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Seizures-intellectual disability due to hydroxylysinuria syndrome

MedGen UID:
343450
Concept ID:
C1855986
Finding
Synonym: Hydroxylysinuria
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).
 
HPO: HP:0032414
Monarch Initiative: MONDO:0009373
OMIM®: 236900
Orphanet: ORPHA79156

Definition

The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. [from HPO]

Clinical features

From HPO
Hyperlysinuria
MedGen UID:
867368
Concept ID:
C4021733
Finding
An increased concentration of lysine in the urine.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSeizures-intellectual disability due to hydroxylysinuria syndrome
Follow this link to review classifications for Seizures-intellectual disability due to hydroxylysinuria syndrome in Orphanet.

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