3.1.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)
Subnetworks
NOMS
Disorders of neuromodulators and other small molecules
