Okamoto syndrome

Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 19046188
 Okamoto syndrome in a girl of Caucasian origin.
Markouri M, Karpathios T, Dinopoulos A, Attilakos A, Fretzayas A, Bakoula C, Kitsiou-Tzeli S.
Dev Med Child Neurol. 2008;50(12):950-2.
Trigonocephaly
PTPN22
Child, Preschool Cleft Palate Craniofacial Abnormalities DNA Mutational Analysis Differential Diagnosis Facies Females Follow-Up Studies Homo sapiens Hydronephrosis Infant Intellectual Disability Kidney Phenotype Syndrome
2
(27.8%)		 15770130
 A new case of Okamoto syndrome.
Wallerstein R, Shih LY, Fong MH, Zheng S, Poon E.
Clin Dysmorphol. 2005;14(2):85-7.
Open mouth
Brain Cleft Palate Congenital Heart Defects Developmental Disabilities Differential Diagnosis Facies Homo sapiens Hydronephrosis Infant Male Splenomegaly Syndrome
3
(17.5%)		 30793470
 Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.
Okamoto N.
Am J Med Genet A. 2019;179(5):822-826.
Hydronephrosis Generalized hypotonia
Child, Preschool Cleft Palate DNA Mutational Analysis Differential Diagnosis Exons Facies Females Genetic Association Studies Genetic Predisposition to Disease Heterogeneous-Nuclear Ribonucleoprotein K Homo sapiens Hydronephrosis Intellectual Disability Introns Male Mutation Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 62

HPO ID Term Frequency
HP:0000074 Ureteropelvic junction obstruction Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000194 Open mouth Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000465 Webbed neck Very frequent (99-80%)
HP:0000637 Long palpebral fissure Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0000998 Hypertrichosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001270 Motor delay Very frequent (99-80%)
HP:0001382 Joint hypermobility Very frequent (99-80%)
HP:0001627 Abnormal heart morphology Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0008850 Severe postnatal growth retardation Very frequent (99-80%)
HP:0008947 Infantile muscular hypotonia Very frequent (99-80%)
HP:0011039 Abnormality of the helix Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0001385 Hip dysplasia Frequent (79-30%)
HP:0001539 Omphalocele Frequent (79-30%)
HP:0002020 Gastroesophageal reflux Frequent (79-30%)
HP:0002711 Exaggerated median tongue furrow Frequent (79-30%)
HP:0010442 Polydactyly Frequent (79-30%)
HP:0010807 Open bite Frequent (79-30%)
HP:0000020 Urinary incontinence Occasional (29-5%)
HP:0000136 Bifid uterus Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000336 Prominent supraorbital ridges Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000483 Astigmatism Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0001090 Abnormally large globe Occasional (29-5%)
HP:0001562 Oligohydramnios Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001633 Abnormal mitral valve morphology Occasional (29-5%)
HP:0001650 Aortic valve stenosis Occasional (29-5%)
HP:0001711 Abnormal left ventricle morphology Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002025 Anal stenosis Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002144 Tethered cord Occasional (29-5%)
HP:0002219 Facial hypertrichosis Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0003396 Syringomyelia Occasional (29-5%)
HP:0005280 Depressed nasal bridge Occasional (29-5%)
HP:0005325 Extension of hair growth on temples to lateral eyebrow Occasional (29-5%)
HP:0005487 Prominent metopic ridge Occasional (29-5%)
HP:0005989 Redundant neck skin Occasional (29-5%)
HP:0010445 Primum atrial septal defect Occasional (29-5%)
HP:0010804 Tented upper lip vermilion Occasional (29-5%)
HP:0010864 Intellectual disability, severe Occasional (29-5%)
HP:0012583 Unilateral renal hypoplasia Occasional (29-5%)
HP:0100876 Infra-orbital crease Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000126 Hydronephrosis 1
HP:0000194 Open mouth 1
HP:0001290 Generalized hypotonia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID