Hereditary disease
Metabolic disease
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Hereditary metabolic disease (disorder)
Hereditary metabolic disease
Hereditary metabolic disorder
hereditaire stoornis van metabolisme
hereditaire stofwisselingsstoornis
Id
1821000146108
Status
Defined
DHD Diagnosis thesaurus reference set
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2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria
3
2-methyl-3-hydroxybutyric aciduria
3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 4
1
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 7
5-amino-4-imidazole carboxamide ribosiduria
Abetalipoproteinemia
1
Acute intermittent porphyria
1
Acute neuronopathic Gaucher's disease
Adenosine deaminase deficiency
1
Adenylosuccinate lyase deficiency
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Alstrom syndrome
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autosomal dominant beta2-microglobulinic amyloidosis
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hypocalcemia
1
Autosomal dominant hypophosphatemic bone disease
2
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant progressive external ophthalmoplegia
5
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hypophosphatemic bone disease
1
Autosomal recessive infantile hypercalcemia
Autosomal recessive optic atrophy type 7
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
Bartter syndrome
4
Beta-aminoisobutyric aciduria
Beta-mercaptolactate cysteine disulfiduria
Beta-propeller protein-associated neurodegeneration
Brain dopamine-serotonin vesicular transport disease
CAH - desmolase deficiency
2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood myocerebrohepatopathy spectrum
Childhood-onset spasticity with hyperglycinemia
Chondrodysplasia punctata, X-linked dominant type
Citrullinemia
5
Coenzyme A synthase protein associated neurodegeneration
Coenzyme Q10 deficiency
2
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 28
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 5
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency type 20
Congenital analbuminemia
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
Congenital end-plate acetylcholinesterase deficiency
Congenital lactase deficiency
Cystinuria, type 1
2
Cytochrome P450 oxidoreductase deficiency
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Deficiency of 11-beta hydroxysteroid dehydrogenase
Deficiency of AMP pyrophorylase
3
Deficiency of dimethylglycine dehydrogenase
Deficiency of glucosyltransferase 1
Deficiency of leukotriene C4 synthase
Deficiency of phosphoadenosine-phosphosulfate reductase 2
Deficiency of phosphomannomutase 2
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Desmosterolosis
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Diabetes mellitus AND insipidus with optic atrophy AND deafness
Diabetes mellitus associated with cystic fibrosis
Diabetes-deafness syndrome maternally transmitted
1
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Dihydropyrimidine dehydrogenase deficiency
Double heterozygous familial hypercholesterolemia
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Ehlers-Danlos syndrome
19
Enamel-renal syndrome
Epileptic encephalopathy with global cerebral demyelination
Erythropoietic uroporphyria associated with myeloid malignancy
Essential benign fructosuria
Exercise-induced hyperinsulinism
Familial benign copper deficiency
Familial hypertryptophanemia
Familial hypokalemic alkalosis, Gullner type
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement
Familial porphyria cutanea tarda
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Familial primary hypomagnesemia with normocalciuria
1
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial x-linked hypophosphatemic vitamin D refractory rickets
1
FASTKD2-related infantile mitochondrial encephalomyopathy
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Ferro-cerebro-cutaneous syndrome
Galactosylceramide beta-galactosidase deficiency
2
Glucose transporter protein type 1 deficiency syndrome
1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Hawkinsinuria
Hepatic lipase deficiency
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary acrodermatitis enteropathica
Hereditary coproporphyria
2
Hereditary fructosuria
Hereditary hemochromatosis
7
Hereditary hyperhomocysteinemia
Hereditary hypertyrosinemia
4
Hereditary nephrogenic diabetes insipidus
Hereditary xanthinuria
4
Homocystinuria without methylmalonic aciduria
1
Homogentisate 1,2-dioxygenase deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperandrogenism due to cortisone reductase deficiency
Hyperinsulinism and hyperammonemia syndrome
Hyperinsulinism due to deficiency of glucokinase
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to insulin receptor deficiency
