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 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 peroxisome biogenesis disorder 9b and rhizomelic chondrodysplasia punctata type 5, and has symptoms including abnormality of the teeth, microcephaly and epicanthus. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways are Peroxisomal lipid metabolism and Peroxisome. 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 Spectrum
Rhizomelic Chondrodysplasia Punctata Type 5

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

(show all 42)

id	Related Disease	Score	Top Affiliating Genes
1	peroxisome biogenesis disorder 9b	31.0	HADHB, PEX5, PEX7
2	rhizomelic chondrodysplasia punctata type 5	12.5
3	chondrodysplasia punctata, rhizomelic, type 1	12.2
4	chondrodysplasia punctata, rhizomelic, type 3	12.1
5	chondrodysplasia punctata, rhizomelic, type 2	12.1
6	rhizomelic chondrodysplasia punctata spectrum	12.1
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	peroxisome disorders	10.4
22	refsum disease	10.2
23	cervicitis	10.2
24	adrenoleukodystrophy	10.1
25	cataract	10.1
26	hepatitis	10.1
27	neonatal respiratory failure	10.1
28	respiratory failure	10.1
29	neuronitis	10.1
30	peroxisomal biogenesis disorders	10.1
31	polycystic kidney disease, autosomal dominant	9.9	PEX26, PEX5
32	deafness, dystonia, and cerebral hypomyelination	9.9	PEX26, PEX5
33	breast cancer	9.9
34	growth hormone deficiency, isolated, type ii	9.9	PEX5, PEX7
35	metaphyseal dysplasia, braun-tinschert type	9.8	GNPAT, PEX5, PEX7
36	pepck 2 deficiency	9.6	PEX26, PEX5, PEX7
37	peroxisomal disease	9.6	PEX26, PEX5
38	granulosa cell tumor of the ovary	9.6	PEX26, PEX5, PEX7
39	ritter's disease	9.0	GNPAT, HADHB, MVK, PEX5
40	heimler syndrome 1	8.9	GNPAT, PEX26, PEX5, PEX7, PHYH
41	larynx cancer	8.6	AGPS, GNPAT, PEX26, PEX5, PEX7, PHYH
42	immunodeficiency 41 with lymphoproliferation and autoimmunity	8.2	GNPAT, HADHB, PEX26, PEX5, PEX7, PHYH

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:

⁶⁴ ⁵⁴ (show all 23)

id	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of the teeth⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000164
2	microcephaly⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000252
3	epicanthus⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000286
4	cataract⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000518
5	abnormality of the metaphyses⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000944
6	dry skin⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0000958
7	scoliosis⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0002650
8	short stature⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0004322
9	ichthyosis⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0008064
10	limb undergrowth⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0009826
11	epiphyseal stippling⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0010655
12	abnormal hair quantity⁶⁴	hallmark (90%)		HP:0011362
13	malar flattening⁶⁴	typical (50%)		HP:0000272
14	limitation of joint mobility⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0001376
15	spina bifida occulta⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0003298
16	cognitive impairment⁶⁴	occasional (7.5%)		HP:0100543
17	growth delay⁵⁴		Very frequent (99-80%)
18	alopecia⁵⁴		Occasional (29-5%)
19	sparse body hair⁵⁴		Very frequent (99-80%)
20	abnormality of epiphysis morphology⁵⁴		Very frequent (99-80%)
21	rhizomelia⁵⁴		Very frequent (99-80%)
22	intellectual disability, severe⁵⁴		Occasional (29-5%)
23	flat face⁵⁴		Frequent (79-30%)

