Rhizomelic Chondrodysplasia Punctata disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

Sources:
¹¹Disease Ontology, ¹³DISEASES, ²⁵Genetics Home Reference, ²⁷GTR, ³⁰ICD10, ³¹ICD10 via Orphanet, ³⁹MeSH, ⁴⁰MESH via Orphanet, ⁴⁵NCIt, ⁵⁰Novoseek, ⁵⁴Orphanet, ⁶²SNOMED-CT, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata ¹¹ ²⁵ ⁵⁴ ¹³

Chondrodysplasia Punctata, Rhizomelic ²⁵ ²⁷ ³⁹ ⁶⁸

Rcdp ²⁵ ⁵⁴

Chondrodysplasia Punctata, Rhizomelic Form ¹¹

Chondrodysplasia Punctata Rhizomelic ⁵⁰

Rcp ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁴

rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

Classifications:

MalaCards categories:
Global: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³⁰

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Chondrodysplasia punctata

Orphanet: ⁵⁴

Rare neurological diseases

Rare eye diseases

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology¹¹ DOID:2580

ICD10³⁰ E71.540

MeSH³⁹ D018902

NCIt⁴⁵ C85047

SNOMED-CT⁶² 56692003

Orphanet⁵⁴ ORPHA177

MESH via Orphanet⁴⁰ D018902

UMLS via Orphanet⁶⁹ C0282529

ICD10 via Orphanet³¹ Q77.3

UMLS⁶⁸ C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

Sources:
¹¹Disease Ontology, ²⁵Genetics Home Reference, ³⁶MalaCards, ⁷¹Wikipedia
See all MalaCards sources

Disease Ontology:¹¹ A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has material basis in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.

MalaCards based summary: Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata type 5 and chondrodysplasia punctata, rhizomelic, type 1, and has symptoms including Array, Array and Array. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways are Glycerophospholipid Biosynthetic Pathway and Peroxisomal lipid metabolism. Affiliated tissues include bone, brain and skin, and related mouse phenotypes are liver/biliary system and reproductive system.

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.

Wikipedia:⁷¹ Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Related Diseases for Rhizomelic Chondrodysplasia Punctata

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

Diseases in the Rhizomelic Chondrodysplasia Punctata family:

Chondrodysplasia Punctata, Rhizomelic, Type 2	Chondrodysplasia Punctata, Rhizomelic, Type 3
Chondrodysplasia Punctata, Rhizomelic, Type 1	Rhizomelic Chondrodysplasia Punctata Type 5
Rhizomelic Chondrodysplasia Punctata Spectrum

Diseases related to Rhizomelic Chondrodysplasia Punctata via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)

id	Related Disease	Score	Top Affiliating Genes
1	rhizomelic chondrodysplasia punctata type 5	12.6
2	chondrodysplasia punctata, rhizomelic, type 1	12.2
3	chondrodysplasia punctata, rhizomelic, type 3	12.2
4	chondrodysplasia punctata, rhizomelic, type 2	12.2
5	rhizomelic chondrodysplasia punctata spectrum	12.1
6	peroxisome biogenesis disorder 9b	11.3
7	peroxisome biogenesis disorder 1a	11.3
8	peroxisome biogenesis disorder 6a	11.1
9	peroxisome biogenesis disorder 13a	11.1
10	peroxisome biogenesis disorder 12a	11.1
11	peroxisome biogenesis disorder 11a	11.1
12	peroxisome biogenesis disorder 4a	11.1
13	peroxisome biogenesis disorder 10a	11.1
14	peroxisome biogenesis disorder 5a	11.1
15	peroxisomal fatty acyl-coa reductase 1 disorder	11.1
16	peroxisome biogenesis disorder 8a,	11.1
17	peroxisome biogenesis disorder 2a	11.1
18	peroxisome biogenesis disorder 3a	11.1
19	peroxisome biogenesis disorder 7a	11.1
20	robin sequence with cleft mandible and limb anomalies	11.0
21	zellweger syndrome	10.4
22	peroxisome disorders	10.4
23	refsum disease	10.2
24	cervicitis	10.2
25	adrenoleukodystrophy	10.1
26	cataract	10.1
27	hepatitis	10.1
28	neonatal respiratory failure	10.1
29	respiratory failure	10.1
30	neuronitis	10.1
31	peroxisomal biogenesis disorders	10.1
32	growth hormone deficiency, isolated, type ii	10.0	PEX5, PEX7
33	spinocerebellar ataxia, autosomal recessive 13	9.9	HADHB, PEX7
34	deafness, dystonia, and cerebral hypomyelination	9.9	PEX26, PEX5
35	doughnut lesions of skull, familial	9.9	GNPAT, PEX5, PEX7
36	pulmonary fibrosis, familial	9.9	PEX26, PEX5
37	phacomatosis pigmentokeratotica	9.9	PEX5, PEX7
38	breast cancer	9.9
39	heimler syndrome 1	9.8	GNPAT, PEX26, PEX5
40	nephrotic syndrome ocular anomalies	9.8	PEX26, PEX5, PEX7
41	bardet-biedl syndrome 5	9.8	AGPS, GNPAT, PEX5, PEX7
42	holoprosencephaly 6	9.8	AGPS, GNPAT, PEX5, PEX7
43	muscular dystrophy, congenital, 1b	9.8	AGPS, GNPAT, PEX5, PEX7
44	macroglobulinemia	9.7	AGPS, GNPAT, PEX26, PEX5
45	asparagine synthetase deficiency	9.6	GNPAT, PEX26, PEX5, PEX7, PHYH
46	parapsoriasis	9.5	GNPAT, HADHB, MVK, PEX5
47	phacomatosis pigmentovascularis	9.3	AGPS, GNPAT, HADHB, PEX5, PEX7, PHYH
48	diabetes, mellitus, insulin-dependent 10	9.2	GNPAT, HADHB, PEX26, PEX5, PEX7, PHYH
49	glottis neoplasm	8.9	AGPS, GNPAT, HADHB, MVK, PEX26, PEX5

Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata:

Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata

Sources:
⁴¹MGI, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

⁵⁴ ⁶⁴ (show all 20)

id	Description	Orphanet Frequency	HPO Source Accession
1	abnormality of the teeth⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000164
2	microcephaly⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000252
3	epicanthus⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000286
4	cataract⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000518
5	abnormality of the metaphyses⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000944
6	dry skin⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0000958
7	limitation of joint mobility⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0001376
8	growth delay⁵⁴	Very frequent (99-80%)
9	alopecia⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0001596
10	sparse body hair⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0002231
11	scoliosis⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0002650
12	spina bifida occulta⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0003298
13	short stature⁵⁴	Very frequent (99-80%)
14	abnormality of epiphysis morphology⁵⁴	Very frequent (99-80%)
15	ichthyosis⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0008064
16	rhizomelia⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0008905
17	limb undergrowth⁵⁴	Very frequent (99-80%)
18	epiphyseal stippling⁶⁴ ⁵⁴	Very frequent (99-80%)	HP:0010655
19	intellectual disability, severe⁶⁴ ⁵⁴	Occasional (29-5%)	HP:0010864
20	flat face⁶⁴ ⁵⁴	Frequent (79-30%)	HP:0012368

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	9.4	HADHB, PEX5, PEX7, PHYH
2	reproductive system	MP:0005389	8.4	AGPS, GNPAT, PEX5, PEX7, PHYH
3	homeostasis/metabolism	MP:0005376	8.0	AGPS, GNPAT, HADHB, PEX26, PEX5, PEX7

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Sources:
⁴ClinicalTrials, ⁷Cochrane Library, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)	Recruiting	NCT01668186

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Cochrane evidence based reviews: chondrodysplasia punctata, rhizomelic

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

Sources:
²⁷GTR
See all MalaCards sources

Genetic tests related to Rhizomelic Chondrodysplasia Punctata:

id	Genetic test	Affiliating Genes
1	Rhizomelic Chondrodysplasia Punctata²⁷

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

³⁶

Bone, Brain, Skin, Eye, Colon, Spinal cord, Heart

Publications for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵⁷PubMed
See all MalaCards sources

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 82)

id	Title	Authors	Year
1	Growth charts for individuals with rhizomelic chondrodysplasia punctata. (27616591)	Duker A.L.... Bober M.B.	2016
2	Congenital heart defects common in rhizomelic chondrodysplasia punctata. (26408048)	Duker A.L.... Bober M.B.	2015
3	Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. (26587300)	Jacobsen J.C.... Lehnert K.	2015
4	Rare Case of Rhizomelic Chondrodysplasia Punctata. (27299065)	Mahale Y.... Chaudhari A.	2015
5	Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)	A8im A.... Braverman N.E.	2015
6	A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (26220973)	BarA... Frengen E.	2015
7	Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. (25432520)	Malheiro A.R.... Brites P.	2015
8	Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (24849933)	Noguchi M.... Fujiki Y.	2014
9	A case of rhizomelic chondrodysplasia punctata in newborn. (24715923)	KarabayA+r N.... Korkmaz O.	2014
10	C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)	Salamian A.... Nasr-Esfahani M.H.	2013
11	The neurology of rhizomelic chondrodysplasia punctata. (24172221)	Bams-Mengerink A.M.... Poll-The B.T.	2013
12	Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)	Roy A.... Chakraborty S.	2013
13	An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)	Chatterjee S.... Sinha M.K.	2013
14	Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. (23357221)	Mohamadynejad P.... Nasr-Esfahani M.H.	2013
15	Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)	Huffnagel I.C.... Poll-The B.T.	2013
16	Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)	Nayak S.S.... Girisha K.M.	2012
17	Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)	Chhavi N.... Karthikeyan K.	2012
18	Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100)	Itzkovitz B.... Braverman N.	2012
19	Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)	Kanzawa N.... Kinoshita T.	2012
20	Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)	Oswald G.... Braverman N.	2011
21	Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)	Tinnion R.J.... Harigopal S.	2011
22	Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)	Phadke S.R.... Braverman N.	2010
23	Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)	Zwijnenburg P.J.... Tan-Sindhunata M.B.	2010
24	Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)	Goh S.	2007
25	MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. (16567694)	Bams-Mengerink A.M.... Poll-The B.T.	2006
26	Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)	BaA9buA9 M.... Tayyar M.	2005
27	Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. (15933890)	Fairbanks T.... Emil S.	2005
28	Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)	Sigirci A.... GA1lcan H.	2005
29	Natural history of rhizomelic chondrodysplasia punctata. (12687664)	White A.L.... Pauli R.M.	2003
30	Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)	Brites P.... Baes M.	2003
31	Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)	Alkan A.... Sarac K.	2003
32	Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024)	Braverman N.... Valle D.	2002
33	Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. (11781871)	Motley A.M.... Waterham H.R.	2002
34	MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)	Viola A.... Cozzone P.J.	2002
35	Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)	Khanna A.J.... Sponseller P.D.	2001
36	Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)	Sztriha L.... Lestringant G.G.	2000
37	A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. (10083738)	Shimozawa N.... Kondo N.	1999
38	Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)	Brookhyser K.M.... Rimoin D.L.	1999
39	Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)	Purdue P.E.... Lazarow P.B.	1999
40	Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)	Powers J.M.... Moser H.W.	1999
41	Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)	Hertzberg B.S.... Bowie J.D.	1999
42	Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. (9686382)	Brites P.... Wanders R.J.	1998
43	Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)	Wanders R.J.... Romeijn G.J.	1998
44	Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)	Ofman R.... Wanders R.J.A.	1998
45	Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (9090383)	Purdue P.E.... Lazarow P.B.	1997
46	Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)	Jansen G.A.... Wanders R.J.	1997
47	Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)	Mota C.R.... Lima M.R.	1997
48	Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)	Motley A.M.... Distel B.	1997
49	Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)	Braverman N.... Valle D.	1997
50	Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. (8725164)	Pahan K.... Singh I.	1996

