MCID: RHZ001
MIFTS: 48

Rhizomelic Chondrodysplasia Punctata

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 12 53 25 59 37 29 6 15
Chondrodysplasia Punctata, Rhizomelic 25 44 73
Rcdp 53 25 59
Chondrodysplasia Punctata, Rhizomelic Form 12
Chondrodysplasia Punctata Rhizomelic 55
Rcp 25

Characteristics:

Orphanet epidemiological data:

59
rhizomelic chondrodysplasia punctata
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:2580
ICD10 33 E71.540
MeSH 44 D018902
NCIt 50 C85047
SNOMED-CT 68 56692003
Orphanet 59 ORPHA177
MESH via Orphanet 45 D018902
UMLS via Orphanet 74 C0282529
ICD10 via Orphanet 34 Q77.3
KEGG 37 H00207
UMLS 73 C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

NIH Rare Diseases : 53 Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). People with RCDP have very poor growth and often develop joint deformities (contractures) that make the joints stiff and painful. Other major features include distinctive facial features, intellectual disability, clouding of the lenses of the eyes (cataracts), heart defects, and respiratory problems. There are 5 types of RCDP, classified according to the associated genemutations:RCDP1 with PEX7 gene RCDP2 with GNPAT gene RCDP3 with AGPS gene RCDP4 (peroxisomal fatty acyl-CoA reductase 1 disorder) with FAR1 gene RCDP5 with PEX5 gene  All these genes are involved in the formation and function of sac-like cell structures called peroxisomes that contain enzymes needed to break down many substances, including fatty acids known as plasmalogens. Deficiency of plasmalogen affects bone growth. Inheritance is autosomal recessive. There is no cure for RCDP. Treatment is  symptomatic and may include physiotherapy and orthopedic procedures, eye surgery, and nutritional plans. For example, RCDP1 patients may need diet restriction of phytanic acid.

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata, type 3 and rhizomelic chondrodysplasia punctata, type 5. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Glycerophospholipid metabolism and Ether lipid metabolism. Affiliated tissues include bone, eye and heart, and related phenotypes are abnormality of the dentition and microcephaly

Genetics Home Reference : 25 Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.

Disease Ontology : 12 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.

Wikipedia : 76 Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic... more...

Related Diseases for Rhizomelic Chondrodysplasia Punctata

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata, type 3 33.1 AGPS GNPAT PEX5 PEX7
2 rhizomelic chondrodysplasia punctata, type 5 33.0 AGPS GNPAT PEX5 PEX7
3 rhizomelic chondrodysplasia punctata, type 2 32.2 AGPS GNPAT PEX5 PEX7 PHYH
4 chondrodysplasia punctata syndrome 31.2 GNPAT PEX5 PEX7
5 rhizomelic chondrodysplasia punctata, type 1 30.8 AGPS GNPAT HADHB PEX5 PEX7 PHYH
6 peroxisomal biogenesis disorders 30.0 PEX5 PEX7
7 zellweger syndrome 29.4 AGPS GNPAT PEX26 PEX5
8 adrenoleukodystrophy 29.4 PEX26 PEX5
9 refsum disease, classic 28.9 GNPAT PEX5 PEX7 PHYH
10 peroxisomal disease 27.3 AGPS GNPAT HADHB PEX5 PEX7 PHYH
11 peroxisome biogenesis disorder 1a 11.4
12 peroxisome biogenesis disorder 9b 11.4
13 peroxisome biogenesis disorder 2a 11.2
14 peroxisome biogenesis disorder 3a 11.2
15 peroxisome biogenesis disorder 4a 11.2
16 peroxisome biogenesis disorder 5a 11.2
17 peroxisome biogenesis disorder 6a 11.2
18 peroxisome biogenesis disorder 7a 11.2
19 peroxisome biogenesis disorder 8a 11.2
20 peroxisome biogenesis disorder 10a 11.2
21 peroxisome biogenesis disorder 11a 11.2
22 peroxisome biogenesis disorder 12a 11.2
23 peroxisome biogenesis disorder 13a 11.2
24 peroxisomal fatty acyl-coa reductase 1 disorder 11.2
25 robin sequence with cleft mandible and limb anomalies 11.2
26 peroxisome disorders 10.5
27 cervicitis 10.4
28 type i 10.3
29 cataract 10.2
30 hepatitis 10.2
31 neonatal respiratory failure 10.2
32 respiratory failure 10.2
33 neuronitis 10.2
34 mulibrey nanism 10.0 PEX5 PEX7
35 breast cancer 10.0
36 neonatal adrenoleukodystrophy 9.5 PEX26 PEX5 PEX7
37 d-bifunctional protein deficiency 9.4 HADHB PEX5
38 peroxisome biogenesis disorder 1b 8.4 GNPAT PEX26 PEX5 PEX7 PHYH

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



Diseases related to Rhizomelic Chondrodysplasia Punctata

Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
2 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
4 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
6 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
7 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
8 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
9 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
10 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
11 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
12 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
13 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
14 epiphyseal stippling 59 32 hallmark (90%) Very frequent (99-80%) HP:0010655
15 intellectual disability, severe 59 32 occasional (7.5%) Occasional (29-5%) HP:0010864
16 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
17 growth delay 59 Very frequent (99-80%)
18 short stature 59 Very frequent (99-80%)
19 abnormality of epiphysis morphology 59 Very frequent (99-80%)
20 limb undergrowth 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 AGPS GNPAT HADHB PEX26 PEX5 PEX7
2 liver/biliary system MP:0005370 9.26 PHYH HADHB PEX5 PEX7
3 reproductive system MP:0005389 9.02 AGPS GNPAT PEX5 PEX7 PHYH

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Cochrane evidence based reviews: chondrodysplasia punctata, rhizomelic

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

Genetic tests related to Rhizomelic Chondrodysplasia Punctata:

# Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata 29

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

41
Bone, Eye, Heart, Brain, Skin, Spinal Cord, Colon

Publications for Rhizomelic Chondrodysplasia Punctata

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 85)
# Title Authors Year
1
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. ( 28742517 )
2017
2
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. ( 28614284 )
2017
3
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853 )
2017
4
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591 )
2016
5
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048 )
2015
6
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015
7
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
8
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. ( 25432520 )
2015
9
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
10
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065 )
2015
11
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923 )
2014
12
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933 )
2014
13
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406 )
2013
14
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609 )
2013
15
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
16
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758 )
2013
17
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221 )
2013
18
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185 )
2013
19
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. ( 23716944 )
2012
20
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. ( 23431749 )
2012
21
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100 )
2012
22
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
23
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. ( 22052861 )
2011
24
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. ( 22692643 )
2011
25
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. ( 20014169 )
2010
26
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. ( 20145307 )
2010
27
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. ( 17950430 )
2007
28
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. ( 16567694 )
2006
29
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. ( 15933890 )
2005
30
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. ( 15824492 )
2005
31
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. ( 16225820 )
2005
32
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. ( 12620550 )
2003
33
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. ( 12915479 )
2003
34
Natural history of rhizomelic chondrodysplasia punctata. ( 12687664 )
2003
35
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. ( 11781871 )
2002
36
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. ( 11901023 )
2002
37
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. ( 12325024 )
2002
38
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. ( 11170096 )
2001
39
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). ( 10972423 )
2000
40
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. ( 10227689 )
1999
41
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. ( 10511306 )
1999
42
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. ( 10083738 )
1999
43
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. ( 10327148 )
1999
44
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. ( 10442551 )
1999
45
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. ( 9536089 )
1998
46
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. ( 9686383 )
1998
47
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. ( 9686382 )
1998
48
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. ( 9090381 )
1997
49
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. ( 9039662 )
1997
50
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. ( 9090383 )
1997

Variations for Rhizomelic Chondrodysplasia Punctata

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

6
(show top 50) (show all 366)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGPS NM_003659.3(AGPS): c.1173C> G (p.Gly391=) single nucleotide variant Benign/Likely benign rs115580413 GRCh37 Chromosome 2, 178346854: 178346854
2 AGPS NM_003659.3(AGPS): c.1173C> G (p.Gly391=) single nucleotide variant Benign/Likely benign rs115580413 GRCh38 Chromosome 2, 177482126: 177482126
3 AGPS NM_003659.3(AGPS): c.147C> T (p.Pro49=) single nucleotide variant Conflicting interpretations of pathogenicity rs34442536 GRCh37 Chromosome 2, 178257664: 178257664
4 AGPS NM_003659.3(AGPS): c.147C> T (p.Pro49=) single nucleotide variant Conflicting interpretations of pathogenicity rs34442536 GRCh38 Chromosome 2, 177392936: 177392936
5 AGPS NM_003659.3(AGPS): c.207A> G (p.Ala69=) single nucleotide variant Benign/Likely benign rs34744592 GRCh37 Chromosome 2, 178257724: 178257724
6 AGPS NM_003659.3(AGPS): c.207A> G (p.Ala69=) single nucleotide variant Benign/Likely benign rs34744592 GRCh38 Chromosome 2, 177392996: 177392996
7 AGPS NM_003659.3(AGPS): c.261-5A> C single nucleotide variant Benign/Likely benign rs73029113 GRCh37 Chromosome 2, 178284992: 178284992
8 AGPS NM_003659.3(AGPS): c.261-5A> C single nucleotide variant Benign/Likely benign rs73029113 GRCh38 Chromosome 2, 177420264: 177420264
9 PEX5 NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs) duplication Pathogenic rs796051881 GRCh38 Chromosome 12, 7202275: 7202275
10 PEX5 NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs) duplication Pathogenic rs796051881 GRCh37 Chromosome 12, 7354871: 7354871
11 PEX7 NM_000288.3(PEX7): c.576C> T (p.Ile192=) single nucleotide variant Uncertain significance rs776411851 GRCh37 Chromosome 6, 137187814: 137187814
12 PEX7 NM_000288.3(PEX7): c.576C> T (p.Ile192=) single nucleotide variant Uncertain significance rs776411851 GRCh38 Chromosome 6, 136866676: 136866676
13 GNPAT NM_014236.3(GNPAT): c.555A> T (p.Ile185=) single nucleotide variant Uncertain significance rs34613633 GRCh37 Chromosome 1, 231398585: 231398585
14 GNPAT NM_014236.3(GNPAT): c.555A> T (p.Ile185=) single nucleotide variant Uncertain significance rs34613633 GRCh38 Chromosome 1, 231262839: 231262839
15 AGPS NM_003659.3(AGPS): c.214A> G (p.Thr72Ala) single nucleotide variant Uncertain significance rs560217758 GRCh38 Chromosome 2, 177393003: 177393003
16 AGPS NM_003659.3(AGPS): c.214A> G (p.Thr72Ala) single nucleotide variant Uncertain significance rs560217758 GRCh37 Chromosome 2, 178257731: 178257731
17 GNPAT NM_014236.3(GNPAT): c.26C> T (p.Ser9Phe) single nucleotide variant Benign/Likely benign rs113480953 GRCh37 Chromosome 1, 231377150: 231377150
18 GNPAT NM_014236.3(GNPAT): c.26C> T (p.Ser9Phe) single nucleotide variant Benign/Likely benign rs113480953 GRCh38 Chromosome 1, 231241404: 231241404
19 GNPAT NM_014236.3(GNPAT): c.525A> G (p.Leu175=) single nucleotide variant Benign/Likely benign rs6659098 GRCh37 Chromosome 1, 231398555: 231398555
20 GNPAT NM_014236.3(GNPAT): c.525A> G (p.Leu175=) single nucleotide variant Benign/Likely benign rs6659098 GRCh38 Chromosome 1, 231262809: 231262809
21 GNPAT NM_014236.3(GNPAT): c.915G> A (p.Glu305=) single nucleotide variant Benign rs574553 GRCh37 Chromosome 1, 231401902: 231401902
22 GNPAT NM_014236.3(GNPAT): c.915G> A (p.Glu305=) single nucleotide variant Benign rs574553 GRCh38 Chromosome 1, 231266156: 231266156
23 GNPAT NM_014236.3(GNPAT): c.1212T> C (p.Ala404=) single nucleotide variant Uncertain significance rs143205045 GRCh38 Chromosome 1, 231267836: 231267836
24 GNPAT NM_014236.3(GNPAT): c.1212T> C (p.Ala404=) single nucleotide variant Uncertain significance rs143205045 GRCh37 Chromosome 1, 231403582: 231403582
25 PEX7 NM_000288.3(PEX7): c.-31G> A single nucleotide variant Benign/Likely benign rs115866467 GRCh38 Chromosome 6, 136822635: 136822635
26 PEX7 NM_000288.3(PEX7): c.-31G> A single nucleotide variant Benign/Likely benign rs115866467 GRCh37 Chromosome 6, 137143773: 137143773
27 GNPAT NM_014236.3(GNPAT): c.-121C> T single nucleotide variant Uncertain significance rs573141457 GRCh38 Chromosome 1, 231241258: 231241258
28 GNPAT NM_014236.3(GNPAT): c.-121C> T single nucleotide variant Uncertain significance rs573141457 GRCh37 Chromosome 1, 231377004: 231377004
29 GNPAT NM_014236.3(GNPAT): c.-6C> T single nucleotide variant Uncertain significance rs370992541 GRCh38 Chromosome 1, 231241373: 231241373
30 GNPAT NM_014236.3(GNPAT): c.-6C> T single nucleotide variant Uncertain significance rs370992541 GRCh37 Chromosome 1, 231377119: 231377119
31 GNPAT NM_014236.3(GNPAT): c.278T> G (p.Leu93Arg) single nucleotide variant Uncertain significance rs886046089 GRCh38 Chromosome 1, 231260523: 231260523
32 GNPAT NM_014236.3(GNPAT): c.278T> G (p.Leu93Arg) single nucleotide variant Uncertain significance rs886046089 GRCh37 Chromosome 1, 231396269: 231396269
33 GNPAT NM_014236.3(GNPAT): c.798A> G (p.Pro266=) single nucleotide variant Uncertain significance rs371142386 GRCh38 Chromosome 1, 231266039: 231266039
34 GNPAT NM_014236.3(GNPAT): c.798A> G (p.Pro266=) single nucleotide variant Uncertain significance rs371142386 GRCh37 Chromosome 1, 231401785: 231401785
35 GNPAT NM_014236.3(GNPAT): c.1031G> A (p.Arg344Gln) single nucleotide variant Uncertain significance rs375611364 GRCh38 Chromosome 1, 231266383: 231266383
36 GNPAT NM_014236.3(GNPAT): c.1031G> A (p.Arg344Gln) single nucleotide variant Uncertain significance rs375611364 GRCh37 Chromosome 1, 231402129: 231402129
37 GNPAT NM_014236.3(GNPAT): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance rs201538200 GRCh38 Chromosome 1, 231266395: 231266395
38 GNPAT NM_014236.3(GNPAT): c.1043A> G (p.Asn348Ser) single nucleotide variant Uncertain significance rs201538200 GRCh37 Chromosome 1, 231402141: 231402141
39 GNPAT NM_014236.3(GNPAT): c.1280-8G> A single nucleotide variant Uncertain significance rs776118687 GRCh38 Chromosome 1, 231270750: 231270750
40 GNPAT NM_014236.3(GNPAT): c.1280-8G> A single nucleotide variant Uncertain significance rs776118687 GRCh37 Chromosome 1, 231406496: 231406496
41 GNPAT NM_014236.3(GNPAT): c.1308G> A (p.Pro436=) single nucleotide variant Uncertain significance rs151138534 GRCh38 Chromosome 1, 231270786: 231270786
42 GNPAT NM_014236.3(GNPAT): c.1308G> A (p.Pro436=) single nucleotide variant Uncertain significance rs151138534 GRCh37 Chromosome 1, 231406532: 231406532
43 GNPAT NM_014236.3(GNPAT): c.1424T> C (p.Leu475Pro) single nucleotide variant Uncertain significance rs886046091 GRCh38 Chromosome 1, 231270902: 231270902
44 GNPAT NM_014236.3(GNPAT): c.1424T> C (p.Leu475Pro) single nucleotide variant Uncertain significance rs886046091 GRCh37 Chromosome 1, 231406648: 231406648
45 GNPAT NM_014236.3(GNPAT): c.1453C> T (p.Leu485=) single nucleotide variant Conflicting interpretations of pathogenicity rs370837823 GRCh38 Chromosome 1, 231270931: 231270931
46 GNPAT NM_014236.3(GNPAT): c.1453C> T (p.Leu485=) single nucleotide variant Conflicting interpretations of pathogenicity rs370837823 GRCh37 Chromosome 1, 231406677: 231406677
47 GNPAT NM_014236.3(GNPAT): c.1488A> G (p.Ala496=) single nucleotide variant Uncertain significance rs886046092 GRCh38 Chromosome 1, 231270966: 231270966
48 GNPAT NM_014236.3(GNPAT): c.1488A> G (p.Ala496=) single nucleotide variant Uncertain significance rs886046092 GRCh37 Chromosome 1, 231406712: 231406712
49 GNPAT NM_014236.3(GNPAT): c.2023C> T (p.Pro675Ser) single nucleotide variant Uncertain significance rs749833026 GRCh38 Chromosome 1, 231277522: 231277522
50 GNPAT NM_014236.3(GNPAT): c.2023C> T (p.Pro675Ser) single nucleotide variant Uncertain significance rs749833026 GRCh37 Chromosome 1, 231413268: 231413268

