RCP
MCID: RHZ001
MIFTS: 53

Rhizomelic Chondrodysplasia Punctata (RCP)

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 12 52 25 58 36 29 6 15
Chondrodysplasia Punctata, Rhizomelic 25 43 71
Rcdp 52 25 58
Chondrodysplasia Punctata, Rhizomelic Form 12
Chondrodysplasia Punctata Rhizomelic 54
Rcp 25

Characteristics:

Orphanet epidemiological data:

58
rhizomelic chondrodysplasia punctata
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:2580
KEGG 36 H00207
MeSH 43 D018902
NCIt 49 C85047
SNOMED-CT 67 56692003
ICD10 32 E71.540
MESH via Orphanet 44 D018902
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C0282529
Orphanet 58 ORPHA177
UMLS 71 C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

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. Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy. Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common. Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. It is rare for affected children to live past age 10. However, a few individuals with milder features of the condition have lived into early adulthood. Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar features and are distinguished by their genetic cause.

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata, type 5 and rhizomelic chondrodysplasia punctata, type 3. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (Peroxisomal Biogenesis Factor 7), and among its related pathways/superpathways are Glycerophospholipid metabolism and Ether lipid metabolism. Affiliated tissues include bone, eye and brain, and related phenotypes are cataract and scoliosis

Disease Ontology : 12 A chondrodysplasia punctata that is 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.

NIH Rare Diseases : 52 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 gene mutations : 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.

KEGG : 36 Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.

Wikipedia : 74 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 top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata, type 5 35.0 PEX7 PEX5 GNPAT AGPS
2 rhizomelic chondrodysplasia punctata, type 3 34.9 PHYH PEX7 PEX5 GNPAT AGPS
3 rhizomelic chondrodysplasia punctata, type 2 34.6 PHYH PEX7 PEX5 PEX16 PEX13 GNPAT
4 rhizomelic chondrodysplasia punctata, type 1 34.4 PHYH PEX7 PEX6 PEX5 PEX13 HADHB
5 peroxisome biogenesis disorder 1a 30.9 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
6 chondrodysplasia punctata syndrome 30.0 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX26
7 peroxisome biogenesis disorder 1b 29.8 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
8 neonatal adrenoleukodystrophy 29.1 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
9 refsum disease, classic 28.5 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
10 leukodystrophy 28.5 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
11 adrenoleukodystrophy 28.4 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
12 peroxisomal biogenesis disorder 28.3 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
13 peroxisomal disease 27.9 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
14 zellweger syndrome 27.4 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
15 non-rhizomelic chondrodysplasia punctata 12.7
16 peroxisome biogenesis disorder 9b 12.0
17 peroxisomal fatty acyl-coa reductase 1 disorder 12.0
18 peroxisome biogenesis disorder 2a 11.5
19 peroxisome biogenesis disorder 3a 11.5
20 peroxisome biogenesis disorder 4a 11.5
21 peroxisome biogenesis disorder 5a 11.5
22 peroxisome biogenesis disorder 6a 11.5
23 peroxisome biogenesis disorder 7a 11.5
24 peroxisome biogenesis disorder 8a 11.5
25 peroxisome biogenesis disorder 10a 11.5
26 peroxisome biogenesis disorder 11a 11.5
27 peroxisome biogenesis disorder 12a 11.5
28 peroxisome biogenesis disorder 13a 11.5
29 robin sequence with cleft mandible and limb anomalies 11.5
30 autosomal recessive disease 10.9
31 cataract 10.9
32 microcephaly 10.6
33 spinal stenosis 10.6
34 adrenomyeloneuropathy 10.6
35 tetralogy of fallot 10.5
36 alacrima, achalasia, and mental retardation syndrome 10.5
37 x-linked chondrodysplasia punctata 1 10.5
38 congenital contractures 10.5
39 spasticity 10.5
40 chromosomal triplication 10.5
41 hepatorenal syndrome 10.3
42 autoimmune disease 10.3
43 otitis media 10.3
44 3-methylglutaconic aciduria, type iii 10.3
45 sjogren-larsson syndrome 10.3
46 orthostatic intolerance 10.3
47 patent ductus arteriosus 1 10.3
48 peroxisome biogenesis disorder 7b 10.3
49 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
50 spastic quadriplegia 10.3

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
8 epiphyseal stippling 58 31 hallmark (90%) Very frequent (99-80%) HP:0010655
9 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
10 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
11 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
12 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
13 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
14 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
15 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
16 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
17 short stature 58 Very frequent (99-80%)
18 growth delay 58 Very frequent (99-80%)
19 abnormality of epiphysis morphology 58 Very frequent (99-80%)
20 limb undergrowth 58 Very frequent (99-80%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.64 PEX16 PEX26
2 Decreased viability GR00249-S 9.64 AGPS PEX3 SLC25A17
3 Decreased viability GR00381-A-1 9.64 GNPAT PHYH
4 Decreased viability GR00386-A-1 9.64 AGPS HADHB PEX13 PEX16 PEX19 PEX26
5 Decreased viability GR00402-S-2 9.64 ACAA1 PEX10 PEX12 PEX13 PEX2 PEX26

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 GNPAT HADHB MVK PEX1 PEX10 PEX13
2 endocrine/exocrine gland MP:0005379 9.97 AGPS GNPAT MVK PEX1 PEX13 PEX2
3 homeostasis/metabolism MP:0005376 9.97 ACAA1 AGPS GNPAT HADHB PEX1 PEX10
4 liver/biliary system MP:0005370 9.5 HADHB PEX1 PEX13 PEX2 PEX5 PEX7
5 mortality/aging MP:0010768 9.4 AGPS GNPAT HADHB MVK PEX1 PEX10

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP) Recruiting NCT04031287
2 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:

40
Bone, Eye, Brain, Heart, Skin, Liver, Retina

Publications for Rhizomelic Chondrodysplasia Punctata

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 270)
# Title Authors PMID Year
1
Identification of PEX7 as the second gene involved in Refsum disease. 61 54 6
12522768 2003
2
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. 54 61 6
12325024 2002
3
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. 61 6 54
10673331 2000
4
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. 61 6 54
10083738 1999
5
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 61 6 54
9090381 1997
6
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. 54 61 6
9090383 1997
7
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. 6 61 54
7530787 1994
8
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. 61 6
21990100 2012
9
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. 6 61
11781871 2002
10
Rhizomelic Chondrodysplasia Punctata Type 1 6 61
20301447 2001
11
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. 61 6
9843043 1998
12
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. 6 61
9536089 1998
13
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. 61 6
9553082 1998
14
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. 61 6
9090382 1997
15
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. 61 6
8295403 1993
16
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. 61 6
1773541 1991
17
Growth charts for individuals with rhizomelic chondrodysplasia punctata. 52 61
27616591 2017
18
Impaired membrane traffic in defective ether lipid biosynthesis. 6
11152660 2001
19
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. 6
7807941 1994
20
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. 6
1405476 1992
21
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. 61 54
20145307 2010
22
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. 54 61
10683770 1999
23
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis. 61 54
9647750 1998
24
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. 54 61
9686383 1998
25
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. 54 61
9266377 1997
26
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes. 61 54
8059925 1994
27
Chondrodysplasia punctata with a mild clinical course. 61 54
7914249 1994
28
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. 61 54
8466247 1993
29
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. 54 61
1468458 1992
30
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice. 61
32441337 2020
31
Rapid-cycle deliberate practice: death notification. 61
32472732 2020
32
Using rapid cycle deliberate practice to improve primary and secondary survey in pediatric trauma. 61
32345288 2020
33
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy. 61
31853509 2020
34
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. 61
31769196 2020
35
The type-2 peroxisomal targeting signal. 61
31751594 2020
36
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata. 61
31862688 2020
37
Use of simulation as a needs assessment to develop a focused team leader training curriculum for resuscitation teams. 61
32514384 2020
38
Promoting Teamwork for Rapid Response Teams Through Simulation Training. 61
31644814 2019
39
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. 61
31503224 2019
40
Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment. 61
30667116 2019
41
Rapid Cycle Deliberate Practice (RCDP) as a Method to Improve Airway Management Skills - A Randomized Controlled Simulation Study. 61
31523589 2019
42
Rapid cycle deliberate practice vs. traditional simulation in a resource-limited setting. 61
31438936 2019
43
Improved Team Performance During Pediatric Resuscitations After Rapid Cycle Deliberate Practice Compared With Traditional Debriefing: A Pilot Study. 61
27741071 2019
44
Learners' Experiences During Rapid Cycle Deliberate Practice Simulations: A Qualitative Analysis. 61
30216277 2019
45
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders. 61
30295825 2019
46
Improvement of Immediate Performance in Neonatal Resuscitation Through Rapid Cycle Deliberate Practice Training. 61
29686759 2018
47
Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction. 61
28555889 2017
48
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. 61
29068853 2017
49
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. 61
28742517 2017
50
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. 61
28566232 2017

