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

Summaries for Rhizomelic Chondrodysplasia Punctata

Sources:
⁹Disease Ontology, ²²Genetics Home Reference, ⁶⁴Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

Disease Ontology:⁹ 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 disorders and rhizomelic chondrodysplasia punctata type 1. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (peroxisomal biogenesis factor 7), and among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and stearate biosynthesis I (animals). The compounds 3-oxoacyl-coa and 3-Oxotetradecanoyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Genetics Home Reference:²² 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:⁶⁴ Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Descriptions from OMIM:⁴⁶ 215100,222765,600121

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

Sources:
⁹Disease Ontology, ²²Genetics Home Reference, ¹¹DISEASES, ⁶¹UMLS, ⁴⁴Novoseek, ⁴⁶OMIM, ⁵⁶SNOMED-CT, ³⁴MeSH, ³⁹NCIt
See all sources

Rhizomelic Chondrodysplasia Punctata, Aliases & Descriptions:

Name: Rhizomelic Chondrodysplasia Punctata ⁹ ²² ¹¹

Chondrodysplasia Punctata, Rhizomelic ²² ⁶¹

Chondrodysplasia Punctata Rhizomelic ⁴⁴

Rcdp ²²

Rcp ²²

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases

External Ids:

Disease Ontology⁹ DOID:2580

OMIM⁴⁶ 215100, 222765, 600121

SNOMED-CT⁵⁶ 56692003

MeSH³⁴ D018902

NCIt³⁹ C85047

UMLS⁶¹ C0282529

Related Diseases for Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases in the Rhizomelic Chondrodysplasia Punctata Type 1 family:

rhizomelic chondrodysplasia punctata	Rhizomelic Chondrodysplasia Punctata Type 2
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelic Chondrodysplasia Punctata Spectrum

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

(show all 28)

id	Related Disease	Score	Top Affiliating Genes
1	peroxisome disorders	31.7	PEX7
2	rhizomelic chondrodysplasia punctata type 1	31.5	ACOX1, HADHB, HSD17B4, PEX7, SCP2
3	zellweger syndrome	30.3	CAT, HSD17B4, PIPOX, PEX7, PEX12, PEX13
4	refsum disease	30.2	PIPOX, PEX7, HACL1, GNPAT, CAT, PHYH
5	adrenoleukodystrophy	28.4	CAT, ACOX1, SCP2, HSD17B4, GNPAT, PIPOX
6	chondrodysplasia	11.3
7	rhizomelic chondrodysplasia punctata type 2	10.9
8	rhizomelic chondrodysplasia punctata, type 3	10.8
9	cervicitis	10.5
10	rhizomelic chondrodysplasia punctata spectrum	10.5
11	peroxisome biogenesis disorder 2b	10.4	PEX5
12	cataract	10.4
13	hepatitis	10.4
14	neuronitis	10.4
15	neonatal respiratory failure	10.4
16	peroxisomal disease	10.4
17	respiratory failure	10.4
18	peroxisome biogenesis disorder 9b	10.4
19	peroxisome biogenesis disorder 1a	10.4
20	peroxisomal acyl-coa oxidase deficiency	10.4	ACOX1
21	chondrodysplasia punctata syndrome	10.2	GNPAT, ACAA1
22	mulibrey nanism	10.2	PEX5, PEX7
23	pityriasis versicolor	10.1	CAT
24	d-bifunctional protein deficiency	10.1	HADHB, HSD17B4, ACOX1, SCP2
25	bladder carcinoma	10.1
26	breast cancer	10.1
27	zellweger spectrum	9.7	PEX13, PEX12, PEX5, PEX3, PEX26
28	refsum disease, infantile form	9.1	SLC25A17, PHYH, CAT, HSD17B4, GNPAT, PEX12

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

Symptoms for Rhizomelic Chondrodysplasia Punctata

Sources:
⁴⁶OMIM
See all sources

Clinical features from OMIM:

215100,222765,600121

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Rhizomelic Chondrodysplasia Punctata

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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³²MalaCards
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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

