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Article

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Journal of medical genetics - 1 Oct 2009

Otto E A, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise E L, Wolf M T F, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F

Abstract excerpt

BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Løken syndrome),...

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Source

Identifiers

PMID: 19508969
DOI: 10.1136/jmg.2009.066613

Genes

TMEM67
NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19508969-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).PMID 19508969Read ↗

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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Semantic proximity Read ↗

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).Semantic proximity Read ↗

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