What is McKusick Kaufman syndrome?

Description. Collapse Section. McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly ), heart defects, and genital abnormalities.

Why is OMIM important?

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.

What is a phenotype MIM number?

Symbols preceding MIM numbers An asterisk (*) before an entry number indicates a gene. A number symbol (#) before an entry number indicates that it is a descriptive entry, usually of a phenotype, and does not represent a unique locus.

Are there Mendelian traits in humans?

Several inheritable traits or congenital conditions in humans are classical examples of Mendelian inheritance: Their presence is controlled by a single gene that can either be of the autosomal-dominant or -recessive type. These traits include: Oculocutaneous Albinism. Rh Factor Blood type.

Is OMIM a database?

OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. This database was initiated in the early 1960s by Dr. Victor A.

Is OMIM a primary database?

Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick’s Mendelian Inheritance in Man (MIM) (1), is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.

What is a Mendelian disease?

Mendelian or monogenic diseases are caused by mutations in one gene. They run in families sometimes. Mendelian disorders are a result of a mutation at a single genetic locus. This locus could be present on an autosome or a sex chromosome. It can manifest itself in either dominant or recessive-mode.

What is Denys Drash Syndrome?

Denys-Drash syndrome (DDS) is characterized by abnormal kidney function (congenital nephropathy), a cancerous tumor of the kidney called Wilms tumor, and disorders of sexual development in affected males. Most affected females have normal genitalia.