RCDP1
MCID: RHZ011
MIFTS: 52

Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1)

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata, Type 1

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata, Type 1:

Name: Rhizomelic Chondrodysplasia Punctata, Type 1 56 73 13 54 71
Rhizomelic Chondrodysplasia Punctata Type 1 12 24 52 58 29 6 15
Rcdp1 56 12 24 52 73
Peroxisome Biogenesis Disorder 9 56 12 73
Pbd9 56 12 73
Chondrodysplasia Punctata, Rhizomelic Form 56 73
Chondrodystrophia Calcificans Punctata 56 73
Cdpr 56 73
Chondrodysplasia Punctata, Rhizomelic Form; Cdpr 56
Chondrodysplasia Punctata, Rhizomelic, Type 1 39
Peroxisome Biogenesis Disorder 9; Pbd9 56
Rhizomelic Chondrodysplasia Punctata 1 73
Chondrodysplasia Punctata, Rhizomelic 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
majority of children die before age 2


HPO:

31
rhizomelic chondrodysplasia punctata, type 1:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Rhizomelic Chondrodysplasia Punctata, Type 1

OMIM : 56 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 peroxisome biogenesis disorder 1a and rhizomelic chondrodysplasia punctata, type 3, and has symptoms including seizures and muscle spasticity. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 1 is PEX7 (Peroxisomal Biogenesis Factor 7), and among its related pathways/superpathways are Fatty Acyl-CoA Biosynthesis and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and depressed nasal bridge

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.

NIH Rare Diseases : 52 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.

UniProtKB/Swiss-Prot : 73 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.

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 31)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 30.4 PEX6 PEX5 PEX13
2 rhizomelic chondrodysplasia punctata, type 3 29.9 SCP2 PHYH PEX7 PEX5L PEX5 GNPAT
3 rhizomelic chondrodysplasia punctata, type 2 29.5 PHYH PEX7 PEX5L PEX5 PEX13 GNPAT
4 cataract 29.3 PEX7 PEX5 GNPAT AGPS
5 rhizomelic chondrodysplasia punctata 28.5 SCP2 PHYH PEX7 PEX6 PEX5L PEX5
6 chondrodysplasia punctata syndrome 27.8 PHYH PEX7 PEX6 PEX5L PEX5 PEX13
7 adrenoleukodystrophy 27.7 SCP2 PEX7 PEX6 PEX5 PEX13 HSD17B4
8 refsum disease, classic 27.2 SCP2 PHYH PEX7 PEX6 PEX5 PEX13
9 peroxisomal biogenesis disorder 26.6 SCP2 PHYH PEX7 PEX6 PEX5L PEX5
10 peroxisome biogenesis disorder 1b 26.2 SCP2 PHYH PEX7 PEX6 PEX5L PEX5
11 peroxisomal fatty acyl-coa reductase 1 disorder 11.2
12 autosomal recessive disease 10.5
13 peroxisome biogenesis disorder 9b 10.3
14 alacrima, achalasia, and mental retardation syndrome 10.3
15 neonatal respiratory failure 10.3
16 respiratory failure 10.3
17 hepatorenal syndrome 10.3
18 adrenomyeloneuropathy 10.3
19 helix syndrome 10.3
20 pneumonia 10.3
21 chronic polyneuropathy 10.0 PHYH PEX7
22 peroxisomal acyl-coa oxidase deficiency 9.9 SCP2 HSD17B4 ACOX1
23 alpha-methylacyl-coa racemase deficiency 9.9 SCP2 HSD17B4 ACOX1
24 mulibrey nanism 9.9 PEX7 PEX5
25 d-bifunctional protein deficiency 9.7 SCP2 HSD17B4 HADHB ACOX1
26 zellweger spectrum disorder 9.1 PEX6 PEX5 PEX13
27 rhizomelic chondrodysplasia punctata, type 5 9.0 PEX7 PEX5L PEX5 GNPAT AGPS
28 leukodystrophy 8.6 SCP2 PEX6 PEX5 PEX13 HSD17B4 ACOX1
29 neonatal adrenoleukodystrophy 8.5 SCP2 PEX7 PEX6 PEX5 PEX13 ACOX1
30 peroxisomal disease 7.1 SCP2 PHYH PEX7 PEX6 PEX5 PEX13
31 zellweger syndrome 6.7 SCP2 PHYH PEX7 PEX6 PEX5L PEX5

