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 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 heart, 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 26)
# 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 digeorge syndrome 9.9
13 vater/vacterl association 9.9
14 cystic fibrosis 9.9
15 patent ductus arteriosus 1 9.9
16 spondylocostal dysostosis 3, autosomal recessive 9.9
17 bronchiolitis obliterans 9.9
18 pulmonary emphysema 9.9
19 vacterl association 9.9
20 ventricular septal defect 9.9
21 dysostosis 9.9
22 bronchiolitis 9.9
23 pneumonia 9.9
24 polyhydramnios 9.9
25 bronchogenic cyst 9.9
26 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, Heart

Publications for Chitayat Syndrome

Articles related to Chitayat Syndrome:

(show all 50)
# Title Authors Year
1
A successful case of external stenting for bronchomalacia lasting over 20 years. ( 30716290 )
2019
2
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. ( 30569521 )
2019
3
Radiography of Chitayat syndrome in an infant male. ( 30728880 )
2019
4
Treatment of bronchomalacia using three-dimensional printed polycaprolactone scaffold in a pediatric patient. ( 30709677 )
2018
5
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
6
Severe bronchomalacia treated by combination of Nuss procedure and aortopexy: an unusual therapy combination. ( 21172474 )
2011
7
Handling of extensive aneurysm of the aorta with bronchomalacia in a Marfan patient. ( 20729239 )
2010
8
Bronchomalacia occurring in monozygotic twins--further information about its inheritance. ( 19604169 )
2009
9
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. ( 17515308 )
2007
10
Noninvasive treatment of bronchomalacia, successful ventilation of a severely ill infant. ( 17429927 )
2007
11
Relief of bronchial obstruction using a Fogarty catheter in a patient with bronchomalacia. ( 16368809 )
2006
12
Treatment of bronchomalacia in cystic fibrosis by silicone stent. ( 17126148 )
2006
13
Bronchomalacia in sarcoidosis: evaluation on volumetric expiratory high-resolution CT of the lung. ( 15866132 )
2005
14
A decade of using intraluminal tracheal/bronchial stents in the management of tracheomalacia and/or bronchomalacia: is it better than aortopexy? ( 15991168 )
2005
15
Tracheomalacia and bronchomalacia in children: incidence and patient characteristics. ( 16304290 )
2005
16
Tracheomalacia and bronchomalacia in 34 children: clinical and radiologic profiles and associations with other diseases. ( 16327964 )
2005
17
Tracheomalacia and bronchomalacia in children: pathophysiology, assessment, treatment and anaesthesia management. ( 12535032 )
2003
18
Aortopexy and bronchopexy for the management of severe tracheomalacia and bronchomalacia. ( 12654081 )
2003
19
Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. ( 12220436 )
2002
20
The use of balloon-expandable metallic stents in the treatment of pediatric tracheomalacia and bronchomalacia. ( 10037287 )
1999
21
Bronchopexy for congenital bronchomalacia in the newborn. ( 10466621 )
1999
22
Left bronchial isomerism, normal atrial arrangement and bronchomalacia mimicking asthma: a new syndrome? ( 10515432 )
1999
23
Primary bronchomalacia and patent ductus arteriosus: simultaneous surgical correction in an infant. ( 10524752 )
1999
24
Aortobronchial fistula after expandable metal stent insertion for pediatric bronchomalacia. ( 9722011 )
1998
25
Use of balloon-expandable metallic stents in the management of bronchial stenosis and bronchomalacia after lung transplantation. ( 9824010 )
1998
26
Primary bronchomalacia in infants and children. ( 9003852 )
1997
27
Severe bronchomalacia in a 65-year-old man treated with stent insertion instead of surgical bronchoplasty. ( 18493370 )
1995
28
Broad proximal phalanx, facial anomalies, hallux valgus, and bronchomalacia: additional case. ( 8068091 )
1994
29
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome? ( 8418638 )
1993
30
Acquired diffuse bronchomalacia in heart-lung transplant recipients. ( 1453743 )
1992
31
Left bronchial isomerism associated with bronchomalacia, presenting with intractable wheeze. ( 1858089 )
1991
32
The importance of acquired diffuse bronchomalacia in heart-lung transplant recipients with obliterative bronchiolitis. ( 2008102 )
1991
33
Left mainstem bronchopexy for severe bronchomalacia. ( 2030470 )
1991
34
Treatment of severe bronchomalacia with expanding endobronchial stents. ( 2200445 )
1990
35
Distal airway bronchomalacia resulting in severe obstructive airway physiology. ( 2298079 )
1990
36
Localized tracheomalacia or bronchomalacia in children with intractable cough. ( 2308032 )
1990
37
The use of bronchial stents in the management of bronchomalacia. ( 3592182 )
1987
38
Long-term functional results of prosthetic airway splinting in tracheomalacia and bronchomalacia. ( 3819991 )
1987
39
Effectiveness of continuous positive airway pressure in the treatment of bronchomalacia in infants: a bronchoscopic documentation. ( 3510811 )
1986
40
Bronchomalacia in the neonate. ( 3901858 )
1985
41
Localized bronchomalacia presenting as worsening asthma. ( 3977137 )
1985
42
Segmental bronchomalacia: successful surgical correction in an infant. ( 4009373 )
1985
43
Treatment of segmental tracheomalacia and bronchomalacia by implantation of an airway splint. ( 7175652 )
1982
44
Association between pectus excavatum and segmental bronchomalacia. ( 7359268 )
1980
45
A genesis of the lung complicated by vascular compression and bronchomalacia. ( 1185472 )
1975
46
Congenital bronchomalacia. An unusual cause of expiratory stridor. ( 4436122 )
1974
47
Case report. Generalized familial bronchomalacia. ( 4850901 )
1974
48
Bronchomalacia in children. Considerations governing medical vs surgical treatment. ( 5445066 )
1970
49
Congenital segmental bronchomalacia. ( 5353023 )
1969
50
Congenital bronchomalacia. ( 5635065 )
1968

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.266A> G (p.Tyr89Cys) single nucleotide variant Pathogenic rs886041001 GRCh37 Chromosome 19, 42754086: 42754086
2 ERF NM_006494.3(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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