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

Hypoparathyroidism-retardation-dysmorphism syndrome

Sanjad-Sakati syndrome is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation, and seizures.

Systematic

Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
PTH

References:

1.

Parvari R et al. (2002) Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

external link
2.

Kelly TE et al. (2000) Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.

external link
3.

Kalam MA et al. (1992) Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.

external link
4.

Courtens W et al. (2006) Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

external link
5.

Richardson RJ et al. (1990) Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

external link
6.

Sanjad SA et al. (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

external link
7.

Hershkovitz E et al. (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

external link
8.

Marsden D et al. (1994) Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.

external link
9.

Parvari R et al. (1998) Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

external link
10.

Orphanet article

Orphanet ID 2323 external link
11.

OMIM.ORG article

Omim 241410 external link
12.

Wikipedia article

Wikipedia EN (Sanjad-Sakati_syndrome) 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