Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Thyroiddyshormonogenesis 2a

Die Thyroiddyshormonogenesis 2a ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im TPO-Gen verursacht wird.

Gliederung

Thyroiddyshormonogenesis
Pendred-Syndrom
Thyroiddyshormonogenesis 1
Thyroiddyshormonogenesis 2a
TPO
Thyroiddyshormonogenesis 3
Thyroiddyshormonogenesis 4
Thyroiddyshormonogenesis 5
Thyroiddyshormonogenesis 6

Referenzen:

1.

Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene.

external link
2.

HADDAD HM et al. (1959) Defect of the iodinating system in congenital goitrous cretinism: report of a case with biochemical studies.

external link
3.

PARKER RH et al. (1961) Inheritance of defective organification of iodine in familial goitrous cretinism.

external link
4.

Medeiros-Neto GA et al. (1982) Familial thyroid peroxidase defect.

external link
5.

None (1983) Congenital goiter with defective iodide transport.

external link
6.

Pommier J et al. (1974) A defective thyroid peroxidase solubilized from a familial goiter with iodine organification defect.

external link
7.

Niepomniszcze H et al. (1973) Peroxidase defect in congenital goiter with complete organification block.

external link
8.

Hagen GA et al. (1971) Peroxidase deficiency in familial goiter with iodide organification defect.

external link
9.

Alexander NM et al. (1970) Thyroxine biosynthesis in human goitrous cretinism.

external link
10.

Mangklabruks A et al. (1991) Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency.

external link
11.

Anker R et al. (1992) Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus.

external link
12.

Pommier J et al. (1976) Thyroid iodine organification defects: a case with lack of thyroglobulin iodination and a case without any peroxidase activity.

external link
13.

Perez-Cuvit E et al. (1977) Partial and total iodide organification defect in different sibships in a kindred.

external link
14.

Niepomniszcze H et al. (1975) Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism.

external link
15.

Cavarzere P et al. (2008) Clinical description of infants with congenital hypothyroidism and iodide organification defects.

external link
16.

None (1964) GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM.

external link
17.

None (1964) DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS.

external link
18.

Bakker B et al. (2000) Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).

external link
19.

Pannain S et al. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

external link
20.

Medeiros-Neto G et al. (1998) Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene.

external link
21.

Bikker H et al. (1996) Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.

external link
22.

Bikker H et al. (1994) A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.

external link
23.

Bikker H et al. (1995) Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

external link
24.

Abramowicz MJ et al. (1992) Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

external link
25.

Couch RM et al. (1985) Congenital hypothyroidism caused by defective iodide transport.

external link
26.

Park SM et al. (2005) Genetics of congenital hypothyroidism.

external link
27.

OMIM.ORG article

Omim 274500 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum