ORPHA:36367
Distal deletion 1q syndrome
Synonyms: Monosomy 1qter · Telomeric deletion 1q · Distal monosomy 1q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 1q syndrome | Monosomy 1qter · Telomeric deletion 1q · Distal monosomy 1q |
| fr | Syndrome de délétion distale 1q | Délétion 1qter · Délétion télomérique 1q · Monosomie 1qter · Monosomie distale 1q · Monosomie télomérique 1q |
| de | Distale Deletion 1q | Distale Monosomie 1q · Monosomie 1qter · Telomere Deletion 1q |
| es | Síndrome de deleción terminal 1q | Monosomía 1qter · Monosomía terminal 1q |
| it | Sindrome delezione 1q distale | Monosomia 1q distale · Delezione 1q telomerica · Monosomia 1qter |
| nl | Distale deletie 1q-syndroom | Distale monosomie 1q · Monosomie 1qter · Telomerische deletie 1q |
| pt | Deleção distal 1q | Deleção telomérica 1q · Monossomia 1qter · Monossomia distal 1q |
| pl | Zespół delecji dystalnej 1q | Dystalna delecja 1q · Monosomia 1qter · Telomerowa delecja 1q |
| cs | Distální monozomie 1q | Distální delece 1q · Monozomie 1qter · Telomerická delece 1q |
| uk | Дистальна делеція 1q | Дистальна моносомія 1q · Моносомія 1qter · Делеція теломерної ділянки 1q |
| zh | 1号染色体长臂远端单体 | 1号染色体长臂端粒缺失 |
| tr | Distal monozomi 1q | Monozomi 1qter · Distal delesyon 1q · Telomerik delesyon 1q |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612337 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.10 | NTBT | index | validated |
| MONDO | 0018205 | E | validated | |
| UMLS | C4273897 | 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: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:262001Partial deletion of the long arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZBTB18 | Role in the phenotype of | Assessed | HGNC:13030 | ENSG00000179456 | 608433 | 1q44 | zinc finger and BTB domain containing 18 | 28283832[PMID]_24193349[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
15 annotations · validated 2016-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011220 | Prominent forehead | |
| HP:0000311 | Round face | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22186213[PMID]_25728055[PMID]_3703649[PMID]_2137964[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36367
- This record as JSON: /data/d/36367.json