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ONTOLOGY REPORT - ANNOTATIONS


Term:adrenoleukodystrophy
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Accession:DOID:10588 term browser browse the term
Definition:An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
Synonyms:exact_synonym: ALD;   ALD (Adrenoleukodystrophy);   Addison disease and cerebral sclerosis;   Bronze Schilder Disease;   Encephalitis periaxialis concentrica;   Encephalitis periaxialis, Schilder's;   Leukodystrophies, Melanodermic;   Melanodermic Leukodystrophy;   SUDANOPHILIC CEREBRAL SCLEROSIS;   Schilder Addison Complex;   Schilder disease;   Siemerling Creutzfeldt Disease;   X ALD;   X ALD (X Linked Adrenoleukodystrophy);   X-linked adrenoleukodystrophy;   adrenomyeloneuropathy;   diffuse sclerosis
 narrow_synonym: AMN;   MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY
 related_synonym: Schilder's disease;   diffuse cerebral sclerosis of Schilder
 primary_id: MESH:D000326
 alt_id: OMIM:300100
 xref: ICD10CM:E71.52;   ICD10CM:E71.529;   ICD10CM:G37.0;   ICD9CM:341.1;   NCI:C61252;   NCI:C84670
For additional species annotation, visit the Alliance of Genome Resources.


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adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:7240710
RGD:11554173
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Arhgap4 Rho GTPase activating protein 4 JBrowse link X 156,873,094 156,888,762 RGD:8554872
G Atp6ap1 ATPase H+ transporting accessory protein 1 JBrowse link X 156,407,973 156,415,053 RGD:8554872
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:8554872
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Ctag2 cancer/testis antigen 2 JBrowse link X 148,421,627 148,422,921 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:8554872
G Fam3a FAM3 metabolism regulating signaling molecule A JBrowse link X 156,319,687 156,328,974 RGD:8554872
G Fam50a family with sequence similarity 50, member A JBrowse link X 156,392,646 156,399,763 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Mpp1 membrane palmitoylated protein 1 JBrowse link 1 148,450,213 148,458,945 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:8554872
G Pdzd4 PDZ domain containing 4 JBrowse link X 156,963,343 156,993,591 RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
G Plxnb3 plexin B3 JBrowse link X 157,015,297 157,030,147 RGD:8554872
G Renbp renin binding protein JBrowse link X 156,854,490 156,863,548 RGD:8554872
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Slc10a3 solute carrier family 10, member 3 JBrowse link X 156,335,385 156,340,256 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Srpk3 SRSF protein kinase 3 JBrowse link X 157,008,773 157,014,342 RGD:8554872
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tex28 testis expressed 28 JBrowse link X 156,540,442 156,569,272 RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
G Tktl1 transketolase-like 1 JBrowse link X 156,507,797 156,540,733 RGD:8554872
G Ubl4a ubiquitin-like 4A JBrowse link X 156,340,919 156,343,771 RGD:8554872
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox1 acyl-CoA oxidase 1 JBrowse link 10 104,724,534 104,748,003 RGD:7240710
RGD:8554872
G Ten1 TEN1 subunit of CST complex JBrowse link 10 105,073,077 105,095,094 RGD:8554872
Peroxisome Biogenesis Disorder 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        intellectual disability 1788
          Mental Retardation, X-Linked 657
            adrenoleukodystrophy 51
              Peroxisome Biogenesis Disorder 2B 1
              Wells Jankovic Syndrome 0
              peroxisomal acyl-CoA oxidase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 657
                        adrenoleukodystrophy 51
                          Peroxisome Biogenesis Disorder 2B 1
                          Wells Jankovic Syndrome 0
                          peroxisomal acyl-CoA oxidase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.