CPRF
MCID: CLF048

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features (CPRF) 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 52 70 27
 
Cprf 70

Classifications:



External Ids:

MedGen37 CN234733
MeSH39 D002972

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

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UniProtKB/Swiss-Prot:70 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:52 616728

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

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Symptoms & Phenotypes 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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Genetic tests related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

id Genetic test Affiliating Genes
1 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features27

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

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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:

70
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

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet