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RCP
MCID: RHZ001
MIFTS: 57

Rhizomelic Chondrodysplasia Punctata (RCP)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

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MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 12 20 43 58 36 29 6 15
Chondrodysplasia Punctata, Rhizomelic 43 44 39 70
Rcdp 20 43 58
Chondrodysplasia Punctata, Rhizomelic Form 12
Chondrodysplasia Punctata Rhizomelic 54
Rcp 43

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
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 44 D018902
NCIt 50 C85047
SNOMED-CT 67 56692003
ICD10 32 E71.540
MESH via Orphanet 45 D018902
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 71 C0282529
Orphanet 58 ORPHA177
UMLS 70 C0282529
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Summaries for Rhizomelic Chondrodysplasia Punctata

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MedlinePlus Genetics : 43 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 3 and rhizomelic chondrodysplasia punctata, type 5. 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. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include eye, heart and retina, and related phenotypes are scoliosis and cataract

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.

GARD : 20 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 : 73 Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic... more...

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Related Diseases for Rhizomelic Chondrodysplasia Punctata

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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 141)
# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata, type 3 33.5 PHYH PEX7 PEX5 GNPAT AGPS
2 rhizomelic chondrodysplasia punctata, type 5 33.4 PEX7 PEX5 GNPAT AGPS
3 rhizomelic chondrodysplasia punctata, type 2 33.3 PHYH PEX7 PEX5 PEX16 GNPAT AGPS
4 rhizomelic chondrodysplasia punctata, type 1 33.3 PHYH PEX7 PEX6 PEX5 PEX13 HADHB
5 peroxisome biogenesis disorder 1a 31.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
6 chondrodysplasia punctata syndrome 31.2 PHYH PEX7 PEX6 PEX5 PEX26 PEX2
7 peroxisome biogenesis disorder 1b 30.9 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
8 neonatal adrenoleukodystrophy 30.1 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
9 refsum disease, classic 30.0 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
10 adrenoleukodystrophy 29.8 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
11 peroxisomal disease 29.8 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
12 peroxisomal biogenesis disorder 29.6 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
13 leukodystrophy 29.6 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
14 zellweger syndrome 29.5 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
15 peroxisome biogenesis disorder 9b 11.5
16 peroxisomal fatty acyl-coa reductase 1 disorder 11.4
17 non-rhizomelic chondrodysplasia punctata 11.4
18 peroxisome biogenesis disorder 2a 11.3
19 peroxisome biogenesis disorder 3a 11.3
20 peroxisome biogenesis disorder 4a 11.3
21 peroxisome biogenesis disorder 5a 11.3
22 peroxisome biogenesis disorder 6a 11.3
23 peroxisome biogenesis disorder 7a 11.3
24 peroxisome biogenesis disorder 8a 11.3
25 peroxisome biogenesis disorder 10a 11.3
26 peroxisome biogenesis disorder 11a 11.3
27 peroxisome biogenesis disorder 12a 11.3
28 peroxisome biogenesis disorder 13a 11.3
29 cataract 10.8
30 autosomal recessive disease 10.7
31 microcephaly 10.5
32 osteochondrodysplasia 10.5
33 spinal stenosis 10.4
34 adrenomyeloneuropathy 10.4
35 tetralogy of fallot 10.3
36 alacrima, achalasia, and mental retardation syndrome 10.3
37 congenital contractures 10.3
38 spasticity 10.3
39 chromosomal triplication 10.3
40 encephalitozoonosis 10.3 PHYH PEX19
41 chronic polyneuropathy 10.3 PHYH PEX7
42 hypomagnesemia 1, intestinal 10.2 PEX26 PEX12 PEX1
43 hepatorenal syndrome 10.2
44 mulibrey nanism 10.2 PEX7 PEX5 PEX1
45 alpha-methylacyl-coa racemase deficiency 10.2 PEX6 PEX16
46 acatalasemia 10.2 SLC25A17 PEX3 PEX19
47 keratosis follicularis spinulosa decalvans 10.2 PEX3 PEX19 PEX16 ACAA1
48 otitis media 10.2
49 3-methylglutaconic aciduria, type iii 10.2
50 sjogren-larsson syndrome 10.2

