MCID: RHZ001
MIFTS: 54

Rhizomelic Chondrodysplasia Punctata malady

Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Summaries for Rhizomelic Chondrodysplasia Punctata

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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 chondrodysplasia punctata and rhizomelic chondrodysplasia punctata, type 1, and has symptoms including abnormality of the teeth, microcephaly and epicanthus. 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 skin, and related mouse phenotypes are liver/biliary system and behavior/neurological.

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...

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

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Sources:
9Disease Ontology, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Rhizomelic Chondrodysplasia Punctata, Aliases & Descriptions:

Name: Rhizomelic Chondrodysplasia Punctata 9 21 11 47
Chondrodysplasia Punctata, Rhizomelic 21 60
Rcdp 21 47
 
Chondrodysplasia Punctata Rhizomelic 43
Rcp 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:2580
MeSH33 D018902
NCIt38 C85047
Orphanet47 177
SNOMED-CT55 56692003
MESH via Orphanet34 D018902
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet61 C0282529

Related Diseases for Rhizomelic Chondrodysplasia Punctata

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Diseases in the Rhizomelic Chondrodysplasia Punctata family:

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

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

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata32.3GNPAT, ACAA1
2rhizomelic chondrodysplasia punctata, type 131.6ACOX1, HADHB, HSD17B4, PEX7, SCP2
3zellweger syndrome30.3CAT, HSD17B4, PIPOX, PEX7, PEX12, PEX13
4peroxisome disorders30.2HADHB, AGPS, SLC25A17, PHYH, CAT, HSD17B4
5refsum disease30.2PIPOX, PEX7, HACL1, GNPAT, CAT, PHYH
6adrenoleukodystrophy28.4CAT, ACOX1, SCP2, HSD17B4, GNPAT, PIPOX
7chondrodysplasia11.3
8rhizomelic chondrodysplasia punctata, type 310.9
9chondrodysplasia punctata, rhizomelic, type 210.8
10rhizomelic chondrodysplasia punctata spectrum10.6
11cervicitis10.5
12peroxisomal disease10.4PEX7
13peroxisomal acyl-coa oxidase deficiency10.4ACOX1
14peroxisome biogenesis disorder 2b10.4PEX5
15peroxisome biogenesis disorder 9b10.4
16peroxisome biogenesis disorder 1a10.4
17peroxisomal fatty acyl-coa reductase 1 disorder10.4
18cataract10.4
19hepatitis10.4
20neuronitis10.4
21neonatal respiratory failure10.4
22respiratory failure10.4
23mulibrey nanism10.2PEX5, PEX7
24nutritional deficiency disease10.1MVK, PMVK
25d-bifunctional protein deficiency10.1HADHB, HSD17B4, ACOX1, SCP2
26pityriasis versicolor10.1CAT
27breast cancer10.1
28neonatal adrenoleukodystrophy10.0PEX5, SCP2, CAT
29zellweger spectrum9.7PEX13, PEX12, PEX5, PEX3, PEX26
30peroxisome biogenesis disorder 1b9.1SLC25A17, PHYH, CAT, HSD17B4, GNPAT, PEX12

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



Diseases related to rhizomelic chondrodysplasia punctata

Symptoms for Rhizomelic Chondrodysplasia Punctata

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Symptoms:

 47 (show all 20)
  • microcephaly
  • cataract/lens opacification
  • epicanthic folds
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • scoliosis
  • rhizomelic micromelia
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • decreased body hair/axillar/pubic hairlessness
  • metaphyseal anomaly
  • epiphyseal anomaly
  • punctate epiphyses/epiphysis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • flat face
  • spina bifida occulta
  • restricted joint mobility/joint stiffness/ankylosis
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

(show all 17)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 microcephaly hallmark (90%) HP:0000252
3 epicanthus hallmark (90%) HP:0000286
4 cataract hallmark (90%) HP:0000518
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 dry skin hallmark (90%) HP:0000958
7 scoliosis hallmark (90%) HP:0002650
8 short stature hallmark (90%) HP:0004322
9 ichthyosis hallmark (90%) HP:0008064
10 limb undergrowth hallmark (90%) HP:0009826
11 epiphyseal stippling hallmark (90%) HP:0010655
12 abnormal hair quantity hallmark (90%) HP:0011362
13 malar flattening typical (50%) HP:0000272
14 limitation of joint mobility typical (50%) HP:0001376
15 spina bifida occulta typical (50%) HP:0003298
16 abnormal hair quantity occasional (7.5%) HP:0011362
17 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

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Drug clinical trials:

Search ClinicalTrials for Rhizomelic Chondrodysplasia Punctata

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

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Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

31
Bone, Brain, Skin, Eye, Spinal cord, Colon

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5PHYH, HADHB, PEX5, PEX13, PEX7, HSD17B4
2MP:00053868.5PEX3, PEX13, PEX7, HSD17B4, SCP2, PHYH
3MP:00053898.4PEX5, PEX3, PEX7, GNPAT, HSD17B4, ACOX1
4MP:00053798.3PEX5, PEX3, PEX13, PEX7, GNPAT, HSD17B4
5MP:00053787.9HADHB, PEX5, PEX13, PEX7, GNPAT, HSD17B4
6MP:00053767.6HADHB, PEX5, PEX3, PEX7, GNPAT, HSD17B4

Publications for Rhizomelic Chondrodysplasia Punctata

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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)
2015
2
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. (25432520)
2015
3
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (24849933)
2014
4
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
5
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
6
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
7
The neurology of rhizomelic chondrodysplasia punctata. (24172221)
2013
8
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)
2013
9
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
10
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
11
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
12
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)
2010
13
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)
2010
14
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
15
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
16
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
17
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
18
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
19
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
20
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)
2001
21
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)
2000
22
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
23
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
24
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
25
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
26
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
27
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)
1997
28
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)
1997
29
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
30
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
31
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
32
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
33
Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)
1994
34
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)
1993
35
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)
1993
36
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
37
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)
1993
38
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
39
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
40
Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)
1992
41
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
42
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
1991
43
Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308)
1991
44
Cranial MR imaging in rhizomelic chondrodysplasia punctata. (1902045)
1991
45
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)
1990
46
Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)
1990
47
Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)
1988
48
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)
1988
49
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
50
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985

Variations for Rhizomelic Chondrodysplasia Punctata

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Clinvar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1GNPATNM_014236.3(GNPAT): c.1556A> G (p.Asp519Gly)single nucleotide variantPathogenicrs11558492GRCh37Chr 1, 231408091: 231408091
2GNPATGNPAT, IVS9, T-G, -3single nucleotide variantPathogenic
3GNPATGNPAT, 2-BP DEL, 1429ATdeletionPathogenic
4GNPATGNPAT, IVS14, G-A, +5single nucleotide variantPathogenic
5AGPSNM_003659.3(AGPS): c.1703C> T (p.Thr568Met)single nucleotide variantPathogenicrs387907214GRCh37Chr 2, 178386002: 178386002
6PEX7NM_000288.3(PEX7): c.854A> G (p.His285Arg)single nucleotide variantPathogenicrs62653611GRCh37Chr 6, 137219330: 137219330
7AGPSNM_003659.3(AGPS): c.1256G> A (p.Arg419His)single nucleotide variantPathogenicrs121434411GRCh37Chr 2, 178357898: 178357898
8AGPSNM_003659.3(AGPS): c.926C> T (p.Thr309Ile)single nucleotide variantPathogenicrs121434412GRCh37Chr 2, 178326676: 178326676
9AGPSNM_003659.3(AGPS): c.1406T> C (p.Leu469Pro)single nucleotide variantPathogenicrs121434413GRCh37Chr 2, 178364389: 178364389
10GNPATNM_014236.3(GNPAT): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs121434439GRCh37Chr 1, 231401102: 231401102
11GNPATNM_014236.3(GNPAT): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs121434440GRCh37Chr 1, 231401101: 231401101
12GNPATGNPAT, 2-BP INS, 848TTinsertionPathogenic
13GNPATGNPAT, 1-BP DEL, NT780deletionPathogenic
14GNPATGNPAT, 1-BP DEL, NT1575deletionPathogenic
15PEX7NM_000288.3(PEX7): c.875T> A (p.Leu292Ter)single nucleotide variantPathogenicrs1805137GRCh37Chr 6, 137219351: 137219351
16PEX7NM_000288.3(PEX7): c.649G> A (p.Gly217Arg)single nucleotide variantPathogenicrs121909152GRCh37Chr 6, 137191043: 137191043
17PEX7NM_000288.3(PEX7): c.694C> T (p.Arg232Ter)single nucleotide variantPathogenicrs121909153GRCh37Chr 6, 137191088: 137191088
18PEX7NM_000288.3(PEX7): c.903+1G> Csingle nucleotide variantPathogenicrs148591292GRCh37Chr 6, 137219380: 137219380

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)36
Fatty Acid Beta Oxidation36
10.0SCP2, HADHB
2
Show member pathways
fatty acid beta-oxidation I36
eicosapentaenoate biosynthesis II (metazoa)36
gamma-linolenate biosynthesis II (animals)36
fatty acid activation36
10.0HADHB, SCP2
3
Show member pathways
10.0SCP2, HSD17B4
4
Show member pathways
fatty acid alpha-oxidation II36
phytol degradation36
9.7PHYH, HACL1
5
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis58
9.5HADHB, ACAA1, ACOX1
6
Show member pathways
oleate biosynthesis II (animals)36
9.5ACOX1, HADHB, ACAA1
7
Show member pathways
Cholesterol biosynthesis36
lanosterol biosynthesis36
zymosterol biosynthesis36
mevalonate pathway I36
epoxysqualene biosynthesis36
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)36
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)36
trans, trans-farnesyl diphosphate biosynthesis36
cholesterol biosynthesis I36
cholesterol biosynthesis III (via desmosterol)36
geranylgeranyldiphosphate biosynthesis36
9.3PMVK, HADHB, MVK
8
Show member pathways
9.3HSD17B4, SCP2, ACAA1, ACOX1
9
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
9.3SCP2, ACAA1, ACOX1, HSD17B4
10
Show member pathways
7.3ACOX1, GNPAT, HSD17B4, SCP2, PHYH, SLC25A17
11
Show member pathways
5.2ACAA1, ACOX1, CAT, MVK, PHYH, SCP2
123.7SLC25A17, CAT, ACOX1, ACAA1, MVK, SCP2

Compounds for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Sources:
43Novoseek, 24HMDB
See all sources

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

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
13-oxoacyl-coa4310.0ACAA1, SCP2, GNPAT
23-Oxotetradecanoyl-CoA2410.0HADHB, HSD17B4, ACAA1
33-Oxododecanoyl-CoA2410.0HADHB, HSD17B4, ACAA1
42-Methylacetoacetyl-CoA2410.0HADHB, HSD17B4, ACAA1
5Tetradecanoyl-CoA249.9ACOX1, ACAA1, HADHB
63-Oxodecanoyl-CoA249.9HADHB, HSD17B4, ACAA1
73-Oxooctanoyl-CoA249.9HADHB, HSD17B4, ACAA1
83-Oxohexanoyl-CoA249.9HADHB, HSD17B4, ACAA1
93-Oxohexadecanoyl-CoA249.9HADHB, HSD17B4, ACAA1
10Tridecanoyl-CoA249.9HSD17B4, ACAA1, ACOX1
11Acetoacetyl-CoA249.9HADHB, HSD17B4, ACAA1
12Pentanoyl-CoA249.7ACOX1, ACAA1, GNPAT, HADHB
13Nonanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
14Lauroyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
15Isovaleryl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
16Undecanoyl-CoA249.7GNPAT, ACAA1, ACOX1, HADHB
17trans-Octadec-2-enoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
18Tetracosanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
19Isobutyryl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
20Butyryl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
212-Methylhexanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
222-methylbutyryl-coa43 2410.7HADHB, GNPAT, ACAA1, ACOX1
23Decanoyl-CoA (n-C10:0CoA)249.7ACOX1, ACAA1, GNPAT, HADHB
24Hexanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
25Glutaconyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
263Z-dodecenoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
27Eicosanoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
282-hydroxyphytanoyl-coa43 2410.6PHYH, HACL1
29octanoyl-coa43 2410.6HADHB, GNPAT, ACAA1, ACOX1
30Crotonoyl-CoA249.6GNPAT, ACAA1, ACOX1, HADHB
31Acrylyl-CoA249.6HADHB, GNPAT, ACAA1, ACOX1
32Pristanoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
33trans-2-Hexenoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
34(2E)-Tetradecenoyl-CoA249.6HADHB, GNPAT, ACAA1, ACOX1
35(2E)-Decenoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
36Mevalonic acid-5P249.6MVK, PMVK
37(2E)-Dodecenoyl-CoA249.5ACOX1, ACAA1, GNPAT, HADHB
38(2E)-Octenoyl-CoA249.5ACOX1, HADHB, GNPAT, ACAA1
39Heptanoyl-CoA249.5HADHB, GNPAT, HSD17B4, ACAA1, ACOX1
40acetyl-coa43 2410.5HADHB, GNPAT, SCP2, ACAA1, ACOX1
413a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA249.5ACAA1, HADHB
42(2E)-Hexadecenoyl-CoA249.5HADHB, GNPAT, ACAA1, ACOX1
43stearoyl-coa43 2410.4HADHB, GNPAT, ACAA1, ACOX1
44Propionyl-CoA249.4HADHB, GNPAT, ACAA1, ACOX1
45Palmityl-CoA249.3HADHB, GNPAT, ACAA1, ACOX1
46fatty acid439.1HADHB, PEX7, GNPAT, HSD17B4, SCP2, ACOX1
47sterol439.0HADHB, PMVK, HSD17B4, SCP2, MVK, ACOX1
48phytanic acid438.9PHYH, CAT, ACAA1, SCP2, GNPAT, HACL1
49lipid438.7HADHB, PEX5, GNPAT, SCP2, MVK, ACOX1
50acyl-coa438.6HADHB, PEX5, GNPAT, HSD17B4, SCP2, ACOX1

