Details of Disease

General Information of Disease (ID: DISUPMRI)

Disease Name Hypotonia-cystinuria syndrome
Synonyms
homozygous 2P21 deletion syndrome; homozygous 2P16 deletion syndrome, formerly; homozygous 2P16 deletion syndrome; hypotonia-cystinuria syndrome type 1; HCS; hypotonia-cystinuria syndrome; hypotonia-cystinuria type 1 syndrome; cystinuria with mitochondrial disease
Definition
A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Disease Hierarchy
DISP5E0H: Inborn mitochondrial metabolism disorder
DIS6SVEE: Syndromic disease
DISKY5XB: Partial deletion of the short arm of chromosome 2
DIS1BLHT: Inborn disorder of amino acid transport
DISUPMRI: Hypotonia-cystinuria syndrome
Disease Identifiers
MONDO ID
MONDO_0011669
MESH ID
C564710
UMLS CUI
C1848030
OMIM ID
606407
MedGen ID
341133
Orphanet ID
163690
SNOMED CT ID
721173005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PREPL TT3HYDO Strong Autosomal recessive [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYCS OTBFALJD Limited Genetic Variation [2]
HLCS OTPDUX30 Limited Genetic Variation [2]
CAMKMT OTLJBRUW Strong Biomarker [3]
PPM1B OTZMH6V3 Strong Genetic Variation [3]
PREPL OTN5XMLZ Strong Autosomal recessive [1]
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References

1 PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.
2 Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21.
3 PREPL deficiency: delineation of the phenotype and development of a functional blood assay. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20.