| 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%) |
21397166 |
PEHO syndrome: a study of five Argentinian patients. Caraballo RH, Pozo AN, Gomez M, Semprino M. Pediatr Neurol. 2011;44(4):259-64. |
| Microcephaly | ||
| Brain Edema Diagnostic Imaging Electroencephalography Epilepsy Females Homo sapiens Hormones Infant Male Neurodegenerative Disorders Optic Atrophy 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 | ||
| 1 (39.0%) |
11310991 |
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. de Vries BB, van'tHoff WG, Surtees RA, Winter RM. Clin Dysmorphol. 2001;10(2):115-21. |
| Microcephaly | ||
| Congenital Disorders of Glycosylation Developmental Disabilities Fatal Outcome Females Homo sapiens Infant Microcephaly Nephrotic Syndrome | ||
| 6 (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 | ||
| 7 (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 | ||
| 8 (17.5%) |
12075493 |
Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. Vanhatalo S, Somer M, Barth PG. Neuropediatrics. 2002;33(2):100-4. |
| Edema Generalized hypotonia | ||
| CCDC88A | ||
| Brain Damage, Chronic Child, Preschool Disease Progression Edema Females Homo sapiens Infant Magnetic Resonance Imaging Male Optic Atrophy Peripheral Vascular Diseases Syndrome West Syndrome | ||
| 8 (17.5%) |
11105628 |
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child. Tekgul H, Tutuncuoglu S. Turk J Pediatr. 2000;42(3):246-9. |
| Blindness Generalized hypotonia | ||
| Child, Preschool Edema Homo sapiens Infant Male Neurodegenerative Disorders Optic Atrophy Syndrome West Syndrome | ||
| 8 (17.5%) |
8552220 |
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Fujimoto S, Yokochi K, Nakano M, Wada Y. Neuropediatrics. 1995;26(5):270-2. |
| Optic atrophy Generalized hypotonia | ||
| Brain Brain Diseases Brain Edema Electroencephalography Females Homo sapiens Infant Male Optic Atrophy Syndrome West Syndrome |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000174 | Abnormal palate morphology | Very frequent (99-80%) |
| HP:0000177 | Abnormality of upper lip | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000496 | Abnormality of eye movement | Very frequent (99-80%) |
| HP:0000572 | Visual loss | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001347 | Hyperreflexia | Very frequent (99-80%) |
| HP:0002120 | Cerebral cortical atrophy | Very frequent (99-80%) |
| HP:0002329 | Drowsiness | Very frequent (99-80%) |
| HP:0002353 | EEG abnormality | Very frequent (99-80%) |
| HP:0002521 | Hypsarrhythmia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0004422 | Biparietal narrowing | Very frequent (99-80%) |
| HP:0006829 | Severe muscular hypotonia | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012469 | Infantile spasms | Very frequent (99-80%) |
| HP:0100022 | Abnormality of movement | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0001272 | Cerebellar atrophy | Frequent (79-30%) |
| HP:0001371 | Flexion contracture | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002132 | Porencephalic cyst | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | Frequent (79-30%) |
| HP:0010741 | Pedal edema | Frequent (79-30%) |
| HP:0012398 | Peripheral edema | Frequent (79-30%) |
| HP:0100540 | Palpebral edema | Frequent (79-30%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000648 | Optic atrophy | 8 |
| HP:0002448 | Progressive encephalopathy | 7 |
| HP:0000969 | Edema | 5 |
| HP:0002521 | Hypsarrhythmia | 5 |
| HP:0001272 | Cerebellar atrophy | 3 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001298 | Encephalopathy | 2 |
| HP:0007105 | Infantile encephalopathy | 2 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain | 1 |
| HP:0010741 | Pedal edema | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |