CATIFA
MCID: CTF001
MIFTS: 9

Catifa Syndrome (CATIFA)

Categories: Genetic diseases

Aliases & Classifications for Catifa Syndrome

MalaCards integrated aliases for Catifa Syndrome:

Name: Catifa Syndrome 56
Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder 56
Catifa 56

Classifications:



External Ids:

OMIM 56 618761

Summaries for Catifa Syndrome

OMIM : 56 CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries (Unlu et al., 2020). (618761)

MalaCards based summary : Catifa Syndrome, is also known as cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder. An important gene associated with Catifa Syndrome is RIC1 (RIC1 Homolog, RAB6A GEF Complex Partner 1).

Related Diseases for Catifa Syndrome

Symptoms & Phenotypes for Catifa Syndrome

Clinical features from OMIM:

618761

Drugs & Therapeutics for Catifa Syndrome

Search Clinical Trials , NIH Clinical Center for Catifa Syndrome

Genetic Tests for Catifa Syndrome

Anatomical Context for Catifa Syndrome

Publications for Catifa Syndrome

Articles related to Catifa Syndrome:

# Title Authors PMID Year
1
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. 61 56 6
31932796 2020
2
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. 56 6
27878435 2017

Variations for Catifa Syndrome

ClinVar genetic disease variations for Catifa Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RIC1 NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro)SNV Pathogenic 810663 9:5772741-5772741 9:5772741-5772741

Expression for Catifa Syndrome

Search GEO for disease gene expression data for Catifa Syndrome.

Pathways for Catifa Syndrome

GO Terms for Catifa Syndrome

Sources for Catifa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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