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Gene: MKKS

Green List (high evidence)

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder predominantly characterised by obesity, retinal dystrophy, polydactyly, learning difficulties, hypogenitalism, and renal malformations, with secondary features that include diabetes mellitus, endocrinologic dysfunction, and behavioural abnormalities.
McKusick-Kaufman syndrome (MKKS) is an autosomal recessive disorder characterised by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations.
It has been suggested that MKKS may be an extremely rare presentation of BBS (absence of retinal degeneration, obesity, and cognitive impairment) linked to rare specific allelic variants of the MKKS gene, or modified by interactions with other genes (PMID: 21044901). This is supported by ClinGen: "the phenotypic variability between cases appears to represent a spectrum of disease rather than separate disease entities. Therefore, cases caused by inherited biallelic MKKS variants have been lumped into a single disease entity, referred to as MKKS-related ciliopathy" - MKKS-related ciliopathy MONDO:1040050.

Across phenotypic spectrum, at least 10 patients reported from unrelated families, animal models present. Onset in early chilhood and condition cna have severe preentation.

Created: 7 Feb 2025, 4:08 a.m. | Last Modified: 7 Feb 2025, 4:08 a.m.

Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050

Publications

• 10973238
• 10973251
• 12107442
• 20472660
• 15770229
• 20177705
• 28761321
• 30718709