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McKusick Kaufman syndrome

A hereditary autosomal recessive disorder characterized by genitourinary malformations, especially hydrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations. Mutations in the MKKS gene have been identified. OMIM: 236700
Also Known As:
Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; Kaufman McKusick syndrome; Kaufman-Mckusick Syndrome; Mckusick-Kaufman Syndrome
Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
2. Leber Congenital Amaurosis
3. Usher Syndromes (Usher Syndrome)
4. Hypertensive Encephalopathy
5. Retinitis Pigmentosa (Pigmentary Retinopathy)

Experts

1. Akimoto, Chizuru: 1 article (03/2013)
2. Endo, Hitoshi: 1 article (03/2013)
3. Hamamoto, Toshiro: 1 article (03/2013)
4. Kasashima, Katsumi: 1 article (03/2013)
5. Kuroiwa, Kenji: 1 article (03/2013)
6. Sakashita, Eiji: 1 article (03/2013)
7. Tominaga, Kaoru: 1 article (03/2013)
8. Hillel, J: 1 article (12/2011)
9. Lavi, U: 1 article (12/2011)
10. Madeleine, D: 1 article (12/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to McKusick Kaufman syndrome:
1. ChaperoninsIBA
2. Leptin ReceptorsIBA
3. Mitochondrial Proteins (Mitochondrial Protein)IBA
4. Adrenergic Agents (Adrenergic Drugs)IBA
5. Complementary DNA (cDNA)IBA
6. Messenger RNA (mRNA)IBA
7. Retinaldehyde (Retinal)IBA
8. Proteins (Proteins, Gene)FDA Link
9. Factor VIII (Coagulation Factor VIII)IBA
10. Epidermal Growth Factor (EGF)IBA

Therapies and Procedures

1. Catheters
2. Peritoneal Dialysis
3. Laparotomy
4. Anesthesia