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



Diseases related to Rhizomelic Chondrodysplasia Punctata
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Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata

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Human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
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 epiphyseal stippling 58 31 hallmark (90%) Very frequent (99-80%) HP:0010655
8 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 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 9.44 AGPS GNPAT HADHB MVK PEX1 PEX10
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Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

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Drugs for Rhizomelic Chondrodysplasia Punctata (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

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 Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children Recruiting NCT04569162
3 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
4 Just-In-Time Rapid Cycle Deliberate Practice Simulation Intubation Training Among Novice Pediatric Anesthesia Trainees: A Randomized Control Study Recruiting NCT04472195

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Cochrane evidence based reviews: chondrodysplasia punctata, rhizomelic

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Genetic Tests for Rhizomelic Chondrodysplasia Punctata

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Genetic tests related to Rhizomelic Chondrodysplasia Punctata:

# Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata 29
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Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

40
Eye, Heart, Retina, Ovary, Spinal Cord, Kidney, Skin
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Publications for Rhizomelic Chondrodysplasia Punctata

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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 262)
# Title Authors PMID Year
1
Identification of PEX7 as the second gene involved in Refsum disease. 54 6 61
12522768 2003
2
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. 61 6 54
12325024 2002
3
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. 6 54 61
10673331 2000
4
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. 61 54 6
10083738 1999
5
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 6 54 61
9090381 1997
6
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. 61 54 6
9090383 1997
7
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. 61 6 54
7530787 1994
8
Congenital heart defects common in rhizomelic chondrodysplasia punctata. 6 61
26408048 2016
9
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 6 61
26220973 2015
10
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. 6 61
26587300 2015
11
Rhizomelic chondrodysplasia punctata and cardiac pathology. 61 6
23572185 2013
12
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. 61 6
21990100 2012
13
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 6 61
21465523 2011
14
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
15
Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells. 61 6
11756410 2002
16
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. 61 6
9536089 1998
17
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. 61 6
9553082 1998
18
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. 61 6
9090382 1997
19
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. 6 61
8295403 1993
20
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. 61 6
1773541 1991
21
Growth charts for individuals with rhizomelic chondrodysplasia punctata. 61 20
27616591 2017
22
PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature. 6
25851898 2015
23
Using whole-exome sequencing to identify inherited causes of autism. 6
23352163 2013
24
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7. 6
22057399 2011
25
Phenotype of adult Refsum disease due to a defect in peroxin 7. 6
17325280 2007
26
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). 6
14974078 2004
27
Impaired membrane traffic in defective ether lipid biosynthesis. 6
11152660 2001
28
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. 6
9843043 1998
29
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. 6
7807941 1994
30
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. 6
1405476 1992
31
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. 61 54
20145307 2010
32
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts. 54 61
10683770 1999
33
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. 54 61
9647750 1998
34
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. 61 54
9686383 1998
35
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. 61 54
9266377 1997
36
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes. 61 54
8059925 1994
37
Chondrodysplasia punctata with a mild clinical course. 61 54
7914249 1994
38
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. 61 54
8466247 1993
39
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. 54 61
1468458 1992
40
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. 61
33586206 2021
41
General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report. 61
33161810 2021
42
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. 61
33337545 2020
43
Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC. 61
33147667 2020
44
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice. 61
32441337 2020
45
Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report. 61
32748967 2020
46
Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice. 61
32692545 2020
47
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy. 61
31853509 2020
48
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. 61
31769196 2020
49
The type-2 peroxisomal targeting signal. 61
31751594 2020
50
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata. 61
31862688 2020
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Variations for Rhizomelic Chondrodysplasia Punctata

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ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

6 (show top 50) (show all 399)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNPAT NM_014236.4(GNPAT):c.632G>A (p.Arg211His) SNV Pathogenic 6841 rs121434439 GRCh37: 1:231401102-231401102
GRCh38: 1:231265356-231265356
2 GNPAT NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) SNV Pathogenic 6842 rs121434440 GRCh37: 1:231401101-231401101
GRCh38: 1:231265355-231265355
3 GNPAT NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs) Duplication Pathogenic 6843 rs1558334625 GRCh37: 1:231401835-231401836
GRCh38: 1:231266089-231266090
4 GNPAT NM_014236.4(GNPAT):c.780del (p.Asn261fs) Deletion Pathogenic 6844 rs1571950208 GRCh37: 1:231401767-231401767
GRCh38: 1:231266021-231266021
5 GNPAT NM_014236.4(GNPAT):c.1575del (p.Phe525fs) Deletion Pathogenic 6845 rs1571957148 GRCh37: 1:231408110-231408110
GRCh38: 1:231272364-231272364
6 PEX7 NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) SNV Pathogenic 7783 rs121909153 GRCh37: 6:137191088-137191088
GRCh38: 6:136869950-136869950
7 PEX7 NM_000288.4(PEX7):c.45_52dup (p.His18fs) Duplication Pathogenic 7784 rs63535662 GRCh37: 6:137143840-137143841
GRCh38: 6:136822702-136822703
8 PEX7 NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) SNV Pathogenic 7790 rs61753233 GRCh37: 6:137143843-137143843
GRCh38: 6:136822705-136822705
9 PEX7 NM_000288.4(PEX7):c.854A>G (p.His285Arg) SNV Pathogenic 38872 rs62653611 GRCh37: 6:137219330-137219330
GRCh38: 6:136898192-136898192
10 PEX7 NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) SNV Pathogenic 7788 rs61753238 GRCh37: 6:137143923-137143923
GRCh38: 6:136822785-136822785
11 PEX7 NM_000288.4(PEX7):c.188+1G>C SNV Pathogenic 188975 rs267608254 GRCh37: 6:137146410-137146410
GRCh38: 6:136825272-136825272
12 PEX5 NM_001131024.1(PEX5):c.643-337dup Duplication Pathogenic 190410 rs796051881 GRCh37: 12:7354870-7354871
GRCh38: 12:7202274-7202275
13 AGPS NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) SNV Pathogenic 35469 rs387907214 GRCh37: 2:178386002-178386002
GRCh38: 2:177521274-177521274
14 GNPAT NM_014236.4(GNPAT):c.1937+5G>A SNV Pathogenic 35468 rs1571960363 GRCh37: 1:231411249-231411249
GRCh38: 1:231275503-231275503
15 GNPAT NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs) Deletion Pathogenic 35467 rs1571955597 GRCh37: 1:231406653-231406654
GRCh38: 1:231270907-231270908
16 GNPAT NM_014236.4(GNPAT):c.1280-3T>G SNV Pathogenic 35466 rs1571955307 GRCh37: 1:231406501-231406501
GRCh38: 1:231270755-231270755
17 AGPS NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) SNV Pathogenic 6647 rs121434413 GRCh37: 2:178364389-178364389
GRCh38: 2:177499661-177499661
18 AGPS NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) SNV Pathogenic 6646 rs121434412 GRCh37: 2:178326676-178326676
GRCh38: 2:177461948-177461948
19 AGPS NM_003659.4(AGPS):c.1256G>A (p.Arg419His) SNV Pathogenic 6645 rs121434411 GRCh37: 2:178357898-178357898
GRCh38: 2:177493170-177493170
20 PEX7 NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer) Deletion Pathogenic 436288 rs1554333636 GRCh37: 6:137187776-137187776
GRCh38: 6:136866638-136866638
21 PEX7 NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) SNV Pathogenic 436286 rs1554331461 GRCh37: 6:137166770-137166770
GRCh38: 6:136845632-136845632
22 PEX7 NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) SNV Pathogenic 7788 rs61753238 GRCh37: 6:137143923-137143923
GRCh38: 6:136822785-136822785
23 PEX7 NM_000288.4(PEX7):c.130+1G>A SNV Pathogenic 639671 rs267608253 GRCh37: 6:137143934-137143934
GRCh38: 6:136822796-136822796
24 PEX7 NM_000288.4(PEX7):c.183del (p.Phe61fs) Deletion Pathogenic 225436 rs774131564 GRCh37: 6:137146400-137146400
GRCh38: 6:136825262-136825262
25 PEX7 NM_000288.4(PEX7):c.188+1G>A SNV Pathogenic 813363 rs267608254 GRCh37: 6:137146410-137146410
GRCh38: 6:136825272-136825272
26 PEX7 NM_000288.4(PEX7):c.429del (p.Val144fs) Deletion Pathogenic 554785 rs61753248 GRCh37: 6:137167222-137167222
GRCh38: 6:136846084-136846084
27 AGPS NM_003659.4(AGPS):c.1273C>T (p.Gln425Ter) SNV Pathogenic 1032144 GRCh37: 2:178357915-178357915
GRCh38: 2:177493187-177493187
28 GNPAT NM_014236.4(GNPAT):c.697-2A>G SNV Pathogenic 1032612 GRCh37: 1:231401456-231401456
GRCh38: 1:231265710-231265710
29 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV Pathogenic 7780 rs1805137 GRCh37: 6:137219351-137219351
GRCh38: 6:136898213-136898213
30 PEX7 NM_000288.4(PEX7):c.903+1G>C SNV Pathogenic 7785 rs148591292 GRCh37: 6:137219380-137219380
GRCh38: 6:136898242-136898242
31 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV Pathogenic 7780 rs1805137 GRCh37: 6:137219351-137219351
GRCh38: 6:136898213-136898213
32 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV Pathogenic 7780 rs1805137 GRCh37: 6:137219351-137219351
GRCh38: 6:136898213-136898213
33 PEX7 NM_000288.4(PEX7):c.903+1G>C SNV Pathogenic 7785 rs148591292 GRCh37: 6:137219380-137219380
GRCh38: 6:136898242-136898242
34 PEX7 NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs) Microsatellite Pathogenic/Likely pathogenic 370629 rs62636519 GRCh37: 6:137143807-137143808
GRCh38: 6:136822669-136822670
35 PEX7 NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) SNV Pathogenic/Likely pathogenic 7786 rs121909154 GRCh37: 6:137166758-137166758
GRCh38: 6:136845620-136845620
36 PEX7 NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) SNV Pathogenic/Likely pathogenic 189076 rs61753245 GRCh37: 6:137187856-137187856
GRCh38: 6:136866718-136866718
37 PEX7 NM_000288.4(PEX7):c.653C>T (p.Ala218Val) SNV Pathogenic/Likely pathogenic 7781 rs121909151 GRCh37: 6:137191047-137191047
GRCh38: 6:136869909-136869909
38 PEX7 NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) SNV Pathogenic/Likely pathogenic 7782 rs121909152 GRCh37: 6:137191043-137191043
GRCh38: 6:136869905-136869905
39 PEX7 NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) SNV Likely pathogenic 188918 rs61753236 GRCh37: 6:137143877-137143877
GRCh38: 6:136822739-136822739
40 PEX7 NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) SNV Likely pathogenic 188711 rs764346452 GRCh37: 6:137166813-137166813
GRCh38: 6:136845675-136845675
41 PEX7 NM_000288.4(PEX7):c.527-2A>G SNV Likely pathogenic 371524 rs1057517339 GRCh37: 6:137187763-137187763
GRCh38: 6:136866625-136866625
42 PEX7 NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) SNV Likely pathogenic 371661 rs62653604 GRCh37: 6:137147602-137147602
GRCh38: 6:136826464-136826464
43 PEX7 NM_000288.4(PEX7):c.545dup (p.Trp183fs) Duplication Likely pathogenic 370543 rs1057516574 GRCh37: 6:137187782-137187783
GRCh38: 6:136866644-136866645
44 PEX7 NM_000288.4(PEX7):c.633+1G>A SNV Likely pathogenic 371080 rs1057516989 GRCh37: 6:137187872-137187872
GRCh38: 6:136866734-136866734
45 PEX7 NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) SNV Likely pathogenic 370746 rs1057516737 GRCh37: 6:137143884-137143884
GRCh38: 6:136822746-136822746
46 PEX7 NM_000288.4(PEX7):c.183del (p.Phe61fs) Deletion Likely pathogenic 225436 rs774131564 GRCh37: 6:137146400-137146400
GRCh38: 6:136825262-136825262
47 PEX7 NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) SNV Likely pathogenic 436287 rs1554333880 GRCh37: 6:137191035-137191035
GRCh38: 6:136869897-136869897
48 PEX7 NM_000288.4(PEX7):c.806dup (p.Trp270fs) Duplication Likely pathogenic 549976 rs1464766327 GRCh37: 6:137219280-137219281
GRCh38: 6:136898142-136898143
49 PEX7 NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) SNV Likely pathogenic 554436 rs769137963 GRCh37: 6:137166786-137166786
GRCh38: 6:136845648-136845648
50 PEX7 NM_000288.4(PEX7):c.429del (p.Val144fs) Deletion Likely pathogenic 554785 rs61753248 GRCh37: 6:137167222-137167222
GRCh38: 6:136846084-136846084
Sources

Expression for Rhizomelic Chondrodysplasia Punctata

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

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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
Peroxisome 36
11.51 SLC25A17 PHYH PEX7 PEX6 PEX5 PEX3
2
Peroxisomal lipid metabolism 65
Show member pathways
 11.08 SLC25A17 PHYH GNPAT AGPS ACAA1
3
Glycerophospholipid Biosynthetic Pathway 1
Show member pathways
 10.52 GNPAT AGPS
Sources

GO Terms for Rhizomelic Chondrodysplasia Punctata

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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 9.76 SLC25A17 PEX3 PEX26 PEX2 PEX16 PEX13
4 peroxisomal matrix GO:0005782 9.73 PHYH PEX7 PEX5 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 very long-chain fatty acid metabolic process GO:0000038 9.67 PEX5 PEX2 ACAA1
9 fatty acid alpha-oxidation GO:0001561 9.65 SLC25A17 PHYH PEX13
10 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
11 ether lipid biosynthetic process GO:0008611 9.63 PEX7 GNPAT AGPS
12 protein import into peroxisome matrix, docking GO:0016560 9.61 PEX5 PEX14 PEX13
13 cellular lipid metabolic process GO:0044255 9.58 PEX5 GNPAT
14 peroxisome membrane biogenesis GO:0016557 9.58 PEX3 PEX19 PEX16
15 cerebral cortex cell migration GO:0021795 9.56 PEX5 PEX13
16 protein import into peroxisome matrix, translocation GO:0016561 9.54 PEX6 PEX5 PEX14
17 protein targeting to peroxisome GO:0006625 9.53 PHYH PEX7 PEX6 PEX5 PEX26 PEX2
18 microtubule-based peroxisome localization GO:0060152 9.51 PEX13 PEX1

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 10.3 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 9.63 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 9.43 HADHB ACAA1
6 acetyl-CoA C-acyltransferase activity GO:0003988 9.26 HADHB ACAA1
7 protein C-terminus binding GO:0008022 9.17 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10
8 acetyl-CoA C-myristoyltransferase activity GO:0050633 9.16 HADHB ACAA1
9 peroxisome membrane targeting sequence binding GO:0033328 8.96 PEX5 PEX19
Sources

Sources for Rhizomelic Chondrodysplasia Punctata

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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