Details of Disease | DrugMAP

General Information of Disease (ID: DISPO5IP)

Disease Name	PEHO syndrome
Synonyms	peho-like syndrome; peho; infantile Cerebellooptic atrophy; progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy; progressive encephalopathy-optic atrophy syndrome; progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; peho syndrome
Definition	PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISPN7D2: Inherited neurodegenerative disorder DISPO5IP: PEHO syndrome
Disease Identifiers	MONDO ID MONDO_0009841 MESH ID C536317 UMLS CUI C1850055 OMIM ID 260565 MedGen ID 342404 Orphanet ID 2836 SNOMED CT ID 442511009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZNHIT3	OTJXE1PX	Moderate	Autosomal recessive	[1]
CCDC88A	OT3SSYYC	Limited	Genetic Variation	[2]
HESX1	OT5E2Z4G	Limited	Genetic Variation	[3]
RARS2	OT3WLAD8	Limited	Genetic Variation	[4]
KIF1A	OT3JVEGV	Supportive	Autosomal dominant	[5]
SEPSECS	OTP0FHOV	Strong	Genetic Variation	[6]
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⏷ Show the Full List of 6 DOT(s)

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.Neurol Sci. 2019 Feb;40(2):299-303. doi: 10.1007/s10072-018-3626-5. Epub 2018 Nov 3.
3	PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.Pediatr Neurol. 2016 Jul;60:83-7. doi: 10.1016/j.pediatrneurol.2016.03.011. Epub 2016 Apr 9.
4	A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.Eur J Med Genet. 2020 Mar;63(3):103766. doi: 10.1016/j.ejmg.2019.103766. Epub 2019 Sep 16.
5	De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. Eur J Hum Genet. 2016 Jun;24(6):949-53. doi: 10.1038/ejhg.2015.217. Epub 2015 Oct 21.
6	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.