³²

Bone, Brain, Spinal cord, Colon, Skin

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	8.5	PHYH, HADHB, PEX5, PEX13, PEX7, HSD17B4
2	behavior/neurological phenotype	MP:0005386	8.5	PEX3, PEX13, PEX7, HSD17B4, SCP2, PHYH
3	reproductive system phenotype	MP:0005389	8.4	PEX5, PEX3, PEX7, GNPAT, HSD17B4, ACOX1
4	endocrine/exocrine gland phenotype	MP:0005379	8.3	PEX5, PEX3, PEX13, PEX7, GNPAT, HSD17B4
5	growth/size/body phenotype	MP:0005378	7.9	HADHB, PEX5, PEX13, PEX7, GNPAT, HSD17B4
6	homeostasis/metabolism phenotype	MP:0005376	7.6	HADHB, PEX5, PEX3, PEX7, GNPAT, HSD17B4

Publications for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵¹PubMed
See all sources

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 75)

id	Title	Authors	Year
1	Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (24849933)	Noguchi M.... Fujiki Y.	2014
2	An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)	Chatterjee S.... Sinha M.K.	2013
3	Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)	Roy A.... Chakraborty S.	2013
4	Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)	Huffnagel I.C.... Poll-The B.T.	2013
5	The neurology of rhizomelic chondrodysplasia punctata. (24172221)	Bams-Mengerink A.M.... Poll-The B.T.	2013
6	C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)	Salamian A.... Nasr-Esfahani M.H.	2013
7	Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)	Chhavi N.... Karthikeyan K.	2012
8	Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)	Nayak S.S.... Girisha K.M.	2012
9	Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)	Oswald G.... Braverman N.	2011
10	Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)	Tinnion R.J.... Harigopal S.	2011
11	Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)	Zwijnenburg P.J.... Tan-Sindhunata M.B.	2010
12	Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)	Phadke S.R.... Braverman N.	2010
13	Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)	Goh S.	2007
14	Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)	BaA9buA9 M.... Tayyar M.	2005
15	Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)	Sigirci A.... GA1lcan H.	2005
16	Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)	Brites P.... Baes M.	2003
17	Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)	Alkan A.... Sarac K.	2003
18	MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)	Viola A.... Cozzone P.J.	2002
19	Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)	Khanna A.J.... Sponseller P.D.	2001
20	Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)	Sztriha L.... Lestringant G.G.	2000
21	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
22	Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)	Brookhyser K.M.... Rimoin D.L.	1999
23	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
24	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
25	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
26	Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)	Motley A.M.... Distel B.	1997
27	Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)	Mota C.R.... Lima M.R.	1997
28	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
29	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
30	Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)	Hebestreit H.... Marx A.	1996
31	Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)	Sastrowijoto S.H.... Fryns J.P.	1994
32	Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)	Gendall P.W.... Becroft D.M.	1994
33	Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)	Schutgens R.B.... Frumau M.E.	1993
34	Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)	Barr D.G.... Schutgens R.B.	1993
35	Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)	Rizzo W.B.... Moser A.B.	1993
36	Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)	Suzuki Y.... Orii T.	1993
37	Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)	Hughes J.L.... Sillence D.	1992
38	Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)	Wells T.R.... Bostwick F.H.	1992
39	Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)	Gray R.G.... Wanders R.J.	1992
40	Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)	De Craemer D.... Roels F.	1991
41	Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)	Heikoop J.C.... Tager J.M.	1991
42	Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308)	Singh I.... Hashimoto T.	1991
43	Cranial MR imaging in rhizomelic chondrodysplasia punctata. (1902045)	Williams D.W.... Cox T.D.	1991
44	Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)	Wardinsky T.D.... Moser A.	1990
45	Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)	Gray R.G.... Kennedy C.R.	1990
46	Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395)	Balfe A.... Watkins P.A.	1990
47	Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)	Hoefler S.... Moser H.W.	1988
48	Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)	Poulos A.... Usher S.	1988
49	More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)	Goldfischer S.L.	1986
50	Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)	Heymans H.S.... Schutgens R.B.	1985

Genes related to Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Rhizomelic Chondrodysplasia Punctata:

(show all 20)

