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

Summaries for Rhizomelic Chondrodysplasia Punctata

Sources:
⁸Disease Ontology, ²¹Genetics Home Reference, ⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
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Disease Ontology:⁸ 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: Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata type 1 and zellweger syndrome. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (peroxisomal biogenesis factor 7), and among its related pathways are Plasmalogen biosynthesis and Biosynthesis of unsaturated fatty acids. The compounds lignoceric acid and (3S)-3-Hydroxyadipyl-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 reproductive system.

Genetics Home Reference:²¹ 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:⁶³ Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Description from OMIM:⁴⁶ 215100,222765,600121

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

Sources:
⁸Disease Ontology, ²¹Genetics Home Reference, ¹⁰DISEASES, ⁶⁰UMLS, ⁴⁴Novoseek, ⁴⁶OMIM, ³⁹NCIt, ³⁴MeSH, ⁵⁶SNOMED-CT
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Aliases & Descriptions:

rhizomelic chondrodysplasia punctata ⁸ ²¹ ¹⁰

chondrodysplasia punctata, rhizomelic ²¹ ⁶⁰

chondrodysplasia punctata rhizomelic ⁴⁴

rcdp ²¹

rcp ²¹

External Ids:

Disease Ontology⁸ DOID:2580

OMIM⁴⁶ 215100, 222765, 600121

SNOMED-CT⁵⁶ 56692003

NCIt³⁹ C85047

MeSH³⁴ D018902

UMLS⁶⁰ C0282529

Related Diseases for Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
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Diseases in the Rhizomelic Chondrodysplasia Punctata Type 1 family:

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

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

(show all 33)

id	Related Disease	Score	Top Affiliating Genes
1	rhizomelic chondrodysplasia punctata type 1	31.4	HSD17B4, HADHB, SCP2, ACOX1, PEX7
2	zellweger syndrome	30.9	PEX12, PEX2, PEX5, PEX10, PEX16, PEX26
3	refsum disease	30.6	GNPAT, PHYH, PIPOX, PEX7
4	cataract	30.4	MVK
5	adrenoleukodystrophy	30.4	HSD17B4, GNPAT, HADHB, SCP2, PEX26, PEX10
6	rhizomelic chondrodysplasia punctata, type 3	10.8
7	rhizomelic chondrodysplasia punctata type 2	10.8
8	cervicitis	10.5
9	peroxisomal disease	10.5
10	rhizomelic chondrodysplasia punctata spectrum	10.5
11	non-rhizomelic chondrodysplasia punctata	10.5
12	neonatal respiratory failure	10.3
13	neuronitis	10.3
14	peroxisomal acyl-coa oxidase deficiency	10.3
15	hepatitis	10.3
16	respiratory failure	10.3
17	x-linked disease	10.3
18	peroxisome biogenesis disorder 9b	10.3
19	peroxisome biogenesis disorder 1a	10.3
20	bladder carcinoma	10.0
21	breast cancer	10.0
22	children's interstitial lung disease	10.0	EBP
23	chondrodysplasia punctata 2 x-linked dominant	10.0	EBP, GNPAT
24	refsum disease, infantile form	10.0	PEX2, PEX26
25	mevalonic aciduria	10.0	MVK
26	chondrodysplasia punctata syndrome	10.0	ACAA1, EBP, GNPAT
27	d-bifunctional protein deficiency	10.0	ACOX1, SCP2, HADHB, HSD17B4
28	mulibrey nanism	10.0	PEX5, PEX7
29	neonatal adrenoleukodystrophy	10.0	PEX10, PEX5, SCP2
30	beta-ketothiolase deficiency	10.0	ACAA1
31	zellweger spectrum	10.0	PEX12, PEX5, PEX10, PEX16, PEX26
32	infantile refsum disease	10.0	PEX12, PEX2, PEX10, PEX26, SLC25A17, PHYH
33	peroxisome disorders	10.0	HSD17B4, GNPAT, HADHB, PHYH, AGPS, SLC25A17

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

Clinical Features for Rhizomelic Chondrodysplasia Punctata

Sources:
⁴⁶OMIM
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Clinical features from OMIM:

215100,222765,600121

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rhizomelic Chondrodysplasia Punctata

Drug clinical trials:

Search ClinicalTrials for Rhizomelic Chondrodysplasia Punctata

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Search CenterWatch 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	9.7	PEX7, HSD17B4, HADHB, SCP2, PHYH, ACOX1
2	reproductive system phenotype	MP:0005389	9.5	GNPAT, PHYH, AGPS, ACOX1, PEX7, PEX5
3	endocrine/exocrine gland phenotype	MP:0005379	9.1	HSD17B4, GNPAT, AGPS, ACOX1, PEX2, PEX7
4	growth/size phenotype	MP:0005378	9.0	HSD17B4, GNPAT, HADHB, SCP2, PHYH, EBP
5	homeostasis/metabolism phenotype	MP:0005376	8.9	SCP2, HADHB, GNPAT, HSD17B4, PHYH, AGPS

Publications for Rhizomelic Chondrodysplasia Punctata

Sources:
⁵⁰PubMed
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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 78)

id	Title	Authors	Year
1	The neurology of rhizomelic chondrodysplasia punctata. (24172221)	Bams-Mengerink A.M.... Poll-The B.T.	2013
2	Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)	Chhavi N.... Karthikeyan K.	2012
3	Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)	Kanzawa N.... Kinoshita T.	2012
4	Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100)	Itzkovitz B.... Braverman N.	2012
5	Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)	Tinnion R.J.... Harigopal S.	2011
6	Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)	Phadke S.R.... Braverman N.	2010
7	Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)	Goh S.	2007
8	MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. (16567694)	Bams-Mengerink A.M.... Poll-The B.T.	2006
9	Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)	BaA9buA9 M.... Tayyar M.	2005
10	Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)	Sigirci A.... GA1lcan H.	2005
11	Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. (15933890)	Fairbanks T.... Emil S.	2005
12	Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)	Brites P.... Baes M.	2003
13	Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)	Alkan A.... Sarac K.	2003
14	Natural history of rhizomelic chondrodysplasia punctata. (12687664)	White A.L.... Pauli R.M.	2003
15	MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)	Viola A.... Cozzone P.J.	2002
16	Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024)	Braverman N.... Valle D.	2002
17	Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)	Khanna A.J.... Sponseller P.D.	2001
18	Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)	Sztriha L.... Lestringant G.G.	2000
19	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
20	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
21	Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)	Hertzberg B.S.... Bowie J.D.	1999
22	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
23	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
24	Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)	Motley A.M.... Distel B.	1997
25	Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)	Braverman N.... Valle D.	1997
26	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
27	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
28	Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)	Hebestreit H.... Marx A.	1996
29	Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group. (8611652)	Motley A.M.... Wanders R.J.	1996
30	Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)	Sastrowijoto S.H.... Fryns J.P.	1994
31	Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)	Gendall P.W.... Becroft D.M.	1994
32	Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata. (8159377)	Sherer D.M.... Metlay L.A.	1994
33	Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)	Barr D.G.... Schutgens R.B.	1993
34	Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)	Suzuki Y.... Orii T.	1993
35	Rhizomelic Chondrodysplasia Punctata Type 1 (20301447)	Pagon R.A.... Stephens K.	1993
36	Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)	Wells T.R.... Bostwick F.H.	1992
37	Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)	Gray R.G.... Wanders R.J.	1992
38	Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study. (1618493)	Heikoop J.C.... Tager J.M.	1992
39	Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (1347505)	Heikoop J.C.... Tager J.M.	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	Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. (1773541)	Castillo-Taucher S.... Geldres V.	1991
43	Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. (1955304)	Lenti C.... Sangermani R.	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	Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata. (2246735)	Eustis H.S.... Ginsberg H.G.	1990
46	Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (2365812)	Heikoop J.C.... Tager J.M.	1990
47	Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)	Hoefler S.... Moser H.W.	1988
48	Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. (3438058)	Oorthuys J.W.... Bleeker-Wagemakers E.M.	1987
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:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Rhizomelic Chondrodysplasia Punctata:

(show all 33)

id	Symbol	Description	Score	Implication
1	PEX7	peroxisomal biogenesis factor 7	20.40	GeneCards inferred : Publications, Disorders, Orthologs, Summaries (show sections)
2	AGPS	alkylglycerone phosphate synthase	19.79	GeneCards inferred : Publications, Disorders, Summaries (show sections)
3	GNPAT	glyceronephosphate O-acyltransferase	19.18	GeneCards inferred : Publications, Disorders, Summaries (show sections)
4	PHYH	phytanoyl-CoA 2-hydroxylase	18.57	GeneCards inferred : Publications, Disorders, Summaries (show sections)
5	PEX26	peroxisomal biogenesis factor 26	17.96	GeneCards inferred : Disorders, Summaries (show sections)
6	HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	17.32	GeneCards inferred : Publications, Disorders (show sections)
7	ACOX1	acyl-CoA oxidase 1, palmitoyl	16.71	GeneCards inferred : Disorders (show sections)
8	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	16.11	GeneCards inferred : Disorders (show sections)
9	SCP2	sterol carrier protein 2	15.50	GeneCards inferred : Publications, Disorders (show sections)
10	EBP	emopamil binding protein (sterol isomerase)	14.87	GeneCards inferred : Disorders (show sections)
11	MVK	mevalonate kinase	14.27	GeneCards inferred : Publications, Disorders (show sections)
12	PEX16	peroxisomal biogenesis factor 16	13.66	GeneCards inferred : Disorders (show sections)
13	PEX12	peroxisomal biogenesis factor 12	13.05	GeneCards inferred : Disorders (show sections)
14	PEX10	peroxisomal biogenesis factor 10	12.45	GeneCards inferred : Disorders (show sections)
15	PEX2	peroxisomal biogenesis factor 2	11.84	GeneCards inferred : Disorders (show sections)
16	PEX5	peroxisomal biogenesis factor 5	11.24	GeneCards inferred : Publications, Disorders (show sections)
17	ACAA1	acetyl-CoA acyltransferase 1	10.63	GeneCards inferred : Publications, Disorders (show sections)
18	SLC25A17	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	10.02	GeneCards inferred : Publications, Disorders (show sections)
19	PIPOX	pipecolic acid oxidase	9.42	GeneCards inferred : Disorders (show sections)
20	PMVK	phosphomevalonate kinase	8.81	GeneCards inferred : Disorders (show sections)
21	AGXT	alanine-glyoxylate aminotransferase	8.21	GeneCards inferred : Disorders (show sections)
22	PEX13	peroxisomal biogenesis factor 13	7.60	GeneCards inferred : Disorders (show sections)
23	PEX1	peroxisomal biogenesis factor 1	6.99	GeneCards inferred : Disorders (show sections)
24	PEX19	peroxisomal biogenesis factor 19	6.39	GeneCards inferred : Disorders (show sections)
25	ACAA2	acetyl-CoA acyltransferase 2	5.78	GeneCards inferred : Disorders (show sections)
26	PEX6	peroxisomal biogenesis factor 6	5.18	GeneCards inferred : Disorders (show sections)
27	PEX3	peroxisomal biogenesis factor 3	4.57	GeneCards inferred : Disorders (show sections)
28	HACL1	2-hydroxyacyl-CoA lyase 1	3.96	GeneCards inferred : Disorders (show sections)
29	CCDC62	coiled-coil domain containing 62	3.36	GeneCards inferred : Disorders (show sections)
30	SLC27A2	solute carrier family 27 (fatty acid transporter), member 2	2.75	GeneCards inferred : Disorders (show sections)
31	PEX14	peroxisomal biogenesis factor 14	2.14	GeneCards inferred : Disorders (show sections)
32	PHEX	phosphate regulating endopeptidase homolog, X-linked	1.54	GeneCards inferred : Disorders (show sections)
33	CAT	catalase	0.93	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Rhizomelic Chondrodysplasia Punctata disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	33	33	32
2	LSBio	-	-	33

Genetic Variations for Rhizomelic Chondrodysplasia Punctata

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹BioGPS, ¹⁵Gene 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:
⁵³Reactome, ²⁹KEGG, ³⁷NCBI BioSystems Database
See all sources

