Peho syndrome - CISMeF

Preferred Label : Peho syndrome;

Symbol : PEHO;

CISMeF acronym : PEHO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile cerebellooptic atrophy; Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger HIT domain-containing protein 3 gene (ZNHIT3, 604500.0001);

Prefixed ID : #260565;

Details

Origin ID

260565;

UMLS CUI

C1850055;

Automatic exact mappings (from CISMeF team)
- PEHO syndrome [ICD-11 More detail]
- PEHO syndrome [DO Concept]
Currated CISMeF NLP mapping
- PEHO syndrome [MeSH concept]
- PEHO syndrome [MeSH Supplementary Concept]
- PEHO syndrome [ORDO Disease]
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- PEHO syndrome [DO Concept]
Genes related to phenotype
- Zinc finger hit domain-containing protein 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bitemporal narrowing [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar atrophy, progressive [HPO term]
- Developmental stagnation [HPO term]
- Edema [HPO term]
- Edema of the dorsum of feet [HPO term]
- Edema of the dorsum of hands [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile encephalopathy [HPO term]
- Intellectual disability, profound [HPO term]
- Myoclonus [HPO term]
- Narrow forehead [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Pachygyria [HPO term]
- Peripheral dysmyelination [HPO term]
- Polymicrogyria [HPO term]
- Progressive infantile encephalopathy [HPO term]
- Progressive microcephaly [HPO term]
- Receding chin [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Short nose [HPO term]
- Tapered finger [HPO term]
- Tented upper lip vermilion [HPO term]
- Undetectable visual evoked potentials [HPO term]
ORDO concept(s)
- PEHO syndrome [ORDO Disease]
- PEHO-like syndrome [ORDO Disease]
See also inter- (CISMeF)
- PEHO-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PEHO syndrome [MeSH Supplementary Concept]
- PEHO syndrome [MeSH concept]
- PEHO syndrome [ORDO Disease]
- PEHO syndrome [MedDRA LLT]
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) [SNOMED CT concept]

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