Details of Disease

General Information of Disease (ID: DIS8JXFP)

Disease Name McKusick-Kaufman syndrome
Synonyms
Kaufman McKusick syndrome; McKusick Kaufman syndrome; HMCS; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; MKKS; hydrometrocolpos syndrome; MCKUSICK-Kaufman syndrome; McKusick-Kaufman syndrome; Kaufman-Mckusick syndrome; hydrometrocolpos-postaxial polydactyly syndrome
Definition
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
Disease Hierarchy
DISYKSRF: Genetic disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DIS8JXFP: McKusick-Kaufman syndrome
Disease Identifiers
MONDO ID
MONDO_0009367
MESH ID
C538159
UMLS CUI
C0948368
OMIM ID
236700
MedGen ID
184924
Orphanet ID
2473
SNOMED CT ID
702407009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MC5R TT6QAJ3 Strong Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BBS2 OTPF9JIB Strong Genetic Variation [2]
MKS1 OT83W5PB Strong Genetic Variation [3]
MKKS OTLF5T11 Definitive Autosomal recessive [4]
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References

1 Comparative genome analysis with the human genome reveals chicken genes associated with fatness and body weight.Anim Genet. 2011 Dec;42(6):642-9. doi: 10.1111/j.1365-2052.2011.02191.x. Epub 2011 Apr 13.
2 The molecular genetics of Bardet-Biedl syndrome.Curr Opin Genet Dev. 2001 Jun;11(3):317-21. doi: 10.1016/s0959-437x(00)00196-9.
3 A female with complete lack of Mllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?.Am J Med Genet A. 2004 Aug 15;129A(1):69-72. doi: 10.1002/ajmg.a.30071.
4 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May;25(1):79-82. doi: 10.1038/75637.