IMDs

3. Disorders of heterocyclic compounds

3.1 Disorders of nucleobase, nucleotide and nucleic acid metabolism

a. Disorders of pyrimidine metabolism

  • CAD trifunctional protein deficiency
  • Dihydroorotate dehydrogenase deficiency (Postaxial acrofacial dysostosis; Miller syndrome; Genée–Wiedemann syndrome)
  • Uridine monophosphate synthase deficiency (Hereditary orotic aciduria)
  • dUTP pyrophosphatase deficiency
  • Deoxythymidylate kinase deficiency
  • CTP synthase 1 deficiency (Immunodeficiency type 24)
  • Pyrimidine nucleoside transporter deficiency (Uridine-cytidineuria)
  • Cytosolic pyrimidine 5′-nucleotidase deficiency (Uridine 5’-monophosphate hydrolase 1 deficiency)
  • Dihydropyrimidine dehydrogenase deficiency
  • Dihydropyrimidinase deficiency (Dihydropyrimidinuria)
  • Beta-ureidopropionase deficiency (β-alanine synthase deficiency)
  • Hyper-beta-aminoisobutyric aciduria
  • Hyper-beta-alaninemia

b. Disorders of purine metabolism

  • Phosphoribosylpyrophosphate synthetase superactivity
  • Phosphoribosylpyrophosphate synthetase deficiency
  • Phosphoribosylaminoimidazole carboxylase deficiency
  • Adenylosuccinate lyase deficiency
  • AICAR transformylase/IMP cyclohydrolase deficiency (AICA-ribosiduria)
  • Myoadenylate deaminase deficiency (Myoadenylate deaminase deficiency)
  • Adenosine monophosphate deaminase 2 deficiency (Pontocerebellar hypoplasia type 9, severe; autosomal recessive spastic paraplegia type 63, milder)
  • Erythrocyte adenosine monophosphate deaminase 3 deficiency
  • Adenosine deaminase 1 deficiency
  • Adenosine deaminase superactivity
  • Adenosine deaminase 2 deficiency
  • Purine nucleoside phosphorylase deficiency
  • FAMIN deficiency
  • Xanthine oxidase deficiency (Xanthinuria type 1)
  • Hypoxanthine guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome, severe; Kelley-Seegmiller syndrome, milder)
  • Adenine phosphoribosyltransferase deficiency
  • Adenylate kinase 1 deficiency
  • Adenylate kinase 2 deficiency (Reticular dysgenesis)
  • Adenylate kinase 7 deficiency (Primary male infertility with multiple morphological anomalies of the flagella)
  • Adenylosuccinate synthase-like 1 deficiency (Distal myopathy type 5)
  • Inosine-5′-monophosphate dehydrogenase deficiency (Retinitis pigmentosa type 1; Leber congenital amaurosis type 11)
  • Thiopurine methyltransferase deficiency
  • NUDT15 deficiency
  • Inosine triphosphatase deficiency (Early infantile epileptic encephalopathy type 35)
  • Urate transporter 1 deficiency (Hereditary renal hypouricemia type 1)
  • Urate voltage-driven efflux transporter 1 deficiency (Hereditary renal hypouricemia type 2)

c. Disorders of ectonucleotide and nucleic acid metabolism

  • 3′ repair exonuclease 1 deficiency (Aicardi-Goutières syndrome type 1; familial chilblain lupus; retinal vasculopathy with cerebral leukodystrophy)
  • Ribonuclease H2 subunit A deficiency (Aicardi-Goutières syndrome type 4)
  • Ribonuclease H2 subunit B deficiency (Aicardi-Goutières syndrome type 2)
  • Ribonuclease H2 subunit C deficiency (Aicardi-Goutières syndrome type 3)
  • Ribonuclease T2 deficiency (Cystic leukoencephalopathy without megalencephaly)
  • RNA-specific adenosine deaminase 1 deficiency (Aicardi-Goutières syndrome type 6, recessive; dyschromatosis symmetrica hereditaria, dominant)
  • RNA-specific adenosine deaminase 2 deficiency (Neurodevelopmental disorder with hypotonia, microcephaly, and seizures)
  • MDA5 superactivity (Aicardi-Goutières syndrome type 7; Singleton-Merten syndrome type 1)
  • STING superactivity (STING-associated vasculopathy with onset in infancy – SAVI)
  • 2′,5′-oligoadenylate synthetase 1 deficiency (Infantile-onset pulmonary alveolar proteinosis with hypogammaglobulinemia)
  • Activation-induced cytidine deaminase deficiency (Hyper-IgM syndrome type 2)
  • Uracil-DNA glycosylase deficiency (Hyper-IgM syndrome type 5)
  • ABCC6 deficiency (Generalized arterial calcification of infancy type 2, severe; pseudoxanthoma elasticum, milder)
  • Ectonucleotide pyrophosphatase/ phosphodiesterase 1 deficiency (Generalized arterial calcification of infancy type 1; autosomal recessive hypophosphatemic rickets type 2)
  • Ectonucleotide pyrophosphatase/ phosphodiesterase 1 dimerization deficiency (Cole disease)
  • Ectonucleoside triphosphate diphosphohydrolase 1 deficiency (Autosomal recessive spastic paraplegia type 64)
  • Ecto-5′-nucleotidase deficiency (Arterial calcification due to deficiency of CD73 – ACDC)
  • Ecto-5′-nucleotidase superactivity (Nucleotidase-associated pervasive developmental disorder)
  • Equilibrative nucleoside transporter 1 deficiency
  • Equilibrative nucleoside transporter 3 deficiency (H syndrome; familial Rosai-
  • Dorfman disease; Faisalabad histiocytosis)

d. Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases

  • tRNA splicing endonuclease subunit 2 deficiency (Pontocerebellar hypoplasia type 2B)
  • tRNA splicing endonuclease subunit 15 deficiency (Pontocerebellar hypoplasia type 2F)
  • tRNA splicing endonuclease subunit 34 deficiency (Pontocerebellar hypoplasia type 2C)
  • tRNA splicing endonuclease subunit 54 deficiency (Pontocerebellar hypoplasia types 2A, 4 and 5)
  • CLP1 deficiency Pontocerebellar hypoplasia type 10
  • tRNA methyltransferase 10A deficiency (Microcephaly, short stature, and impaired glucose metabolism type 1)
  • tRNA methyltransferase 1 deficiency (Autosomal recessive intellectual disability type 68)
  • DALRD3 deficiency (Early infantile epileptic encephalopathy type 86)
  • FTSJ RNA 2’-O-methyltransferase 1 deficiency (X-linked intellectual disability types 9 and 44)
  • NSUN2 deficiency (Autosomal recessive intellectual disability type 5)
  • tRNA-specific adenosine deaminase 3 deficiency (Autosomal recessive intellectual disability type 36)
  • Elongator complex protein 1 deficiency (Famillial dysautonomia)
  • Elongator complex protein 2 deficiency (Autosomal recessive intellectual disability type 58)
  • Galloway-Mowat syndrome, YRDC type
  • Galloway-Mowat syndrome, GON7 type
  • Galloway-Mowat syndrome type 2
  • Galloway-Mowat syndrome type 3
  • Galloway-Mowat syndrome type 4
  • Galloway-Mowat syndrome type 5
  • Pseudouridine synthase 3 deficiency (Autosomal recessive intellectual disability type 55)
  • Galloway-Mowat syndrome type 6
  • Alanyl-tRNA synthetase 1 deficiency (Early infantile epileptic encephalopathy type 29, recessive; axonal Charcot-Marie-Tooth disease type 2N, dominant)
  • Arginyl-tRNA synthetase 1 deficiency (Hypomyelinating leukodystrophy type 9)
  • Asparaginyl-tRNA synthetase 1 deficiency
  • Aspartyl-tRNA synthetase 1 deficiency (Hypomyelination with brainstem and spinal cord involvement and leg spasticity)
  • Cysteinyl-tRNA synthetase 1 deficiency (Microcephaly, developmental delay, and brittle hair syndrome)
  • Glutaminyl-tRNA synthetase 1 deficiency (Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy)
  • Glutamyl-prolyl-tRNA synthetase 1 deficiency (Hypomyelinating leukodystrophy type 15)
  • Histidyl-tRNA synthetase 1 deficiency (Axonal Charcot-Marie-Tooth type 2W; Usher syndrome type 3B)
  • Isoleucyl-tRNA synthetase 1 deficiency (Growth retardation, impaired intellectual development, hypotonia, and hepatopathy)
  • Leucyl-tRNA synthetase 1 deficiency (Infantile liver failure syndrome type 1)
  • Lysyl-tRNA synthetase 1 deficiency (Recessive intermediate Charcot-Marie-Tooth disease type B; autosomal recessive deafness type 89)
  • Methionyl-tRNA synthetase 1 deficiency (Interstitial lung and liver disease, recessive; axonal Charcot-Marie-Tooth type 2U, dominant)
  • Phenylalanyl-tRNA synthetase subunit alpha deficiency (Rajab interstitial lung disease with brain calcifications type 2)
  • Phenylalanyl-tRNA synthetase subunit beta deficiency (Rajab interstitial lung disease with brain calcifications type 1)
  • Seryl-tRNA synthetase 1 deficiency (Neurodevelopmental disorder with microcephaly, ataxia, and seizures)
  • Threonyl-tRNA synthetase 1 deficiency (Nonphotosensitive trichothiodystrophy type 7)
  • Tryptophanyl-tRNA synthetase 1 deficiency (Distal hereditary motor neuronopathy type 9)
  • Tyrosyl-tRNA synthetase 1 deficiency (Dominant intermediate Charcot-Marie-Tooth type C)
  • Valyl-tRNA synthetase 1 deficiency (Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy)
  • AIMP1/p43 deficiency (Hypomyelinating leukodystrophy type 3)
  • AIMP2/p38 deficiency (Hypomyelinating leukodystrophy type 17)

