CHYTS
MCID: CHT006
MIFTS: 27

Chitayat Syndrome (CHYTS)

Categories: Genetic diseases

Aliases & Classifications for Chitayat Syndrome

MalaCards integrated aliases for Chitayat Syndrome:

Name: Chitayat Syndrome 58 76 30 6
Bronchomalacia 45 74
Chyts 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chitayat syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chitayat Syndrome

OMIM : 58 Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017). (617180)

MalaCards based summary : Chitayat Syndrome, also known as bronchomalacia, is related to roifman-chitayat syndrome and stalker chitayat syndrome. An important gene associated with Chitayat Syndrome is ERF (ETS2 Repressor Factor). Affiliated tissues include eye, lung and pancreas, and related phenotypes are generalized hypotonia and hypertelorism

UniProtKB/Swiss-Prot : 76 Chitayat syndrome: An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy.

Related Diseases for Chitayat Syndrome

Diseases related to Chitayat Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 roifman-chitayat syndrome 12.2
2 stalker chitayat syndrome 12.1
3 tracheomalacia 10.5
4 laryngomalacia 10.2
5 asthma 10.2
6 bronchomalacia 10.1
7 bunion 10.1
8 total anomalous pulmonary venous return 1 9.9
9 larsen syndrome 9.9
10 pancreas, annular 9.9
11 pectus excavatum 9.9
12 tetralogy of fallot 9.9
13 digeorge syndrome 9.9
14 vater/vacterl association 9.9
15 charge syndrome 9.9
16 cystic fibrosis 9.9
17 patent ductus arteriosus 1 9.9
18 spondylocostal dysostosis 3, autosomal recessive 9.9
19 bronchiolitis obliterans 9.9
20 pulmonary emphysema 9.9
21 vacterl association 9.9
22 ventricular septal defect 9.9
23 dysostosis 9.9
24 bronchiolitis 9.9
25 pneumonia 9.9
26 polyhydramnios 9.9
27 bronchogenic cyst 9.9
28 cystic adenomatoid malformation of lung 9.9

Graphical network of the top 20 diseases related to Chitayat Syndrome:



Diseases related to Chitayat Syndrome

Symptoms & Phenotypes for Chitayat Syndrome

Human phenotypes related to Chitayat Syndrome:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 33 occasional (7.5%) HP:0001290
2 hypertelorism 33 HP:0000316
3 recurrent respiratory infections 33 HP:0002205
4 depressed nasal bridge 33 HP:0005280
5 thick vermilion border 33 HP:0012471
6 anteverted nares 33 HP:0000463
7 respiratory distress 33 HP:0002098
8 brachydactyly 33 HP:0001156
9 polyhydramnios 33 HP:0001561
10 proptosis 33 HP:0000520
11 tracheomalacia 33 HP:0002779
12 short columella 33 HP:0002000
13 interstitial pulmonary abnormality 33 HP:0006530
14 bronchomalacia 33 HP:0002780

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
prominent eyes

Respiratory Airways:
recurrent respiratory infections
tracheomalacia
bronchomalacia
respiratory distress at birth and in infancy
collapsed distal bronchi on biopsy
more
Skeletal Hands:
brachydactyly
short index fingers with ulnar deviation
accessory phalanges at base of index fingers seen on x-ray
hyperphalangism on radial aspect of index fingers (in some patients)

Head And Neck Mouth:
full lips

Neurologic Central Nervous System:
hypotonia (in some patients)

Skeletal Feet:
bilateral hallux valgus

Chest External Features:
pectus excavatum

Head And Neck Nose:
depressed nasal bridge
short columella
upturned nose

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Respiratory Lung:
interstitial lung disease
irregularly enlarged and poorly septated alveoli on lung biopsy

Head And Neck Head:
box-shaped head

Clinical features from OMIM:

617180

Drugs & Therapeutics for Chitayat Syndrome

Search Clinical Trials , NIH Clinical Center for Chitayat Syndrome

Cochrane evidence based reviews: bronchomalacia

Genetic Tests for Chitayat Syndrome

Genetic tests related to Chitayat Syndrome:

# Genetic test Affiliating Genes
1 Chitayat Syndrome 30 ERF

Anatomical Context for Chitayat Syndrome

MalaCards organs/tissues related to Chitayat Syndrome:

42
Eye, Lung, Pancreas

Publications for Chitayat Syndrome

Articles related to Chitayat Syndrome:

# Title Authors Year
1
Radiography of Chitayat syndrome in an infant male. ( 30728880 )
2019
2
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. ( 30569521 )
2018
3
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. ( 27738187 )
2017
4
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. ( 17515308 )
2007
5
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome? ( 8418638 )
1993

Variations for Chitayat Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 ERF p.Tyr89Cys VAR_078043 rs886041001

ClinVar genetic disease variations for Chitayat Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
2 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh38 Chromosome 19, 42249565: 42249565
3 ERF NM_006494.2(ERF): c.266A> G (p.Tyr89Cys) single nucleotide variant Pathogenic rs886041001 GRCh37 Chromosome 19, 42754086: 42754086
4 ERF NM_006494.2(ERF): c.266A> G (p.Tyr89Cys) single nucleotide variant Pathogenic rs886041001 GRCh38 Chromosome 19, 42249934: 42249934

Expression for Chitayat Syndrome

Search GEO for disease gene expression data for Chitayat Syndrome.

Pathways for Chitayat Syndrome

GO Terms for Chitayat Syndrome

Sources for Chitayat Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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