ORPHA:529665
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Synonyms: GPAA1-related biosynthesis defect
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | GPAA1-related biosynthesis defect |
| fr | Retard du développement neurologique-épilepsie-anomalies ophtalmiques-ostéopénie-atrophie cérébelleuse | Défaut de biosynthèse associé à GPAA1 |
| de | Neurologische Entwicklungsverzögerung-Krampfanfälle-Augenanomalien-Osteopenie-zerebelläre Atrophie-Syndrom | GPAA1-assoziierter Biosynthesedefekt |
| es | Síndrome de retraso del neurodesarrollo-crisis-anomalías oftálmicas-osteopenia-atrofia cerebelosa | Defecto de biosíntesis asociado a GPAA1 |
| it | Sindrome ritardo del neurosviluppo-crisi epilettiche-anomalie oculari-osteopenia-atrofia cerebellare | |
| nl | Neurologische ontwikkelingsachterstand - insulten - oftalmische anomalieën - osteopenie - cerebellaire atrofie-syndroom | GPAA1-gerelateerd biosynthesedefect |
| pt | Síndrome de perturbação do neurodesenvolvimento-convulsões-anomalias oftalmológicas-osteopenia-atrofia cerebelosa | Defeito da biossíntese GPAA1-relacionado |
| pl | Zespół atrofii móżdżkowej, osteopenii, wad wzroku, drgawek i opóźnienia neurorozwojowego | = en |
| cs | Syndrom zahrnující neurovývojové opoždění, záchvaty, oční anomálie, osteopenii a atrofii mozečku | Defekt GPAA1-vázané biosyntézy |
| uk | Синдром затримки нервового розвитку-судом-офтальмологічних аномалій-остеопенії-атрофії мозочка | Дефект біосинтезу, повязаний з GPAA1 |
| zh | 神经发育迟缓-癫痫-眼球异常-骨质疏松-小脑萎缩综合征 | GPAA1相关生物合成缺陷 |
| tr | Nörogelişme geriliği-nöbetler-oftalmik anomaliler-osteopeni-serebellar atrofi sendromu | GPAA1-ilişkili biyosentez defekti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617810 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0060627 | E | validated | |
| UMLS | C4540520 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPAA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4446 | ENSG00000197858 | 603048 | 8q24.3 | glycosylphosphatidylinositol anchor attachment 1 | 29100095[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 29100095[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29100095[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.
6
HPO phenotypes
31 annotations · validated 2019-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000455 | Broad nasal tip | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003698 | Difficulty standing | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0011220 | Prominent forehead | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0002133 | Status epilepticus | |
| HP:0000505 | Visual impairment | |
| Excluded (0%) | ||
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29100095[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/529665
- This record as JSON: /data/d/529665.json