hypotonia-cystinuria syndrome

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hypotonia-cystinuria syndrome2016-11-26T06:02:57+00:00

hypotonia-cystinuria syndrome

MOLECULAR MEDICINE

Definition An autosomal recessive condition (MIM:606407) characterised by generalised hypotonia at birth, kidney stones, growth hormone deficiency, facial dysmorphia, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.

Molecular pathology Hypotonia-cystinuria is contiguous gene syndrome in which two or more genes affected. Here, the deletion disrupts both SLC3A1–which encodes a sodium-independent transporter of cystine and neutral and dibasic amino acids in the renal tubule and intestinal tract (SLC3A1) defects causes isolated cystinuria I), and PREPL—which encodes a prolyl oligopeptidase type serine peptidase, the substrate of which is currently unknown, resulting in an extended phenotype. 

Synonyms 2p21 deletion syndrome, cystinuria with mitochondrial disease, HCS, homozygous 2p16 deletion syndrome

References http://www.uniprot.org/uniprot/Q4J6C6

http://www.omim.org/entry/606407

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