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

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 1:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 depressed nasal bridge 31 HP:0005280
3 microcephaly 31 HP:0000252
4 sensorineural hearing impairment 31 HP:0000407
5 ichthyosis 31 HP:0008064
6 flexion contracture 31 HP:0001371
7 spasticity 31 HP:0001257
8 abnormality of metabolism/homeostasis 31 HP:0001939
9 frontal bossing 31 HP:0002007
10 cleft palate 31 HP:0000175
11 epiphyseal stippling 31 HP:0010655
12 flat face 31 HP:0012368
13 micrognathia 31 HP:0000347
14 alopecia 31 HP:0001596
15 respiratory insufficiency 31 HP:0002093
16 kyphoscoliosis 31 HP:0002751
17 cerebral cortical atrophy 31 HP:0002120
18 upslanted palpebral fissure 31 HP:0000582
19 malar flattening 31 HP:0000272
20 rhizomelia 31 HP:0008905
21 severe short stature 31 HP:0003510
22 developmental cataract 31 HP:0000519
23 coronal cleft vertebrae 31 HP:0003417
24 flared metaphysis 31 HP:0003015
25 delayed cns myelination 31 HP:0002188
26 severe failure to thrive 31 HP:0001525
27 seizure 31 HP:0001250
28 calcific stippling of infantile cartilaginous skeleton 31 HP:0005841

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
mental retardation
cortical atrophy
severe delay in myelination

Skin Nails Hair Skin:
ichthyosis

Head And Neck Mouth:
cleft palate

Respiratory Lung:
respiratory insufficiency

Growth Other:
severe failure to thrive

Head And Neck Ears:
sensorineural deafness

Growth Height:
dwarfism

Head And Neck Eyes:
upward slanting palpebral fissures
congenital cataracts

Head And Neck Head:
microcephaly

Head And Neck Face:
frontal bossing
flat face
micrognathia

Skin Nails Hair Hair:
alopecia

Skeletal Spine:
kyphoscoliosis
coronal cleft of vertebrae

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

Head And Neck Nose:
low nasal bridge

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

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

Clinical features from OMIM:

215100

UMLS symptoms related to Rhizomelic Chondrodysplasia Punctata, Type 1:


seizures, muscle spasticity

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 GNPAT HSD17B4 PEX13 PEX5 PEX5L PEX7
2 growth/size/body region MP:0005378 9.91 ACOX1 GNPAT HADHB HSD17B4 PEX13 PEX5
3 endocrine/exocrine gland MP:0005379 9.87 ACOX1 AGPS GNPAT HSD17B4 PEX13 PEX5
4 homeostasis/metabolism MP:0005376 9.85 ACOX1 AGPS GNPAT HADHB HSD17B4 PEX13
5 liver/biliary system MP:0005370 9.56 ACOX1 HADHB HSD17B4 PEX13 PEX5 PEX7
6 reproductive system MP:0005389 9.17 ACOX1 AGPS GNPAT HSD17B4 PEX5 PEX7

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata, Type 1

Interventional clinical trials:


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

Search 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:

40
Bone, Eye, Brain, Spinal Cord, Heart, Skin

Publications for Rhizomelic Chondrodysplasia Punctata, Type 1

Articles related to Rhizomelic Chondrodysplasia Punctata, Type 1:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Identification of PEX7 as the second gene involved in Refsum disease. 6 61 54 24
12522768 2003
2
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. 54 24 6 61
11781871 2002
3
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 6 56
9090381 1997
4
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. 56 6
9090382 1997
5
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. 56 6
9090383 1997
6
Growth charts for individuals with rhizomelic chondrodysplasia punctata. 56 24
27616591 2017
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 56 24
22871920 2012
8
Natural history of rhizomelic chondrodysplasia punctata. 24 56
12687664 2003
9
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. 24 6
12325024 2002
10
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. 24 56
11170096 2001
11
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. 6 24
10673331 2000
12
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 61 56
26220973 2015
13
Rhizomelic Chondrodysplasia Punctata Type 1 6 61
20301447 2001
14
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. 61 24
29068853 2017
15
Targeted carrier screening for four recessive disorders: high detection rate within a founder population. 24 61
25641760 2015
16
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. 61 24
22052861 2011
17
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 24 61
21465523 2011
18
Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice. 61 24
22163031 2011
19
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. 24 61
20060764 2010
20
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. 24 61
20014169 2010
21
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. 61 24
15824492 2005
22
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. 56
15679822 2005
23
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. 56
12915479 2003
24
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. 6
10083738 1999
25
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 56
7541833 1995
26
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. 56
8597837 1995
27
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. 6
8295403 1993
28
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. 56
1409157 1992
29
Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study. 56
1618493 1992
30
Rhizomelic chondrodysplasia punctata--a new clinical variant. 56
1293391 1992
31
Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? 56
1776629 1991
32
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. 6
1773541 1991
33
A new type of chondrodysplasia punctata associated with peroxisomal dysfunction. 56
1770792 1991
34
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. 56
2208770 1990
35
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. 56
2365812 1990
36
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. 56
3171792 1988
37
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. 56
2419755 1986
38
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. 56
4010717 1985
39
Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. 56
7460383 1981
40
Lethal chondrodysplasia punctata. 56
737958 1978
41
Vitamin K-dependent formation of gamma-carboxyglutamic acid. 56
332061 1977
42
Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants. 56
987909 1976
43
Heterogeneity of Chondrodysplasia punctata. 56
5544780 1971
44
Chondrodystrophia calcificans congenita (dysplasia epiphysalis punctata). Recognition of the clinical picture. 56
5410559 1970
45
Conradi's disease. Chondrodystrophia calcificans congenita, congenital stippled epiphyses. 56
5634939 1968
46
Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata. 56
5923444 1966
47
CHONDRODYSTROPHIA CALCIFICANS CONGENITA; CHONDRODYSPLASIA EPIPHYSIALIS PUNCTATA, STIPPLED EPIPHYSES. 56
14320779 1965
48
[CONTRIBUTION TO CONGENITAL CHONDRODYSTROPHIA CALCIFICANS (CONRADI-HUENERMANN SYNDROME)]. 56
14118591 1963
49
[A CONTRIBUTION TO THE PROBLEM OF CONGENITAL CHONDRODYSTROPHIA CALCIFICANS]. 56
14118593 1963
50
Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis. 56
13974938 1962

Variations for Rhizomelic Chondrodysplasia Punctata, Type 1

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

6 (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX7 NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)SNV Pathogenic 436286 rs1554331461 6:137166770-137166770 6:136845632-136845632
2 PEX7 NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)deletion Pathogenic 436288 rs1554333636 6:137187776-137187776 6:136866638-136866638
3 PEX7 NM_000288.4(PEX7):c.130+1G>ASNV Pathogenic 639671 6:137143934-137143934 6:136822796-136822796
4 PEX7 NM_000288.4(PEX7):c.188+1G>ASNV Pathogenic 813363 6:137146410-137146410 6:136825272-136825272
5 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)SNV Pathogenic 7780 rs1805137 6:137219351-137219351 6:136898213-136898213
6 PEX7 NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)SNV Pathogenic 7783 rs121909153 6:137191088-137191088 6:136869950-136869950
7 PEX7 NM_000288.4(PEX7):c.45_52dup (p.His18fs)duplication Pathogenic 7784 rs63535662 6:137143840-137143841 6:136822702-136822703
8 PEX7 NM_000288.4(PEX7):c.903+1G>CSNV Pathogenic 7785 rs148591292 6:137219380-137219380 6:136898242-136898242
9 PEX7 NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)SNV Pathogenic 7788 rs61753238 6:137143923-137143923 6:136822785-136822785
10 PEX7 NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)SNV Pathogenic 7790 rs61753233 6:137143843-137143843 6:136822705-136822705
11 PEX7 NM_000288.4(PEX7):c.854A>G (p.His285Arg)SNV Pathogenic 38872 rs62653611 6:137219330-137219330 6:136898192-136898192
12 PEX7 NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)SNV Pathogenic/Likely pathogenic 7786 rs121909154 6:137166758-137166758 6:136845620-136845620
13 PEX7 NM_000288.4(PEX7):c.653C>T (p.Ala218Val)SNV Pathogenic/Likely pathogenic 7781 rs121909151 6:137191047-137191047 6:136869909-136869909
14 PEX7 NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)SNV Pathogenic/Likely pathogenic 7782 rs121909152 6:137191043-137191043 6:136869905-136869905
15 PEX7 NM_000288.4(PEX7):c.188+1G>CSNV Pathogenic/Likely pathogenic 188975 rs267608254 6:137146410-137146410 6:136825272-136825272
16 PEX7 NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)SNV Pathogenic/Likely pathogenic 189076 rs61753245 6:137187856-137187856 6:136866718-136866718
17 PEX7 NM_000288.4(PEX7):c.183del (p.Phe61fs)deletion Pathogenic/Likely pathogenic 225436 rs774131564 6:137146400-137146400 6:136825262-136825262
18 PEX7 NM_000288.4(PEX7):c.429del (p.Val144fs)deletion Pathogenic/Likely pathogenic 554785 rs61753248 6:137167222-137167222 6:136846084-136846084
19 PEX7 NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs)short repeat Pathogenic/Likely pathogenic 370629 rs62636519 6:137143807-137143808 6:136822669-136822670
20 PEX7 NM_000288.4(PEX7):c.31_56del (p.Met11fs)deletion Likely pathogenic 371045 rs1057516961 6:137143831-137143856 6:136822693-136822718
21 PEX7 NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)SNV Likely pathogenic 370938 rs1057516882 6:137143863-137143863 6:136822725-136822725
22 PEX7 NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)SNV Likely pathogenic 370746 rs1057516737 6:137143884-137143884 6:136822746-136822746
23 PEX7 NM_000288.4(PEX7):c.130+1G>CSNV Likely pathogenic 370520 rs267608253 6:137143934-137143934 6:136822796-136822796
24 PEX7 NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)SNV Likely pathogenic 370682 rs763514968 6:137147545-137147545 6:136826407-136826407
