ORPHA:531
Miller-Dieker syndrome
Synonyms: Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3 · Telomeric deletion 17p
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare contiguous gene deletion syndrome of chromosome 17p13.3 characterized by classical lissencephaly, distinct facial dysmorphism, seizures and severe to profound intellectual disability. Additional congenital malformations can be part of the condition.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Miller-Dieker syndrome | Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3 · Telomeric deletion 17p |
| fr | Syndrome de Miller-Dieker | Délétion télomérique 17p · Lissencéphalie due à une délétion chromosomique 17p13.3 · Monosomie 17p13.3 |
| de | Miller-Dieker-Syndrom | Lissenzephalie durch Deletion 17p13.3 · Monosomie 17p13.3 |
| es | Síndrome de Miller-Dieker | Deleción terminal 17p · Lisencefalia por deleción 17p13.3 · Monosomía 17p13.3 |
| it | Sindrome di Miller-Dieker | Delezione 17p telomerica · Lissencefalia da delezione 17p13.3 · Monosomia 17p13.3 |
| nl | Syndroom van Miller-Dieker | Lissencefalie door 17p13.3-deletie · Monosomie 17p13.3 · Telomerische deletie 17p |
| pt | Lisencefalia tipo 1 por anomalias no gene LIS 1 | Lisencefalia ligada ao cromossoma 17 |
| pl | Zespół Millera i Diekera | Lizencefalia spowodowana delecją 17p13.3 · Monosomia 17p13.3 · Telomerowa delecja 17p |
| cs | Millerův-Diekerův syndrom | Monozomie 17p13.3 · Telomerická delece 17p · Lisencefalie způsobená delecí 17p13.3 · Miller-Diekerův syndrom |
| uk | Синдром Міллера-Дікера | Лісенцефалія внаслідок делеції 17p13.3 · Моносомія 17p13.3 · Делеція теломерної ділянки 17p |
| zh | Miller-Dieker综合征 | 17染色体短臂13.3缺失所致无脑回畸形 |
| tr | Miller-Dieker sendromu | Monozomi 17p13.3 · Telomerik delesyon 17p · 17p13.3 delesyona bağlı Lissensefali |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 247200 | E | validated | |
| ICD-10 | Q04.3 | NTBT | inclusion | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0009532 | E | validated | |
| MeSH | D054221 | E | validated | |
| UMLS | C0265219 | E | validated | |
| GARD | 3669 | E | validated | |
| MedDRA | 10068361 | 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:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:102009Classic lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:261965Partial deletion of the short arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HIC1 | Candidate gene tested in | Not yet assessed | HGNC:4909 | ENSG00000177374 | 603825 | 17p13.3 | HIC ZBTB transcriptional repressor 1 | 10072440[PMID]_10655551[PMID] |
| PAFAH1B1 | Role in the phenotype of | Assessed | HGNC:8574 | ENSG00000007168 | 601545 | 17p13.3 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 12621583[PMID] |
| YWHAE | Role in the phenotype of | Assessed | HGNC:12851 | ENSG00000108953 | 605066 | 17p13.3 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 19584063[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000177 | Abnormality of upper lip | |
| HP:0000463 | Anteverted nares | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0000348 | High forehead | |
| HP:0001339 | Lissencephaly | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001561 | Polyhydramnios | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000112 | Nephropathy | |
| HP:0001539 | Omphalocele | |
| HP:0000960 | Sacral dimple | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/531
- This record as JSON: /data/d/531.json