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

(show all 11)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Plasmalogen biosynthesis⁵³	10.2	AGPS, GNPAT
2	Biosynthesis of unsaturated fatty acids²⁹ Hide members Fatty acid elongation²⁹	10.0	ACOX1, ACAA1, HADHB
3	PPAR signaling pathway²⁹	10.0	ACOX1, ACAA1, SCP2
4	superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)³⁷ Hide members mevalonate pathway I³⁷ Terpenoid backbone biosynthesis²⁹	9.9	PMVK, MVK, HADHB
5	Fatty Acid Beta Oxidation³⁷ Hide members Fatty acid degradation²⁹ Mitochondrial LC-Fatty Acid Beta-Oxidation³⁷	9.8	ACOX1, ACAA1, SCP2, HADHB
6	alpha-linolenic (omega3) and linoleic (omega6) acid metabolism⁵³ Hide members alpha-linolenic acid (ALA) metabolism⁵³ Beta-oxidation of very long chain fatty acids⁵³	9.8	HSD17B4, SCP2, ACAA1, ACOX1
7	cholesterol biosynthesis III (via desmosterol)³⁷ Hide members Cholesterol biosynthesis⁵³ Steroid biosynthesis²⁹ cholesterol biosynthesis II (via 24,25-dihydrolanosterol)³⁷ cholesterol biosynthesis I³⁷ superpathway of cholesterol biosynthesis³⁷ Cholesterol biosynthesis³⁷	9.8	PMVK, MVK, HADHB, EBP
8	fatty acid activation³⁷ Hide members fatty acid beta-oxidation VI (peroxisome)³⁷ fatty acid beta-oxidation I³⁷	9.7	HSD17B4, HADHB, SCP2, ACAA1, ACOX1
9	Peroxisomal lipid metabolism⁵³ Hide members Beta-oxidation of pristanoyl-CoA⁵³	9.2	ACOX1, ACAA1, SLC25A17, AGPS, PHYH, SCP2
10	Metabolism⁵³ Hide members Metabolic pathways²⁹ Metabolism of lipids and lipoproteins⁵³	8.8	PMVK, HSD17B4, GNPAT, MVK, HADHB, SCP2
11	Peroxisome²⁹	7.4	PEX26, GNPAT, HSD17B4, PMVK, MVK, SCP2

Compounds for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
⁴⁴Novoseek, ²⁴HMDB, ²⁸IUPHAR, ¹¹DrugBank
See all sources

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

(show all 27)

id	Compound	Score	Top Affiliating Genes
1	lignoceric acid⁴⁴	10.4	GNPAT, HADHB
2	(3S)-3-Hydroxyadipyl-CoA²⁴	10.4	HSD17B4, HADHB
3	benzoyl-coa⁴⁴ ²⁴	11.3	HADHB, ACAA1
4	dhap⁴⁴	10.3	AGPS, GNPAT
5	3-oxoacyl-coa⁴⁴	10.3	ACAA1, SCP2, GNPAT
6	mevalonate pyrophosphate⁴⁴	10.3	PMVK, MVK
7	phosphomevalonate⁴⁴	10.3	MVK, PMVK
8	acetoacetyl coa⁴⁴	10.2	PMVK, HADHB
9	phytanic acid⁴⁴	10.2	GNPAT, SCP2, PHYH, ACAA1
10	2-methylbutyryl-coa⁴⁴ ²⁴	11.2	GNPAT, HADHB, ACAA1, ACOX1
11	pristanic acid⁴⁴ ²⁸ ²⁴	12.2	SCP2, GNPAT
12	octanoyl-coa⁴⁴ ²⁴	11.2	ACOX1, ACAA1, HADHB, GNPAT
13	(2E)-Octenoyl-CoA²⁴	10.2	ACAA1, HADHB, GNPAT, ACOX1
14	(2E)-Tetradecenoyl-CoA²⁴	10.2	ACOX1, ACAA1, HADHB, GNPAT
15	(2E)-Dodecenoyl-CoA²⁴	10.2	GNPAT, ACOX1, ACAA1, HADHB
16	(2E)-Decenoyl-CoA²⁴	10.2	ACOX1, ACAA1, HADHB, GNPAT
17	(2E)-Hexadecenoyl-CoA²⁴	10.1	GNPAT, HADHB, ACAA1, ACOX1
18	stearoyl-coa⁴⁴ ²⁴	11.1	GNPAT, HADHB, ACAA1, ACOX1
19	3-methylcrotonyl-coa⁴⁴ ²⁴	11.1	ACAA1, HADHB
20	Coenzyme A¹¹ ²⁴	11.1	GNPAT, HADHB, ACAA1
21	lanosterol⁴⁴ ¹¹	11.1	EBP, SCP2
22	acetyl-coa⁴⁴ ²⁴	11.0	GNPAT, HADHB, SCP2, ACAA1, ACOX1
23	isopentenyl diphosphate⁴⁴ ²⁸	10.8	MVK, PMVK
24	fatty acid⁴⁴	9.8	HSD17B4, GNPAT, HADHB, SCP2, PHYH, AGPS
25	acyl-coa⁴⁴	9.7	PEX5, HSD17B4, GNPAT, HADHB, SCP2, SLC25A17
26	sterol⁴⁴	9.7	PMVK, HSD17B4, MVK, HADHB, SCP2, EBP
27	lipid⁴⁴	9.5	GNPAT, MVK, HADHB, SCP2, PHYH, ACOX1

