Entry - #612225 - MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 - OMIM - (MIRROR)

 
ICD+
# 612225

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
7q32.1 Maturity-onset diabetes of the young, type IX 612225 3 PAX4 167413

▼ TEXT

A number sign (#) is used with this entry because MODY9 is caused by heterozygous mutation in the PAX4 gene (167413).

For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.

▼ Molecular Genetics

Plengvidhya et al. (2007) screened the PAX4 gene in 46 Thai probands with MODY who did not have mutations in known MODY genes and identified heterozygous mutations in 2 probands (167413.0004 and 167413.0005). Neither mutation was found in 344 controls of Thai origin.


▼ REFERENCES

  1. Plengvidhya, N., Kooptiwut, S., Songtawee, N., Doi, A., Furuta, H., Nishi, M., Nanjo, K., Tantibhedhyangkul, W., Boonyasrisawat, W., Yenchitsomanus, P., Doria, A., Banchuin, N. PAX4 mutations in Thais with maturity onset diabetes of the young. J. Clin. Endocr. Metab. 92: 2821-2826, 2007. [PubMed: 17426099, related citations] [Full Text]


Contributors:
Marla J. F. O'Neill - updated : 4/19/2010
Creation Date:
Marla J. F. O'Neill : 8/6/2008
Edit History:
carol : 07/01/2010
terry : 4/19/2010
terry : 2/19/2009
carol : 8/6/2008
carol : 8/6/2008

# 612225

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9


SNOMEDCT: 609576002;   ORPHA: 552;   DO: 0111107;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
7q32.1 Maturity-onset diabetes of the young, type IX 612225 3 PAX4 167413

TEXT

A number sign (#) is used with this entry because MODY9 is caused by heterozygous mutation in the PAX4 gene (167413).

For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.

Molecular Genetics

Plengvidhya et al. (2007) screened the PAX4 gene in 46 Thai probands with MODY who did not have mutations in known MODY genes and identified heterozygous mutations in 2 probands (167413.0004 and 167413.0005). Neither mutation was found in 344 controls of Thai origin.


REFERENCES

  1. Plengvidhya, N., Kooptiwut, S., Songtawee, N., Doi, A., Furuta, H., Nishi, M., Nanjo, K., Tantibhedhyangkul, W., Boonyasrisawat, W., Yenchitsomanus, P., Doria, A., Banchuin, N. PAX4 mutations in Thais with maturity onset diabetes of the young. J. Clin. Endocr. Metab. 92: 2821-2826, 2007. [PubMed: 17426099] [Full Text: https://doi.org/10.1210/jc.2006-1927]


Contributors:
Marla J. F. O'Neill - updated : 4/19/2010

Creation Date:
Marla J. F. O'Neill : 8/6/2008

Edit History:
carol : 07/01/2010
terry : 4/19/2010
terry : 2/19/2009
carol : 8/6/2008
carol : 8/6/2008



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 29, 2024