Variations for Rhizomelic Chondrodysplasia Punctata

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX7 NM_000288.4(PEX7):c.903+1G>CSNV Pathogenic 7785 rs148591292 6:137219380-137219380 6:136898242-136898242
2 PEX5 NM_001131024.1(PEX5):c.643-337dupduplication Pathogenic 190410 rs796051881 12:7354870-7354871 12:7202274-7202275
3 GNPAT NM_014236.4(GNPAT):c.1212T>C (p.Ala404=)SNV Conflicting interpretations of pathogenicity 260360 rs143205045 1:231403582-231403582 1:231267836-231267836
4 AGPS NM_003659.4(AGPS):c.*1880_*1881AT[8]short repeat Conflicting interpretations of pathogenicity 332564 rs59535792 2:178404802-178404805 2:177540074-177540077
5 AGPS NM_003659.4(AGPS):c.*1880_*1881AT[11]short repeat Uncertain significance 332563 rs59535792 2:178404801-178404802 2:177540073-177540074
6 AGPS NM_003659.4(AGPS):c.*1838_*1839AT[12]short repeat Uncertain significance 332551 rs373957026 2:178404759-178404760 2:177540031-177540032
7 AGPS NM_003659.4(AGPS):c.*1860_*1861dupduplication Uncertain significance 332553 rs1553519847 2:178404781-178404782 2:177540053-177540054
8 AGPS NM_003659.4(AGPS):c.*1863_*1864insATGTinsertion Uncertain significance 332556 rs886055183 2:178404785-178404786 2:177540057-177540058
9 AGPS NM_003659.4(AGPS):c.*1868_*1869insCGinsertion Uncertain significance 332560 rs886055185 2:178404790-178404791 2:177540062-177540063
10 AGPS NM_003659.4(AGPS):c.*3911_*3916AGTTTT[1]short repeat Uncertain significance 332586 rs369534713 2:178406830-178406835 2:177542102-177542107
11 GNPAT NM_014236.4(GNPAT):c.1522+15T>CSNV Uncertain significance 296131 rs200561922 1:231406761-231406761 1:231271015-231271015
12 GNPAT NM_014236.4(GNPAT):c.*123A>GSNV Uncertain significance 296139 rs537905640 1:231413411-231413411 1:231277665-231277665
13 AGPS NM_003659.4(AGPS):c.*1811_*1812insAAAAinsertion Uncertain significance 332548 rs138605667 2:178404734-178404735 2:177540006-177540007
14 PEX7 NM_000288.4(PEX7):c.693A>G (p.Val231=)SNV Uncertain significance 828091 6:137191087-137191087 6:136869949-136869949
15 AGPS NM_003659.4(AGPS):c.*1838_*1839AT[10]short repeat Uncertain significance 332552 rs373957026 2:178404760-178404761 2:177540032-177540033
16 AGPS NM_003659.4(AGPS):c.*1862_*1863deldeletion Uncertain significance 332554 rs886055181 2:178404784-178404785 2:177540056-177540057
17 AGPS NM_003659.4(AGPS):c.*1880_*1881AT[7]short repeat Uncertain significance 332565 rs59535792 2:178404802-178404807 2:177540074-177540079
18 AGPS NM_003659.4(AGPS):c.1762A>G (p.Ile588Val)SNV Uncertain significance 332523 rs886055168 2:178386061-178386061 2:177521333-177521333
19 AGPS NM_003659.4(AGPS):c.*467_*475deldeletion Uncertain significance 332531 rs886055171 2:178403387-178403395 2:177538659-177538667
20 AGPS NM_003659.4(AGPS):c.*1836_*1841deldeletion Uncertain significance 332550 rs886055177 2:178404759-178404764 2:177540031-177540036
21 AGPS NM_003659.4(AGPS):c.*1862_*1867deldeletion Uncertain significance 332555 rs886055182 2:178404784-178404789 2:177540056-177540061
22 AGPS NM_003659.4(AGPS):c.*1878_*1883deldeletion Uncertain significance 332561 rs886055186 2:178404800-178404805 2:177540072-177540077
23 AGPS NM_003659.4(AGPS):c.*1878_*1885deldeletion Uncertain significance 332562 rs886055187 2:178404800-178404807 2:177540072-177540079
24 PEX7 NM_000288.3(PEX7):c.-91G>ASNV Uncertain significance 355519 rs772358439 6:137143713-137143713 6:136822575-136822575
25 PEX7 NM_000288.3(PEX7):c.-77T>CSNV Uncertain significance 355521 rs1321472 6:137143727-137143727 6:136822589-136822589
26 AGPS NM_003659.4(AGPS):c.86_91CGGACC[3] (p.29_30PD[3])short repeat Uncertain significance 332511 rs886055162 2:178257597-178257598 2:177392869-177392870
27 AGPS NM_003659.4(AGPS):c.*1105dupduplication Uncertain significance 332541 rs574941020 2:178404020-178404021 2:177539292-177539293
28 AGPS NM_003659.4(AGPS):c.*1866_*1867deldeletion Uncertain significance 332557 rs761041008 2:178404789-178404790 2:177540061-177540062
29 AGPS NM_003659.4(AGPS):c.*1868_*1869GT[7]short repeat Uncertain significance 332558 rs1491154667 2:178404789-178404790 2:177540061-177540062
30 AGPS NM_003659.4(AGPS):c.*5072T>GSNV Uncertain significance 332603 rs552637479 2:178407995-178407995 2:177543267-177543267
31 PEX7 NM_000288.4(PEX7):c.*305_*310deldeletion Uncertain significance 355541 rs886061123 6:137234964-137234969 6:136913826-136913831
32 PEX7 NM_000288.3(PEX7):c.-88T>CSNV Uncertain significance 355520 rs886061115 6:137143716-137143716 6:136822578-136822578
33 AGPS NM_003659.4(AGPS):c.*1713_*1715TGA[1]short repeat Likely benign 332547 rs143451487 2:178404636-178404638 2:177539908-177539910
34 AGPS NM_003659.4(AGPS):c.*4660deldeletion Likely benign 332595 rs144602349 2:178407574-178407574 2:177542846-177542846
35 PEX7 NM_000288.4(PEX7):c.130+48_130+53dupduplication Benign 828090 6:137143980-137143981 6:136822842-136822843
36 AGPS NM_003659.4(AGPS):c.*1814_*1815insAGAAinsertion Benign 332549 rs61052002 2:178404735-178404736 2:177540007-177540008
37 AGPS NM_003659.4(AGPS):c.*3854dupduplication Benign 332585 rs397783598 2:178406769-178406770 2:177542041-177542042
38 AGPS NM_003659.4(AGPS):c.*4516_*4517deldeletion Benign 332593 rs3215354 2:178407439-178407440 2:177542711-177542712
39 PEX7 NM_000288.4(PEX7):c.*257_*258insAGTinsertion Benign 355539 rs1801001 6:137234919-137234920 6:136913781-136913782

