ORPHA:500144
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Synonyms: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS |
| fr | Syndrome à début précoce d'encéphalopathie progressive-surdité-hypoplasie du pont-atrophie cérébrale | PEBAS · Syndrome à début précoce d'encéphalopathie progressive-atrophie cérébrale-spasticité |
| de | Früh-beginnende progressive Enzephalopathie-Hörverlust-Ponshypoplasie-Hirnatrophie-Syndrom | Syndrom der früh einsetzenden progressiven Enzephalopathie mit Hirnatrophie und Spastik · PEBAS |
| es | Síndrome de encefalopatía progresiva-hipoacusia-hipoplasia pontina-atrofia cerebral de inicio precoz | PEBAS · Síndrome de encefalopatía progresiva-atrofia cerebral-espasticidad de inicio precoz |
| it | Sindrome encefalopatia progressiva a esordio precoce-ipoacusia-ipoplasia del ponte-atrofia cerebrale | PEBAS · Sindrome da encefalopatia progressiva ad esordio precoce-atrofia cerebrale-spasticità |
| nl | Vroeg optredende progressieve encefalopathie - gehoorverlies - hypoplasie van pons - hersenatrofie-syndroom | PEBAS · Vroeg optredende progressieve encefalopathie - hersenatrofie - spasticiteit-syndroom |
| pt | Síndrome de encefalopatia progressiva de início precoce-perda auditiva-hipoplasia pontina-atrofia cerebral | PEBAS · Síndrome de encefalopatia progressiva de início precoce-atrofia cerebral-espasticidade |
| pl | Zespół wczesnej i postępującej encefalopatii, niedosłuchu, hipoplazji mostu i atrofii mózgu | Zespół postępującej encefalopatii o wczesnym początku, utraty słuchu, hipoplazji mostu i zaniku mózgu |
| cs | Syndrom zahrnující progresivní encefalopatii, ztrátu sluchu, hypoplázii pontu a atrofii mozku s časným nástupem | = en |
| uk | Синдром ранньої прогресуючої енцефалопатії-втрати слуху-гіпоплазії мозочка-атрофії мозку | Синдром ранньої прогресуючої енцефалопатії - атрофії-спастичності головного мозку · PEBAS |
| zh | 早发性进行性脑病-听力减退-桥脑发育不全-脑萎缩综合征 | |
| tr | Erken başlangıçlı ilerleyici ensefalopati-işitme kaybı-pons hipoplazi-beyin atrofi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617669 | E | validated | |
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| MONDO | 0044696 | E | validated | |
| UMLS | C5567229 | 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 (5):
- 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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRAPPC12 | Disease-causing germline mutation(s) in | Assessed | HGNC:24284 | ENSG00000171853 | 614139 | 2p25.3 | trafficking protein particle complex subunit 12 | 28777934[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28777934[PMID]_32347653[PMID]_32369837[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28777934[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.
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HPO phenotypes
30 annotations · validated 2020-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0007096 | Hypoplasia of the optic tract | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0001336 | Myoclonus | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0011451 | Primary microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001257 | Spasticity | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002376 | Developmental regression | |
| HP:0011097 | Epileptic spasm | |
| HP:0030043 | Hip subluxation | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0012796 | Increased cup-to-disc ratio | |
| HP:0000011 | Neurogenic bladder | |
| HP:0000648 | Optic atrophy | |
| HP:0001561 | Polyhydramnios | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001605 | Vocal cord paralysis | |
Annotation source: 28777934[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500144
- This record as JSON: /data/d/500144.json