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CHIME
MCID: CLB017
MIFTS: 42
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Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (CHIME)
Categories:
Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...
MalaCards integrated aliases for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:
Name: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome
57
Characteristics:Orphanet epidemiological data:58
chime syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
wide-based gait chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies HPO:31
coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Ear diseases Skin diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis |
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OMIM® :
57
Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (280000) (Updated 05-Mar-2021)
MalaCards based summary : Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome, also known as chime syndrome, is related to brachydactyly and ectodermal dysplasia, and has symptoms including seizures An important gene associated with Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome is PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L), and among its related pathways/superpathways is Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The drugs Ledipasvir, sofosbuvir drug combination and Hormones have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are intellectual disability and ptosis Disease Ontology : 12 A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has material basis in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2. KEGG : 36 CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder characterized by colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation, and ear defects, including conductive hearing loss. Homozygous and compound heterozygous mutations in PIGL lead to this disorder. UniProtKB/Swiss-Prot : 73 Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome: An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Wikipedia : 74 Zunich-Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis... more... |
Human phenotypes related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:58 31 (show top 50) (show all 83)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:280000 (Updated 05-Mar-2021)UMLS symptoms related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:seizures |
Drugs for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:40
Heart,
Eye,
Kidney,
Brain
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Articles related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:(show all 17)
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Genes related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:6 (show top 50) (show all 57)
UniProtKB/Swiss-Prot genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:73
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Search
GEO
for disease gene expression data for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome.
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Pathways related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome according to KEGG:36
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