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1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
17p13.3 microduplication syndrome
Miller-Dieker syndrome
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
Isolated NADH-CoQ reductase deficiency
Pyogenic arthritis - pyoderma gangrenosum - acne
Giant cell glioblastoma
X-linked distal arthrogryposis multiplex congenita
Autosomal dominant hypohidrotic ectodermal dysplasia
Chuvash erythrocytosis
Distal 17p13.3 microdeletion syndrome
Estrogen resistance syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial leiomyomatosis
Fumaric aciduria
Lissencephaly due to LIS1 mutation
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Subcortical band heterotopia
Von Hippel-Lindau disease
Amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease
Succinyl-CoA:3-ketoacid CoA transferase deficiency
- 5-amino-4-imidazole carboxamide ribosiduria
- ATIC deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ATIC P31939601731
No signs/symptoms info available.