Rare Nephrology News
Disease Profile
ITCH E3 ubiquitin ligase deficiency
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.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
-
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)
Syndromic multisystem autoimmune disease; Autoimmune disease, syndromic multisystem
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
|
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Chronic diarrhea | 0002028 | |
| 1%-4% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
| Chronic lung disease | 0006528 | |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
| Decreased circulating IgA level | 0002720 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
| Feeding difficulties in infancy | 0008872 | |
| Frontal bossing | 0002007 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Global |
0001263 | |
| Hallux valgus |
Bunion
|
0001822 |
| Hashimoto thyroiditis | 0000872 | |
| Hepatitis |
Liver inflammation
|
0012115 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypersplenism | 0001971 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Increased vertebral height | 0004570 | |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
| Low hanging columella | 0009765 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Motor delay | 0001270 | |
| Pancytopenia |
Low blood cell count
|
0001876 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Portal |
0001409 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
|
Drooping upper eyelid
|
0000508 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| Reduced forced expiratory volume in one second | 0032342 | |
| Relative macrocephaly |
Relatively large head
|
0004482 |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ] |
0000331 |
| Short philtrum | 0000322 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Single transverse palmar crease | 0000954 | |
| Slender long bone |
Long bones slender
Thin long bones
[ more ] |
0003100 |
| Thoracic kyphoscoliosis | 0005659 | |
| Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
| Splenomegaly |
Increased spleen size
|
0001744 |
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
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss ITCH E3 ubiquitin ligase deficiency. Click on the link to view a sample search on this topic.