CHYTS
MCID: CHT006
MIFTS: 30

Chitayat Syndrome (CHYTS)

Categories: Genetic diseases

Aliases & Classifications for Chitayat Syndrome

MalaCards integrated aliases for Chitayat Syndrome:

Name: Chitayat Syndrome 57 74 29 6
Bronchomalacia 44 72
Chyts 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chitayat syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617180
UMLS 72 C0264353

Summaries for Chitayat Syndrome

OMIM : 57 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). The drugs Adrenergic beta-Agonists and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and lung, and related phenotypes are generalized hypotonia and pectus excavatum

UniProtKB/Swiss-Prot : 74 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 top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 roifman-chitayat syndrome 12.3
2 stalker chitayat syndrome 12.2
3 obsolete: familial intestinal malrotation-facial anomalies syndrome 11.2
4 tracheomalacia 10.6
5 tracheobronchomalacia 10.4
6 laryngomalacia 10.3
7 bronchomalacia 10.2
8 bunion 10.2
9 pectus excavatum 10.2
10 patent ductus arteriosus 1 10.2
11 pulmonary hypertension 10.2
12 heart septal defect 10.2
13 pulmonary hypoplasia, primary 10.1
14 asthma 10.1
15 cyanosis, transient neonatal 10.1
16 bronchial disease 10.1
17 ventricular septal defect 10.1
18 congestive heart failure 10.1
19 bronchitis 10.1
20 bronchogenic cyst 10.1
21 right aortic arch 10.1
22 hypertelorism 10.0
23 arthrogryposis, distal, with mental retardation and characteristic facies 10.0
24 craniosynostosis 10.0
25 congenital contractures 10.0
26 pectus carinatum 10.0
27 total anomalous pulmonary venous return 1 10.0
28 gastroesophageal reflux 10.0
29 fibrosis of extraocular muscles, congenital, 1 10.0
30 larsen syndrome 10.0
31 pancreas, annular 10.0
32 sarcoidosis 1 10.0
33 chromosome 2q35 duplication syndrome 10.0
34 tetralogy of fallot 10.0
35 digeorge syndrome 10.0
36 charge syndrome 10.0
37 cystic fibrosis 10.0
38 glycogen storage disease ii 10.0
39 spondylocostal dysostosis 1, autosomal recessive 10.0
40 spondylocostal dysostosis 3, autosomal recessive 10.0
41 autosomal recessive disease 10.0
42 scoliosis 10.0
43 cardiac arrest 10.0
44 respiratory failure 10.0
45 hemopericardium 10.0
46 mitral valve insufficiency 10.0
47 pericardial effusion 10.0
48 vacterl association 10.0
49 atrial heart septal defect 10.0
50 dysostosis 10.0

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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 32 occasional (7.5%) HP:0001290
2 pectus excavatum 32 very rare (1%) HP:0000767
3 delayed speech and language development 32 very rare (1%) HP:0000750
4 respiratory distress 32 very rare (1%) HP:0002098
5 polyhydramnios 32 very rare (1%) HP:0001561
6 brachydactyly 32 very rare (1%) HP:0001156
7 hallux valgus 32 very rare (1%) HP:0001822
8 bronchomalacia 32 very rare (1%) HP:0002780
9 hypertelorism 32 HP:0000316
10 recurrent respiratory infections 32 HP:0002205
11 depressed nasal bridge 32 HP:0005280
12 thick vermilion border 32 HP:0012471
13 anteverted nares 32 HP:0000463
14 short stature 32 HP:0004322
15 proptosis 32 HP:0000520
16 tracheomalacia 32 HP:0002779
17 short columella 32 HP:0002000
18 interstitial pulmonary abnormality 32 HP:0006530

Symptoms via clinical synopsis from OMIM:

57
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
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

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)

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

Drugs for Chitayat Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic beta-Agonists
2 Adrenergic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Completed NCT03666403
2 Mapping Sound Propagation Through the Human Lung for Better Diagnosis Recruiting NCT03043898
3 The Genetics of Severe Asthma in Children Recruiting NCT01238432

Search 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 29 ERF

Anatomical Context for Chitayat Syndrome

MalaCards organs/tissues related to Chitayat Syndrome:

41
Eye, Lung

Publications for Chitayat Syndrome

Articles related to Chitayat Syndrome:

# Title Authors PMID Year
1
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. 38 8 71
27738187 2017
2
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome? 8 71
8418638 1993
3
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum. 8
23824731 2013
4
Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: additional case. 8
8068091 1994
5
Radiography of Chitayat syndrome in an infant male. 38
30728880 2019
6
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. 38
30569521 2019
7
Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features. 38
29180244 2018
8
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. 38
17515308 2007
9
Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. 38
7717418 1995

Variations for Chitayat Syndrome

ClinVar genetic disease variations for Chitayat Syndrome:

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

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

74
# Symbol AA change Variation ID SNP ID
1 ERF p.Tyr89Cys VAR_078043 rs886041001

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
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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