Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (CHIME)

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OMIM 56 280000 KEGG 36 H01487 MeSH 43 D003103 D006314 D006331 D007057 D008607 more ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C1848392

Orphanet 58 ORPHA3474 MedGen 41 C1848392 SNOMED-CT via HPO 68 103276001 11731003 11934000 128602000 128613002 128822004 13649004 15188001 157265008 194021007 20255002 203522001 204296002 204342004 21850008 22006008 22066006 228156007 238810007 24072005 246545002 246799009 247441003 247546006 247578003 248004009 248328003 249321001 249752003 249808002 253549006 253631001 254024005 258211005 26146002 266414008 268290005 26996000 271811009 275259005 278849000 29271008 299462005 30288003 30425001 313307000 32337007 343087000 367534004 39302008 396228006 397932003 398151007 398152000 399955009 40159009 408856003 408857007 413921009 418143002 43064006 43614003 44057004 444827008 448564004 46742003 52522001 53148007 53602002 56558005 63567004 64634000 64969001 706885006 70819003 83145004 84757009 86299006 86414002 8666004 86735004 87979003 90145001 91138005 91175000 91855006 91857003 95575002 95735008 95828007 more UMLS 71 C1848392

OMIM : ⁵⁶ 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)

MalaCards based summary : Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome, also known as chime syndrome, is related to sudden infant death syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 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 Bile Acids and Salts and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are hypertelorism and intellectual disability

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.

Clinical features from OMIM:

280000

Search NIH Clinical Center for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome

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