ORPHA:1873
Jalili syndrome
Synonyms: Cone rod dystrophy-amelogenesis imperfecta syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jalili syndrome | Cone rod dystrophy-amelogenesis imperfecta syndrome |
| fr | Syndrome de Jalili | Syndrome de dystrophie des cônes et des bâtonnets-amélogenèse imparfaite |
| de | Jalili-Syndrom | Zapfen-Stäbchen-Dystrophie - Amelogenesis imperfecta |
| es | Síndrome de Jalili | Distrofia de conos y bastones-amelogénesis imperfecta |
| it | Sindrome di Jalili | Distrofia dei coni e dei bastoncelli - amelogenesi imperfetta |
| nl | Syndroom van Jalili | Kegel-staafdystrofie - amelogenesis imperfecta-syndroom |
| pt | Síndrome Jalili | Distrofia dos cones e bastonetes-amelogénese imperfeita |
| pl | Zespół Jalili | Dystrofia czopków i pręcików - amelogenesis imperfecta |
| cs | Jaliliho syndrom | Syndrom zahrnující dystrofii čípků a tyčinek a amelogenesis imperfecta |
| uk | Синдром Джалілі | Синдром недосконалого амелогенезу колбочкової дистрофії |
| zh | Jalili综合征 | 锥杆营养不良性-釉质发育不全综合征 |
| tr | Jalili sendromu | Koni çubuk distrofisi-amelogenezis imperfekta sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217080 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | LA30.6 | NTBT | index | validated |
| MONDO | 0009007 | E | validated | |
| MeSH | C000596385 | E | validated | |
| UMLS | C3495589 | E | validated | |
| GARD | 1463 | 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 (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNNM4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:105 | ENSG00000158158 | 607805 | 2q11.2 | cyclin and CBS domain divalent metal cation transport mediator 4 | 19200525[PMID]_24194943[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8.3 / 100 000 | Palestinian Territory, occupied | Value and class | Validated | 20706282[PMID] |
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 23362848[PMID]_20706282[PMID]_21728811[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011073 | Abnormality of dental color | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000705 | Amelogenesis imperfecta | |
| HP:0000551 | Color vision defect | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000648 | Optic atrophy | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1873
- This record as JSON: /data/d/1873.json