PLAA-associated neurodevelopmental disorder
Synonyms: PLAAND
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLAA-associated neurodevelopmental disorder | PLAAND |
| fr | Trouble neurologique du développement associé à PLAA | = en |
| de | PLAA-assoziierte neurologische Entwicklungsstörung | = en |
| es | Trastorno del neurodesarrollo asociado a PLAA | = en |
| it | Malattia dello sviluppo neurologico associata a PLAA | = en |
| nl | PLAA-geassocieerde neurologische ontwikkelingsstoornis | = en |
| pt | Perturbação do neurodesenvolvimento PLAA-associada | |
| pl | Zaburzenie neurorozwojowe związane z PLAA | = en |
| cs | Neurovývojová porucha asociovaná s PLAA | = en |
| uk | PLAA-асоційоване порушення нейророзвитку | = en |
| zh | PLAA基因相关的神经发育障碍 | = en |
| tr | PLAA-ilişkili nörogelişimsel bozukluk | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617527 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0060502 | E | validated | |
| UMLS | C4479631 | 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:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLAA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9043 | ENSG00000137055 | 603873 | 9p21.2 | phospholipase A2 activating protein | 28007986[PMID]_28413018[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 28007986[PMID]_28413018[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28007986[PMID]_28413018[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
51 annotations · validated 2019-03-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0002104 | Apnea | |
| HP:0001283 | Bulbar palsy | |
| HP:0008278 | Cerebellar cortical atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0005781 | Contractures of the large joints | |
| HP:0012448 | Delayed myelination | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001332 | Dystonia | |
| HP:0012098 | Edema of the dorsum of feet | |
| HP:0007514 | Edema of the dorsum of hands | |
| HP:0002267 | Exaggerated startle response | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001007 | Hirsutism | |
| HP:0001187 | Hyperextensibility of the finger joints | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0031162 | Impaired oropharyngeal swallow response | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002509 | Limb hypertonia | |
| HP:0100807 | Long fingers | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000648 | Optic atrophy | |
| HP:0000768 | Pectus carinatum | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002478 | Progressive spastic quadriplegia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002063 | Rigidity | |
| HP:0001838 | Rocker bottom foot | |
| HP:0003196 | Short nose | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000319 | Smooth philtrum | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002483 | Bulbar signs | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
Annotation source: 28413018[PMID]_28007986[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521426
- This record as JSON: /data/d/521426.json