RCDP2
MCID: RHZ014
MIFTS: 45

Rhizomelic Chondrodysplasia Punctata, Type 2 (RCDP2)

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata, Type 2

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata, Type 2:

Name: Rhizomelic Chondrodysplasia Punctata, Type 2 56 73 71
Rhizomelic Chondrodysplasia Punctata Type 2 12 52 58 29 6 15
Dihydroxyacetonephosphate Acyltransferase Deficiency 56 12 52 73 54
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency 56 12 52 73
Dhapat Deficiency 56 12 52 73
Rcdp2 56 12 52 73
Chondrodysplasia Punctata, Rhizomelic, Due to Dihydroxyacetonephosphate Acyltransferase Deficiency 56 12 73
Glyceronephosphate O-Acyltransferase Deficiency 56 12 73
Gnpat Deficiency 56 12 73
Chondrodysplasia Punctata, Rhizomelic, Type 2 13 39
Chondrodysplasia Punctata, Rhizomelic, Due to Dihydroxyacetonephosphate 52
Type 2 Rhizomelic Chondrodysplasia Punctata 52
Rhizomelic Chondrodysplasia Punctata 2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
rhizomelic chondrodysplasia punctata, type 2:
Inheritance autosomal recessive inheritance


Classifications:

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:0110852
OMIM 56 222765
OMIM Phenotypic Series 56 PS215100
MeSH 43 D018902
ICD10 32 Q77.3
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C1857242
Orphanet 58 ORPHA309796
MedGen 41 C1857242
UMLS 71 C1857242

Summaries for Rhizomelic Chondrodysplasia Punctata, Type 2

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 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100. (222765)

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, Type 2, also known as rhizomelic chondrodysplasia punctata type 2, is related to cataract and chondrodysplasia punctata syndrome. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 2 is GNPAT (Glyceronephosphate O-Acyltransferase), and among its related pathways/superpathways are Peroxisome and triacylglycerol biosynthesis. Affiliated tissues include bone, eye and cerebellum, and related phenotypes are cataract and intellectual disability

Disease Ontology : 12 A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.

UniProtKB/Swiss-Prot : 73 Rhizomelic chondrodysplasia punctata 2: 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 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 cataract 29.5 PEX7 PEX5 GNPAT AGPS
2 chondrodysplasia punctata syndrome 27.4 PHYH PEX7 PEX5L PEX5 PEX16 PEX13
3 rhizomelic chondrodysplasia punctata 26.5 PHYH PEX7 PEX5L PEX5 PEX16 PEX13
4 microcephaly 10.3
5 spastic quadriplegia 10.3
6 quadriplegia 10.3
7 congenital contractures 10.3
8 chronic polyneuropathy 10.0 PHYH PEX7
9 mulibrey nanism 9.8 PEX7 PEX5
10 acatalasemia 9.6 PEX5 PEX11A
11 ichthyosis 9.5 PHYH PEX7 GNPAT
12 leukodystrophy 9.5 PEX5 PEX16 PEX13
13 zellweger spectrum disorder 9.4 PEX5 PEX16 PEX13
14 peroxisome biogenesis disorder 1a 9.4 PEX5 PEX16 PEX13
15 neonatal adrenoleukodystrophy 9.2 PEX7 PEX5 PEX16 PEX13
16 adrenoleukodystrophy 9.2 PEX7 PEX5 PEX16 PEX13
17 rhizomelic chondrodysplasia punctata, type 3 9.1 PHYH PEX7 PEX5L PEX5 GNPAT AGPS
18 rhizomelic chondrodysplasia punctata, type 5 9.0 PEX7 PEX5L PEX5 GNPAT FAR1 AGPS
19 rhizomelic chondrodysplasia punctata, type 1 8.7 PHYH PEX7 PEX5L PEX5 PEX13 GNPAT
20 refsum disease, classic 8.2 PHYH PEX7 PEX5 PEX16 PEX13 PEX11A
21 peroxisomal disease 7.9 PHYH PEX7 PEX5 PEX16 PEX13 PEX11A
22 peroxisomal biogenesis disorder 7.8 PHYH PEX7 PEX5L PEX5 PEX16 PEX13
23 zellweger syndrome 7.1 PHYH PEX7 PEX5L PEX5 PEX16 PEX13
24 peroxisome biogenesis disorder 1b 7.1 PHYH PEX7 PEX5L PEX5 PEX16 PEX13

Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata, Type 2:



Diseases related to Rhizomelic Chondrodysplasia Punctata, Type 2

Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata, Type 2

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 2:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 intellectual disability 31 HP:0001249
3 depressed nasal bridge 31 HP:0005280
4 muscular hypotonia 31 HP:0001252
5 scoliosis 31 HP:0002650
6 wide nasal bridge 31 HP:0000431
7 microcephaly 31 HP:0000252
8 anteverted nares 31 HP:0000463
9 flexion contracture 31 HP:0001371
10 failure to thrive 31 HP:0001508
11 osteopenia 31 HP:0000938
12 high palate 31 HP:0000218
13 micrognathia 31 HP:0000347
14 high forehead 31 HP:0000348
15 abnormality of pelvic girdle bone morphology 31 HP:0002644
16 large fontanelles 31 HP:0000239
17 rhizomelia 31 HP:0008905
18 generalized hypotonia 31 HP:0001290
19 short humerus 31 HP:0005792
20 irregular vertebral endplates 31 HP:0003301
21 calcific stippling 31 HP:0002832
22 stippled calcification proximal humeral epiphyses 31 HP:0008838

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract

Head And Neck Head:
microcephaly
large fontanelles

Skeletal:
osteopenia
calcific stippling
contractures

Skeletal Pelvis:
stippled calcification proximal humeral epiphyses

Head And Neck Nose:
broad nasal bridge
anteverted nostrils
low nasal bridge

Head And Neck Mouth:
high-arched palate

Laboratory Abnormalities:
decreased plasmalogens
normal phytanic acid
decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

Skeletal Spine:
scoliosis
irregular vertebral endplates

Growth Other:
failure to thrive

Head And Neck Face:
micrognathia
high forehead

Neurologic Central Nervous System:
hypotonia
mental retardation

Skeletal Limbs:
rhizomelic shortening
short humeri
short femora

Growth Height:
short stature, disproportionate

Clinical features from OMIM:

222765

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata, Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 PEX11A PEX13 PEX5 PEX7 PHYH

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata, Type 2

Search Clinical Trials , NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata, Type 2

Genetic Tests for Rhizomelic Chondrodysplasia Punctata, Type 2

Genetic tests related to Rhizomelic Chondrodysplasia Punctata, Type 2:

# Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata Type 2 29 GNPAT

Anatomical Context for Rhizomelic Chondrodysplasia Punctata, Type 2

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata, Type 2:

40
Bone, Eye, Cerebellum, Retina

Publications for Rhizomelic Chondrodysplasia Punctata, Type 2

Articles related to Rhizomelic Chondrodysplasia Punctata, Type 2:

(show all 19)
# Title Authors PMID Year
1
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. 56 6 61
9536089 1998
2
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. 6 56
21990100 2012
3
Impaired membrane traffic in defective ether lipid biosynthesis. 56 6
11152660 2001
4
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. 6 56
9843043 1998
5
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. 6 56
7530787 1994
6
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. 6 56
1405476 1992
7
Growth charts for individuals with rhizomelic chondrodysplasia punctata. 56
27616591 2017
8
Genetics and molecular basis of human peroxisome biogenesis disorders. 56
22871920 2012
9
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. 56
20583171 2010
10
Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum. 56
19270340 2009
11
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. 56
15679822 2005
12
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. 56
12874108 2003
13
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 56
7541833 1995
14
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. 56
8466247 1993
15
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). 54 61
10972423 2000
16
Drosophila Courtship Conditioning As a Measure of Learning and Memory. 61
28605393 2017
17
Impaired neurotransmission in ether lipid-deficient nerve terminals. 61
22403185 2012
18
Comparative study of serine-plasmalogens in human retina and optic nerve: identification of atypical species with odd carbon chains. 61
22266369 2012
19
Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. 54
11237722 2001

Variations for Rhizomelic Chondrodysplasia Punctata, Type 2

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata, Type 2:

6 (show top 50) (show all 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNPAT NM_014236.4(GNPAT):c.632G>A (p.Arg211His)SNV Pathogenic 6841 rs121434439 1:231401102-231401102 1:231265356-231265356
2 GNPAT NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)SNV Pathogenic 6842 rs121434440 1:231401101-231401101 1:231265355-231265355
3 GNPAT NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs)duplication Pathogenic 6843 1:231401835-231401836 1:231266089-231266090
4 GNPAT NM_014236.4(GNPAT):c.780del (p.Asn261fs)deletion Pathogenic 6844 1:231401767-231401767 1:231266021-231266021
5 GNPAT NM_014236.4(GNPAT):c.1575del (p.Phe525fs)deletion Pathogenic 6845 1:231408110-231408110 1:231272364-231272364
6 GNPAT NM_014236.4(GNPAT):c.1280-3T>GSNV Pathogenic 35466 1:231406501-231406501 1:231270755-231270755
7 GNPAT NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs)deletion Pathogenic 35467 1:231406653-231406654 1:231270907-231270908
8 GNPAT NM_014236.4(GNPAT):c.1937+5G>ASNV Pathogenic 35468 1:231411249-231411249 1:231275503-231275503
9 GNPAT NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter)SNV Likely pathogenic 666971 1:231398472-231398472 1:231262726-231262726
10 GNPAT NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)SNV Likely pathogenic 692108 1:231401503-231401503 1:231265757-231265757
11 GNPAT NM_014236.4(GNPAT):c.747T>C (p.Ser249=)SNV Conflicting interpretations of pathogenicity 727943 1:231401508-231401508 1:231265762-231265762
12 GNPAT NM_014236.4(GNPAT):c.555A>T (p.Ile185=)SNV Conflicting interpretations of pathogenicity 211090 rs34613633 1:231398585-231398585 1:231262839-231262839
13 GNPAT NM_014236.4(GNPAT):c.569-11deldeletion Conflicting interpretations of pathogenicity 211091 rs199905093 1:231401025-231401025 1:231265279-231265279
14 GNPAT NM_014236.4(GNPAT):c.1453C>T (p.Leu485=)SNV Conflicting interpretations of pathogenicity 296127 rs370837823 1:231406677-231406677 1:231270931-231270931
15 GNPAT NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln)SNV Conflicting interpretations of pathogenicity 508512 rs142283145 1:231401099-231401099 1:231265353-231265353
16 GNPAT NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val)SNV Conflicting interpretations of pathogenicity 296136 rs142487190 1:231411199-231411199 1:231275453-231275453
17 GNPAT NM_014236.4(GNPAT):c.*389G>ASNV Uncertain significance 296141 rs886046094 1:231413677-231413677 1:231277931-231277931
18 GNPAT NM_014236.4(GNPAT):c.286G>T (p.Val96Leu)SNV Uncertain significance 296112 rs139378588 1:231396277-231396277 1:231260531-231260531
19 GNPAT NM_014236.4(GNPAT):c.1044C>T (p.Asn348=)SNV Uncertain significance 296121 rs760847656 1:231402142-231402142 1:231266396-231266396
20 GNPAT NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu)SNV Uncertain significance 296132 rs761578510 1:231409713-231409713 1:231273967-231273967
21 GNPAT NM_014236.4(GNPAT):c.1680G>A (p.Glu560=)SNV Uncertain significance 296133 rs886046093 1:231409745-231409745 1:231273999-231273999
22 GNPAT NM_014236.4(GNPAT):c.1744-13C>TSNV Uncertain significance 296134 rs188474049 1:231410954-231410954 1:231275208-231275208
23 GNPAT NM_014236.4(GNPAT):c.1890C>T (p.Asn630=)SNV Uncertain significance 296135 rs201916449 1:231411197-231411197 1:231275451-231275451
24 GNPAT NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro)SNV Uncertain significance 296126 rs886046091 1:231406648-231406648 1:231270902-231270902
25 GNPAT NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn)SNV Uncertain significance 587463 rs1558331190 1:231396280-231396280 1:231260534-231260534
26 GNPAT NM_014236.4(GNPAT):c.*2A>CSNV Uncertain significance 296138 rs149641223 1:231413290-231413290 1:231277544-231277544
27 GNPAT NM_014236.4(GNPAT):c.-147G>CSNV Uncertain significance 296102 rs868789232 1:231376978-231376978 1:231241232-231241232
28 GNPAT NM_014236.4(GNPAT):c.-47C>ASNV Uncertain significance 296107 rs201907247 1:231377078-231377078 1:231241332-231241332
29 GNPAT NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro)SNV Uncertain significance 296113 rs865813028 1:231398506-231398506 1:231262760-231262760
30 GNPAT NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr)SNV Uncertain significance 296117 rs373497748 1:231402105-231402105 1:231266359-231266359
31 GNPAT NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys)SNV Uncertain significance 296122 rs200830930 1:231403442-231403442 1:231267696-231267696
32 GNPAT NM_014236.4(GNPAT):c.1488A>G (p.Ala496=)SNV Uncertain significance 296130 rs886046092 1:231406712-231406712 1:231270966-231270966
33 GNPAT NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser)SNV Uncertain significance 296137 rs749833026 1:231413268-231413268 1:231277522-231277522
34 GNPAT NM_014236.4(GNPAT):c.*195C>TSNV Uncertain significance 296140 rs780763661 1:231413483-231413483 1:231277737-231277737
35 GNPAT NM_014236.4(GNPAT):c.-54A>GSNV Uncertain significance 296106 rs886046088 1:231377071-231377071 1:231241325-231241325
36 GNPAT NM_014236.4(GNPAT):c.57C>T (p.Ser19=)SNV Uncertain significance 296110 rs199844062 1:231377181-231377181 1:231241435-231241435
37 GNPAT NM_014236.4(GNPAT):c.608T>A (p.Met203Lys)SNV Uncertain significance 296114 rs779199619 1:231401078-231401078 1:231265332-231265332
38 GNPAT NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro)SNV Uncertain significance 296115 rs758663178 1:231401467-231401467 1:231265721-231265721
39 GNPAT NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp)SNV Uncertain significance 296118 rs886046090 1:231402128-231402128 1:231266382-231266382
40 GNPAT NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu)SNV Uncertain significance 296124 rs757791949 1:231406531-231406531 1:231270785-231270785
41 GNPAT NM_014236.4(GNPAT):c.-121C>TSNV Uncertain significance 296104 rs573141457 1:231377004-231377004 1:231241258-231241258
42 GNPAT NM_014236.4(GNPAT):c.-6C>TSNV Uncertain significance 296109 rs370992541 1:231377119-231377119 1:231241373-231241373
43 GNPAT NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg)SNV Uncertain significance 296111 rs886046089 1:231396269-231396269 1:231260523-231260523
44 GNPAT NM_014236.4(GNPAT):c.798A>G (p.Pro266=)SNV Uncertain significance 296116 rs371142386 1:231401785-231401785 1:231266039-231266039
45 GNPAT NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln)SNV Uncertain significance 296119 rs375611364 1:231402129-231402129 1:231266383-231266383
46 GNPAT NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser)SNV Uncertain significance 296120 rs201538200 1:231402141-231402141 1:231266395-231266395
47 GNPAT NM_014236.4(GNPAT):c.1280-8G>ASNV Uncertain significance 296123 rs776118687 1:231406496-231406496 1:231270750-231270750
48 GNPAT NM_014236.4(GNPAT):c.-153A>CSNV Uncertain significance 875921 1:231376972-231376972 1:231241226-231241226
49 GNPAT NM_014236.4(GNPAT):c.-82G>TSNV Uncertain significance 876914 1:231377043-231377043 1:231241297-231241297
50 GNPAT NM_014236.4(GNPAT):c.930G>A (p.Leu310=)SNV Uncertain significance 875054 1:231402028-231402028 1:231266282-231266282

