Mitochondria Phenome Knowledgebase

Gene Symbol ABCD1
Ensembl ID ENSG00000101986 Entrez 215
Gene Alias ABC42; ALD; ALDP; AMN Subcellular Locations Mitochondria-related Peroxisome
Map Position Xq28 Subcell PMIDs 12509471
OMIM Gene 300371 Protein Complex
Swissprot ID P33897 Swissprot Description Adrenoleukodystrophy protein (ALDP)
OMIM Disease Adrenoleukodystrophy (ALD) [300100]

109 Gene-Feature associations for Gene ABCD1

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Abdominal-pain episodes gastrointestinal 16672758
ABCD1 300100 Adrenal-gland-diseases endocrinologic #961799 #3561956 #7849723 #10369742 #10426149 #11204280 #11438993 #11810273 #14586615 #15564782 #16130276 #16672758
ABCD1 300100 Adrenal-insufficiency primary adrenal insufficiency; adrenal atrophy; adrenocortical insufficiency; Addisons disease; adrenal failure; atrophied adrenal glands endocrinologic 961799 3561956 7849723 10369742 10426149 #11204280 11438993 11810273 14586615 15564782 16130276 16672758
ABCD1 300100 Aggression verbal aggression psychiatric 14586615
ABCD1 300100 Anxiety-disorders separation anxiety; oversensitivity to noises; school phobia psychiatric 12210797
ABCD1 300100 Aphasia neurologic 11204280
ABCD1 300100 Apraxias increasing dyspraxia; dyspraxia neurologic 16672758
ABCD1 300100 Ataxia limb; truncal; spastic ataxic gait neurologic 10980309 11204280
ABCD1 300100 Axonal-degeneration axonopathy; distal axonopathy neurologic 11739809 16672758
ABCD1 300100 Behavioral-symptoms mnesic and behavioural symptoms; behavioural disturbances; behavioral problems; behavioral changes; clockwatching; apathy; abnormal behavior psychiatric 10369742 10980309 12210797 14586615 16672758
ABCD1 300100 Body-temperature-changes miscellaneous #10426149 #15564782
ABCD1 300100 Brain-diseases neurologic #961799 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758
ABCD1 300100 Cardiorespiratory-arrest respiratory failure cardiovascular 9702690
ABCD1 300100 Cardiovascular-diseases cardiovascular #9702690 #16672758
ABCD1 300100 Central-nervous-system-diseases neurologic #961799 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758
ABCD1 300100 Cerebellar-atrophy pons atrophy; cerebellum atrophy; cerebellar atrophy; cerebellar hemispheres abnormal neurologic 9702690
ABCD1 300100 Cerebral-atrophy brain stem abnormal; parietooccipital atrophy neurologic 9702690
ABCD1 300100 Cerebral-necrosis neurologic 9702690
ABCD1 300100 Cerebrovascular-disorders PET findings; positron emission tomography; reductions of regional cerebral blood flow; cerebral blood flow abnormal neurologic 9702690
ABCD1 300100 Consciousness-disorders somnolence; vegetative state neurologic 9702690 16672758
ABCD1 300100 Creatinine-levels-abnormal elevated genitourinary 16672758
ABCD1 300100 Deglutition-disorders dysphagia gastrointestinal 11204280
ABCD1 300100 Dementia short time; memory loss; cognitive decline; frontotemporal lobar dementia; mental impairment; mental deterioration psychiatric 9702690 10369742 10980309 14586615 16672758
ABCD1 300100 Depressive-disorder depression psychiatric 9702690
ABCD1 300100 Developmental-delay speech delay; language delay; neuropsychological delay neurologic 10426149 16672758
ABCD1 300100 Digestive-system-diseases gastrointestinal #10426149 #11204280 #16672758
ABCD1 300100 Diplopia double vision ophthalmologic 10980309
ABCD1 300100 Dysarthria slurred speech; dysarthria; anarthria neurologic 9702690 10426149
ABCD1 300100 Dyskinesias hypokinesia neurologic 9702690
ABCD1 300100 Dystonic-disorders dystonic posturing neurologic 10426149
ABCD1 300100 Electroencephalogram-abnormal irregular slow waves; predominant in bilateral temporal areas; polyspikes; slow wave complexes neurologic 9702690 10980309
ABCD1 300100 Endocrine-system-diseases endocrinologic #961799 #3561956 #7849723 #10369742 #10426149 #10980309 #11204280 #11438993 #11810273 #14586615 #15564782 #16130276 #16672758
ABCD1 300100 Eye-diseases ophthalmologic #961799 #3561956 #9702690 #10369742 #10426149 #10980309 #11204280 #16380594 #16672758
ABCD1 300100 Fatty-acids-abnormal very long chain fatty acids elevated metabolic 7849723 9702690 10369742 10426149 10980309 11438993 11739809 11810273 12210797 14586615 15564782 16672758
