Hardikar syndrome

Also Known As:

Cholestasis-pigmentary retinopathy-cleft palate syndrome

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Digestive System Diseases: 1042
- Biliary Tract Diseases: 466
  - Bile Duct Diseases: 95
    - Cholestasis: 7937
      - Hardikar syndrome: 4
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Cleft Palate: 2757
        Hardikar syndrome: 4
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Cleft Palate: 2757
      - Hardikar syndrome: 4
Stomatognathic Diseases: 705
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Cleft Palate: 2757
        Hardikar syndrome: 4
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Cleft Palate: 2757
        Hardikar syndrome: 4
    - Mouth Abnormalities: 1
      - Cleft Palate: 2757
        Hardikar syndrome: 4
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Retinitis Pigmentosa: 3975
      - Hardikar syndrome: 4
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Retinal Dystrophies: 743
      - Retinitis Pigmentosa: 3975
        Hardikar syndrome: 4
- Hereditary Eye Diseases: 18
  - Retinitis Pigmentosa: 3975
    - Hardikar syndrome: 4

Related Diseases

1.	Retinitis Pigmentosa (Pigmentary Retinopathy)
2.	Cleft Lip (Harelip)
3.	Cholestasis

Experts

1.	Brouwer, Arjan Pm de: 1 article (01/2021)
2.	Plassche, Stijn van de: 1 article (01/2021)
3.	Bhoj, Elizabeth J: 1 article (02/2016)
4.	Ellis, Alexander R: 1 article (02/2016)
5.	Hakonarson, Hakon: 1 article (02/2016)
6.	Li, Dong: 1 article (02/2016)
7.	Raafat, Reem: 1 article (02/2016)
8.	Ryan, Kaitlin M: 1 article (02/2016)
9.	Schrier Vergano, Samantha: 1 article (02/2016)
10.	Fisher, Robert A: 1 article (10/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hardikar syndrome:

1.	Retinaldehyde (Retinal)IBA 08/15/2023 - "Multimodal Retinal Imaging Findings in Hardikar Syndrome." 02/01/2016 - "Hardikar syndrome is a multiple congenital anomaly syndrome first characterized in 1992 by Hardikar et al. to describe two individuals with cholestasis, cleft lip/palate, retinal pigmentation, intestinal abnormalities, and genitourinary anomalies. " 08/15/2023 - "To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. "
2.	Fluorescein (Funduscein)FDA LinkGeneric 08/15/2023 - "To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. "
3.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a clinical spectrum centered around ID and Hardikar syndrome without ID. " 01/01/2021 - "The de novo nonsense variants resulting in Hardikar syndrome that is characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, are found more N-terminally, whereas the more C-terminally positioned variants are de novo protein truncating variants that cause a severe, syndromic phenotype consisting of ID, facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. "
4.	Indocyanine Green (Cardio-Green)FDA LinkGeneric 08/15/2023 - "To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. "

Therapies and Procedures

1.	Liver Transplantation 10/15/2002 - "We report the case of a girl with Hardikar syndrome who underwent living-donor liver transplantation at 2 years of age. " 10/15/2002 - "Hardikar syndrome: a case requiring liver transplantation."