TaoMedAI/RareMedData huggingface dataset:
Gene: PSAP
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Fasciculations (HP:0002380)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Frequent falls (HP:0002359)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Frequent falls (HP:0002359)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Frequent falls (HP:0002359)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Developmental regression (HP:0002376)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Developmental regression (HP:0002376)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Developmental regression (HP:0002376)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Developmental regression (HP:0002376)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Developmental regression (HP:0002376)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Loss of speech (HP:0002371)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Loss of speech (HP:0002371)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Loss of speech (HP:0002371)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Loss of speech (HP:0002371)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Motor deterioration (HP:0002333)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Cholecystitis (HP:0001082)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Cholecystitis (HP:0001082)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Clumsiness (HP:0002312)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Clumsiness (HP:0002312)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Clumsiness (HP:0002312)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Abducens palsy (HP:0006897)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Hypersplenism (HP:0001971)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Blindness (HP:0000618)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Photophobia (HP:0000613)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Anemia (HP:0001903)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Anemia (HP:0001903)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Cachexia (HP:0004326)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Hallucinations (HP:0000738)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Hallucinations (HP:0000738)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Hallucinations (HP:0000738)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Irritability (HP:0000737)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Short attention span (HP:0000736)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Short attention span (HP:0000736)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Delusion (HP:0000746)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Delusion (HP:0000746)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Delusion (HP:0000746)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Depression (HP:0000716)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Emotional lability (HP:0000712)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Emotional lability (HP:0000712)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Emotional lability (HP:0000712)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Dementia (HP:0000726)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Elevated circulating glucosylsphingosine concentration (HP:6001185)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Childhood onset (HP:0011463)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Young adult onset (HP:0011462)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Decorticate rigidity (HP:0011444)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Elevated serum acid phosphatase (HP:0003148)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Reduced tissue galactocerebrosidase activity (HP:0034322)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hyperpyrexia (HP:0033031)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Osteopenia (HP:0000938)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Osteopenia (HP:0000938)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Punctate periventricular T2 hyperintense foci (HP:0030081)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Kyphosis (HP:0002808)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Death in infancy (HP:0001522)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Death in infancy (HP:0001522)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Central apnea (HP:0002871)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Vegetative state (HP:0031358)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Vegetative state (HP:0031358)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Vegetative state (HP:0031358)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Vegetative state (HP:0031358)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)