ABCD1 300100 Feeding-behavior predilection for sweet foods psychiatric 14586615
ABCD1 300100 Fever episodes; febrile illness miscellaneous 10426149 15564782
ABCD1 300100 Gait-disorders gait abnormalities; frequent falls; unsteady gait; walking difficulties; gait disturbance; stumbling; tripping neurologic 9702690 10980309 11739809 11810273 15564782 16672758
ABCD1 300100 Gastrointestinal-diseases gastrointestinal #11204280
ABCD1 300100 Genitourinary-diseases genitourinary #9702690 #10426149 #10980309 #11204280 #11739809 #14586615 #16672758
ABCD1 300100 Gonadal-disorders endocrinologic #10426149 #16130276
ABCD1 300100 Gynecomastia dermatologic 16130276
ABCD1 300100 Hair-diseases dermatologic #16130276
ABCD1 300100 Hearing-disorders hearing loss; cognitive; auditory disturbance; hearing impairment neurologic 9702690 10369742 10980309 11204280
ABCD1 300100 Hematologic-diseases hematologic #16672758
ABCD1 300100 Hyperpigmentation progressive pigmentation; lips; buccal mucosa; palmar creases; nipples dermatologic 9702690 10369742 10426149 15564782
ABCD1 300100 Hyperpituitarism corticotropin levels abnormal; ACTH elevated endocrinologic 10426149 10980309 15564782
ABCD1 300100 Hyperreflexia increased deep tendon reflexes; female carriers; jaw hyperreflexia; arm hyperreflexia neurologic 9702690 10426149 10980309 11204280 11739809 15564782 16672758
ABCD1 300100 Hypoandrogenism plasma testosterone levels decreased; low normal endocrinologic 16130276
ABCD1 300100 Hypocortisolism low serum cortisol endocrinologic 961799 10426149 11204280 15564782 16672758
ABCD1 300100 Hypogonadism hypogonadism; genital defects endocrinologic 16130276
ABCD1 300100 Hyponatremia sodium levels decreased metabolic 16672758
ABCD1 300100 Hypotension unrecordable blood pressure cardiovascular 16672758
ABCD1 300100 Hypotrichosis hair abnormalities dermatologic 16130276
ABCD1 300100 Infertility-male male infertility; impotence genitourinary 9702690 10980309
ABCD1 300100 Irritability irritable neurologic 9702690
ABCD1 300100 Kidney-diseases genitourinary #16672758
ABCD1 300100 Leukocyte-disorders hematologic #16672758
ABCD1 300100 Leukocytosis hematologic 16672758
ABCD1 300100 Leukoencephalopathy adrenoleukodystrophy; leukodystrophy; white matter demyelination; white matter degeneration; inflammatory myelinopathy; myelinopathy neurologic 961799 9702690 10369742 10426149 10980309 11204280 11438993 11810273 12210797 14586615 15564782 16130276 16672758
ABCD1 300100 Lung-diseases respiratory #9702690
ABCD1 300100 Male-genital-diseases genitourinary #9702690 #10980309
ABCD1 300100 Memory-disorders forgetfulness; carelessness; memory abnormal; personality change neurologic 9702690 14586615
ABCD1 300100 Mental-disorders psychiatric #9702690 #10369742 #10980309 #12210797 #14586615 #16380594 #16672758
ABCD1 300100 Metabolic-diseases metabolic #7849723 #9702690 #10369742 #10426149 #10980309 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16672758
ABCD1 300100 Mood-disorders psychiatric #9702690
ABCD1 300100 Movement-disorders neurologic #9702690 #10426149
ABCD1 300100 Muscle-aching-and-stiffness muscle pain; exercise triggered; stiffness; felt stiff neurologic 16672758
ABCD1 300100 Muscle-spasticity spastic paraplegia; spastic paraparesis; leg spasticity neurologic 7849723 10426149 10980309 11739809 11810273 15564782 16672758
ABCD1 300100 Muscle-weakness leg weakness neurologic 10426149 10980309 11739809 11810273 16672758
ABCD1 300100 Myoclonus ankle clonus; progressive neurologic 11739809 16672758
ABCD1 300100 Nervous-system-diseases neurologic #961799 #7849723 #9702690 #10369742 #10426149 #10980309 #11204280 #11438993 #11739809 #11810273 #12210797 #14586615 #15564782 #16130276 #16380594 #16672758
ABCD1 300100 Neurobehavioral-manifestations neurologic #9702690 #10369742 #10426149 #11204280 #14586615 #16380594 #16672758
ABCD1 300100 Neurodegenerative-diseases olivopontocerebellar degenerations; neurodegeneration neurologic 9702690 11438993 11810273 15564782
ABCD1 300100 Neurogenic-bladder bladder sphincter disturbance neurologic 9702690 10980309