- Elite gene

id	Symbol	Description	Score	Implication
1	PEX7	peroxisomal biogenesis factor 7	20.67	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
2	AGPS	alkylglycerone phosphate synthase	19.66	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
3	GNPAT	glyceronephosphate O-acyltransferase	18.65	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
4	PHYH	phytanoyl-CoA 2-hydroxylase	17.65	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
5	PEX26	peroxisomal biogenesis factor 26	16.63	GeneCards inferred via : Summaries (show sections)
6	HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	15.58	GeneCards inferred via : Publications, Disorders (show sections)
7	SCP2	sterol carrier protein 2	14.58	GeneCards inferred via : Publications, Disorders (show sections)
8	ACOX1	acyl-CoA oxidase 1, palmitoyl	13.58	GeneCards inferred via : Disorders (show sections)
9	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	12.58	GeneCards inferred via : Disorders (show sections)
10	PEX12	peroxisomal biogenesis factor 12	11.54	GeneCards inferred via : Disorders (show sections)
11	MVK	mevalonate kinase	10.54	GeneCards inferred via : Publications (show sections)
12	PEX5	peroxisomal biogenesis factor 5	9.54	GeneCards inferred via : Publications, Disorders (show sections)
13	PEX13	peroxisomal biogenesis factor 13	8.54	GeneCards inferred via : Disorders (show sections)
14	PEX3	peroxisomal biogenesis factor 3	7.54	GeneCards inferred via : Disorders (show sections)
15	CAT	catalase	6.54	GeneCards inferred via : Publications (show sections)
16	ACAA1	acetyl-CoA acyltransferase 1	5.54	GeneCards inferred via : Publications, Disorders (show sections)
17	PIPOX	pipecolic acid oxidase	4.54	GeneCards inferred via : Disorders (show sections)
18	PMVK	phosphomevalonate kinase	3.54	GeneCards inferred via : Disorders (show sections)
19	SLC25A17	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	2.54	GeneCards inferred via : Publications (show sections)
20	HACL1	2-hydroxyacyl-CoA lyase 1	1.54	GeneCards inferred via : Disorders (show sections)

Products for genes related to Rhizomelic Chondrodysplasia Punctata disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	20	-	20	20
2	Novus Biologicals	19	18	20	-

Variations for Rhizomelic Chondrodysplasia Punctata

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵⁴Reactome, ³⁰KEGG, ⁵⁹Thomson Reuters
See all sources

Pathways related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 12)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Mitochondrial LC-Fatty Acid Beta-Oxidation³⁷ Show member pathways fatty acid beta-oxidation III (unsaturated, odd number)³⁷ Fatty Acid Beta Oxidation³⁷	10.0	SCP2, HADHB
2	stearate biosynthesis I (animals)³⁷ Show member pathways fatty acid beta-oxidation I³⁷ eicosapentaenoate biosynthesis II (metazoa)³⁷ gamma-linolenate biosynthesis II (animals)³⁷ fatty acid activation³⁷	10.0	SCP2, HADHB
3	Synthesis of bile acids and bile salts⁵⁴ Show member pathways Bile acid and bile salt metabolism⁵⁴ Sterols are 12-hydroxylated by CYP8B1⁵⁴ Recycling of bile acids and salts⁵⁴ Primary bile acid biosynthesis³⁰ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol⁵⁴ Synthesis of bile acids and bile salts via 27-hydroxycholesterol⁵⁴ bile acid biosynthesis, neutral pathway³⁷ Synthesis of bile acids and bile salts via 24-hydroxycholesterol⁵⁴	10.0	SCP2, HSD17B4
4	fatty acid alpha-oxidation III³⁷ Show member pathways fatty acid alpha-oxidation II³⁷ phytol degradation³⁷	9.7	PHYH, HACL1
5	Fatty acid metabolism³⁰ Show member pathways mitochondrial L-carnitine shuttle pathway³⁷ Saturated fatty acid biosynthesis⁵⁹ Fatty acid degradation³⁰ Fatty acid biosynthesis³⁰	9.5	HADHB, ACAA1, ACOX1
6	Biosynthesis of unsaturated fatty acids³⁰ Show member pathways oleate biosynthesis II (animals)³⁷ Fatty acid elongation³⁰	9.5	HADHB, ACAA1, ACOX1
7	superpathway of cholesterol biosynthesis³⁷ Show member pathways Cholesterol biosynthesis³⁷ Cholesterol biosynthesis⁵⁴ lanosterol biosynthesis³⁷ Steroid biosynthesis³⁰ zymosterol biosynthesis³⁷ mevalonate pathway I³⁷ epoxysqualene biosynthesis³⁷ cholesterol biosynthesis II (via 24,25-dihydrolanosterol)³⁷ Terpenoid backbone biosynthesis³⁰ superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)³⁷ trans, trans-farnesyl diphosphate biosynthesis³⁷ cholesterol biosynthesis I³⁷ cholesterol biosynthesis III (via desmosterol)³⁷ geranylgeranyldiphosphate biosynthesis³⁷	9.3	MVK, PMVK, HADHB
8	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism⁵⁴ Show member pathways Linoleic acid (LA) metabolism⁵⁴ alpha-linolenic acid (ALA) metabolism⁵⁴	9.3	HSD17B4, SCP2, ACAA1, ACOX1
9	PPAR signaling pathway³⁰ Show member pathways fatty acid beta-oxidation VI (peroxisome)³⁷	9.3	ACOX1, ACAA1, SCP2, HSD17B4
10	Peroxisomal lipid metabolism⁵⁴ Show member pathways Alpha-oxidation of phytanate⁵⁴ Beta-oxidation of pristanoyl-CoA⁵⁴ Beta-oxidation of very long chain fatty acids⁵⁴ Plasmalogen biosynthesis⁵⁴	7.3	AGPS, SLC25A17, PHYH, ACOX1, ACAA1, SCP2
11	Metabolism⁵⁴ Show member pathways Metabolic pathways³⁰ Metabolism of lipids and lipoproteins⁵⁴	5.2	HSD17B4, GNPAT, PMVK, PIPOX, HACL1, HADHB
12	Peroxisome³⁰	3.7	AGPS, PEX3, PEX5, HACL1, PEX13, PEX26

Compounds for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
⁴⁴Novoseek, ²⁵HMDB
See all sources

Compounds related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show top 50) (show all 84)

