Rare Medical 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.
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.
#N/A
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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 | ||
|
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 |
0011227 | |
| Elevated |
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 |
0012785 | |
|
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 |
0030356 | |
| Increased thyroid-stimulating |
0002925 | |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
|
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 |
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 | |
| 0001250 | ||
|
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 |
|
Low platelet count
|
0001873 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Adipose |
Loss of fat tissue
|
0008887 |
| 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 ] |
DiagnosisMaking 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
Learn moreThese 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
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