ORPHA:2836
PEHO syndrome
Synonyms: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PEHO syndrome | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy |
| fr | Syndrome PEHO | Syndrome d'encéphalopathie progressive-oedème-hypsarythmie-atrophie optique |
| de | PEHO-Syndrom | Progressive Enzephalopathie mit Ödemen, Hypsarrhythmie und Optikusatrophie |
| es | Síndrome PEHO | Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica |
| it | Sindrome PEHO | Encefalopatia progressiva - atrofia ottica · Encefalopatia progressiva con edema, ipsaritmia e atrofia ottica |
| nl | PEHO-syndroom | Progressieve encefalopathie met oedeem, hypsaritmie en opticusatrofie |
| pt | Síndrome PEHO | Síndrome de encefalopatia progressiva com edema, hipsarritmia e atrofia óptica |
| pl | Zespół PEHO | Encefalopatia postępująca - atrofia nerwu wzrokowego · Encefalopatia postępująca z obrzękiem, hipsarytmią i atrofią nerwu wzrokowego |
| cs | PEHO syndrom | Progresivní encefalopatie s edémem, hypsarytmií a atrofií optického nervu · Syndrom zahrnující progresivní encefalopatii a atrofii optického nervu |
| uk | Синдром PEHO | Прогресуюча енцефалопатія з набряками, гіподинамією та атрофією зорового нерва |
| zh | PEHO综合征 | 进行性脑病伴水肿、心律失常和视神经萎缩 |
| tr | PEHO sendromu | ilerleyici ensefalopati-optik atrofi sendromu · Ödem, hipsaritmi ve optik atrofi ile seyreden ilerleyici ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260565 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0009841 | E | validated | |
| MeSH | C536317 | E | validated | |
| UMLS | C1850055 | E | validated | |
| GARD | 4264 | E | validated | |
| MedDRA | 10086607 | 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:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZNHIT3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12309 | ENSG00000273611 | 604500 | 17q12 | zinc finger HIT-type containing 3 | 28335020[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0100022 | Abnormality of movement | |
| HP:0000177 | Abnormality of upper lip | |
| HP:0004422 | Biparietal narrowing | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002329 | Drowsiness | |
| HP:0002353 | EEG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0012469 | Infantile spasms | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0011800 | Midface retrusion | |
| HP:0000194 | Open mouth | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003196 | Short nose | |
| HP:0001182 | Tapered finger | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001371 | Flexion contracture | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000238 | Hydrocephalus | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0100540 | Palpebral edema | |
| HP:0010741 | Pedal edema | |
| HP:0012398 | Peripheral edema | |
| HP:0002132 | Porencephaly | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2836
- This record as JSON: /data/d/2836.json