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Summary
HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
H SYNDROME
602782
OMIM = Online Medalian Inheritance of Men
168569
10q22.1
rare (~100 cases)
autosomal recessive
mutation in the SLC29A3 gene
symptoms
cardiac involvement, cardiac defects
cardiomegaly
clinodactyly
congenital heart defect
contractures, joints
diabetes mellitus
fever
hearing defect, deafness
hepatomegaly (large liver)
hyperglycemia
hyperpigmentation
hypertrichosis
hypogonadism
hypospadia
onset, childhood
onset, infancy
short stature
skin defects
splenomegaly (large spleen)
laboratory finding
D-Glucose mmol/lserum
Literature
Riepe FGPseudohypoaldosteronismEndocr Dev24086-952013
Riepe FGClinical and molecular features of type 1 pseudohypoaldosteronismHorm Res7211-92009
Albuisson J,et al.Clinical utility gene card for: Arterial tortuosity syndromeEur J Hum Genet21102015
Zoppi N,et al.GLUT10 deficiency leads to oxidative stress and non-canonical +¦v+¦3 integrin-mediated TGF+¦ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblastsHum Mol Genet24236769-67872015
Furgeson SB,Linas SMechanisms of type I and type II pseudohypoaldosteronismJ Am Soc Nephrol0211842-18452010
Hanukoglu I,Hanukoglu AEpithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseasesGene579295-1322016