National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Nakajo syndrome



Other Names:
Nodular erythema digital changes
Categories:

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.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ]
0004322
Percent of people who have these symptoms is not available through HPO
Abnormally large globe
Increased size of eyes
Large eyes
[ more ]
0001090
Adipose tissue loss
Loss of fat tissue
0008887
Anemia
Low number of red blood cells or hemoglobin
0001903
Arthralgia
Joint pain
0002829
Autosomal recessive inheritance 0000007
Basal ganglia calcification 0002135
Bone pain 0002653
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 ]
0100759
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ]
0001635
Conjunctivitis
Pink eye
0000509
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
0002987
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated hepatic transaminase
High liver enzymes
0002910
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Erythema 0010783
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Finger swelling 0025131
Flexion contracture of toe 0005830
Growth abnormality
Abnormal growth
Growth issue
[ more ]
0001507
Hepatomegaly
Enlarged liver
0002240
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
0002155
Increased circulating antibody level 0010702
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Long fingers 0100807
Lymphadenopathy
Swollen lymph nodes
0002716
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
0000158
Macrotia
Large ears
0000400
Microcytic anemia 0001935
Muscle weakness
Muscular weakness
0001324
Osteopenia 0000938
Panniculitis
Inflammation of fat tissue
0012490
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
0000448
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Splenomegaly
Increased spleen size
0001744
Stiff skin 0030053
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
0000179
Thrombocytopenia
Low platelet count
0001873
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Last updated: 7/1/2020

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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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