Menkes disease

Preferred Label : Menkes disease;

Symbol : MNK;

CISMeF acronym : MNK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kinky hair disease; Copper transport disease; Steely hair disease; Menkes syndrome; MK;

Description : Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, Cu transporting, alpha polypeptide gene (ATP7A, 300011.0001);

Laboratory abnormalities : Low copper and ceruloplasmin;

Prefixed ID : #309400;

Details

Origin ID

309400;

UMLS CUI

C0022716;

Automatic exact mappings (from CISMeF team)
- ATP7A wt Allele [NCIt concept]
- MDK wt Allele [NCIt concept]
- MVK wt Allele [NCIt concept]
- Mandinka Language [NCIt concept]
- Menkes syndrome [PASCAL descriptor]
- Mevalonate Kinase [NCIt concept]
- Midkine [NCIt concept]
- Musculoskeletal Findings, Connective and Soft Tissue Findings Domain [NCIt concept]
- mevalonate kinase [ORDO Gene]
- symbol withdrawn MNK [HGNC gene]
Currated CISMeF NLP mapping
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes Disease [NCIt concept]
- Menkes disease [DO Concept]
- Menkes disease [ICD-11 More detail]
- Menkes disease [ORDO Disease]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky hair syndrome [MeSH Descriptor]
- menkes kinky hair syndrome [MeSH concept]
- menkes kinky-hair syndrome [SNOMED Notion]
DO Cross reference
- Menkes disease [DO Concept]
False automatic mappings
- MKS System [NCIt concept]
- North Macedonia [NCIt concept]
Genes related to phenotype
- Atpase, cu(2+)-transporting, alpha polypeptide [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Babinski sign [HPO term]
- Brachycephaly [HPO term]
- Brittle hair [HPO term]
- Cutis laxa [HPO term]
- Death in childhood [HPO term]
- Decreased circulating ceruloplasmin concentration [HPO term]
- Developmental regression [HPO term]
- Early death [HPO term]
- Epileptic spasm [HPO term]
- Hypertonia [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypothermia [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intracranial hemorrhage [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Metaphyseal spurs [HPO term]
- Metaphyseal widening [HPO term]
- Metaphyseal widening with spurs [HPO term]
- Microcephaly [HPO term]
- Osteoporosis [HPO term]
- Poor head control [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Wormian bones [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Menkes disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes Disease [NCIt concept]
- Menkes disease [ORDO Disease]
- Menkes disease [DO Concept]
- Menkes disease [ICD-11 More detail]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky hair syndrome [MeSH Descriptor]
- menkes kinky hair syndrome [MeSH concept]
- menkes kinky-hair syndrome [SNOMED Notion]

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