1p31p32 microdeletion syndrome
Synonyms: Del(1)(p31p32) · Monosomy 1p31p32
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1p31p32 microdeletion syndrome | Del(1)(p31p32) · Monosomy 1p31p32 |
| fr | Syndrome de microdélétion 1p31p32 | Del(1)(p31p32) · Monosomie 1p31p32 |
| de | Mikrodeletionssyndrom 1p31p32 | Del(1)(p31p32) · Monosomie 1p31p32 |
| es | Síndrome de microdeleción 1p31p32 | Del(1)(p31p32) · Monosomía 1p31p32 |
| it | Sindrome da microdelezione 1p31p32 | Del(1)(p31p32) · Monosomia 1p31p32 |
| nl | 1p31p32-microdeletiesyndroom | Del(1)(p31p32) · Monosomie 1p31p32 |
| pt | Síndrome de microdeleção 1p31p32 | |
| pl | Zespół mikrodelecji 1p31p32 | Del(1)(p31p32) · Monosomia 1p31p32 |
| cs | Mikrodeleční syndrom 1p31p32 | Del(1)(p31p32) · Monozomie 1p31p32 |
| uk | Синдром мікроделеції 1p31p32 | Del(1)(p31p32) · Моносомія 1p31p32 |
| zh | 1p31p32微缺失综合症 | 1p31p32单体 |
| tr | 1p31p32 mikrodelesyon sendromu | Del(1)(p31p32) · Monozomi 1p31p32 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613735 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0013396 | E | validated | |
| UMLS | C4707828 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:261857Partial deletion of the short arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFIA | Role in the phenotype of | Assessed | HGNC:7784 | ENSG00000162599 | 600727 | 1p31.3 | nuclear factor I A | 24462883[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 24462883[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24462883[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.
HPO phenotypes
18 annotations · validated 2022-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0001263 | Global developmental delay | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0000079 | Abnormality of the urinary system | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0007099 | Chiari type I malformation | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002007 | Frontal bossing | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0030746 | Intraventricular hemorrhage | |
| HP:0000256 | Macrocephaly | |
| HP:0001250 | Seizure | |
| HP:0002144 | Tethered cord | |
| Occasional (29-5%) | ||
| HP:0001363 | Craniosynostosis | |
| HP:0000965 | Cutis marmorata | |
| HP:0007906 | Ocular hypertension | |
| Very rare (<4-1%) | ||
| HP:0011834 | Moyamoya phenomenon | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28941020[PMID]_29240611[PMID]_28926972[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401986
- This record as JSON: /data/d/401986.json