Genes related to Rhizomelic Chondrodysplasia Punctata

Sources:
⁵Clinvar, ¹³DISEASES, ²¹GeneCards, ⁵⁰Novoseek
See all MalaCards sources

Genes related to Rhizomelic Chondrodysplasia Punctata (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	PEX5	Peroxisomal Biogenesis Factor 5	438.97	Pathogenic ⁵ DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
2	PEX7	Peroxisomal Biogenesis Factor 7	74.01	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	10083738, 12325024, 20145307 more 9090381, 10673331, 12522768, 9090383
3	GNPAT	Glyceronephosphate O-Acyltransferase	72.61	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	8466247, 7530787, 7914249
4	AGPS	Alkylglycerone Phosphate Synthase	70.62	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	10683770
5	PHYH	Phytanoyl-CoA 2-Hydroxylase	55.97	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries (show sections)	9266377
6	HADHB	Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit	39.28	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	8059925
7	MVK	Mevalonate Kinase	36.76	Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications (show sections)	9647750, 9686383
8	PEX26	Peroxisomal Biogenesis Factor 26	29.83	GeneCards inferred via : Disorders, Summaries (show sections)

Variations for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵Clinvar
See all MalaCards sources

Clinvar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PEX5	NM_ 001131023.1(PEX5): c.722dupA (p.Val242Glyfs)	duplication	Pathogenic	rs796051881	GRCh38	Chr 12, 7202275: 7202275

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards, ⁶⁰Reactome
See all MalaCards sources

Pathways related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id	Super pathways	Score	Top Affiliating Genes
1	Glycerophospholipid Biosynthetic Pathway⁴² Show member pathways Plasmalogen biosynthesis⁶⁰	9.6	AGPS, GNPAT
2	Peroxisomal lipid metabolism⁶⁰ Show member pathways Beta-oxidation of very long chain fatty acids⁶⁰ Beta-oxidation of pristanoyl-CoA⁶⁰ Alpha-oxidation of phytanate⁶⁰ fatty acid alpha-oxidation⁴²	9.1	AGPS, GNPAT, PHYH
3	Peroxisome³⁴	7.0	AGPS, GNPAT, MVK, PEX26, PEX5, PEX7

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁹Gene Ontology
See all MalaCards sources

Cellular components related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	peroxisomal matrix	GO:0005782	9.3	AGPS, GNPAT, PEX7, PHYH
2	peroxisomal membrane	GO:0005778	9.3	AGPS, GNPAT, PEX26, PEX5
3	mitochondrion	GO:0005739	8.7	AGPS, GNPAT, HADHB, PEX5, PHYH
4	peroxisome	GO:0005777	7.0	AGPS, GNPAT, MVK, PEX26, PEX5, PEX7

Biological processes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular lipid metabolic process	GO:0044255	10.4	GNPAT, PEX5
2	neuron migration	GO:0001764	10.2	PEX5, PEX7
3	peroxisome organization	GO:0007031	10.1	PEX5, PEX7
4	ether lipid biosynthetic process	GO:0008611	9.9	AGPS, GNPAT, PEX7
5	fatty acid beta-oxidation	GO:0006635	9.8	HADHB, PEX5, PEX7
6	protein import into peroxisome membrane	GO:0045046	9.6	PEX26, PEX5
7	protein import into peroxisome matrix	GO:0016558	9.4	PEX26, PEX5, PEX7
8	lipid metabolic process	GO:0006629	9.2	AGPS, HADHB, MVK
9	metabolic process	GO:0008152	9.2	GNPAT, HADHB, MVK