UniProtKB/Swiss-Prot genetic disease variations for Rhizomelic Chondrodysplasia Punctata, Type 2:

73
# Symbol AA change Variation ID SNP ID
1 GNPAT p.Arg211Cys VAR_006357 rs121434440
2 GNPAT p.Arg211His VAR_006358 rs121434439
3 GNPAT p.Asp519Gly VAR_025897 rs11558492

Expression for Rhizomelic Chondrodysplasia Punctata, Type 2

Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata, Type 2.

Pathways for Rhizomelic Chondrodysplasia Punctata, Type 2

Pathways related to Rhizomelic Chondrodysplasia Punctata, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.24 PHYH PEX7 PEX5L PEX5 PEX16 PEX13
2
Show member pathways
11.1 GNPAT AGPS
3
Show member pathways
10.86 PHYH GNPAT AGPS
4
Show member pathways
10.52 GNPAT AGPS

GO Terms for Rhizomelic Chondrodysplasia Punctata, Type 2

Cellular components related to Rhizomelic Chondrodysplasia Punctata, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisomal membrane GO:0005778 9.61 PEX7 PEX5L PEX5 PEX16 PEX13 PEX11A
2 integral component of peroxisomal membrane GO:0005779 9.56 PEX16 PEX13 PEX11A FAR1
3 peroxisomal matrix GO:0005782 9.55 PHYH PEX7 GNPAT FAR1 AGPS
4 peroxisome GO:0005777 9.28 PHYH PEX7 PEX5 PEX16 PEX13 PEX11A

Biological processes related to Rhizomelic Chondrodysplasia Punctata, Type 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.65 PEX7 PEX5 PEX13
2 fatty acid beta-oxidation GO:0006635 9.51 PEX7 PEX5
3 protein import into peroxisome matrix GO:0016558 9.5 PEX7 PEX5 PEX16
4 cellular lipid metabolic process GO:0044255 9.49 PEX5 GNPAT
5 cerebral cortex cell migration GO:0021795 9.46 PEX5 PEX13
6 peroxisome organization GO:0007031 9.46 PEX7 PEX5 PEX16 PEX11A
7 fatty acid alpha-oxidation GO:0001561 9.43 PHYH PEX13
8 protein import into peroxisome matrix, docking GO:0016560 9.43 PEX5L PEX5 PEX13
9 protein import into peroxisome membrane GO:0045046 9.4 PEX5 PEX16
10 peroxisome membrane biogenesis GO:0016557 9.37 PEX16 PEX11A
11 ether lipid biosynthetic process GO:0008611 9.26 PEX7 GNPAT FAR1 AGPS
12 protein targeting to peroxisome GO:0006625 9.17 PHYH PEX7 PEX5 PEX16 PEX13 GNPAT

Molecular functions related to Rhizomelic Chondrodysplasia Punctata, Type 2 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 2

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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