Rare Hematology News

Disease Profile

Hardikar 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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)

Cholestasis-pigmentary retinopathy-cleft palate syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary

Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects.[1][2] Only four cases have been reported in the medical literature.[2] The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated.[1][3][4]

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 palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Congenital onset
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
Jaundice
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 hypertension
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

  1. Cholestasis-pigmentary retinopathy-cleft palate syndrome. Orphanet. October 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1415.
  2. 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.
  3. 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.
  4. 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.