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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

idNameGO IDScoreTop Affiliating Genes
1integral component of peroxisomal membraneGO:00057798.3PEX3, PEX13, PEX26, PEX12, SLC25A17
2mitochondrionGO:00057397.7AGPS, PEX5, PHYH, ACOX1, SCP2, HSD17B4
3intracellular membrane-bounded organelleGO:00432317.4HSD17B4, SCP2, ACAA1, CAT, SLC25A17, AGPS
4peroxisomal matrixGO:00057827.3PEX5, PEX7, GNPAT, HSD17B4, SCP2, ACAA1
5peroxisomal membraneGO:00057787.1PEX12, GNPAT, HSD17B4, ACOX1, CAT, SLC25A17
6peroxisomeGO:00057773.7HACL1, PEX5, PEX3, PEX13, PEX26, AGPS

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:000861110.1AGPS, GNPAT, PEX7
2protein import into peroxisome matrix, dockingGO:001656010.0PEX13, PEX5
3protein targeting to peroxisomeGO:00066259.9PEX5, PEX12
4cerebral cortex cell migrationGO:00217959.9PEX13, PEX5
5bile acid biosynthetic processGO:00066999.9HSD17B4, SCP2
6protein import into peroxisome membraneGO:00450469.8PEX5, PEX3, PEX26
7isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:00192879.8MVK, PMVK
8protein import into peroxisome matrixGO:00165589.7PEX7, PEX12, PEX26, PEX5
9bile acid metabolic processGO:00082069.7HSD17B4, SCP2, ACAA1
10peroxisome organizationGO:00070319.6PEX3, PEX12, PEX7, SCP2
11neuron migrationGO:00017649.6PEX7, PEX13, PEX5
12unsaturated fatty acid metabolic processGO:00335599.6ACAA1, SCP2, HSD17B4, ACOX1
13alpha-linolenic acid metabolic processGO:00361099.6ACOX1, ACAA1, SCP2, HSD17B4
14cholesterol biosynthetic processGO:00066959.6MVK, PMVK
15fatty acid beta-oxidation using acyl-CoA oxidaseGO:00335409.5HSD17B4, ACOX1, ACAA1, SCP2
16protein tetramerizationGO:00512629.4CAT, PEX5
17very long-chain fatty acid metabolic processGO:00000389.4PEX5, HSD17B4, ACAA1, ACOX1
18fatty acid alpha-oxidationGO:00015618.9HACL1, PEX13, PHYH, SLC25A17
19fatty acid beta-oxidationGO:00066358.5HADHB, PEX5, PEX7, HSD17B4, ACAA1, SLC25A17
20cellular lipid metabolic processGO:00442557.4AGPS, HADHB, HACL1, GNPAT, HSD17B4, SCP2
21small molecule metabolic processGO:00442816.1HSD17B4, GNPAT, PMVK, HACL1, HADHB, SCP2

Molecular functions related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1long-chain-enoyl-CoA hydratase activityGO:001650810.2HADHB, HSD17B4
2FAD bindingGO:007194910.1AGPS, ACOX1
33-hydroxyacyl-CoA dehydrogenase activityGO:000385710.1HADHB, HSD17B4
4palmitoyl-CoA oxidase activityGO:00164019.9ACAA1, ACOX1
5acetyl-CoA C-acyltransferase activityGO:00039889.9HADHB, ACAA1
6fatty-acyl-CoA bindingGO:00000629.9HADHB, SCP2
7cofactor bindingGO:00480379.7HACL1, PHYH
8protein C-terminus bindingGO:00080229.4PEX12, PEX26, PEX5
9receptor bindingGO:00051028.3HSD17B4, SCP2, ACOX1, CAT, PIPOX, HACL1
10protein bindingGO:00055157.0PEX13, SLC25A17, PHYH, ACAA1, SCP2, PEX26

Products for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Sources for Rhizomelic Chondrodysplasia Punctata

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet