Rhizomelic Chondrodysplasia Punctata (RCP)

External Ids:

Disease Ontology 12 DOID:2580 KEGG 36 H00207 MeSH 43 D018902 NCIt 49 C85047 SNOMED-CT 67 56692003 ICD10 32 E71.540

MESH via Orphanet 44 D018902 ICD10 via Orphanet 33 Q77.3 UMLS via Orphanet 72 C0282529 Orphanet 58 ORPHA177 SNOMED-CT via HPO 68 111266001 128306009 16386004 193570009 247053007 271611007 278040002 360507004 40700009 422775003 56317004 64217002 76916001 more UMLS 71 C0282529

Genetics Home Reference : ²⁵ Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy. Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common. Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. It is rare for affected children to live past age 10. However, a few individuals with milder features of the condition have lived into early adulthood. Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar features and are distinguished by their genetic cause.

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata, type 5 and rhizomelic chondrodysplasia punctata, type 3. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (Peroxisomal Biogenesis Factor 7), and among its related pathways/superpathways are Glycerophospholipid metabolism and Ether lipid metabolism. Affiliated tissues include bone, eye and brain, and related phenotypes are cataract and scoliosis

Disease Ontology : ¹² A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.

NIH Rare Diseases : ⁵² Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). People with RCDP have very poor growth and often develop joint deformities (contractures ) that make the joints stiff and painful. Other major features include distinctive facial features, intellectual disability , clouding of the lenses of the eyes (cataracts ), heart defects, and respiratory problems. There are 5 types of RCDP, classified according to the associated gene mutations : RCDP1 with PEX7 gene RCDP2 with GNPAT gene RCDP3 with AGPS gene RCDP4 (peroxisomal fatty acyl-CoA reductase 1 disorder) with FAR1 gene RCDP5 with PEX5 gene All these genes are involved in the formation and function of sac-like cell structures called peroxisomes that contain enzymes needed to break down many substances, including fatty acids known as plasmalogens. Deficiency of plasmalogen affects bone growth. Inheritance is autosomal recessive . There is no cure for RCDP. Treatment is symptomatic and may include physiotherapy and orthopedic procedures, eye surgery, and nutritional plans. For example, RCDP1 patients may need diet restriction of phytanic acid.

KEGG : ³⁶ Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.

Wikipedia : ⁷⁴ Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic... more...

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00240-S-1	9.64	PEX16 PEX26
2	Decreased viability	GR00249-S	9.64	AGPS PEX3 SLC25A17
3	Decreased viability	GR00381-A-1	9.64	GNPAT PHYH
4	Decreased viability	GR00386-A-1	9.64	AGPS HADHB PEX13 PEX16 PEX19 PEX26
5	Decreased viability	GR00402-S-2	9.64	ACAA1 PEX10 PEX12 PEX13 PEX2 PEX26

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata.