MCID: RHZ015
MIFTS: 36

Rhizomelic Chondrodysplasia Punctata, Type 5

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal 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 57 75
Rhizomelic Chondrodysplasia Punctata Type 5 12 59 29 6 15
Rcdp5 57 12 75
Rhizomelic Chondrodysplasia Punctata 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
rhizomelic chondrodysplasia punctata, type 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Rhizomelic Chondrodysplasia Punctata, Type 5

OMIM : 57 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 microcephaly and congenital cataract

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Cardiovascular Heart:
sinus tachycardia

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

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
Head And Neck Eyes:
vertical nystagmus
congenital cataracts

Growth Weight:
low weight

Skeletal Hands:
swan neck deformity


Clinical features from OMIM:

616716

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 5:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 congenital cataract 32 HP:0000519
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 hyporeflexia 32 HP:0001265
6 muscle weakness 32 HP:0001324
7 pes cavus 32 HP:0001761
8 talipes equinovarus 32 HP:0001762
9 asthma 32 HP:0002099
10 broad-based gait 32 HP:0002136
11 coxa vara 32 HP:0002812
12 thoracic scoliosis 32 HP:0002943
13 metaphyseal cupping 32 HP:0003021
14 metaphyseal irregularity 32 HP:0003025
15 generalized amyotrophy 32 HP:0003700
16 short stature 32 HP:0004322
17 decreased body weight 32 HP:0004325
18 peripheral neuropathy 32 HP:0009830
19 vertical nystagmus 32 HP:0010544
20 intellectual disability, severe 32 HP:0010864
21 sinus tachycardia 32 HP:0011703
22 short femoral neck 32 HP:0100864

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 29 PEX5

Anatomical Context for Rhizomelic Chondrodysplasia Punctata, Type 5

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

41
Bone, Eye

Publications for Rhizomelic Chondrodysplasia Punctata, Type 5

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

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 9.02 AGPS FAR1 GNPAT PEX5 PEX5L

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 9.4 PEX5 PEX7
2 fatty acid beta-oxidation GO:0006635 9.37 PEX5 PEX7
3 peroxisome organization GO:0007031 9.32 PEX5 PEX7
4 cellular lipid metabolic process GO:0044255 9.26 GNPAT PEX5
5 protein import into peroxisome matrix GO:0016558 9.16 PEX5 PEX7
6 protein import into peroxisome matrix, docking GO:0016560 8.96 PEX5 PEX5L
7 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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