mucopolysaccharidosis I

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.

PSPH deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.

metabolic dysfunction-associated steatotic liver disease

A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:n(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.n(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).n(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.n(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.n(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment.

serine deficiency

An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.

X-linked mental retardation-hypotonic facies syndrome-1

A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

PHGDH deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.

Brugada syndrome 3

A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.

Brugada syndrome 4

A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.

dopa-responsive dystonia

A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.

plasma cell leukemia

A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.