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Summary
MICROPHTHALMIA, SYNDROMIC 9 (MCOPS9)
MATTHEW-WOOD SYNDROME SPEAR SYNDROME
601186
OMIM = Online Medalian Inheritance of Men
2470
15q24.1
very rare
autosomal recessive
mutation in the STRA6 gene
symptoms
atrial septal defect
cleft eyelid (coloboma)
congenital heart defect
cryptorchism
defect of trunk muscle, diaphragm or hiatus hernia
dysmorphism
early death
hydronephrosis
hypotonia
inguinal hernia
intrauterine growth retardation
kidney, dysplastic, hypoplastic
mental retardation
microphthalmus
onset, fetus
onset, neonatal
pulmonary hypertension
pulmonary hypoplasia
pulmonary valve, stenosis
respiratory insufficiency
short stature
valvular heart disease
ventricular septal defect
laboratory finding
Literature
Rokicki D,et al.3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyClin Chim Acta471095-1002017
Ghaziuddin M,Al-Owain MAutism spectrum disorders and inborn errors of metabolism: an updatePediatr Neurol494232-2362013
Kohn DB,Gaspar HBHow We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID)J Clin Immunol374351-3562017
Duval N,et al.Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disordersMol Genet Metab1083178-1892013
Bradford KL,et al.Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical ManifestationsJ Clin Immunol. 2017 Oct37(7):626-637377626-6372017
van Gennip AH,et al.Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiencyClin Chim Acta933419-4281979
Fumagalli M,et al.Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain DiseasesFront Pharmacol809412017
Micheli V,et al.Neurological disorders of purine and pyrimidine metabolismCurr Top Med Chem118923-9472011