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:

36
# 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 11.52 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
2
Show member pathways
11.08 SLC25A17 PHYH GNPAT AGPS ACAA1
3
Show member pathways
10.52 GNPAT AGPS

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 membrane GO:0016020 10.3 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
2 peroxisomal membrane GO:0005778 9.86 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
3 integral component of peroxisomal membrane GO:0005779 9.7 SLC25A17 PEX3 PEX26 PEX2 PEX16 PEX13
4 peroxisomal matrix GO:0005782 9.65 PHYH PEX7 GNPAT AGPS ACAA1
5 peroxisome GO:0005777 9.6 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
6 peroxisomal importomer complex GO:1990429 9.5 PEX14 PEX13 PEX12

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.01 PEX7 PEX5 PEX26 PEX14 PEX13 PEX1
2 protein ubiquitination GO:0016567 10 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3 fatty acid metabolic process GO:0006631 9.85 PHYH HADHB GNPAT ACAA1
4 protein import into peroxisome matrix GO:0016558 9.85 PEX7 PEX6 PEX5 PEX26 PEX2 PEX16
5 fatty acid beta-oxidation GO:0006635 9.8 SLC25A17 PEX7 PEX5 PEX2 HADHB ACAA1
6 neuron migration GO:0001764 9.74 PEX7 PEX5 PEX13
7 peroxisome organization GO:0007031 9.7 PEX7 PEX6 PEX5 PEX3 PEX2 PEX19
8 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
9 very long-chain fatty acid metabolic process GO:0000038 9.63 PEX5 PEX2 ACAA1
10 fatty acid alpha-oxidation GO:0001561 9.61 SLC25A17 PHYH PEX13
11 cellular lipid metabolic process GO:0044255 9.58 PEX5 GNPAT
12 ether lipid biosynthetic process GO:0008611 9.58 PEX7 GNPAT AGPS
13 cerebral cortex cell migration GO:0021795 9.56 PEX5 PEX13
14 protein import into peroxisome matrix, docking GO:0016560 9.54 PEX5 PEX14 PEX13
15 protein targeting to peroxisome GO:0006625 9.53 PHYH PEX7 PEX6 PEX5 PEX26 PEX2
16 peroxisome membrane biogenesis GO:0016557 9.51 PEX3 PEX16
17 microtubule-based peroxisome localization GO:0060152 9.49 PEX13 PEX1
18 protein import into peroxisome matrix, translocation GO:0016561 9.48 PEX6 PEX14

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
2 catalytic activity GO:0003824 9.77 PHYH HADHB GNPAT AGPS ACAA1
3 transferase activity, transferring acyl groups GO:0016746 9.65 HADHB GNPAT ACAA1
4 protein N-terminus binding GO:0047485 9.58 PEX5 PEX19 PEX14
5 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.46 HADHB ACAA1
6 ATPase activity, coupled GO:0042623 9.43 PEX6 PEX1
7 acetyl-CoA C-acyltransferase activity GO:0003988 9.32 HADHB ACAA1
8 acetyl-CoA C-myristoyltransferase activity GO:0050633 9.26 HADHB ACAA1
9 peroxisome membrane targeting sequence binding GO:0033328 9.16 PEX5 PEX19
10 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1

Sources for Rhizomelic Chondrodysplasia Punctata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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