Details of Disease | DrugMAP

General Information of Disease (ID: DIS1SRCH)

Disease Name	PEHO-like syndrome
Synonyms	PEHOL; peho-like syndrome; PEHO syndrome-like; progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Definition	PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS1SRCH: PEHO-like syndrome
Disease Identifiers	MONDO ID MONDO_0020495 UMLS CUI C1850056 OMIM ID 617507 MedGen ID 337956 Orphanet ID 99807 SNOMED CT ID 770678005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC88A	OT3SSYYC	Strong	Autosomal recessive	[1]
SEPSECS	OTP0FHOV	Strong	Genetic Variation	[2]
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References

1	CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain. 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014. Epub 2016 Feb 25.
2	Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.Eur J Paediatr Neurol. 2018 Nov;22(6):1133-1138. doi: 10.1016/j.ejpn.2018.07.003. Epub 2018 Jul 26.