Ogden syndrome

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 29558889
(5859388)
 NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
McTiernan N, Stove SI, Aukrust I, Marli MT, Myklebust LM, Houge G, Arnesen T.
BMC Med Genet. 2018;19(1):47.
Intellectual disability
NAA10
c|SUB|T|332|G p|SUB|V|111|G rs1557107528
Acetylation Amino Acid Sequence Child Developmental Disabilities Females Genes, X-Linked Homo sapiens Immunoprecipitation Intellectual Disability N-Terminal Acetyltransferase A N-Terminal Acetyltransferase E Protein Conformation Sequence Alignment Syndrome Whole Exome Sequencing
1
(4.0%)		 28967461
 Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.
Sidhu M, Brady L, Tarnopolsky M, Ronen GM.
Pediatr Neurol. 2017;76:82-85.
Autism
NAA10 NAA15
c|SUB|C|247|T;RS#:797044868 p|SUB|R|83|C;RS#:797044868 rs1057518605 rs797044868
Autism Spectrum Disorders Brain Developmental Disabilities Disease Progression Electroencephalography Females Homo sapiens Magnetic Resonance Imaging Mutation N-Terminal Acetyltransferase A
1
(4.0%)		 25099252
(4402627)
 De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A.
Eur J Hum Genet. 2015;23(5):602-9.
Intellectual disability
NAA10 NAA15
p|SUB|S|37|P;RS#:387906701 rs1057518605 rs587780562 rs587780563 rs797044868
Amino Acid Sequence Child Child, Preschool DNA Mutational Analysis Developmental Disabilities Exons Facies Females Genetic Association Studies Genetic Loci Homo sapiens Male Missense Mutation Models, Molecular Molecular Sequence Data N-Terminal Acetyltransferase A N-Terminal Acetyltransferase E Phenotype Protein Conformation Sequence Alignment
1
(4.0%)		 24431331
(4278941)
 A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T.
J Med Genet. 2014;51(3):185-96.
Anophthalmia
BCOR BMP4 NAA10 STRA6
c|SUB|T|471+2|A;RS#:587776457 rs1057518605 rs587776457 rs797044868
Anophthalmos Cell Proliferation Cultured Cells Females Fibroblasts Homo sapiens Male Microphthalmos Mutation N-Terminal Acetyltransferase A N-Terminal Acetyltransferase E Phenotype RNA Splice Sites Signal Transduction
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000270 Delayed cranial suture closure Frequent (79-30%)
HP:0000473 Torticollis Frequent (79-30%)
HP:0001262 Excessive daytime somnolence Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0002059 Cerebral atrophy Frequent (79-30%)
HP:0002213 Fine hair Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0010055 Broad hallux Frequent (79-30%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000280 Coarse facial features Occasional (29-5%)
HP:0000290 Abnormality of the forehead Occasional (29-5%)
HP:0000308 Microretrognathia Occasional (29-5%)
HP:0000341 Narrow forehead Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0000430 Underdeveloped nasal alae Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000708 Behavioral abnormality Occasional (29-5%)
HP:0000729 Autistic behavior Occasional (29-5%)
HP:0000973 Cutis laxa Occasional (29-5%)
HP:0001254 Lethargy Occasional (29-5%)
HP:0001276 Hypertonia Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0002000 Short columella Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002194 Delayed gross motor development Occasional (29-5%)
HP:0002362 Shuffling gait Occasional (29-5%)
HP:0002457 Abnormal head movements Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0004415 Pulmonary artery stenosis Occasional (29-5%)
HP:0009931 Enlarged naris Occasional (29-5%)
HP:0010803 Everted upper lip vermilion Occasional (29-5%)
HP:0011675 Arrhythmia Occasional (29-5%)
HP:0025104 Capillary malformation Occasional (29-5%)
HP:0030149 Cardiogenic shock Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001249 Intellectual disability 2


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 8260