Rare Cardiology 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

-

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)

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 hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
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 hypertension
0001409
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Ptosis
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
Short stature
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 diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
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.