PRUNE1-related neurological syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PRUNE1-related neurological syndrome | |
| fr | Syndrome neurologique associé à PRUNE1 | |
| de | PRUNE1-assoziiertes neurologisches Syndrom | |
| es | Síndrome neurológico asociado al gen PRUNE1 | |
| it | Malattia neurologica correlata a PRUNE1 | |
| nl | PRUNE1-gerelateerd neurologisch syndroom | |
| pt | Síndrome neurológica PRUNE1-relacionada | |
| pl | Zespół neurologiczny związany z PRINE1 | |
| cs | PRUNE1-vázaný neurologický syndrom | |
| uk | Неврологічний синдром, повязаний з PRUNE1 | |
| zh | PRUNE1基因相关神经综合征 | |
| tr | PRUNE1-ilişkili nörolojik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617481 | E | validated | |
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| MONDO | 0060490 | E | validated | |
| UMLS | C4479566 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRUNE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13420 | ENSG00000143363 | 617413 | 1q21.3 | prune exopolyphosphatase 1 | 30556349[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | 30556349[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30556349[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
33 annotations · validated 2022-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0008936 | Axial hypotonia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0002540 | Inability to walk | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001285 | Spastic tetraparesis | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002169 | Clonus | |
| HP:0012448 | Delayed myelination | |
| HP:0002353 | EEG abnormality | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000252 | Microcephaly | |
| HP:0032794 | Myoclonic seizure | |
| HP:0001357 | Plagiocephaly | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0033725 | Thin corpus callosum | |
| Occasional (29-5%) | ||
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0000518 | Cataract | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0011097 | Epileptic spasm | |
| HP:0001347 | Hyperreflexia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000648 | Optic atrophy | |
| HP:0001308 | Tongue fasciculations | |
| Very rare (<4-1%) | ||
| HP:0000488 | Retinopathy | |
| HP:0002313 | Spastic paraparesis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 29940663[PMID]_35194938[PMID]_33105479[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/544469
- This record as JSON: /data/d/544469.json