RCDP5
MCID: RHZ015
MIFTS: 35

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 56 73
Rhizomelic Chondrodysplasia Punctata Type 5 12 58 29 6 15
Rcdp5 56 12 73
Rhizomelic Chondrodysplasia Punctata 5 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
rhizomelic chondrodysplasia punctata, type 5:
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 5

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 (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 rhizomelic chondrodysplasia punctata, type 1. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 5 is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Acyl chain remodelling of PE and triacylglycerol biosynthesis. Affiliated tissues include bone and eye, and related phenotypes are global developmental delay and microcephaly

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 : 73 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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 microcephaly 31 HP:0000252
3 short stature 31 HP:0004322
4 muscle weakness 31 HP:0001324
5 intellectual disability, severe 31 HP:0010864
6 sensory neuropathy 31 HP:0000763
7 peripheral neuropathy 31 HP:0009830
8 talipes equinovarus 31 HP:0001762
9 asthma 31 HP:0002099
10 pes cavus 31 HP:0001761
11 hyporeflexia 31 HP:0001265
12 coxa vara 31 HP:0002812
13 decreased body weight 31 HP:0004325
14 broad-based gait 31 HP:0002136
15 sinus tachycardia 31 HP:0011703
16 generalized amyotrophy 31 HP:0003700
17 developmental cataract 31 HP:0000519
18 short femoral neck 31 HP:0100864
19 metaphyseal cupping 31 HP:0003021
20 metaphyseal irregularity 31 HP:0003025
21 thoracic scoliosis 31 HP:0002943
22 vertical nystagmus 31 HP:0010544
23 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
intellectual disability, severe
hyporeflexia
broad-based gait
delayed psychomotor development
more
Growth Height:
short stature

Neurologic Peripheral Nervous System:
peripheral neuropathy

Skeletal Feet:
pes cavus
pes equinus

Cardiovascular Heart:
sinus tachycardia

Head And Neck Eyes:
vertical nystagmus
congenital cataracts

Respiratory Airways:
bronchial asthma
frequent airway infections

Skin Nails Hair Skin:
palmoplantar keratodermia

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
muscle weakness
generalized muscle atrophy

Growth Other:
growth delay

Skeletal Limbs:
coxa vara
short femoral neck
metaphyseal cupping
irregular metaphyses
shortening of the humeri, mild
more
Skeletal Spine:
thoracic scoliosis
thoracic lordosis
short pedicles
punctate calcifications around the hips
compression fractures

Growth Weight:
low weight

Skeletal Hands:
swan neck deformity

Clinical features from OMIM:

616716

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata, Type 5

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 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 29 PEX5

Anatomical Context for Rhizomelic Chondrodysplasia Punctata, Type 5

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

40
Bone, Eye

Publications for Rhizomelic Chondrodysplasia Punctata, Type 5

Articles related to Rhizomelic Chondrodysplasia Punctata, Type 5:

# Title Authors PMID Year
1
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 6 56 61
26220973 2015
2
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. 56
15679822 2005

Variations for Rhizomelic Chondrodysplasia Punctata, Type 5

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX5 NM_001131024.1(PEX5):c.643-337dupduplication Pathogenic 190410 rs796051881 12:7354870-7354871 12:7202274-7202275
2 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn)SNV Uncertain significance 194614 rs146567534 12:7362713-7362713 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
11.52 GNPAT AGPS
2
Show member pathways
11.1 GNPAT AGPS
3 11.02 PEX7 PEX5L PEX5 GNPAT FAR1 AGPS
4
Show member pathways
10.88 GNPAT AGPS
5
Show member pathways
10.32 GNPAT AGPS

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 PEX7 GNPAT FAR1 AGPS
2 peroxisome GO:0005777 9.35 PEX7 PEX5 GNPAT FAR1 AGPS
3 peroxisomal membrane GO:0005778 9.1 PEX7 PEX5L PEX5 GNPAT FAR1 AGPS

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

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 PEX5L PEX5
2 peroxisome targeting sequence binding GO:0000268 8.96 PEX5L PEX5
3 peroxisome matrix targeting signal-1 binding GO:0005052 8.62 PEX5L PEX5

Sources for Rhizomelic Chondrodysplasia Punctata, Type 5

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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