Visit Metagene.de!
Summary
VICI SYNDROME VICIS (EPG5)
IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
242840
OMIM = Online Medalian Inheritance of Men
1493
18q12.3-q21.1
rare (78 patients)
autosomal recessive
mutation in the EPG5 gene
symptoms
albinism
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
cataract
cleft lip
cleft palate
coarse facial features
corpus callosum, agenesis/hypoplasia
defect of thymus gland
dysmorphism
early death
failure to thrive
growth retardation, poor growth
hearing defect, deafness
heart failure, cardiac failure
hepatomegaly (large liver)
hypertelorism
hypopigmentation
hypospadia
hypotonia
infections (respiratory tract/system)
microcephaly (<2 SD for age)
myopathy
nystagmus
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
renal dysfunction, renal defects
renal tubular acidosis
seizures
laboratory finding
MRI, brain, abnormalities -
Immunglobulin IgG serum
Hemoglobine g/dlblood
Literature
Neve B,et al.Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell functionProc Natl Acad Sci U S A102134807-48122005
Kim SH,et al.Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23Diabetes5351375-13842004
Malecki MT,et al.Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitusNat Genet233323-3281999
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Plengvidhya N,et al.PAX4 mutations in Thais with maturity onset diabetes of the youngJ Clin Endocrinol Metab9272821-28262007
Lorenzo PI,et al.The Diabetes-Linked Transcription Factor PAX4: From Gene to Functional ConsequencesGenes (Basel)832017
Chen YZ,et al.Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5Chin Med J (Engl)123223326-33332010
Byers HM,et al.Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb ContracturesJIMD Rep3001092016
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Raeder H,et al.Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunctionNat Genet38154-622006
Molven A,et al.Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetesDiabetes5741131-11352008
Fajans SSBell GI, Polonsky KSMolecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngN Engl J Med34513971-9802001
Sosa-Pineda BThe gene Pax4 is an essential regulator of pancreatic beta-cell developmentMol Cells183289-2942004
Edghill EL,et al.Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthoodDiabetes5741034-10422008