CPRF
MCID: CLF048
MIFTS: 9

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features (CPRF) malady

Categories: Genetic diseases

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

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

Name: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 54 66 29
Cprf 66

Classifications:



External Ids:

MedGen 40 CN234733
MeSH 42 D002972

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

UniProtKB/Swiss-Prot : 66 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).

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

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

Clinical features from OMIM:

616728

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

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

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

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 Features 29

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

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 KDM1A p.Glu379Lys VAR_076366 rs864309715
2 KDM1A p.Asp556Gly VAR_076367 rs864309716
3 KDM1A p.Tyr761His VAR_076368 rs864309714

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KDM1A NM_001009999.2(KDM1A): c.2353T> C (p.Tyr785His) single nucleotide variant Pathogenic rs864309714 GRCh37 Chromosome 1, 23408767: 23408767
2 KDM1A NM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs864309715 GRCh37 Chromosome 1, 23395059: 23395059

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....