RCDP5
MCID: RHZ015
MIFTS: 37

Rhizomelic Chondrodysplasia Punctata, Type 5 (RCDP5)

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata, Type 5

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata, Type 5:

Name: Rhizomelic Chondrodysplasia Punctata, Type 5 58 76
Rhizomelic Chondrodysplasia Punctata Type 5 12 60 30 6 15
Rcdp5 58 12 76
Rhizomelic Chondrodysplasia Punctata 5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 3 sibs and 1 unrelated patient of pakistani origin (last curated december 2015)


HPO:

33
rhizomelic chondrodysplasia punctata, type 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Rhizomelic Chondrodysplasia Punctata, Type 5

OMIM : 58 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 (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100. (616716)

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, Type 5, also known as rhizomelic chondrodysplasia punctata type 5, is related to rhizomelic chondrodysplasia punctata and chondrodysplasia punctata syndrome. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 5 is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are triacylglycerol biosynthesis and Peroxisome. Affiliated tissues include bone and eye, and related phenotypes are seizures and muscle weakness

Disease Ontology : 12 A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.

UniProtKB/Swiss-Prot : 76 Rhizomelic chondrodysplasia punctata 5: A form of rhizomelic chondrodysplasia punctata, a disease 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.

Related Diseases for Rhizomelic Chondrodysplasia Punctata, Type 5

Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata, Type 5:



Diseases related to Rhizomelic Chondrodysplasia Punctata, Type 5

Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata, Type 5

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 5:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 muscle weakness 33 HP:0001324
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 short stature 33 HP:0004322
6 intellectual disability, severe 33 HP:0010864
7 sensory neuropathy 33 HP:0000763
8 peripheral neuropathy 33 HP:0009830
9 pes cavus 33 HP:0001761
10 talipes equinovarus 33 HP:0001762
11 asthma 33 HP:0002099
12 hyporeflexia 33 HP:0001265
13 coxa vara 33 HP:0002812
14 decreased body weight 33 HP:0004325
15 generalized amyotrophy 33 HP:0003700
16 thoracic scoliosis 33 HP:0002943
17 sinus tachycardia 33 HP:0011703
18 broad-based gait 33 HP:0002136
19 short femoral neck 33 HP:0100864
20 vertical nystagmus 33 HP:0010544
21 metaphyseal irregularity 33 HP:0003025
22 metaphyseal cupping 33 HP:0003021
23 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
intellectual disability, severe
hyporeflexia
broad-based gait
delayed psychomotor development
more
Head And Neck Head:
microcephaly

Neurologic Peripheral Nervous System:
peripheral neuropathy

Skeletal Feet:
pes cavus
pes equinus

Skeletal Spine:
thoracic scoliosis
thoracic lordosis
short pedicles
punctate calcifications around the hips
compression fractures

Head And Neck Eyes:
vertical nystagmus
congenital cataracts

Respiratory Airways:
bronchial asthma
frequent airway infections

Skin Nails Hair Skin:
palmoplantar keratodermia

Muscle Soft Tissue:
muscle weakness
generalized muscle atrophy

Growth Height:
short stature

Growth Other:
growth delay

Skeletal Limbs:
coxa vara
short femoral neck
metaphyseal cupping
irregular metaphyses
shortening of the humeri, mild
more
Cardiovascular Heart:
sinus tachycardia

Growth Weight:
low weight

Skeletal Hands:
swan neck deformity

Clinical features from OMIM:

616716

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 AGPS GNPAT PEX5 PEX7 PHEX

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata, Type 5

Search Clinical Trials , NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata, Type 5

Genetic Tests for Rhizomelic Chondrodysplasia Punctata, Type 5

Genetic tests related to Rhizomelic Chondrodysplasia Punctata, Type 5:

# Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata Type 5 30 PEX5

Anatomical Context for Rhizomelic Chondrodysplasia Punctata, Type 5

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata, Type 5:

42
Bone, Eye

Publications for Rhizomelic Chondrodysplasia Punctata, Type 5

Articles related to Rhizomelic Chondrodysplasia Punctata, Type 5:

# Title Authors Year
1
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015

Variations for Rhizomelic Chondrodysplasia Punctata, Type 5

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata, Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX5 NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs) duplication Pathogenic rs796051881 GRCh38 Chromosome 12, 7202275: 7202275
2 PEX5 NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs) duplication Pathogenic rs796051881 GRCh37 Chromosome 12, 7354871: 7354871
3 PEX5 NM_001131025.1(PEX5): c.1814G> A (p.Ser605Asn) single nucleotide variant Uncertain significance rs146567534 GRCh37 Chromosome 12, 7362713: 7362713
4 PEX5 NM_001131025.1(PEX5): c.1814G> A (p.Ser605Asn) single nucleotide variant Uncertain significance rs146567534 GRCh38 Chromosome 12, 7210117: 7210117

Expression for Rhizomelic Chondrodysplasia Punctata, Type 5

Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata, Type 5.

Pathways for Rhizomelic Chondrodysplasia Punctata, Type 5

Pathways related to Rhizomelic Chondrodysplasia Punctata, Type 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.1 AGPS GNPAT
2 11.02 AGPS FAR1 GNPAT PEX5 PEX5L PEX7
3
Show member pathways
10.88 AGPS GNPAT
4
Show member pathways
10.32 AGPS GNPAT

GO Terms for Rhizomelic Chondrodysplasia Punctata, Type 5

Cellular components related to Rhizomelic Chondrodysplasia Punctata, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisomal matrix GO:0005782 9.46 AGPS FAR1 GNPAT PEX7
2 peroxisome GO:0005777 9.35 AGPS FAR1 GNPAT PEX5 PEX7
3 peroxisomal membrane GO:0005778 9.1 AGPS FAR1 GNPAT PEX5 PEX5L PEX7

Biological processes related to Rhizomelic Chondrodysplasia Punctata, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.43 PEX5 PEX7
2 fatty acid beta-oxidation GO:0006635 9.4 PEX5 PEX7
3 cellular lipid metabolic process GO:0044255 9.37 GNPAT PEX5
4 peroxisome organization GO:0007031 9.32 PEX5 PEX7
5 protein import into peroxisome matrix GO:0016558 9.26 PEX5 PEX7
6 protein targeting to peroxisome GO:0006625 9.26 AGPS GNPAT PEX5 PEX7
7 protein import into peroxisome matrix, docking GO:0016560 9.16 PEX5 PEX5L
8 ether lipid biosynthetic process GO:0008611 8.92 AGPS FAR1 GNPAT PEX7

Molecular functions related to Rhizomelic Chondrodysplasia Punctata, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 9.16 PEX5 PEX5L
2 peroxisome targeting sequence binding GO:0000268 8.96 PEX5 PEX5L
3 peroxisome matrix targeting signal-1 binding GO:0005052 8.62 PEX5 PEX5L

Sources for Rhizomelic Chondrodysplasia Punctata, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....