Rare Immunology News

Disease Profile

Nakajo syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Nodular erythema digital changes

Categories

Congenital and Genetic Diseases

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Arthralgia
Joint pain
0002829
Basal ganglia calcification
0002135
Bone pain
0002653
Childhood onset
Symptoms begin in childhood
0011463
Chronic constipation
Infrequent bowel movements
0012450
Conjunctivitis
Pink eye
0000509
Death in adolescence
0011421
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol

[ more ]

0003233
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated hepatic transaminase
High liver enzymes
0002910
Epididymitis
0000031
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Erythema nodosum
0012219
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Finger swelling
0025131
Flexion contracture of finger
0012785
Gynecomastia
Enlarged male breast
0000771
Hallux valgus
Bunion
0001822
Hepatomegaly
Enlarged liver
0002240
Hypertrichosis
0000998
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

0002155
Hypoplastic scapulae
Small shoulder blade
0000882
Increased circulating IgA level
0003261
Increased circulating IgG level
0003237
Increased circulating interleukin 6
0030783
Increased circulating interleukin 8
0033178
Increased serum interferon-gamma level
0030356
Increased thyroid-stimulating hormone level
0002925
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Irregular menstruation
Menstrual irregularity
0000858
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Lymphadenopathy
Swollen lymph nodes
0002716
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Microcytic anemia
0001935
Parotitis
0011850
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying

[ more ]

0002216
Progeroid facial appearance
Premature aged appearance
0005328
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Punctate opacification of the cornea
0007856
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever

[ more ]

0001954
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinusitis
0011108
Reduced tendon reflexes
0001315
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Skin plaque
0200035
Sparse axillary hair
Limited armpit hair
Little underarm hair

[ more ]

0002215
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Adipose tissue loss
Loss of fat tissue
0008887
Autosomal recessive inheritance
0000007
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nakajo syndrome. Click on the link to view a sample search on this topic.

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