MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandchronic primary adrenal insufficiency (MONDO:0015129)
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expandinherited neurodegenerative disorder (MONDO:0024237)
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expandleukodystrophy (MONDO:0019046)
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expandmetabolic disease with dementia (MONDO:0020142)
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expandmonogenic disease with epilepsy (MONDO:0015653)
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expandperoxisomal beta-oxidation disorder (MONDO:0019233)
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expandperoxisomal disease with epilepsy (MONDO:0016398)
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expandX-linked disease (MONDO:0000425)
..Starting node
..expandX-linked adrenoleukodystrophy ()

       Child Nodes:
........expandX-linked cerebral adrenoleukodystrophy ()



 Sister Nodes: 
..expandAarskog-Scott syndrome, X-linked ()
..expandchoroideremia ()
..expandcone dystrophy, X-linked, with tapetal-like sheen ()
..expanddiabetes insipidus, nephrogenic, X-linked ()
..expanddyskeratosis congenita, X-linked ()
..expandepidermodysplasia verruciformis, X-linked ()
..expandexudative vitreoretinopathy 2, X-linked ()
..expandhemophilia A ()
..expandmacular dystrophy, X-linked ()
..expandnon-syndromic X-linked intellectual disability ()
..expandOgden syndrome ()
..expandWiskott-Aldrich syndrome ()
..expandX-linked acrogigantism due to Xq26 microduplication ()
..expandX-linked adrenoleukodystrophy ()
..expandX-linked Alport syndrome ()
..expandX-linked central congenital hypothyroidism with late-onset testicular enlargement ()
..expandX-linked cerebellar ataxia ()
..expandX-linked chondrodysplasia punctata ()
..expandX-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ()
..expandX-linked cone-rod dystrophy ()
..expandX-linked congenital hemolytic anemia ()
..expandX-linked congenital stationary night blindness ()
..expandX-linked distal hereditary motor neuropathy ()
..expandX-linked dominant disease ()
..expandX-linked Ehlers-Danlos syndrome ()
..expandX-linked Emery-Dreifuss muscular dystrophy ()
..expandX-linked erythropoietic protoporphyria ()
..expandX-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ()
..expandX-linked hyper-IgM syndrome ()
..expandX-linked hypohidrotic ectodermal dysplasia ()
..expandX-linked hypophosphatemic rickets (recessive or dominant) ()
..expandX-linked ichthyosis syndrome ()
..expandX-linked lethal multiple pterygium syndrome ()
..expandX-linked lymphoproliferative syndrome ()
..expandX-linked nonsyndromic deafness ()
..expandX-linked Opitz G/BBB syndrome ()
..expandX-linked recessive disease ()
..expandX-linked retinoschisis ()
..expandX-linked severe congenital neutropenia ()
..expandX-linked sideroblastic anemia ()
..expandX-linked spondyloepimetaphyseal dysplasia ()
..expandX-linked syndromic intellectual disability ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18544
Name:X-linked adrenoleukodystrophy
Definition:X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
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Synonyms:adrenoleukodystrophy; adrenoleukodystrophy, X-linked; ALD; Bronze-Schilder disease; diffuse cerebral sclerosis of Schilder; diffuse sclerosis; encephalitis periaxialis concentrica; encephalitis periaxialis, Schilder's; Schilder disease; Schilder's disease; Siemerling-Creutzfeldt disease; sudanophili
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Reference: MedGen:
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MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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