25 PEX7 NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)SNV Likely pathogenic 371661 rs62653604 6:137147602-137147602 6:136826464-136826464
26 PEX7 NM_000288.4(PEX7):c.339+2T>CSNV Likely pathogenic 371166 rs1057517059 6:137147609-137147609 6:136826471-136826471
27 PEX7 NM_000288.4(PEX7):c.508del (p.Cys170fs)deletion Likely pathogenic 370867 rs1057516827 6:137167300-137167300 6:136846162-136846162
28 PEX7 NM_000288.4(PEX7):c.527-2A>GSNV Likely pathogenic 371524 rs1057517339 6:137187763-137187763 6:136866625-136866625
29 PEX7 NM_000288.4(PEX7):c.545dup (p.Trp183fs)duplication Likely pathogenic 370543 rs1057516574 6:137187782-137187783 6:136866644-136866645
30 PEX7 NM_000288.4(PEX7):c.633+1G>ASNV Likely pathogenic 371080 rs1057516989 6:137187872-137187872 6:136866734-136866734
31 PEX7 NM_000288.4(PEX7):c.736_747+17deldeletion Likely pathogenic 371420 rs1057517257 6:137191128-137191156 6:136869990-136870018
32 PEX7 NM_000288.4(PEX7):c.748-2A>GSNV Likely pathogenic 370873 rs778862698 6:137193334-137193334 6:136872196-136872196
33 PEX7 NM_000288.4(PEX7):c.774_784del (p.Ala259fs)deletion Likely pathogenic 370864 rs1057516824 6:137193358-137193368 6:136872220-136872230
34 PEX7 NM_000288.4(PEX7):c.131-2A>GSNV Likely pathogenic 553298 rs1554328790 6:137146350-137146350 6:136825212-136825212
35 PEX7 NM_000288.4(PEX7):c.806dup (p.Trp270fs)duplication Likely pathogenic 549976 rs1464766327 6:137219280-137219281 6:136898142-136898143
36 PEX7 NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)SNV Likely pathogenic 436287 rs1554333880 6:137191035-137191035 6:136869897-136869897
37 PEX7 NM_000288.4(PEX7):c.817del (p.Ser273fs)deletion Likely pathogenic 554814 rs1554335926 6:137219290-137219290 6:136898152-136898152
38 PEX7 NM_000288.4(PEX7):c.233del (p.Asn78fs)deletion Likely pathogenic 813364 6:137147500-137147500 6:136826362-136826362
39 PEX7 NM_000288.4(PEX7):c.536_537CT[1] (p.Leu180fs)short repeat Likely pathogenic 813365 6:137187774-137187775 6:136866636-136866637
40 PEX7 NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)SNV Likely pathogenic 813366 6:137187830-137187830 6:136866692-136866692
41 PEX7 NM_000288.4(PEX7):c.735dup (p.Arg246Ter)duplication Likely pathogenic 813367 6:137191127-137191128 6:136869989-136869990
42 PEX7 NM_000288.4(PEX7):c.870_871insCAA (p.Gly291_Leu292insGln)insertion Likely pathogenic 813368 6:137219346-137219347 6:136898208-136898209
43 PEX7 NM_000288.4(PEX7):c.189-2A>GSNV Likely pathogenic 555298 rs1554328952 6:137147455-137147455 6:136826317-136826317
44 PEX7 NM_000288.4(PEX7):c.116A>C (p.His39Pro)SNV Likely pathogenic 813362 6:137143919-137143919 6:136822781-136822781
45 PEX7 NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)SNV Likely pathogenic 554436 rs769137963 6:137166786-137166786 6:136845648-136845648
46 PEX7 NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)deletion Likely pathogenic 552148 rs1554335937 6:137219346-137219349 6:136898208-136898211
47 PEX7 NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)SNV Likely pathogenic 188711 rs764346452 6:137166813-137166813 6:136845675-136845675
48 PEX7 NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)SNV Conflicting interpretations of pathogenicity 255746 rs113268723 6:137166790-137166790 6:136845652-136845652
49 PEX7 NM_000288.4(PEX7):c.94C>T (p.Leu32=)SNV Conflicting interpretations of pathogenicity 355526 rs886061118 6:137143897-137143897 6:136822759-136822759
50 PEX7 NM_000288.4(PEX7):c.418-4G>TSNV Conflicting interpretations of pathogenicity 355531 rs199552223 6:137167207-137167207 6:136846069-136846069

