Rare Dermatology News
Advertisement
Disease Profile
Hardikar syndrome
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 >
Age of onset
Neonatal
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)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
Summary
Hardikar
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 | ||
Chorioretinal degeneration | 0200065 | |
Percent of people who have these symptoms is not available through HPO | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cholangitis |
Bile duct inflammation
|
0030151 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
Symptoms present at birth
|
0003577 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
Intestinal malrotation | 0002566 | |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Mottled pigmentation |
Mottled skin coloring
|
0001070 |
Patent ductus arteriosus | 0001643 | |
Patent foramen ovale | 0001655 | |
Pigmentary retinopathy | 0000580 | |
Portal |
0001409 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Splenomegaly |
Increased spleen size
|
0001744 |
Sporadic |
No previous family history
|
0003745 |
Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
Vaginal atresia |
Abnormally closed or absent vagina
|
0000148 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vesicoureteral reflux | 0000076 |
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 Hardikar syndrome. Click on the link to view a sample search on this topic.
References
- Cholestasis-pigmentary retinopathy-cleft palate syndrome. Orphanet. October 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1415.
- Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier-Vergano S. Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals. Am J Med Genet Part A. 2016 Feb; 170A(2):482-486. https://www.ncbi.nlm.nih.gov/pubmed/26471230.
- Ejarque I, Uliana V, Forzano F, Marciano C, Merla G, Zelante L, Di Maria E, Faravelli F. Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?. Clin Genet. 2011 Nov; 80(5):493-6. https://www.ncbi.nlm.nih.gov/pubmed/22243360.
- Poley JR, Proud VK. Hardikar syndrome: new features. Am J Med Genet A. 2008 Oct; 146A(19):2473-9. https://www.ncbi.nlm.nih.gov/pubmed/18792981.