001009999.2(KDM1A): c.2353T> C (p.Tyr785His)SNVPathogenicrs864309714GRCh37Chr 1, 23408767: 23408767
2KDM1ANM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys)SNVPathogenicrs864309715GRCh37Chr 1, 23395059: 23395059
3KDM1ANM_001009999.2(KDM1A): c.1739A> G (p.Asp580Gly)SNVPathogenicrs864309716GRCh37Chr 1, 23403725: 23403725

Expression for genes affiliated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Search GEO for disease gene expression data for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features.

Pathways for genes affiliated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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GO Terms for genes affiliated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Sources for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet