Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Polycystic kidney disease with hyperinsulinemic hypoglycemia

Hyperinsulinemic hypoglycemia with polycystic kidney disease is an autosomal recessive disorder caused by homozygous promotor mutations or compound heterozygous promotor mutation with a coding mutation of the PMM2 gene. The disease manifests early in childhood.

Epidemiology

17 such cases in 11 families are described yet.[Error: Macro 'ref' doesn't exist]

Systematic

Cystic kidney disease
Alagille syndrome 2
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney and hepatic disease 1
Branchiootorenal dysplasia
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hajdu-Cheney syndrome
Medullary cystic disease complex
Polycystic kidney disease with hyperinsulinemic hypoglycemia
PMM2
Renal cysts and diabetes (RCAD)

References:

1.

Van Schaftingen E et al. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

external link
2.

Cabezas OR et al. (2017) Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

external link
3.

Vega AI et al. (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

external link
4.

Schollen E et al. (2007) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

external link
5.

Quelhas D et al. (2007) Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

external link
6.

Westphal V et al. (2002) A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

external link
7.

Grünewald S et al. (2001) High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

external link
8.

Bjursell C et al. (2000) PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

external link
9.

Matthijs G et al. (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

external link
10.

Vuillaumier-Barrot S et al. (2000) Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.

external link
11.

Schollen E et al. (2000) Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

external link
12.

Kjaergaard S et al. (1999) Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

external link
13.

Kondo I et al. (1999) Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

external link
14.

Kjaergaard S et al. () Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

external link
15.

Matthijs G et al. (1998) Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

external link
16.

Schollen E et al. (1998) Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.

external link
17.

Matthijs G et al. (1997) PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.

external link
18.

Neumann LM et al. (2003) Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

external link
19.

Briones P et al. (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

external link
20.

Böhles H et al. (2001) Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

external link
21.

Matthijs G et al. (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

external link
22.

Bjursell C et al. () Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.

external link
23.

Matthijs G et al. (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

external link
24.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

external link
25.

OMIM.ORG article

Omim 601785 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits