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Atypical hypotonia-cystinuria syndrome

MedGen UID:
1668791
•Concept ID:
C4755274
•
Disease or Syndrome
Synonyms: Atypical HCS; atypical HCS; Atypical hypotonia cystinuria syndrome; atypical hypotonia-cystinuria syndrome
SNOMED CT: Atypical hypotonia cystinuria syndrome (778025006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016539
Orphanet: ORPHA238523

Definition

A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical hypotonia-cystinuria syndrome

Recent clinical studies

Diagnosis

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM
Genet Med 2018 Jan;20(1):109-118. Epub 2017 Jul 20 doi: 10.1038/gim.2017.74. PMID: 28726805

Clinical prediction guides

Multi-system disorder syndromes associated with cystinuria type I.
Martens K, Jaeken J, Matthijs G, Creemers JW
Curr Mol Med 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. PMID: 18781961

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