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Hyperinsulinism due to uncoupling protein 2 deficiency
Hypermanganesemia with dystonia
2
Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase
Hyperphenylalaninemia due to DNAJC12 deficiency
Hyperphosphatasemia with intellectual disability
Hyperprolinemia type 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
Hyperuricemia, anemia, renal failure syndrome
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hyperzincemia and hypercalprotectinemia
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypomagnesemia co-occurrent with normocalciuria
Hypomagnesemia with secondary hypocalcemia
Inborn error of metabolism
93
Infantile glycine encephalopathy
1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile onset spinocerebellar ataxia
Inherited aminoaciduria
3
Inherited cutis laxa
8
Inherited disorder of porphyrin metabolism
2
Inherited methylmalonic acidemia AND homocystinuria
Insulin resistance - type A
Interleukin-1 receptor-associated kinase 4 deficiency
Iron overload related to ferritin heavy chain 1
Isolated autosomal dominant hypomagnesemia Glaudemans type
Isolated hyperchlorhidrosis
Juvenile cataract, microcornea, renal glucosuria syndrome
Lathosterolosis
Leigh syndrome with nephrotic syndrome
Lesch-Nyhan syndrome
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
Lipodystrophy, intellectual disability, deafness syndrome
Lowe syndrome
Maternally inherited cardiomyopathy and hearing loss syndrome
Maternally inherited mitochondrial cardiomyopathy
Maternally inherited mitochondrial cardiomyopathy and myopathy
Maternally inherited mitochondrial dystonia
Maternally inherited mitochondrial myopathy
Maturity onset diabetes of the young, type 1
Maturity onset diabetes of the young, type 2
Maturity-onset diabetes of the young, type 10
Maturity-onset diabetes of the young, type 11
Maturity-onset diabetes of the young, type 3
Maturity-onset diabetes of the young, type 5
Maturity-onset diabetes of the young, type 8
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
MEHMO syndrome
Menkes kinky-hair syndrome
Metachromatic leukodystrophy, adult type
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
Methylmalonic aciduria due to transcobalamin receptor defect
Mevalonic aciduria
Mitochondrial myopathy with sideroblastic anemia syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial phosphate carrier deficiency
MT-ATP6-related mitochondrial spastic paraplegia
Muscle AMP deaminase deficiency
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus
Myoclonic epilepsy with ragged red fibers
Neu-Laxova syndrome
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
North American Indian childhood cirrhosis
NUDT15 deficiency
Ocular anomalies, axonal neuropathy, developmental delay syndrome
Orotic aciduria
2
Osteopetrosis with renal tubular acidosis
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome
Partial androgen insensitivity syndrome
1
Perilipin 1 related familial partial lipodystrophy
Perinatal lethal Gaucher disease
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
Phenylketonuria due to tetrahydrobiopterin deficiency
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoserine aminotransferase deficiency
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
Placental sulfatase deficiency
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
Progressive external ophthalmoplegia, myopathy, emaciation syndrome
Progressive intrahepatic cholestasis
3
Progressive polyneuropathy with bilateral striatal necrosis
Progressive retinal dystrophy due to retinol transport defect
Pseudohypoaldosteronism, type 1, dominant form
Pseudohypoaldosteronism, type 1, recessive form
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type I A
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Purine-nucleoside phosphorylase deficiency
Pyridoxal 5-phosphate dependent epilepsy
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
Renal tubular acidosis with progressive nerve deafness
Seizures and intellectual disability due to hydroxylysinuria
Selective malabsorption of cyanocobalamin
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Sjögren-Larsson syndrome
Steroid dehydrogenase deficiency and dental anomaly syndrome
Stewart-Morel-Morgagni syndrome
Stimmler syndrome
Sucrase-isomaltase deficiency
Syndrome of apparent mineralocorticoid excess
Tetrahydrobiopterin synthesis defect
4
Thymidine kinase 2 deficiency
TMEM70 related mitochondrial encephalo-cardio-myopathy
Transcobalamin II deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Tyrosinemia type III
Virilization-adrenogenital syndrome
2
Vitamin D-dependent rickets
2
Wilson's disease
2
Wolfram-like syndrome
Woodhouse Sakati syndrome
X-linked creatine deficiency
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
Zellweger-like syndrome without peroxisomal anomaly