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

73
# Symbol AA change Variation ID SNP ID
1 PEX7 p.Ala218Val VAR_007726 rs121909151

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 SCP2 HSD17B4 HADHB ACOX1
2
Show member pathways
11.55 SCP2 HSD17B4 HADHB ACOX1
3 11.28 SCP2 PHYH PEX7 PEX6 PEX5L PEX5
4
Show member pathways
11.18 SCP2 HSD17B4 HADHB ACOX1
5
Show member pathways
11.16 SCP2 PHYH HSD17B4 GNPAT AGPS ACOX1
6
Show member pathways
11.13 SCP2 HADHB
7
Show member pathways
10.73 GNPAT AGPS

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 membrane GO:0016020 10.07 SCP2 PEX6 PEX5L PEX5 PEX13 HSD17B4
2 cytosol GO:0005829 9.96 SCP2 PHYH PEX7 PEX6 PEX5L PEX5
3 mitochondrion GO:0005739 9.8 SCP2 PHYH PEX5 HADHB GNPAT AGPS
4 peroxisomal matrix GO:0005782 9.7 SCP2 PHYH PEX7 HSD17B4 GNPAT AGPS
5 peroxisomal membrane GO:0005778 9.61 PEX7 PEX6 PEX5L PEX5 PEX13 HSD17B4
6 peroxisome GO:0005777 9.32 SCP2 PHYH PEX7 PEX6 PEX5 PEX13

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.87 PHYH HSD17B4 AGPS ACOX1
2 lipid metabolic process GO:0006629 9.86 HSD17B4 HADHB AGPS ACOX1
3 fatty acid metabolic process GO:0006631 9.77 PHYH HSD17B4 HADHB GNPAT ACOX1
4 neuron migration GO:0001764 9.7 PEX7 PEX5 PEX13
5 very long-chain fatty acid metabolic process GO:0000038 9.65 PEX5 HSD17B4 ACOX1
6 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.63 SCP2 HSD17B4 ACOX1
7 alpha-linolenic acid metabolic process GO:0036109 9.61 SCP2 HSD17B4 ACOX1
8 protein import into peroxisome matrix GO:0016558 9.58 PEX7 PEX6 PEX5
9 bile acid biosynthetic process GO:0006699 9.55 SCP2 HSD17B4
10 cellular lipid metabolic process GO:0044255 9.54 PEX5 GNPAT
11 cerebral cortex cell migration GO:0021795 9.51 PEX5 PEX13
12 ether lipid biosynthetic process GO:0008611 9.5 PEX7 GNPAT AGPS
13 fatty acid alpha-oxidation GO:0001561 9.49 PHYH PEX13
14 peroxisome organization GO:0007031 9.46 SCP2 PEX7 PEX6 PEX5
15 protein import into peroxisome matrix, docking GO:0016560 9.43 PEX5L PEX5 PEX13
16 fatty acid beta-oxidation GO:0006635 9.43 SCP2 PEX7 PEX5 HSD17B4 HADHB ACOX1
17 protein targeting to peroxisome GO:0006625 9.32 SCP2 PHYH PEX7 PEX6 PEX5 PEX13

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.81 PHYH HSD17B4 AGPS ACOX1
2 catalytic activity GO:0003824 9.65 SCP2 PHYH HADHB GNPAT AGPS
3 transferase activity, transferring acyl groups GO:0016746 9.63 SCP2 HADHB GNPAT
4 flavin adenine dinucleotide binding GO:0050660 9.52 AGPS ACOX1
5 FAD binding GO:0071949 9.49 AGPS ACOX1
6 small GTPase binding GO:0031267 9.48 PEX5L PEX5
7 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.43 SCP2 HADHB
8 enoyl-CoA hydratase activity GO:0004300 9.4 HSD17B4 HADHB
9 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.37 HSD17B4 HADHB
10 acetyl-CoA C-acyltransferase activity GO:0003988 9.32 SCP2 HADHB
11 peroxisome targeting sequence binding GO:0000268 9.16 PEX5L PEX5
12 acetyl-CoA C-myristoyltransferase activity GO:0050633 8.96 SCP2 HADHB
13 peroxisome matrix targeting signal-1 binding GO:0005052 8.62 PEX5L PEX5

Sources for Rhizomelic Chondrodysplasia Punctata, Type 1

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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