ORPHA:3474
CHIME syndrome
Synonyms: Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency · Neuroectodermal dysplasia, CHIME type · Neuroectodermal syndrome, Zunich type · PIGL-CDG · Zunich-Kaye syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHIME syndrome | Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency · Neuroectodermal dysplasia, CHIME type · Neuroectodermal syndrome, Zunich type · PIGL-CDG · Zunich-Kaye syndrome |
| fr | Syndrome CHIME | Anomalie congénitale de la glycosylation par déficit en PIGL · Dysplasie neuroectodermique type CHIME · PIGL-CDG · Syndrome colobome-maladie cardiaque congénitale-dermatose ichtyosiforme-déficience intellectuelle-anomalie des oreilles · Syndrome de Zunich-Kaye · Syndrome neuroectodermique type Zunich |
| de | CHIME-Syndrom | Dysplasie, neuroektodermale, Typ CHIME · Kohlenhydrat-defizientes Glykoprotein-Syndrom durch PIGL-Mangel · Kolobom-kongenitale Herzkrankheit-ichthyosiforme Dermatose-Intelligenzminderung-Ohrenanomalien · Neuroektodermales Syndrom Typ Zunich · PIGL-CDG · Zunich-Kaye-Syndrom |
| es | Síndrome CHIME | Displasia neuroectodérmica tipo CHIME · Displasia neuroectodérmica tipo Zunich · PIGL-CDG · Síndrome de Zunich-Kaye · Síndrome de coloboma-cardiopatía congénita-dermatosis ictiosiforme-discapacidad intelectual-anomalías de las orejas · Trastorno congénito de la glicosilación por deficiencia de PIGL |
| it | Sindrome CHIME | Displasia neuroectodermica, tipo CHIME · Disturbo congenito della glicosilazione da deficiti di PIGL · PIGL-CDG · Sindrome coloboma-cardiopatia-dermatosi ittiosiforme-deficit cognitivo-orecchie anomale · Sindrome di Zunich-Kaye · Sindrome neuroectodermica, tipo Zunich |
| nl | CHIME-syndroom | Coloboom - congenitale hartziekte - ichthyosiforme dermatose - intellectuele achterstand - ooranomalieën-syndroom · Congenitale stoornis van de glycosylatie door PIGL-deficiëntie · Neuro-ectodermaal syndroom, Zunich-type · Neuro-ectodermale dysplasie, CHIME-type · PIGL-CDG · Syndroom van Zunich-Kaye |
| pt | Síndrome CHIME | Displasia neuroectodérmica, tipo CHIME · PIGL-CDG · Síndrome Zunich-Kaye · Síndrome neuroectodérmica, tipo Zunich |
| pl | Zespół CHIME | Dysplazja neuroektodermalna, typu CHIME · PIGL-CDG · Wrodzone zaburzenie glikozylacji z powodu niedoboru PIGL · Zespół neuroektodermalny, typu Zunicha · Zespół szczelina oka-wrodzona choroba serca-dermatoza w typie rybiej łuski-niepełnosprawność intelektualna-wady uszu · Zespół Zunicha i Kaye'a |
| cs | CHIME syndrom | Neuroektodermální dysplázie, typ CHIME · Neuroektodermální syndrom, typ Zunichové · PIGL-CDG · Zunichové-Kayeové syndrom · Syndrom zahrnující kolobom, vrozené srdeční onemocnění, ichtyoziformní dermatózu, mentální postižení a anomálie ucha · Vrozená porucha glykosylace způsobená deficitem PIGL · Zunich-Kayeové syndrom |
| uk | Синдром CHIME | Синдром колобоми - вродженої вади серця - іхтіозиформного дерматозу - розумової відсталості - вушних аномалій · Вроджене порушення глікозилювання внаслідок дефіциту PIGL · Нейроектодермальна дисплазія, тип CHIME · Нейроектодермальний синдром, тип Зуніха · PIGL-CDG · Синдром Зуніча-Кейє |
| zh | CHIME综合征 | 眼缺损-先天性心脏病-鱼鳞病样皮肤病-智力障碍-耳畸形综合征 |
| tr | CHIME sendromu | PIGL-CDG · Zunich-Kaye sendromu · Nöroektodermal displazi, CHIME tipi · Nöroektodermal sendrom, Zunich tipi · PIGL eksikliğine bağlı Doğumsal glikosilasyon bozukluğu · Koloboma-doğumsal kalp hastalığı-iktiyoziform dermatoz-zihinsel yetersizlik-kulak anomalileri sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 280000 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010221 | E | validated | |
| MeSH | C536729 | E | validated | |
| UMLS | C1848392 | E | validated | |
| GARD | 310 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:371212Congenital disorder of glycosylation with deafness as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGL | Disease-causing germline mutation(s) in | Assessed | HGNC:8966 | ENSG00000108474 | 605947 | 17p11.2 | phosphatidylinositol glycan anchor biosynthesis class L | 22444671[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 22444671[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22444671[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
48 annotations · validated 2018-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000248 | Brachycephaly | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000286 | Epicanthus | |
| HP:0010783 | Erythema | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0000668 | Hypodontia | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000691 | Microdontia | |
| HP:0000508 | Ptosis | |
| HP:0000480 | Retinal coloboma | |
| HP:0000322 | Short philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000098 | Tall stature | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand | |
| HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | |
| HP:0006660 | Aplastic clavicles | |
| HP:0000175 | Cleft palate | |
| HP:0007957 | Corneal opacity | |
| HP:0010882 | Pulmonary valve atresia | |
| HP:0001250 | Seizure | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0002488 | Acute leukemia | |
| HP:0000717 | Autism | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100760 | Clubbing of toes | |
| HP:0002213 | Fine hair | |
| HP:0002827 | Hip dislocation | |
| HP:0000126 | Hydronephrosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0002797 | Osteolysis | |
| HP:0200042 | Skin ulcer | |
| HP:0008070 | Sparse hair | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3474
- This record as JSON: /data/d/3474.json