CATIFA
MCID: CTF001
MIFTS: 20

Catifa Syndrome (CATIFA)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Catifa Syndrome

MalaCards integrated aliases for Catifa Syndrome:

Name: Catifa Syndrome 56 73 6
Catifa 56 73
Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder 56
Cleft Lip, Cataract, Tooth Abnormality, Intellectual Disability, Facial Dysmorphism, Attention-Deficit Hyperactivity Disorder 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
catifa syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Catifa Syndrome

UniProtKB/Swiss-Prot : 73 CATIFA syndrome: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention-deficit hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking.

MalaCards based summary : Catifa Syndrome, is also known as catifa. An important gene associated with Catifa Syndrome is RIC1 (RIC1 Homolog, RAB6A GEF Complex Partner 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and global developmental delay

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)

Related Diseases for Catifa Syndrome

Symptoms & Phenotypes for Catifa Syndrome

Human phenotypes related to Catifa Syndrome:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 inguinal hernia 31 very rare (1%) HP:0000023
4 sleep disturbance 31 very rare (1%) HP:0002360
5 microtia 31 very rare (1%) HP:0008551
6 anteverted nares 31 very rare (1%) HP:0000463
7 gait disturbance 31 very rare (1%) HP:0001288
8 strabismus 31 very rare (1%) HP:0000486
9 cleft palate 31 very rare (1%) HP:0000175
10 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
11 epicanthus 31 very rare (1%) HP:0000286
12 delayed eruption of teeth 31 very rare (1%) HP:0000684
13 long face 31 very rare (1%) HP:0000276
14 long philtrum 31 very rare (1%) HP:0000343
15 amblyopia 31 very rare (1%) HP:0000646
16 asthma 31 very rare (1%) HP:0002099
17 camptodactyly 31 very rare (1%) HP:0012385
18 developmental cataract 31 very rare (1%) HP:0000519
19 mild microcephaly 31 very rare (1%) HP:0040196
20 cleft lip 31 very rare (1%) HP:0410030
21 overbite 31 very rare (1%) HP:0011094

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose
anteverted nares
broad nose

Head And Neck Face:
long philtrum
elongated face

Head And Neck Mouth:
cleft lip and/or palate

Head And Neck Head:
microcephaly (in some patients)
small head (in some patients)

Respiratory Airways:
bronchial asthma (in some patients)

Head And Neck Eyes:
strabismus
epicanthus
amblyopia
congenital cataract
poor visual tracking

Head And Neck Ears:
small ears

Head And Neck Teeth:
dental caries
misaligned teeth
tooth eruption problems
overbite (in some patients)

Neurologic Central Nervous System:
intellectual disability, mild to severe
global developmental delay, mild to severe
clumsy, hypotonic gait
brain atrophy, mild (uncommon)

Neurologic Behavioral Psychiatric Manifestations:
sleep disorder (in some patients)
adhd (in male patients)

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

MalaCards organs/tissues related to Catifa Syndrome:

40
Brain

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. 6 56 61
31932796 2020
2
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. 6 56
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

UniProtKB/Swiss-Prot genetic disease variations for Catifa Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 RIC1 p.Arg1265Pro VAR_083541

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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