PEHO-like syndrome

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.



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Narrow down the case reports



Total: 10 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 26917597
(4806221)
 CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG.
Brain. 2016;139(Pt 4):1036-44.
Microcephaly
CCDC88A
c|DEL|2313|T rs879255649
Animals Brain Brain Edema Child Females Homo sapiens Infant Male Mice, Knockout Microfilament Proteins Mus Mutation Neurodegenerative Disorders Optic Atrophy Vesicular Transport Proteins West Syndrome
1
(39.0%)		 18065176
 Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K.
Brain Dev. 2008;30(5):349-55.
Microcephaly
CCDC88A PHGDH
Demyelinating Diseases Electroencephalography Females Homo sapiens Infant Magnetic Resonance Imaging Male West Syndrome
1
(39.0%)		 12868478
 Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.
Longman C, Tolmie J, McWilliam R, MacLennan A.
Clin Dysmorphol. 2003;12(2):133-6.
Progressive microcephaly
CCDC88A
Brain Ischemia Child Diagnostic Errors Electroencephalography Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Optic Atrophy Pregnancy West Syndrome
4
(26.3%)		 30100179
 Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.
Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.
Eur J Paediatr Neurol. 2018;22(6):1133-1138.
Facial edema
c|SUB|A|2084|G;RS#:587777465(Expired) c|SUB|G|1556+5|A;RS#:587777466(Expired) p|SUB|Q|695|R;RS#:587777465(Expired)
Alleles Brain Diseases Cerebellum Child Drug Resistant Epilepsy Edema Females Homo sapiens Male Mutation Optic Atrophy Phenotype Sibling Syndrome Vesicular Transport Proteins
5
(22.8%)		 30392057
 A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhary AG, Al-Qahtani MH, Naseer MI.
Neurol Sci. 2019;40(2):299-303.
Edema Pedal edema
CCDC88A
c|SUB|G|1292|A p|SUB|W|431|X
Brain Edema Child, Preschool Codon, Nonsense Family Females Genetic Predisposition to Disease Homo sapiens Infant Male Microfilament Proteins Neurodegenerative Disorders Optic Atrophy Saudi Arabia Vesicular Transport Proteins West Syndrome
6
(4.0%)		 27343026
(5125779)
 PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W.
Pediatr Neurol. 2016;60:83-7.
Optic atrophy
CCDC88A CDKL5 GNAO1 HESX1
Brain Edema Child Child, Preschool Females GTP-Binding Protein alpha Subunits, Gi-Go Homo sapiens Infant Male Mutation Neurodegenerative Disorders Optic Atrophy Phenotype Protein-Serine-Threonine Kinases West Syndrome
6
(4.0%)		 15968934
 Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?
D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C.
J Child Neurol. 2005;20(5):454-6.
Optic atrophy
CCDC88A
Brain Edema Differential Diagnosis Disease Progression Follow-Up Studies Homo sapiens Infant, Newborn Male Optic Atrophy Syndrome West Syndrome
6
(4.0%)		 12949965
 PEHO and PEHO-like syndromes: report of five Australian cases.
Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Ades LC.
Am J Med Genet A. 2003;122A(1):6-12.
Optic atrophy
CCDC88A
Brain Diseases, Metabolic, Inborn Child, Preschool Edema Females Homo sapiens Infant Male Optic Atrophy West Syndrome
6
(4.0%)		 12818526
 A patient with hydranencephaly and PEHO-like dysmorphic features.
Goizet C, Espil-Taris C, Husson M, Chateil JF, Pedespan JM, Lacombe D.
Ann Genet. 2003;46(1):25-8.
Cerebellar atrophy
CCDC88A
Brain Child, Preschool Congenital Hand Deformities Edema Face Homo sapiens Hypoxia-Ischemia, Brain Infant, Newborn Male Optic Atrophy Syndrome West Syndrome X-Ray Computed Tomography
6
(4.0%)		 8723564
 PEHO or PEHO-like syndrome?
Chitty LS, Robb S, Berry C, Silver D, Baraitser M.
Clin Dysmorphol. 1996;5(2):143-52.
Optic atrophy
Brain Diseases Brain Edema Cardiac Arrhythmia Differential Diagnosis Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Optic Atrophy Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0000648 Optic atrophy 2
HP:0001298 Encephalopathy 2
HP:0000969 Edema 1
HP:0001272 Cerebellar atrophy 1
HP:0002448 Progressive encephalopathy 1
HP:0002521 Hypsarrhythmia 1
HP:0200134 Epileptic encephalopathy 1
HP:0410263 Brain imaging abnormality 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
CCDC88A coiled-coil domain containing 88A 55704