type 2 Rhizomelic chondrodysplasia punctata

Also Known As:

Rhizomelic chondrodysplasia punctata, type 2; Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency; DHAPAT deficiency; Dihydroxyacetonephosphate acyltransferase deficiency; GNPAT deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Glyceronephosphate acyltransferase deficiency; Human dihydroxyacetonephosphate acyltransferase deficiency; Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency; Type 2 rhizomelic chondrodysplasia punctata

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Peroxisomal Disorders (Peroxisomal Disorder)
2.	Rhizomelic Chondrodysplasia Punctata
3.	Zellweger Syndrome (Zellweger's Syndrome)
4.	Open-Angle Glaucoma (Glaucoma, Open Angle)

Experts

1.	Gupta, Girish: 1 article (10/2018)
2.	Pandita, Aakash: 1 article (10/2018)
3.	Panghal, Astha: 1 article (10/2018)
4.	Singh, Vijay: 1 article (10/2018)
5.	Donders, Rogier A T: 1 article (01/2017)
6.	Keleman, Krystyna: 1 article (01/2017)
7.	Koemans, Tom S: 1 article (01/2017)
8.	Kramer, Jamie M: 1 article (01/2017)
9.	Oppitz, Cornelia: 1 article (01/2017)
10.	Schenck, Annette: 1 article (01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 2 Rhizomelic chondrodysplasia punctata:

1.	EnzymesIBA 01/01/1995 - "Accurate measurement of the activity of this enzyme is of great importance, especially since it is a central parameter in the prenatal diagnosis of the disorders of peroxisome biogenesis, rhizomelic chondrodysplasia punctata and DHAPAT-deficiency. " 01/01/2023 - "The gnpat expression pattern and the molecular determinants regulating Gnpat activity advance our knowledge of this enzyme, contributing to our understanding of the retinal pathophysiology associated with GNPAT deficiency." 10/12/2018 - "Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome. "
2.	glycerone-phosphate O-acyltransferaseIBA 07/01/2000 - "The case of a Yemeni girl with isolated peroxisomal acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) deficiency is reported. " 05/01/1998 - "Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2." 10/12/2018 - "Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome. "
3.	Acyl Coenzyme A (Acyl CoA)IBA 07/01/2000 - "The case of a Yemeni girl with isolated peroxisomal acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) deficiency is reported. " 05/01/1998 - "Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2."
4.	Small Interfering RNA (siRNA)IBA 08/01/2015 - "To examine functional consequences of GNPAT deficiency, we performed small interfering RNA-based knockdown of GNPAT in the human liver-derived cell line, HepG2/C3A. "
5.	Complementary DNA (cDNA)IBA 05/01/1998 - "Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2."
6.	Retinaldehyde (Retinal)IBA 01/01/2023 - "The gnpat expression pattern and the molecular determinants regulating Gnpat activity advance our knowledge of this enzyme, contributing to our understanding of the retinal pathophysiology associated with GNPAT deficiency."
7.	PlasmalogensIBA 04/01/2012 - "Although their biological functions are unclear, the alteration of cellular plasmalogen content has been associated with several human disorders such as rhizomelic chondrodysplasia punctata Type 2 and primary open-angle glaucoma. "
8.	LipidsIBA 06/15/2012 - "Isolated defects of ether lipid (EL) biosynthesis in humans cause rhizomelic chondrodysplasia punctata type 2 and type 3, serious peroxisomal disorders. "
9.	Ether (Diethyl Ether)IBA 06/15/2012 - "Isolated defects of ether lipid (EL) biosynthesis in humans cause rhizomelic chondrodysplasia punctata type 2 and type 3, serious peroxisomal disorders. "
10.	AcyltransferasesIBA 01/01/2017 - "The human ortholog of Dhap-at, glyceronephosphate O-acyltransferase (GNPT), is involved in rhizomelic chondrodysplasia punctata type 2, an autosomal-recessive syndrome characterized by severe ID. "