Aliases & Classifications for Chitayat Syndrome

MalaCards integrated aliases for Chitayat Syndrome:

Name: Chitayat Syndrome 57 75 29 6
Bronchomalacia 44 73
Chyts 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chitayat syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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). Affiliated tissues include eye and lung, and related phenotypes are hypertelorism and anteverted nares

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 roifman-chitayat syndrome 12.0
2 stalker chitayat syndrome 11.9
3 bronchomalacia 9.9

Symptoms & Phenotypes for Chitayat Syndrome

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
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

Human phenotypes related to Chitayat Syndrome:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 anteverted nares 32 HP:0000463
3 proptosis 32 HP:0000520
4 brachydactyly 32 HP:0001156
5 generalized hypotonia 32 occasional (7.5%) HP:0001290
6 polyhydramnios 32 HP:0001561
7 short columella 32 HP:0002000
8 recurrent respiratory infections 32 HP:0002205
9 tracheomalacia 32 HP:0002779
10 bronchomalacia 32 HP:0002780
11 depressed nasal bridge 32 HP:0005280
12 interstitial pulmonary abnormality 32 HP:0006530
13 thick vermilion border 32 HP:0012471

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 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 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. ( 27738187 )
2017
2
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. ( 17515308 )
2007

Variations for Chitayat Syndrome

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

75
# 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 Likely pathogenic rs886041001 GRCh37 Chromosome 19, 42754086: 42754086
2 ERF NM_006494.3(ERF): c.266A> G (p.Tyr89Cys) single nucleotide variant Likely 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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