id	Compound	Score	Top Affiliating Genes
1	3-oxoacyl-coa⁴⁴	10.0	SCP2, GNPAT, ACAA1
2	3-Oxotetradecanoyl-CoA²⁵	10.0	HADHB, ACAA1, HSD17B4
3	3-Oxododecanoyl-CoA²⁵	10.0	HADHB, HSD17B4, ACAA1
4	2-Methylacetoacetyl-CoA²⁵	10.0	ACAA1, HADHB, HSD17B4
5	Tetradecanoyl-CoA²⁵	9.9	ACOX1, HADHB, ACAA1
6	3-Oxodecanoyl-CoA²⁵	9.9	ACAA1, HSD17B4, HADHB
7	3-Oxooctanoyl-CoA²⁵	9.9	HSD17B4, ACAA1, HADHB
8	3-Oxohexanoyl-CoA²⁵	9.9	HSD17B4, ACAA1, HADHB
9	3-Oxohexadecanoyl-CoA²⁵	9.9	HADHB, HSD17B4, ACAA1
10	Tridecanoyl-CoA²⁵	9.9	ACOX1, ACAA1, HSD17B4
11	Acetoacetyl-CoA²⁵	9.9	ACAA1, HSD17B4, HADHB
12	Docosa-4,7,10,13,16-pentaenoyl CoA²⁵	9.8	ACAA1, HADHB
13	Hexanoyl-CoA²⁵	9.7	GNPAT, HADHB, ACOX1, ACAA1
14	Decanoyl-CoA (n-C10:0CoA)²⁵	9.7	ACAA1, HADHB, ACOX1, GNPAT
15	Glutaconyl-CoA²⁵	9.7	ACOX1, GNPAT, ACAA1, HADHB
16	Undecanoyl-CoA²⁵	9.7	HADHB, ACAA1, ACOX1, GNPAT
17	Isobutyryl-CoA²⁵	9.7	ACOX1, ACAA1, GNPAT, HADHB
18	Tetracosanoyl-CoA²⁵	9.7	HADHB, ACOX1, ACAA1, GNPAT
19	Nonanoyl-CoA²⁵	9.7	HADHB, GNPAT, ACAA1, ACOX1
20	Pentanoyl-CoA²⁵	9.7	ACOX1, ACAA1, GNPAT, HADHB
21	trans-Octadec-2-enoyl-CoA²⁵	9.7	HADHB, ACOX1, ACAA1, GNPAT
22	Isovaleryl-CoA²⁵	9.7	ACOX1, ACAA1, GNPAT, HADHB
23	Lauroyl-CoA²⁵	9.7	ACOX1, ACAA1, GNPAT, HADHB
24	2-Methylhexanoyl-CoA²⁵	9.7	HADHB, GNPAT, ACAA1, ACOX1
25	Butyryl-CoA²⁵	9.7	ACAA1, GNPAT, HADHB, ACOX1
26	2-methylbutyryl-coa⁴⁴ ²⁵	10.7	HADHB, GNPAT, ACAA1, ACOX1
27	3Z-dodecenoyl-CoA²⁵	9.7	GNPAT, ACAA1, ACOX1, HADHB
28	octanoyl-coa⁴⁴ ²⁵	10.6	GNPAT, ACOX1, ACAA1, HADHB
29	2-hydroxyphytanoyl-coa⁴⁴ ²⁵	10.6	HACL1, PHYH
30	Eicosanoyl-CoA²⁵	9.6	ACAA1, ACOX1, GNPAT, HADHB
31	Pristanoyl-CoA²⁵	9.6	ACAA1, ACOX1, GNPAT, HADHB
32	(2E)-Dodecenoyl-CoA²⁵	9.6	ACAA1, GNPAT, HADHB, ACOX1
33	(2E)-Decenoyl-CoA²⁵	9.6	HADHB, GNPAT, ACAA1, ACOX1
34	trans-2-Hexenoyl-CoA²⁵	9.6	ACOX1, HADHB, GNPAT, ACAA1
35	Acrylyl-CoA²⁵	9.6	ACOX1, HADHB, GNPAT, ACAA1
36	(2E)-Octenoyl-CoA²⁵	9.6	HADHB, GNPAT, ACAA1, ACOX1
37	(2E)-Tetradecenoyl-CoA²⁵	9.5	ACOX1, ACAA1, HADHB, GNPAT
38	Crotonoyl-CoA²⁵	9.5	GNPAT, HADHB, ACAA1, ACOX1
39	Heptanoyl-CoA²⁵	9.5	GNPAT, HADHB, HSD17B4, ACAA1, ACOX1
40	acetyl-coa⁴⁴ ²⁵	10.5	HADHB, SCP2, ACOX1, GNPAT, ACAA1
41	3a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA²⁵	9.5	HADHB, ACAA1
42	(2E)-Hexadecenoyl-CoA²⁵	9.5	GNPAT, HADHB, ACAA1, ACOX1
43	stearoyl-coa⁴⁴ ²⁵	10.4	HADHB, GNPAT, ACAA1, ACOX1
44	Propionyl-CoA²⁵	9.4	ACOX1, HADHB, GNPAT, ACAA1
45	Palmityl-CoA²⁵	9.3	HADHB, GNPAT, ACOX1, ACAA1
46	fatty acid⁴⁴	9.1	HADHB, PEX7, GNPAT, HSD17B4, SCP2, PHYH
47	sterol⁴⁴	9.0	PMVK, HADHB, HSD17B4, MVK, ACOX1, SCP2
48	phytanic acid⁴⁴	8.9	PHYH, HACL1, GNPAT, SCP2, ACAA1, CAT
49	lipid⁴⁴	8.7	HADHB, PEX5, MVK, ACOX1, SCP2, PHYH
50	acyl-coa⁴⁴	8.6	ACOX1, SCP2, HSD17B4, GNPAT, PEX5, SLC25A17

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁷Gene Ontology
See all sources

