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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Menkes disease
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Accession:DOID:1838 term browser browse the term
Definition:An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
Synonyms:exact_synonym: Kinky Hair Syndrome;   MK;   MNK;   Menkes kinky hair syndrome;   Menkes syndrome;   Menkes' diseases;   X-linked copper deficiency;   congenital hypocupremia;   congenital hypocupremias;   copper transport disease;   kinky hair disease;   kinky hair diseases;   steely hair disease;   steely hair diseases;   steely hair syndrome;   steely hair syndromes
 narrow_synonym: MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE;   MENKES DISEASE, MILD
 primary_id: MESH:D007706
 alt_id: OMIA:000640;   OMIM:309400
 xref: GARD:1521;   NCI:C75486;   ORDO:565
For additional species annotation, visit the Alliance of Genome Resources.


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Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO DNA:snp:intron:c.4268+3A>T (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:mutations:multiple (human)
DNA:deletion:exons, introns:p.G876delX2 (human)
CTD Direct Evidence: marker/mechanism
DNA:duplication:exon:
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes disease, mild | ClinVar Annotator: match by term: Menkes kinky-hair syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:7842019 PMID:7977350 PMID:8812725 PMID:8981948 PMID:9166584 More... RGD:734621, RGD:11252182, RGD:11252183, RGD:11252186, RGD:11340200, RGD:12879459 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:25741868 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Lox lysyl oxidase ISO
ISS		 OMIM:309400 MouseDO
RGD		 PMID:8638917 RGD:1581895 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Menkes disease 5
        Hair Defect with Photosensitivity and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    X-Linked Intellectual Developmental Disorders 757
                      Menkes disease 5
                        Hair Defect with Photosensitivity and Mental Retardation 0
paths to the root