ABCD1 300100 Neurologic-manifestations neurologic #7849723 #9702690 #10369742 #10426149 #10980309 #11204280 #11739809 #11810273 #14586615 #15564782 #16380594 #16672758
ABCD1 300100 Neuromuscular-manifestations neurologic #7849723 #10426149 #10980309 #11739809 #11810273 #15564782 #16672758
ABCD1 300100 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; cerebral peduncles abnormal; cerebellar hemispheres abnormal; internal capsule abnormal; demyelination; periventricular white matter abnormal neurologic 9702690 10369742 10426149 10980309 12210797 14586615 16672758
ABCD1 300100 Ocular-motility-disorders ophthalmologic #3561956 #9702690 #10980309 #16672758
ABCD1 300100 Optic-nerve-diseases optic nerve hypoplasia; optic pallor ophthalmologic 961799 3561956
ABCD1 300100 Paralysis-Paresis spastic paraplegia; spastic paraparesis; progressive paraparesis; spastic diplegia; tetraparesis; tetraplegic neurologic 7849723 10369742 10426149 11739809 11810273 15564782 16672758
ABCD1 300100 Pathologic-nystagmus vertical nystagmus; nystagmoid movement ophthalmologic 9702690 10980309
ABCD1 300100 Peripheral-nervous-system-diseases neurologic #7849723 #10980309 #11739809 #16672758
ABCD1 300100 Pigmentation-disorders dermatologic #9702690 #10369742 #10426149 #15564782
ABCD1 300100 Pituitary-diseases endocrinologic #10426149 #10980309 #15564782
ABCD1 300100 Pneumonia recurrent respiratory 9702690
ABCD1 300100 Polyneuropathies peripheral neuropathy; touch sensation reduced; pinprick sensation reduced; demyelinating motor neuropathy; paraesthesiae neurologic 7849723 11739809 16672758
ABCD1 300100 Proprioception-impaired reduced sensation to vibration neurologic 7849723 10980309 11739809 16672758
ABCD1 300100 Psychiatric-disorders psychiatric #9702690 #10369742 #10980309 #12210797 #14586615 #16380594 #16672758
ABCD1 300100 Psychomotor-agitation ADHD; attention deficit; inattention; emotional liability; hyperactivity; misdiagnosed as ADHD neurologic 10369742 16380594
ABCD1 300100 Psychotic-disorders psychosis; psychoses; psychological disorder; misdiagnosed as psychosis psychiatric 16380594
ABCD1 300100 Puberty-delayed delayed puberty endocrinologic 10426149
ABCD1 300100 Pyramidal-tract-signs extensor plantar response; babinski sign neurologic 9702690 10369742 10426149 10980309 11739809 15564782
ABCD1 300100 Reflexes-abnormal neurologic #9702690 #10369742 #10426149 #10980309 #11204280 #11739809 #15564782 #16672758
ABCD1 300100 Respiratory-tract-diseases respiratory #9702690
ABCD1 300100 Retinal-diseases pigmentary changes; retinal ganglion cell degeneration ophthalmologic 3561956
ABCD1 300100 Schizophrenia misdiagnosed as schizophrenia psychiatric 16380594
ABCD1 300100 Schizophrenia-and-psychotic-disorders psychiatric #16380594
ABCD1 300100 Seizures nonfebrile seizures; convulsions; epilepsy; generalized epileptic seizures neurologic 9702690 10980309 11204280 16380594
ABCD1 300100 Skin-diseases dermatologic #9702690 #10369742 #10426149 #15564782 #16130276
ABCD1 300100 Speech-disorders neurologic #9702690 #10426149 #11204280
ABCD1 300100 Spinal-cord-diseases adrenomyeloneuropathy; myelopathy; altered spinal cord; distal axonopathy; thoracic cord atrophy; cervical cord atrophy neurologic 9702690 10426149 11438993 11739809 11810273 15564782 16672758
ABCD1 300100 Strabismus exotropia; esotropia; squint; convergent squint ophthalmologic 3561956 10980309 16672758
ABCD1 300100 Tinnitus neurologic 9702690
ABCD1 300100 Urination-disorders episodic incontinence; urinary incontinence; urinary urgency; urinary retention; sphincter incontinence; urinary hesitancy genitourinary 10426149 10980309 11204280 11739809 14586615 16672758
ABCD1 300100 Urologic-diseases genitourinary #10426149 #10980309 #11204280 #11739809 #14586615 #16672758
ABCD1 300100 Vascular-diseases cardiovascular #16672758
ABCD1 300100 Vision-disorders blindness; cortical blindness; loss of vision; hemianopsia; visual disturbances; visual loss; blind ophthalmologic 961799 3561956 9702690 10369742 10426149 10980309 11204280 16380594
ABCD1 300100 Vomiting frequent vomiting gastrointestinal 10426149
ABCD1 300100 Water-electrolyte-imbalance metabolic #16672758

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