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	9.2	HADHB, PEX5, PEX7, PHYH
2	reproductive system	MP:0005389	8.4	AGPS, GNPAT, PEX5, PEX7, PHYH
3	homeostasis/metabolism	MP:0005376	7.7	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	A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (26220973)	BarA... Frengen E.	2015
3	Congenital heart defects common in rhizomelic chondrodysplasia punctata. (26408048)	Duker A.L.... Bober M.B.	2015
4	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
5	Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)	A8im A.... Braverman N.E.	2015
6	Rare Case of Rhizomelic Chondrodysplasia Punctata. (27299065)	Mahale Y.... Chaudhari A.	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	Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)	Roy A.... Chakraborty S.	2013
11	Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)	Huffnagel I.C.... Poll-The B.T.	2013
12	C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)	Salamian A.... Nasr-Esfahani M.H.	2013
13	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
14	An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)	Chatterjee S.... Sinha M.K.	2013
15	The neurology of rhizomelic chondrodysplasia punctata. (24172221)	Bams-Mengerink A.M.... 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	Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)	Kanzawa N.... Kinoshita T.	2012
18	Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)	Chhavi N.... Karthikeyan K.	2012
19	Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100)	Itzkovitz B.... Braverman N.	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	Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)	Sigirci A.... GA1lcan H.	2005
28	Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. (15933890)	Fairbanks T.... Emil S.	2005
29	Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)	Brites P.... Baes M.	2003
30	Natural history of rhizomelic chondrodysplasia punctata. (12687664)	White A.L.... Pauli R.M.	2003
31	Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)	Alkan A.... Sarac K.	2003
32	MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)	Viola A.... Cozzone P.J.	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	Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024)	Braverman N.... Valle D.	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	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
38	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
39	Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)	Brookhyser K.M.... Rimoin D.L.	1999
40	A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. (10083738)	Shimozawa N.... Kondo N.	1999
41	Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)	Hertzberg B.S.... Bowie J.D.	1999
42	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
43	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
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	Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)	Motley A.M.... Distel B.	1997
47	Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)	Mota C.R.... Lima M.R.	1997
48	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
49	Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)	Braverman N.... Valle D.	1997
50	Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)	Barth P.G.... Staalman C.R.	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	438.64	Pathogenic ⁵ DISEASES inferred ¹³ GeneCards inferred via : Disorders, Publications (show sections)
2	PEX7	Peroxisomal Biogenesis Factor 7	98.66	Pathogenic ⁵ 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	72.17	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	8466247, 7530787, 7914249
4	AGPS	Alkylglycerone Phosphate Synthase	70.65	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Disorders, Publications, Summaries, Variants (show sections)	10683770
5	PHYH	Phytanoyl-CoA 2-Hydroxylase	45.11	DISEASES inferred ¹³ Novoseek inferred ⁵⁰ GeneCards inferred via : Publications, Summaries (show sections)	9266377
6	PEX26	Peroxisomal Biogenesis Factor 26	29.54	GeneCards inferred via : Disorders, Summaries (show sections)
7	HADHB	Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit	29.00	Novoseek inferred ⁵⁰ GeneCards inferred via : Publications (show sections)	8059925
8	MVK	Mevalonate Kinase	26.44	Novoseek inferred ⁵⁰ GeneCards inferred via : Publications (show sections)	9647750, 9686383

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
2	PEX7	NM_000288.3(PEX7): c.340-10A> G	SNV	Pathogenic	rs267608255	GRCh37	Chr 6, 137166743: 137166743

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	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
2	Peroxisome³⁴	7.2	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 membrane	GO:0005778	9.8	AGPS, GNPAT, PEX5
2	peroxisomal matrix	GO:0005782	9.3	AGPS, GNPAT, PEX7, PHYH
3	peroxisome	GO:0005777	7.2	AGPS, GNPAT, MVK, PEX26, PEX5, PEX7

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

id	Name	GO ID	Score	Top Affiliating Genes
1	neuron migration	GO:0001764	10.2	PEX5, PEX7
2	peroxisome organization	GO:0007031	10.1	PEX5, PEX7
3	ether lipid biosynthetic process	GO:0008611	9.8	AGPS, GNPAT, PEX7
4	protein import into peroxisome membrane	GO:0045046	9.5	PEX26, PEX5
5	fatty acid beta-oxidation	GO:0006635	9.5	HADHB, PEX5, PEX7
6	protein import into peroxisome matrix	GO:0016558	9.3	PEX26, PEX5, PEX7