Disease #01001

Official abbreviation CHIME;GPIBD-5
Name CHIME syndrome (Zunich neuroectodermal syndrome, glycosylphosphatidylinositol deficiency, type 5 (GPIBD-5))
OMIM ID 280000
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 6
Associated with 1 gene PIGL
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00025123 - PubMed: Ng 2012 Index case with CHIME syndrome who carries one mutation in PIGL and a deletion on chromosome 17. F - ? (unknown) - - 0 - - CHIME;GPIBD-5 She presented craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and ultrastructural investigations of the affected skin showed characteristic but nonspecific changes. PIGL - 1 1 Philippe Campeau
00025915 22444671-Fam PubMed: Ng 2012 Two siblings with Zunich neuroectodermal syndrome. ? no ? (unknown) - - 0 - - CHIME;GPIBD-5 FEatures included ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. PIGL PIGL 2 2 Philippe Campeau
00025916 - PubMed: Ng 2012 Index case with CHIME syndrome. - - ? (unknown) - - 0 - - CHIME;GPIBD-5 Clinical features included ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. PIGL PIGL 2 1 Philippe Campeau
00025917 - PubMed: Ng 2012 Index case with CHIME syndrome, one mutation in PIGL found. - - - - - 0 - - CHIME;GPIBD-5 Phenotype included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The patient developped acute lymphoblastic leukemia at age 4 1/2 years. PIGL PIGL 1 1 Philippe Campeau
00025918 - PubMed: Ng 2012 Index case with CHIME syndrome M no - - - 0 - - CHIME;GPIBD-5 Clinical features included bilateral retinal colobomas, subaortic stenosis, and hydronephrosis. Facial dysmorphic features were frontal bossing, a broad nasal root, a flat midface with an elongated philtrum, and slightly lowset, posteriorly angulated ears. He showed delayed psychomotor skills including speech and had conductive hearing loss and a seizure disorder. At 10 years, his skin showed mild erythema, with lamellated, ichthyosiform changes. PIGL PIGL 2 1 Philippe Campeau
00025919 22444671-Pat33300 PubMed: Ng 2012, case described in PubMed: Tinschert 1996 Index case with CHIME syndrome who carries one mutation in PIGL and a deletion on chromosome 17. F no Germany - - 0 - - CHIME;GPIBD-5 She presented craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and ultrastructural investigations of the affected skin showed characteristic but nonspecific changes. PIGL PIGL 2 1 Philippe Campeau
00155018 - PubMed: Johnson 2017 - M no - - - 0 - - CHIME;GPIBD-5 - PIGL PIGL 1 1 Philippe Campeau
00163760 - PubMed: Ceroni 2018 - M no Brazil - - 0 - - CHIME;GPIBD-5 - - PIGL 2 1 Philippe Campeau
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