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
¹⁶Gene Ontology
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Cellular components related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intracellular membrane-bounded organelle	GO:043231	9.8	ACAA1, AGPS, SCP2, HSD17B4
2	integral to peroxisomal membrane	GO:005779	9.3	SLC25A17, PEX12, PEX2, PEX10, PEX16, PEX26
3	peroxisomal matrix	GO:005782	9.2	HSD17B4, PEX5, PEX7, ACOX1, ACAA1, AGPS
4	mitochondrion	GO:005739	9.0	HSD17B4, GNPAT, HADHB, SCP2, PHYH, AGPS
5	peroxisomal membrane	GO:005778	8.8	PEX5, PEX2, PEX12, ACOX1, SLC25A17, AGPS
6	peroxisome	GO:005777	7.6	PEX26, PEX16, PEX10, PEX5, PEX7, PEX12

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

(show all 18)

id	Name	GO ID	Score	Top Affiliating Genes
1	ether lipid biosynthetic process	GO:008611	10.3	PEX7, AGPS, GNPAT
2	protein import into peroxisome membrane	GO:045046	10.1	PEX5, PEX16, PEX26
3	isopentenyl diphosphate biosynthetic process, mevalonate pathway	GO:019287	10.1	MVK, PMVK
4	bile acid biosynthetic process	GO:006699	10.1	HSD17B4, SCP2, PEX2
5	protein targeting to peroxisome	GO:006625	10.1	PEX16, PEX5, PEX12
6	unsaturated fatty acid metabolic process	GO:033559	10.1	HSD17B4, SCP2, ACAA1, ACOX1
7	alpha-linolenic acid metabolic process	GO:036109	10.1	ACOX1, ACAA1, SCP2, HSD17B4
8	fatty acid beta-oxidation using acyl-CoA oxidase	GO:033540	10.0	ACOX1, ACAA1, SCP2, HSD17B4
9	neuron migration	GO:001764	10.0	PEX5, PEX7, PEX2
10	cholesterol biosynthetic process	GO:006695	9.9	PMVK, MVK, EBP
11	bile acid metabolic process	GO:008206	9.9	ACAA1, SCP2, HSD17B4
12	very long-chain fatty acid metabolic process	GO:000038	9.9	HSD17B4, ACAA1, ACOX1, PEX2, PEX5
13	fatty acid alpha-oxidation	GO:001561	9.8	SLC25A17, PHYH
14	peroxisome organization	GO:007031	9.8	SCP2, PEX12, PEX2, PEX7, PEX10, PEX16
15	protein import into peroxisome matrix	GO:016558	9.6	PEX26, PEX12, PEX2, PEX7, PEX5, PEX10
16	fatty acid beta-oxidation	GO:006635	9.6	PEX5, PEX7, PEX2, ACAA1, SLC25A17, HADHB
17	cellular lipid metabolic process	GO:044255	9.4	HSD17B4, GNPAT, ACOX1, ACAA1, SLC25A17, AGPS
18	small molecule metabolic process	GO:044281	8.8	PMVK, HSD17B4, GNPAT, MVK, HADHB, SCP2

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

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	long-chain-enoyl-CoA hydratase activity	GO:016508	10.3	HSD17B4, HADHB
2	palmitoyl-CoA oxidase activity	GO:016401	10.2	ACAA1, ACOX1
3	fatty-acyl-CoA binding	GO:000062	10.2	SCP2, HADHB
4	acetyl-CoA C-acyltransferase activity	GO:003988	10.1	HADHB, ACAA1
5	3-hydroxyacyl-CoA dehydrogenase activity	GO:003857	10.1	HADHB, HSD17B4
6	FAD binding	GO:071949	9.9	ACOX1, AGPS
7	receptor binding	GO:005102	9.8	HSD17B4, GNPAT, SCP2, PIPOX, ACOX1
8	protein C-terminus binding	GO:008022	9.8	PEX26, PEX16, PEX10, PEX5, PEX12