e. Disorders of ribosomal biogenesis

  • Treacher Collins syndrome type 1
  • Treacher Collins syndrome type 2
  • Treacher Collins syndrome type 3
  • Treacher Collins syndrome type 4
  • Acrofacial dysostosis, Cincinnati type
  • POLR3-related leukodystrophy (Hypomyelinating leukodystrophy type 11)
  • POLR3-related leukodystrophy (hypomyelinating leukodystrophy type 7)
  • Wiedemann-Rautenstrauch syndrome
  • POLR3-related leukodystrophy (hypomyelinating leukodystrophy type 8)
  • POLR3H-related primary ovarian insufficiency
  • TAF1A-related familial isolated dilated cardiomyopathy
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
  • X-linked dyskeratosis congenita
  • Autosomal recessive dyskeratosis congenita type 1
  • Autosomal recessive dyskeratosis congenita type 2
  • Nucleophosmin 1 deficiency
  • Leukoencephalopathy with brain calcifications and cysts
  • Cartilage-hair hypoplasia – more severe form: anauxetic dysplasia type 1 (Cartilage-hair hypoplasia; metaphyseal dysplasia without hypotrichosis; anauxetic dysplasia type 1)
  • POP1 deficiency (Anauxetic dysplasia type 2)
  • NEPRO-related skeletal dysplasia (Anauxetic dysplasia type 3)
  • Bowen-Conradi syndrome
  • BMS1-related aplasia cutis congenita
  • Diamond-Blackfan anemia type 1
  • Diamond-Blackfan anemia type 3
  • Diamond-Blackfan anemia type 4
  • Diamond-Blackfan anemia type 5
  • Diamond-Blackfan anemia type 6
  • Diamond-Blackfan anemia type 7
  • Diamond-Blackfan anemia type 8
  • Diamond-Blackfan anemia type 9
  • Diamond-Blackfan anemia type 10
  • Diamond-Blackfan anemia type 11
  • Diamond-Blackfan anemia type 12
  • Diamond-Blackfan anemia type 13
  • Diamond-Blackfan anemia type 14
  • Diamond-Blackfan anemia type 15
  • Diamond-Blackfan anemia type 16
  • Diamond-Blackfan anemia type 17
  • Diamond-Blackfan anemia type 18
  • Diamond-Blackfan anemia type 19
  • Diamond-Blackfan anemia type 20
  • Cytosolic large ribosomal subunit 10 deficiency
  • Cytosolic large ribosomal subunit 13 deficiency (Spondyloepimetaphyseal dysplasia, Isidor-Toutain type)
  • Cytosolic large ribosomal subunit 21 deficiency (Hypotrichosis 12)
  • Cytosolic small ribosomal subunit 20 deficiency
  • Cytosolic small ribosomal subunit 23 deficiency (Brachycephaly, trichomegaly, and developmental delay)
  • Cytosolic ribosomal SA deficiency (Isolated congenital asplenia)
  • Poly(A)-specific ribonuclease deficiency (Autosomal recessive dyskeratosis congenita; telomere-related pulmonary fibrosis and/or bone marow failure type 4, dominant)
  • Shwachman-Diamond syndrome type 1
  • Shwachman-Diamond syndrome type 2
  • Shwachman-Diamond syndrome, DNAJC21 type
  • Shwachman-Diamond syndrome, EIF6 type

3.2 Disorders of tetrapyrrole metabolis

a. Disorders of heme synthesis and porphyrias

  • GATA1 deficiency
  • Delta-aminolevulinic acid synthase deficiency (X-linked recessive sideroblastic anemia type 1)
  • Delta-aminolevulinic acid synthase superactivity (X-linked protoporphyria)
  • Delta-aminolevulinic acid dehydratase deficiency
  • Porphobilinogen deaminase deficiency (Acute intermittent porphyria)
  • Uroporphyrinogen III synthase deficiency (Congenital erythropoietic porphyria; Gunther disease)
  • Uroporphyrinogen decarboxylase deficiency (Porphyria cutanea tarda type 2, dominant; hepatoerythropoietic porphyria, recessive)
  • Coproporphyrinogen oxidase deficiency (Hereditary coproporphyria)
  • Harderoporphyria
  • Protoporphyrinogen oxidase deficiency (Variegate porphyria)
  • Ferrochelatase deficiency (Erythropoietic protoporhyria)
  • Mitochondrial porphyrin transporter deficiency (Familial pseudohyperkalemia type 2; dyschromatosis universalis hereditaria type 3)

b. Disorders of heme degradation and bilirubin metabolism

  • Heme oxygenase 1 deficiency
  • NADH-cytochrome b5 reductase deficiency (NADH diaphorase deficiency; methemoglobinemia types 1 and 2)
  • Cytochrome b5 deficiency (Methemoglobinemia type 4)
  • Biliverdin reductase alpha deficiency (Hyperbiliverdinemia)
  • UDP-glucuronosyltransferase A1 deficiency (Crigler-Najjar syndrome, severe; Gilbert syndrome, milder)
  • Canalicular bilirubin glucuronide transporter deficiency (Dubin-Johnson syndrome)
  • Rotor syndrome

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