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Details
Link-It Detail - Disease - Menkes Kinky Hair Syndrome
Debug Stats
  • ### Total Build Time: 66 ms 36.585 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Reload Stats
Disease (1)
Menkes Kinky Hair Syndrome C0022716
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (5)
img Brain Diseases, Metabolic, Inborn C0752109
img Mental Retardation, X-Linked C1136249
img Metal Metabolism, Inborn Errors C0025534
img Heredodegenerative Disorders, Nervous System C0751870
img Hair Diseases C0018500
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250405img Mental Retardation, X-Linked C1136249
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Mental Retardation, X-Linked C1136249
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250415img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Mental Retardation, X-Linked C1136249
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Mental Retardation, X-Linked C1136249
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Metal Metabolism, Inborn Errors C0025534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Metal Metabolism, Inborn Errors C0025534
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Hair Diseases C0018500
Relationships (35)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 4
diso_​to_​diso : 28
diso_​to_​phen : 2


Relationships:
none : 6
inheritance_​type_​of : 1
manifestation_​of : 26
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_PHEN36img genetic aspects C0017399
DISO_to_CHEM30img Adenosine Triphosphatases C0001473
DISO_to_CHEM30img Cation Transport Proteins C0969710
DISO_to_CHEM29img Adenosine Triphosphatases C0001473
DISO_to_CHEM25img Copper C0009968
DISO_to_ANATmanifestation_ofimg Structure of wormian bone C0222716
DISO_to_DISOmanifestation_ofimg A milder form has also been reported C2677702
DISO_to_DISOmanifestation_ofimg BLEEDING INTRACRANIAL C0151699
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmapped_toimg Calderon Gonzalez-Cantu syndrome C1856241
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, 300011.0001) C2677699
DISO_to_DISOmanifestation_ofimg Classic severe form shows onset at 2 to 3 months of age C2677700
DISO_to_DISOmanifestation_ofimg Cutis Laxa C0010495
DISO_to_DISOmanifestation_ofimg Early death (usually by 3 years of age) C3275608
DISO_to_DISOmanifestation_ofimg Female carriers may have subtle manifestations C3275609
DISO_to_DISOmanifestation_ofimg Fetal Growth Retardation C0015934
DISO_to_DISOmanifestation_ofimg Hypermobilities, Joint C0086437
DISO_to_DISOmanifestation_ofimg Hypopigmentation C0162835
DISO_to_DISOmanifestation_ofimg Hypothermia C0020672
DISO_to_DISOmanifestation_ofimg Incidence ranges from 1 in 40,000 to 1 in 350,000 births C2677703
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Low copper and ceruloplasmin C1839805
DISO_to_DISOpermuted_term_ofimg Menkes Kinky Hair Syndrome C0022716
DISO_to_DISOmanifestation_ofimg Metaphyseal widening with spurs C1839804
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0022716Menkes Kinky Hair Syndrome0self