Expression for Rhizomelic Chondrodysplasia Punctata

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

Pathways for Rhizomelic Chondrodysplasia Punctata

Pathways related to Rhizomelic Chondrodysplasia Punctata according to KEGG:

37
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564
2 Ether lipid metabolism hsa00565
3 Peroxisome hsa04146

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.1 AGPS GNPAT
2 11.09 AGPS GNPAT MVK PEX26 PEX5 PEX7
3
Show member pathways
10.86 AGPS GNPAT PHYH
4
Show member pathways
10.52 AGPS GNPAT

GO Terms for Rhizomelic Chondrodysplasia Punctata

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 AGPS GNPAT HADHB PEX5 PHYH
2 peroxisomal membrane GO:0005778 9.46 AGPS GNPAT PEX26 PEX5
3 peroxisomal matrix GO:0005782 9.26 AGPS GNPAT PEX7 PHYH
4 peroxisome GO:0005777 9.17 AGPS GNPAT MVK PEX26 PEX5 PEX7

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.62 AGPS HADHB MVK PHYH
2 fatty acid metabolic process GO:0006631 9.54 GNPAT HADHB PHYH
3 neuron migration GO:0001764 9.46 PEX5 PEX7
4 peroxisome organization GO:0007031 9.43 PEX5 PEX7
5 cellular lipid metabolic process GO:0044255 9.4 GNPAT PEX5
6 fatty acid beta-oxidation GO:0006635 9.33 HADHB PEX5 PEX7
7 protein import into peroxisome membrane GO:0045046 9.26 PEX26 PEX5
8 protein import into peroxisome matrix GO:0016558 9.13 PEX26 PEX5 PEX7
9 ether lipid biosynthetic process GO:0008611 8.8 AGPS GNPAT PEX7

Sources for Rhizomelic Chondrodysplasia Punctata

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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