Menkes disease

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Explore the main themes, entities and connections around Menkes disease. Start with the topic map, then use the sections below for research and deeper semantic analysis.

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Signs and symptoms

Born prematurely Developmental skills Developmental delay Hypotonia Muscle tone

16 related topics

Cause

Mutations Gene Chromosome Xq21.1 X-linked recessive

14 related topics

Diagnosis

Biopsy X-rays Homovanillic acid Vanillylmandelic acid Genetic testing

5 related topics

Mechanism

Transmembrane protein Copper Golgi apparatus

3 related topics

Key facts & relationships

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Causes: Mutations in genes coding for the copper-transport protein ATP7A
Frequency: 1 in 254,000 (Europe) 1 in 357,143 (Japan)
Other names: Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease
Specialty: Pediatrics, Medical Genetics

Topics to explore

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Overview

X-linked recessive X-linked recessive inheritance
Copper-transport Copper in health
ATP7A
Copper deficiency
Growth failure Failure to thrive
John Hans Menkes John Menkes

Signs and symptoms

Born prematurely
Developmental skills Developmental milestones
Developmental delay Developmental disability
Hypotonia
Muscle tone
Subnormal body temperature
Seizures
Metaphyseal
Neurodegeneration
Gray matter
Brain
Osteoporosis
Occipital horn syndrome
Ehlers-Danlos
Calcium Calcium in biology
Occipital bone

Cause

Mechanism

Diagnosis

Treatment

Copper histidinate

Advanced semantic analysis

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Map overview Semantic statistics

Nodes52

Edges51

Triples19

Avg. degree1.96

Density0.038462

Components1

How this topic connects Entity context

See the strongest relationship patterns around the current topic before diving into the raw triples.

Menkes disease

Top relations

has treatment · 11

Menkes disease → Copper, Early, January, Menkes, MNK, Other, The, There, Treatments, United States, Zycubo

Causes · 1

Menkes disease → Mutations in genes coding for the copper-transport protein ATP7A

Frequency · 1

Menkes disease → 1 in 254,000 (Europe) 1 in 357,143 (Japan)

Other names · 1

Menkes disease → Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease

Specialty · 1

Menkes disease → Pediatrics, Medical Genetics

Important terminology Word statistics

Use these terms to understand the vocabulary surrounding the topic, not as a checklist for keyword stuffing.

Important terminology

copper atp7a protein menkes disease hair mutations x-linked gene enzymes bone skin mnk syndrome recessive disorder treatment also characteristic kinky

Entity relationships Subject–Predicate–Object triples

Subject	Predicate	Object	Confidence	Src
Menkes disease	Causes	Mutations in genes coding for the copper-transport protein ATP7A	1.00	infobox
Menkes disease	Frequency	1 in 254,000 (Europe) 1 in 357,143 (Japan)	1.00	infobox
Menkes disease	Other names	Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease	1.00	infobox
Menkes disease	Specialty	Pediatrics, Medical Genetics	1.00	infobox
lysyl oxidase	instance of	blood vessels and the nervous system	0.80	text
deletions	instance of	Mutations in the ATP7A gene	0.80	text
insertions lead to parts of the gene being deleted	instance of	Mutations in the ATP7A gene	0.80	text
resulting in a shortened ATP7A protein	instance of	Mutations in the ATP7A gene	0.80	text
Menkes disease	has treatment	There	0.60	section
Menkes disease	has treatment	Menkes	0.60	section
Menkes disease	has treatment	Early	0.60	section
Menkes disease	has treatment	MNK	0.60	section

Related concept clusters Concept neighborhoods

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Connections between topic areas Semantic bridges

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