MeSH Browser

MeSH Heading: Menkes Kinky Hair Syndrome
Tree Number(s): C10.228.140.163.100.540; C10.597.606.360.455.687; C16.320.322.500.687; C16.320.400.525.687; C16.320.565.189.540; C16.320.565.618.590; C17.800.329.968; C18.452.132.100.540; C18.452.648.189.540; C18.452.648.618.590
Unique ID: D007706
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D007706
Scope Note: 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)
Entry Term(s): Congenital Hypocupremia; Copper Transport Disease; Hypocupremia, Congenital; Kinky Hair Disease; Kinky Hair Syndrome; Menkea Syndrome; Menkes Disease; Menkes Syndrome; Menkes' Disease; Steely Hair Disease; Steely Hair Syndrome; X-Linked Copper Deficiency
NLM Classification #: WL 350
Previous Indexing: Brain Diseases (1966-1976)
See Also: Ceruloplasmin; Copper-Transporting ATPases; Protein-Lysine 6-Oxidase; Superoxide Dismutase
Public MeSH Note: 2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990
History Note: 2000(1977)
Date Established: 1991/01/01
Date of Entry: 1976/05/05
Revision Date: 2019/07/11

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Neurobehavioral Manifestations [C10.597.606]
    - Intellectual Disability [C10.597.606.360]
      - X-Linked Intellectual Disability [C10.597.606.360.455]
        
        Adrenoleukodystrophy [C10.597.606.360.455.124]
        
        Coffin-Lowry Syndrome [C10.597.606.360.455.249]
        
        Fragile X Syndrome [C10.597.606.360.455.500]
        
        Glycogen Storage Disease Type IIb [C10.597.606.360.455.562]
        
        Lesch-Nyhan Syndrome [C10.597.606.360.455.625]
        
        Menkes Kinky Hair Syndrome [C10.597.606.360.455.687]
        
        Mucopolysaccharidosis II [C10.597.606.360.455.750]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.597.606.360.455.875]
        
        Rett Syndrome [C10.597.606.360.455.937]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Genetic Diseases, X-Linked [C16.320.322]
    - X-Linked Intellectual Disability [C16.320.322.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - X-Linked Intellectual Disability [C16.320.400.525]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Metal Metabolism, Inborn Errors [C16.320.565.618]

Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
  - Hair Diseases [C17.800.329]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Metal Metabolism, Inborn Errors [C18.452.648.618]

Menkes Kinky Hair Syndrome Preferred

Concept UI: M0012055
Scope Note: 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)
Terms: Menkes Kinky Hair Syndrome Preferred Term
Term UI T364748
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Menkes Syndrome
Term UI T023133
Date05/02/1977
LexicalTag EPO
ThesaurusID; Steely Hair Syndrome
Term UI T023134
Date05/05/1976
LexicalTag NON
ThesaurusID; Hypocupremia, Congenital
Term UI T369449
Date11/03/1999
LexicalTag NON
ThesaurusID; Congenital Hypocupremia
Term UI T369450
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Kinky Hair Disease
Term UI T369451
Date11/03/1999
LexicalTag NON
ThesaurusID; Menkes Disease
Term UI T369452
Date11/03/1999
LexicalTag EPO
ThesaurusID; Menkes' Disease
Term UI T369453
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Steely Hair Disease
Term UI T369454
Date11/03/1999
LexicalTag NON
ThesaurusID; Menkea Syndrome
Term UI T811681
Date11/15/2011
LexicalTag NON
ThesaurusID; Copper Transport Disease
Term UI T841995
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Kinky Hair Syndrome
Term UI T023132
Date01/01/1999
LexicalTag NON
ThesaurusID; X-Linked Copper Deficiency
Term UI T841996
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Menkes Kinky Hair Syndrome MeSH Descriptor Data 2025