TaoMedAI/RareMedData huggingface dataset:
Gene: PRPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Death in childhood (HP:0003819)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Arthritis (HP:0001369)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Arthritis (HP:0001369)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Absent speech (HP:0001344)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Tremor (HP:0001337)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Decreased phosphoribosylpyrophosphate synthetase level (HP:0032460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Wide mouth (HP:0000154)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEAFNESS, X-LINKED 1 (OMIM:304500)
Gene: PRPS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Elevated amniotic fluid alpha-fetoprotein (HP:0004639)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: 1-minute APGAR score of 0 (HP:0030927)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: 5-minute APGAR score of 1 (HP:0030921)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Babinski sign (HP:0003487)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Clonus (HP:0002169)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Spinal cord posterior columns myelin loss (HP:0008311)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Spinal cord posterior columns myelin loss (HP:0008311)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Crystalluria (HP:0020074)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Crystalluria (HP:0020074)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Paraparesis (HP:0002385)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Severe infection (HP:0032169)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Mutism (HP:0002300)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Drooling (HP:0002307)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Stage 4 chronic kidney disease (HP:0012626)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Blindness (HP:0000618)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Gout (HP:0001997)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Gout (HP:0001997)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Short stature (HP:0004322)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Short nose (HP:0003196)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Increased phosphoribosylpyrophosphate synthetase level (HP:0003240)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Increased phosphoribosylpyrophosphate synthetase level (HP:0003240)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Increased phosphoribosylpyrophosphate synthetase level (HP:0003240)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Urolithiasis (HP:0034368)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)