MCID: RHZ011
MIFTS: 49

Rhizomelic Chondrodysplasia Punctata, Type 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata, Type 1

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata, Type 1:

Name: Rhizomelic Chondrodysplasia Punctata, Type 1 57 75 13 55 73
Rhizomelic Chondrodysplasia Punctata Type 1 12 24 53 59 29 6 15
Rcdp1 57 12 24 53 75
Peroxisome Biogenesis Disorder 9 57 12 75
Pbd9 57 12 75
Chondrodysplasia Punctata, Rhizomelic Form 57 75
Chondrodystrophia Calcificans Punctata 57 75
Cdpr 57 75
Chondrodysplasia Punctata, Rhizomelic Form; Cdpr 57
Chondrodysplasia Punctata, Rhizomelic, Type 1 40
Peroxisome Biogenesis Disorder 9; Pbd9 57
Rhizomelic Chondrodysplasia Punctata 1 75
Chondrodysplasia Punctata, Rhizomelic 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of children die before age 2


HPO:

32
rhizomelic chondrodysplasia punctata, type 1:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance is complete and the same for either sex...

Classifications:



Summaries for Rhizomelic Chondrodysplasia Punctata, Type 1

OMIM : 57 Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see 214100. (215100)

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, Type 1, also known as rhizomelic chondrodysplasia punctata type 1, is related to chondrodysplasia punctata syndrome and rhizomelic chondrodysplasia punctata, and has symptoms including muscle spasticity and seizures. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 1 is PEX7 (Peroxisomal Biogenesis Factor 7), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Peroxisome. Affiliated tissues include bone and eye, and related phenotypes are malar flattening and frontal bossing

UniProtKB/Swiss-Prot : 75 Rhizomelic chondrodysplasia punctata 1: A peroxisome biogenesis disorder. It is characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.

NIH Rare Diseases : 53 Rhizomelic chondrodysplasia punctata type 1 (RCDP1) 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. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.

Disease Ontology : 12 A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.

GeneReviews: NBK1270

Related Diseases for Rhizomelic Chondrodysplasia Punctata, Type 1

Diseases in the Rhizomelic Chondrodysplasia Punctata family:

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

Diseases related to Rhizomelic Chondrodysplasia Punctata, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata syndrome 31.1 GNPAT PEX5 PEX7
2 rhizomelic chondrodysplasia punctata 30.0 AGPS GNPAT HADHB PEX5 PEX7 PHYH
3 zellweger spectrum disorder 10.3 PEX12 PEX2
4 neonatal respiratory failure 10.2
5 respiratory failure 10.2
6 alpha-methylacyl-coa racemase deficiency 10.0 ACOX1 HSD17B4 PHYH SCP2
7 human herpesvirus 8 9.9 IL6R RBFOX2
8 peroxisomal acyl-coa oxidase deficiency 9.9 ACOX1 HSD17B4 PEX5 SCP2
9 mulibrey nanism 9.9 PEX5 PEX7
10 d-bifunctional protein deficiency 9.7 ACOX1 HADHB HSD17B4 PEX5 SCP2
11 refsum disease, classic 9.4 GNPAT HSD17B4 PEX5 PEX7 PHYH SCP2
12 zellweger syndrome 9.4 AGPS GNPAT PEX12 PEX2 PEX5
13 neonatal adrenoleukodystrophy 9.3 ACOX1 PEX12 PEX2 PEX5 PEX7 SCP2
14 rhizomelic chondrodysplasia punctata, type 3 9.2 AGPS GNPAT PEX5 PEX7 UROD
15 peroxisomal biogenesis disorders 9.2 HSD17B4 PEX12 PEX2 PEX5 PEX7 PHEX
16 peroxisomal disease 8.8 AGPS GNPAT HADHB HSD17B4 PEX2 PEX5
17 rhizomelic chondrodysplasia punctata, type 5 8.7 AGPS FAR1 GNPAT PEX5 PEX5L PEX7
18 peroxisome biogenesis disorder 1b 8.5 GNPAT HSD17B4 PEX12 PEX2 PEX5 PEX7
19 rhizomelic chondrodysplasia punctata, type 2 6.9 AGPS FAR1 GNPAT PEX5 PEX5L PEX7

Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata, Type 1:



Diseases related to Rhizomelic Chondrodysplasia Punctata, Type 1

Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata, Type 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
micrognathia
flat face

Respiratory Lung:
respiratory insufficiency

Skin Nails Hair Skin:
ichthyosis

Skin Nails Hair Hair:
alopecia

Skeletal Spine:
kyphoscoliosis
coronal cleft of vertebrae

Skeletal Limbs:
joint contractures
symmetrical rhizomelic limb shortening
metaphyseal splaying
epiphyseal calcification

Growth Height:
dwarfism

Skeletal:
calcific stippling of infantile cartilaginous skeleton
disappearance of stippling in first year of life

Neurologic Central Nervous System:
seizures
spasticity
mental retardation
cortical atrophy
severe delay in myelination

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate

Growth Other:
severe failure to thrive

Head And Neck Nose:
low nasal bridge

Head And Neck Ears:
sensorineural deafness

Head And Neck Eyes:
upward slanting palpebral fissures
congenital cataracts

Laboratory Abnormalities:
plasmalogen deficiency
acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency
elevated plasma phytanic acid
unprocessed 3-oxoacyl coa thiolase


Clinical features from OMIM:

215100

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 1:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 spasticity 32 HP:0001257
6 respiratory insufficiency 32 HP:0002093
7 depressed nasal bridge 32 HP:0005280
8 microcephaly 32 HP:0000252
9 sensorineural hearing impairment 32 HP:0000407
10 ichthyosis 32 HP:0008064
11 flexion contracture 32 HP:0001371
12 abnormality of metabolism/homeostasis 32 HP:0001939
13 cleft palate 32 HP:0000175
14 micrognathia 32 HP:0000347
15 epiphyseal stippling 32 HP:0010655
16 flat face 32 HP:0012368
17 alopecia 32 HP:0001596
18 cerebral cortical atrophy 32 HP:0002120
19 rhizomelia 32 HP:0008905
20 upslanted palpebral fissure 32 HP:0000582
21 severe short stature 32 HP:0003510
22 severe failure to thrive 32 HP:0001525
23 kyphoscoliosis 32 HP:0002751
24 coronal cleft vertebrae 32 HP:0003417
25 congenital cataract 32 HP:0000519
26 flared metaphysis 32 HP:0003015
27 delayed cns myelination 32 HP:0002188
28 calcific stippling of infantile cartilaginous skeleton 32 HP:0005841

UMLS symptoms related to Rhizomelic Chondrodysplasia Punctata, Type 1:


muscle spasticity, seizures

GenomeRNAi Phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 10.03 PHYH UROD FAR1 GNPAT
2 Decreased viability GR00402-S-2 10.03 HADHB HSD17B4 IL1A IL6R PEX12 PEX2
3 no effect GR00402-S-1 9.62 ACOX1 AGPS DOK7 FAR1 GNPAT HADHB

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 GNPAT HADHB HSD17B4 IL6R PEX2 PEX5
2 homeostasis/metabolism MP:0005376 10.24 ACOX1 AGPS GNPAT HADHB HSD17B4 IL1A
3 behavior/neurological MP:0005386 10.23 DOK7 HSD17B4 IL6R PEX2 PEX5 PEX5L
4 endocrine/exocrine gland MP:0005379 10.03 ACOX1 AGPS GNPAT HSD17B4 IL6R PEX2
5 immune system MP:0005387 10.02 PHYH PLP1 SCP2 ACOX1 HSD17B4 IL1A
6 mortality/aging MP:0010768 9.97 AGPS DOK7 GNPAT HADHB HSD17B4 IL6R
7 liver/biliary system MP:0005370 9.96 ACOX1 HADHB HSD17B4 IL6R PEX2 PEX5
8 nervous system MP:0003631 9.73 PEX2 DOK7 GNPAT HSD17B4 IL6R PEX5
9 reproductive system MP:0005389 9.23 ACOX1 AGPS GNPAT HSD17B4 PEX5 PEX7

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata, Type 1

Search Clinical Trials , NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata, Type 1

Genetic Tests for Rhizomelic Chondrodysplasia Punctata, Type 1

Genetic tests related to Rhizomelic Chondrodysplasia Punctata, Type 1:

# Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata Type 1 29 PEX7

Anatomical Context for Rhizomelic Chondrodysplasia Punctata, Type 1

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata, Type 1:

41
Bone, Eye

Publications for Rhizomelic Chondrodysplasia Punctata, Type 1

Articles related to Rhizomelic Chondrodysplasia Punctata, Type 1:

# Title Authors Year
1
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853 )
2017
2
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
3
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
4
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
5
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. ( 22052861 )
2011
6
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. ( 20014169 )
2010
7
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. ( 20145307 )
2010
8
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. ( 11781871 )
2002
9
Rhizomelic Chondrodysplasia Punctata Type 1 ( 20301447 )
1993

Variations for Rhizomelic Chondrodysplasia Punctata, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Rhizomelic Chondrodysplasia Punctata, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 PEX7 p.Ala218Val VAR_007726 rs121909151

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata, Type 1:

6
(show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX7 NM_000288.3(PEX7): c.875T> A (p.Leu292Ter) single nucleotide variant Pathogenic rs1805137 GRCh37 Chromosome 6, 137219351: 137219351
2 PEX7 NM_000288.3(PEX7): c.875T> A (p.Leu292Ter) single nucleotide variant Pathogenic rs1805137 GRCh38 Chromosome 6, 136898213: 136898213
3 PEX7 NM_000288.3(PEX7): c.653C> T (p.Ala218Val) single nucleotide variant Likely pathogenic rs121909151 GRCh37 Chromosome 6, 137191047: 137191047
4 PEX7 NM_000288.3(PEX7): c.653C> T (p.Ala218Val) single nucleotide variant Likely pathogenic rs121909151 GRCh38 Chromosome 6, 136869909: 136869909
5 PEX7 NM_000288.3(PEX7): c.649G> A (p.Gly217Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909152 GRCh37 Chromosome 6, 137191043: 137191043
6 PEX7 NM_000288.3(PEX7): c.649G> A (p.Gly217Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909152 GRCh38 Chromosome 6, 136869905: 136869905
7 PEX7 NM_000288.3(PEX7): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909153 GRCh37 Chromosome 6, 137191088: 137191088
8 PEX7 NM_000288.3(PEX7): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909153 GRCh38 Chromosome 6, 136869950: 136869950
9 PEX7 NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs) duplication Pathogenic rs199470486 GRCh37 Chromosome 6, 137143848: 137143855
10 PEX7 NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs) duplication Pathogenic rs199470486 GRCh38 Chromosome 6, 136822710: 136822717
11 PEX7 NM_000288.3(PEX7): c.903+1G> C single nucleotide variant Pathogenic rs148591292 GRCh37 Chromosome 6, 137219380: 137219380
12 PEX7 NM_000288.3(PEX7): c.903+1G> C single nucleotide variant Pathogenic rs148591292 GRCh38 Chromosome 6, 136898242: 136898242
13 PEX7 NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter) single nucleotide variant Likely pathogenic rs121909154 GRCh37 Chromosome 6, 137166758: 137166758
14 PEX7 NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter) single nucleotide variant Likely pathogenic rs121909154 GRCh38 Chromosome 6, 136845620: 136845620
15 PEX7 NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753238 GRCh37 Chromosome 6, 137143923: 137143923
16 PEX7 NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753238 GRCh38 Chromosome 6, 136822785: 136822785
17 PEX7 NM_000288.3(PEX7): c.40A> C (p.Thr14Pro) single nucleotide variant Pathogenic rs61753233 GRCh37 Chromosome 6, 137143843: 137143843
18 PEX7 NM_000288.3(PEX7): c.40A> C (p.Thr14Pro) single nucleotide variant Pathogenic rs61753233 GRCh38 Chromosome 6, 136822705: 136822705
19 PEX7 NM_000288.3(PEX7): c.854A> G (p.His285Arg) single nucleotide variant Pathogenic rs62653611 GRCh37 Chromosome 6, 137219330: 137219330
20 PEX7 NM_000288.3(PEX7): c.854A> G (p.His285Arg) single nucleotide variant Pathogenic rs62653611 GRCh38 Chromosome 6, 136898192: 136898192
21 PEX7 NM_000288.3(PEX7): c.74C> T (p.Ser25Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61753236 GRCh37 Chromosome 6, 137143877: 137143877
22 PEX7 NM_000288.3(PEX7): c.74C> T (p.Ser25Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61753236 GRCh38 Chromosome 6, 136822739: 136822739
23 PEX7 NM_000288.3(PEX7): c.188+1G> C single nucleotide variant Pathogenic rs267608254 GRCh37 Chromosome 6, 137146410: 137146410
24 PEX7 NM_000288.3(PEX7): c.188+1G> C single nucleotide variant Pathogenic rs267608254 GRCh38 Chromosome 6, 136825272: 136825272
25 PEX7 NM_000288.3(PEX7): c.400G> A (p.Asp134Asn) single nucleotide variant Likely pathogenic rs764346452 GRCh37 Chromosome 6, 137166813: 137166813
26 PEX7 NM_000288.3(PEX7): c.400G> A (p.Asp134Asn) single nucleotide variant Likely pathogenic rs764346452 GRCh38 Chromosome 6, 136845675: 136845675
27 PEX7 NM_000288.3(PEX7): c.618G> A (p.Trp206Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753245 GRCh37 Chromosome 6, 137187856: 137187856
28 PEX7 NM_000288.3(PEX7): c.618G> A (p.Trp206Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753245 GRCh38 Chromosome 6, 136866718: 136866718
29 PEX7 NM_000288.3(PEX7): c.183delT (p.Phe61Leufs) deletion Likely pathogenic rs1085307085 GRCh38 Chromosome 6, 136825266: 136825266
30 PEX7 NM_000288.3(PEX7): c.183delT (p.Phe61Leufs) deletion Likely pathogenic rs1085307085 GRCh37 Chromosome 6, 137146404: 137146404
31 PEX7 NM_000288.3(PEX7): c.13_19dupTGCGGTG (p.Gly7Valfs) duplication Likely pathogenic rs62636519 GRCh38 Chromosome 6, 136822678: 136822684
32 PEX7 NM_000288.3(PEX7): c.13_19dupTGCGGTG (p.Gly7Valfs) duplication Likely pathogenic rs62636519 GRCh37 Chromosome 6, 137143816: 137143822
33 PEX7 NM_000288.3(PEX7): c.31_56del26 (p.Met11Leufs) deletion Likely pathogenic rs1057516961 GRCh37 Chromosome 6, 137143834: 137143859
34 PEX7 NM_000288.3(PEX7): c.31_56del26 (p.Met11Leufs) deletion Likely pathogenic rs1057516961 GRCh38 Chromosome 6, 136822696: 136822721
35 PEX7 NM_000288.3(PEX7): c.60C> G (p.Tyr20Ter) single nucleotide variant Likely pathogenic rs1057516882 GRCh37 Chromosome 6, 137143863: 137143863
36 PEX7 NM_000288.3(PEX7): c.60C> G (p.Tyr20Ter) single nucleotide variant Likely pathogenic rs1057516882 GRCh38 Chromosome 6, 136822725: 136822725
37 PEX7 NM_000288.3(PEX7): c.81C> G (p.Tyr27Ter) single nucleotide variant Likely pathogenic rs1057516737 GRCh37 Chromosome 6, 137143884: 137143884
38 PEX7 NM_000288.3(PEX7): c.81C> G (p.Tyr27Ter) single nucleotide variant Likely pathogenic rs1057516737 GRCh38 Chromosome 6, 136822746: 136822746
39 PEX7 NM_000288.3(PEX7): c.130+1G> C single nucleotide variant Likely pathogenic rs267608253 GRCh37 Chromosome 6, 137143934: 137143934
40 PEX7 NM_000288.3(PEX7): c.130+1G> C single nucleotide variant Likely pathogenic rs267608253 GRCh38 Chromosome 6, 136822796: 136822796
41 PEX7 NM_000288.3(PEX7): c.277C> T (p.Gln93Ter) single nucleotide variant Likely pathogenic rs763514968 GRCh37 Chromosome 6, 137147545: 137147545
42 PEX7 NM_000288.3(PEX7): c.277C> T (p.Gln93Ter) single nucleotide variant Likely pathogenic rs763514968 GRCh38 Chromosome 6, 136826407: 136826407
43 PEX7 NM_000288.3(PEX7): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs62653604 GRCh37 Chromosome 6, 137147602: 137147602
44 PEX7 NM_000288.3(PEX7): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs62653604 GRCh38 Chromosome 6, 136826464: 136826464
45 PEX7 NM_000288.3(PEX7): c.339+2T> C single nucleotide variant Likely pathogenic rs1057517059 GRCh38 Chromosome 6, 136826471: 136826471
46 PEX7 NM_000288.3(PEX7): c.339+2T> C single nucleotide variant Likely pathogenic rs1057517059 GRCh37 Chromosome 6, 137147609: 137147609
47 PEX7 NM_000288.3(PEX7): c.508delT (p.Cys170Valfs) deletion Likely pathogenic rs1057516827 GRCh37 Chromosome 6, 137167301: 137167301
48 PEX7 NM_000288.3(PEX7): c.508delT (p.Cys170Valfs) deletion Likely pathogenic rs1057516827 GRCh38 Chromosome 6, 136846163: 136846163
49 PEX7 NM_000288.3(PEX7): c.527-2A> G single nucleotide variant Likely pathogenic rs1057517339 GRCh38 Chromosome 6, 136866625: 136866625
50 PEX7 NM_000288.3(PEX7): c.527-2A> G single nucleotide variant Likely pathogenic rs1057517339 GRCh37 Chromosome 6, 137187763: 137187763

Expression for Rhizomelic Chondrodysplasia Punctata, Type 1

Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata, Type 1.

Pathways for Rhizomelic Chondrodysplasia Punctata, Type 1

GO Terms for Rhizomelic Chondrodysplasia Punctata, Type 1

Cellular components related to Rhizomelic Chondrodysplasia Punctata, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.97 ACOX1 AGPS DOK7 GNPAT HADHB HSD17B4
2 peroxisome GO:0005777 9.9 ACOX1 AGPS FAR1 GNPAT HSD17B4 PEX12
3 peroxisomal membrane GO:0005778 9.61 ACOX1 AGPS FAR1 GNPAT HSD17B4 PEX12
4 integral component of peroxisomal membrane GO:0005779 9.43 FAR1 PEX12 PEX2
5 peroxisomal matrix GO:0005782 9.23 ACOX1 AGPS FAR1 GNPAT HSD17B4 PEX7
6 membrane GO:0016020 10.24 ACOX1 AGPS DOK7 FAR1 GNPAT HADHB

Biological processes related to Rhizomelic Chondrodysplasia Punctata, Type 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 ACOX1 AGPS FAR1 HSD17B4 PHYH
2 lipid metabolic process GO:0006629 9.91 ACOX1 AGPS FAR1 HADHB HSD17B4 PHYH
3 fatty acid metabolic process GO:0006631 9.72 ACOX1 GNPAT HADHB HSD17B4 PHYH
4 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 ACOX1 HSD17B4 SCP2
5 protein import into peroxisome matrix GO:0016558 9.56 PEX12 PEX2 PEX5 PEX7
6 peroxisome organization GO:0007031 9.55 PEX12 PEX2 PEX5 PEX7 SCP2
7 alpha-linolenic acid metabolic process GO:0036109 9.54 ACOX1 HSD17B4 SCP2
8 bile acid biosynthetic process GO:0006699 9.52 HSD17B4 SCP2
9 cellular lipid metabolic process GO:0044255 9.51 GNPAT PEX5
10 very long-chain fatty acid metabolic process GO:0000038 9.49 ACOX1 PEX2
11 protein targeting to peroxisome GO:0006625 9.48 PEX12 PEX7
12 protein import into peroxisome matrix, docking GO:0016560 9.46 PEX5 PEX5L
13 ether lipid biosynthetic process GO:0008611 9.26 AGPS FAR1 GNPAT PEX7
14 fatty acid beta-oxidation GO:0006635 9.1 ACOX1 HADHB HSD17B4 PEX2 PEX5 PEX7

Molecular functions related to Rhizomelic Chondrodysplasia Punctata, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 ACOX1 AGPS FAR1 HSD17B4 PHYH
2 FAD binding GO:0071949 9.37 ACOX1 AGPS
3 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.26 HADHB SCP2
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.16 HADHB HSD17B4
5 peroxisome targeting sequence binding GO:0000268 8.96 PEX5 PEX5L
6 peroxisome matrix targeting signal-1 binding GO:0005052 8.62 PEX5 PEX5L

Sources for Rhizomelic Chondrodysplasia Punctata, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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