IMDs

6. Disorders of metabolic cell signaling

6.1 Neurotransmitter disorders

a. Monoamine neurotransmission

  • Tyrosine hydroxylase deficiency
  • DNAJC12 deficiency (Non-tetrahydrobiopterin-deficient hyperphenylalaninemia)
  • Aromatic L-amino acid decarboxylase deficiency (DOPA decarboxylase deficiency)
  • Dopamine beta-hydroxylase deficiency
  • Monoamine oxidase A deficiency (Brunner syndrome)
  • Combined monoamine oxidase A and B deficinecy
  • Dopamine transporter deficiency (Infantile Parkinsonism-dystonia)
  • Vesicular monoamine transporter 2 deficiency
  • Cytochrome b561 deficiency
  • Norepinephrine transporter deficiency

b. Gamma-aminobutyric acid neurotransmitter disorders

  • GABA transaminase deficiency
  • Succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
  • GABA type A receptor subunit alpha 1 deficiency (Early infantile epileptic encephalopathy type 19)
  • GABA type A receptor alpha6 subunit deficiency
  • GABA type A receptor subunit beta 1 deficiency (Early infantile epileptic encephalopathy type 45)
  • GABA type A receptor subunit beta 2 deficiency (Infantile or early childhood epileptic encephalopathy type 2)
  • GABA type A receptor subunit beta 3 deficiency (Early infantile epileptic encephalopathy type 43)
  • GABA type A receptor subunit gamma 2 deficiency
  • GABA type A receptor subunit delta deficiency
  • GABA type B receptor subunit 2 deficiency

c. Glutamate neurotransmitter disorders

  • Ionotropic glutamate receptor NMDA type subunit 1 dysregulation Autosomal dominant intellectual disability type 8; neurodevelopmental disorder with or without hyperkinetic movements and seizures
  • Ionotropic glutamate receptor NMDA type subunit 2A dysregulation
  • Ionotropic glutamate receptor NMDA type subunit 2B dysregulation (Early infantile epileptic encephalopathy type 27; autosomal dominant intellectual disability type 6)
  • Ionotropic glutamate receptor NMDA type subunit 2D superactivity (Early infantile epileptic encephalopathy type 46)
  • Ionotropic glutamate receptor AMPA type subunit 2 deficiency
  • Ionotropic glutamate receptor AMPA type subunit 3 deficiency (Syndromic X-linked intellectual disability, Wu type)
  • Ionotropic glutamate receptor AMPA type subunit 4 dysregulation (Neurodevelopmental disorder with or without seizures and gait abnormalities – NEDSGA)
  • Ionotropic glutamate receptor delta type subunit 2 deficiency (Autosomal recessive spinocerebellar ataxia type 18)
  • Thorase deficiency (Hyperekplexia type 4)
  • Metabotropic glutamate receptor 1 deficiency (Autosomal recessive spinocerebellar ataxia type 13)
  • Metabotropic glutamate receptor 1 superactivity (Autosomal recessive spinocerebellar ataxia type 44)
  • Metabotropic glutamate receptor 6 deficiency (Congenital stationary night blindness type 1B)

d. Glycine neurotransmitter disorders

  • Glycine transporter 1 deficiency
  • Glycine transporter 2 deficiency (Hereditary hyperekplexia type 3)
  • Glycine receptor subunit alpha 1 deficiency (Hereditary hyperekplexia type 1)
  • Glycine receptor subunit beta deficiency (Hereditary hyperekplexia type 2)

e. Disorders of choline neurotransmission

  • Choline transporter deficiency
  • Choline acetyltransferase deficiency
  • RIC3 acetylcholine receptor chaperone deficiency
  • Acetylcholine receptor subunit epsilon deficiency

f. Disorders of the synaptic vesicle cycle

  • TBC1D24 deficiency
  • KIF1A deficiency
  • KIF5A deficiency
  • KIF5C deficiency
  • DYNC1H1 deficiency
  • Dynamin 1 deficiency Early infantile epileptic encephalopathy type 31
  • Dynamin 2 deficiency
  • NAPB deficiency
  • PRRT2 deficiency
  • Rabenosyn 5 deficiency
  • SNAP25 deficiency
  • CEDNIK syndrome
  • Syntaxin-binding protein 1 deficiency
  • Synaptic vesicle glycoprotein 2A deficiency
  • Synaptobrevin 1 deficiency
  • Synaptobrevin 2 deficiency
  • Syntaxin 1B deficiency
  • Synapsin 1 deficiency
  • IL1RAPL1 deficiency
  • Paroxysmal nonkinesigenic dyskinesia type 1
  • Synaptotagmin 1 deficiency
  • Synaptotagmin 2 deficiency
  • Synaptotagmin 14 deficiency (Autosomal recessive spinocerebellar ataxia type 11)
  • Torsin 1A deficiency (Artrhogryposis multiplex congenita type 5, recessive; torsion dystonia type 1, dominant)
  • LRRK2 deficiency
  • DNAJC6 deficiency
  • Clathrin heavy chain deficiency
  • SORCS receptor 3 deficiency

6.2 Endocrine metabolic disorders

a. Disorders of insulin metabolism

  • ATP-sensitive potassium channel regulatory subunit deficiency (Familial hyperinsulinemic hypoglycemia type 1)
  • ATP-sensitive potassium channel regulatory subunit superactivity (Developmental delay, epilepsy and neonatal diabetes – DEND, permanent or transient neonatal diabetes without neurologic features, severe; maturity-onset diabetes of the young type 12, milder)
  • ATP-sensitive potassium channel pore-forming subunit deficiency (Familial hyperinsulinemic hypoglycemia type 2)
  • ATP-sensitive potassium channel pore-forming subunit superactivity (Developmental delay, epilepsy and neonatal diabetes – DEND, permanent or transient neonatal diabetes without neurologic features, severe); maturity-onset diabetes of the young type 13, milder)
  • Hepatocyte nuclear factor-4 alpha deficiency
  • Hepatocyte nuclear factor-1 alpha deficiency
  • Hepatocyte nuclear factor-1 beta deficiency
  • Uncoupling protein 2 deficiency
  • Primary congenital insulin deficiency (Permanent neonatal diabetes mellitus, severe); maturity-onset diabetes of the young type 1, milder)
  • Proinsulin cleavage deficiency (Hyperproinsulinemia)
  • Insulin receptor deficiency (Familial hyperinsulinemic hypoglycemia type 5)
  • Insulin promoter factor 1 deficiency (Maturity-onset diabetes of the young type 4, dominant; pancreatic agenesis, recessive)
  • Neurogenic differentiation factor 1 deficiency (Maturity-onset diabetes of the young type 6, dominant; permanent neonatal diabetes and neurologic anomalies, recessive)
  • Krüppel-like factor 11 deficiency (Maturity-onset diabetes of the young type 7)
  • PAX4 deficiency (Maturity-onset diabetes of the young type 9)
  • BLK deficiency (Maturity-onset diabetes of the young type 11)
  • APPL1 deficiency (Maturity-onset diabetes of the young type 14)
  • AKT2 superactivity (Hypoinsulinemic hypoglycemia with hemihypertrophy)
  • RFX6 deficiency (Mitchell-Riley syndrome, recessive; maturity-onset diabetes of the young, dominant)

b. Disorders of steroid metabolism

  • 21-hydroxylase deficiency (Congenital adrenal hyperplasia due to 21-hydroxylase deficiency)
  • 11-beta-hydroxylase deficiency (Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency)
  • 11-beta-hydroxylase superactivity (Glucocorticoid remediable aldosteronism; familial hyperaldosteronism type 1)
  • 3-beta-hydroxysteroid dehydrogenase deficiency (Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency)
  • 17-hydroxylase/17,20-lyase deficiency
  • Steroidogenic acute regulatory protein deficiency (Lipoid adrenal hyperplasia)
  • Cytochrome P450 oxidoreductase deficiency
  • Steroid 18-hydroxylase deficiency (Aldosterone synthase deficiency; corticosterone methyloxidase type 1 deficiency)
  • Steroid 18-oxidase deficiency (Corticosterone methyloxidase type 2 deficiency)
  • Hexose-6-phosphate dehydrogenase deficiency (Cortisone reductase deficiency type 1)
  • 11-beta-hydroxysteroid dehydrogenase deficiency (Cortisone reductase deficiency type 2)
  • Glucocorticoid receptor deficiency (Glucocorticoid resistance)
  • Mineralocorticoid receptor deficiency (Autosomal dominant pseudohypoaldosteronism type 1)
  • Mineralocortoid receptor superactivity (Early-onset hypertension with exacerbation in pregnancy)
  • ACTH receptor deficiency (Melanocortin-2 receptor deficiency; hereditary glucocorticoid deficiency type 1)
  • Melanocortin-2 receptor accessory protein deficiency (Hereditary glucocorticoid deficiency type 2)
  • Aromatase deficiency
  • Aromatase superactivity
  • Estrogen receptor deficiency (Estrogen resistance)
  • Estrogen receptor 2 deficiency
  • Progesterone receptor deficiency
  • Side-chain cleavage enzyme deficiency (Desmolase deficiency)
  • 17-beta-hydroxysteroid dehydrogenase deficiency (17-ketosteroid reductase deficiency; male pseudohermaphroditism with gynecomastia)
  • 3-alpha-hydroxysteroid dehydrogenase type 3 deficiency
  • 11-beta-hydroxysteroid dehydrogenase type 2 deficiency (Apparent mineralocorticoid excess)
  • Steroid 5-alpha-reductase 2 deficiency
  • Androgen receptor deficiency (Androgen insensitivity syndrome)
  • X-linked spinal and bulbar muscular atrophy (Kennedy disease)
  • Hydroxysteroid sulfotransferase deficiency (Autosomal recessive congenital ichthyosis type 14)
  • Steroid sulfatase deficiency (X-linked ichthyosis)
  • Chloride channel 2 superactivity (Familial hyperaldosteronism type 2)

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