Cellular components related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	integral component of peroxisomal membrane	GO:005779	8.3	PEX3, PEX13, PEX26, PEX12, SLC25A17
2	mitochondrion	GO:005739	7.7	AGPS, PEX5, PHYH, ACOX1, SCP2, HSD17B4
3	intracellular membrane-bounded organelle	GO:043231	7.4	HSD17B4, SCP2, ACAA1, CAT, SLC25A17, AGPS
4	peroxisomal matrix	GO:005782	7.3	PEX5, PEX7, GNPAT, HSD17B4, SCP2, ACAA1
5	peroxisomal membrane	GO:005778	7.1	PEX12, GNPAT, HSD17B4, ACOX1, CAT, SLC25A17
6	peroxisome	GO:005777	3.7	HACL1, PEX5, PEX3, PEX13, PEX26, AGPS

Biological processes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 21)

id	Name	GO ID	Score	Top Affiliating Genes
1	ether lipid biosynthetic process	GO:008611	10.1	AGPS, GNPAT, PEX7
2	protein import into peroxisome matrix, docking	GO:016560	10.0	PEX13, PEX5
3	protein targeting to peroxisome	GO:006625	9.9	PEX5, PEX12
4	cerebral cortex cell migration	GO:021795	9.9	PEX13, PEX5
5	bile acid biosynthetic process	GO:006699	9.9	HSD17B4, SCP2
6	protein import into peroxisome membrane	GO:045046	9.8	PEX5, PEX3, PEX26
7	isopentenyl diphosphate biosynthetic process, mevalonate pathway	GO:019287	9.8	MVK, PMVK
8	protein import into peroxisome matrix	GO:016558	9.7	PEX7, PEX12, PEX26, PEX5
9	bile acid metabolic process	GO:008206	9.7	HSD17B4, SCP2, ACAA1
10	peroxisome organization	GO:007031	9.6	PEX3, PEX12, PEX7, SCP2
11	neuron migration	GO:001764	9.6	PEX7, PEX13, PEX5
12	unsaturated fatty acid metabolic process	GO:033559	9.6	ACAA1, SCP2, HSD17B4, ACOX1
13	alpha-linolenic acid metabolic process	GO:036109	9.6	ACOX1, ACAA1, SCP2, HSD17B4
14	cholesterol biosynthetic process	GO:006695	9.6	MVK, PMVK
15	fatty acid beta-oxidation using acyl-CoA oxidase	GO:033540	9.5	HSD17B4, ACOX1, ACAA1, SCP2
16	protein tetramerization	GO:051262	9.4	CAT, PEX5
17	very long-chain fatty acid metabolic process	GO:000038	9.4	PEX5, HSD17B4, ACAA1, ACOX1
18	fatty acid alpha-oxidation	GO:001561	8.9	HACL1, PEX13, PHYH, SLC25A17
19	fatty acid beta-oxidation	GO:006635	8.5	HADHB, PEX5, PEX7, HSD17B4, ACAA1, SLC25A17
20	cellular lipid metabolic process	GO:044255	7.4	AGPS, HADHB, HACL1, GNPAT, HSD17B4, SCP2
21	small molecule metabolic process	GO:044281	6.1	HSD17B4, GNPAT, PMVK, HACL1, HADHB, SCP2

Molecular functions related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	long-chain-enoyl-CoA hydratase activity	GO:016508	10.2	HADHB, HSD17B4
2	FAD binding	GO:071949	10.1	AGPS, ACOX1
3	3-hydroxyacyl-CoA dehydrogenase activity	GO:003857	10.1	HSD17B4, HADHB
4	palmitoyl-CoA oxidase activity	GO:016401	9.9	ACAA1, ACOX1
5	acetyl-CoA C-acyltransferase activity	GO:003988	9.9	HADHB, ACAA1
6	fatty-acyl-CoA binding	GO:000062	9.9	SCP2, HADHB
7	cofactor binding	GO:048037	9.7	HACL1, PHYH
8	protein C-terminus binding	GO:008022	9.4	PEX5, PEX26, PEX12
9	receptor binding	GO:005102	8.3	CAT, HACL1, PIPOX, GNPAT, HSD17B4, SCP2
10	protein binding	GO:005515	7.0	PEX5, PEX3, PEX13, PEX26, PEX12, SCP2