Mitochondria Phenome Knowledgebase

Gene Symbol ALDH18A1
Ensembl ID ENSG00000059573 Entrez 5832
Gene Alias GSAS; MGC117316; P5CS; PYCS Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 10q24.3 Subcell PMIDs 10037775 15517380
OMIM Gene 138250 Protein Complex
Swissprot ID P54886 Swissprot Description Delta 1-pyrroline-5-carboxylate synthetase (P5CS)
OMIM Disease Delta 1 pyrroline 5 carboxylate synthetase deficiency (P5CS) [138250]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALDH18A1 138250 Musculoskeletal-diseases musculoskeletal #11092761 #15517380
ALDH18A1 138250 Bone-diseases musculoskeletal #15517380
ALDH18A1 138250 Metabolic-bone-diseases osteopenic bones; osteopenic; osteopenia musculoskeletal 15517380
ALDH18A1 138250 Foot-deformities pes planus; due to joint laxity musculoskeletal 15517380
ALDH18A1 138250 Joint-diseases musculoskeletal #11092761 #15517380
ALDH18A1 138250 Joint-instability joint laxity; lax joints; dislocated hips; coxa valga musculoskeletal 11092761 15517380
ALDH18A1 138250 Digestive-system-diseases gastrointestinal #11092761 #15517380
ALDH18A1 138250 Vomiting vomiting due to gastroesophageal reflux gastrointestinal 11092761 15517380
ALDH18A1 138250 Nervous-system-diseases neurologic #11092761 #15517380
ALDH18A1 138250 Central-nervous-system-diseases neurologic #15517380
ALDH18A1 138250 Brain-diseases neurologic #15517380
ALDH18A1 138250 Seizures tonic clonic seizures neurologic 15517380
ALDH18A1 138250 Movement-disorders neurologic #15517380
ALDH18A1 138250 Dystonic-disorders dystonia of the hands; dystonia of the feet neurologic 15517380
ALDH18A1 138250 Tremor large amplitude tremor neurologic 15517380
ALDH18A1 138250 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; white matter atrophy neurologic 15517380
ALDH18A1 138250 Neurodegenerative-diseases progressive neurodegeneration; progressive neurological dysfunction neurologic 11092761 15517380
ALDH18A1 138250 Neurologic-manifestations neurologic #11092761 #15517380
ALDH18A1 138250 Gait-disorders complete loss of the ability to walk neurologic 11092761 15517380
ALDH18A1 138250 Neurobehavioral-manifestations neurologic #11092761 #15517380
ALDH18A1 138250 Mental-retardation mentally retarded neurologic 11092761 15517380
ALDH18A1 138250 Developmental-delay neurologic 15517380
ALDH18A1 138250 Neuromuscular-manifestations neurologic #11092761 #15517380
ALDH18A1 138250 Muscle-hypotonia severe hypotonia neurologic 11092761 15517380
ALDH18A1 138250 Muscular-atrophy muscular wasting; muscular wasting of the limbs; distal muscular wasting neurologic 15517380
ALDH18A1 138250 Reflexes-abnormal neurologic #15517380
ALDH18A1 138250 Hyperreflexia deep tendon reflexes abnormal; brisk reflexes neurologic 15517380
ALDH18A1 138250 Pyramidal-tract-signs pyramidal syndrome neurologic 15517380
ALDH18A1 138250 Peripheral-nervous-system-diseases neurologic #15517380
ALDH18A1 138250 Polyneuropathies peripheral neuropathy; predominantly axonal neuropathy; axonal neuropathy; progressively decreasing motor nerve conduction; NCV abnormal neurologic 15517380
ALDH18A1 138250 Eye-diseases ophthalmologic #11092761 #15517380
ALDH18A1 138250 Lens-diseases ophthalmologic #11092761 #15517380
ALDH18A1 138250 Cataract bilateral zonular cataracts; subcapsular cataracts ophthalmologic 11092761 15517380
ALDH18A1 138250 Optic-nerve-diseases alteration of the optical nerves; Visual evoked potentials abnormal ophthalmologic 15517380
ALDH18A1 138250 Skin-diseases hyperelasticity of the skin; hyperelasticity; smooth skin; hyperelastic skin; connective tissue disease dermatologic 11092761 15517380
ALDH18A1 138250 Metabolic-diseases metabolic #11092761 #15517380
ALDH18A1 138250 Hyperammonemia mild; hyperammonaemia metabolic 11092761 15517380
ALDH18A1 138250 Aminoacid-levels-abnormal citrulline decreased; ornithine decreased; arginine decreased; proline decreased; hypoornithinemia; hypocitrullinemia; hypoargininemia; hypoprolinemia metabolic 11092761 15517380
ALDH18A1 138250 Immune-system-diseases immunologic #15517380
ALDH18A1 138250 Infections urinary tract infections; related to vesico urethral reflux immunologic 15517380
ALDH18A1 138250 Psychiatric-disorders psychiatric #15517380
ALDH18A1 138250 Behavioral-symptoms abnormal behaviour psychiatric 15517380
ALDH18A1 138250 Growth-disorders miscellaneous #11092761 #15517380
ALDH18A1 138250 Failure-to-thrive miscellaneous 11092761 15517380
ALDH18A1 138250 Growth-deficiency short stature miscellaneous 15517380
ALDH18A1 138250 Dysmorphism-and-abnormalities dysmorphic features; short neck; unusually long fingers; unusually long toes; abducted thumbs miscellaneous 15517380

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