RCDP2
MCID: RHZ014
MIFTS: 43

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 57 72 70
Rhizomelic Chondrodysplasia Punctata Type 2 12 20 58 29 6 15
Dihydroxyacetonephosphate Acyltransferase Deficiency 57 12 20 72 54
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency 57 12 20 72
Dhapat Deficiency 57 12 20 72
Rcdp2 57 12 20 72
Chondrodysplasia Punctata, Rhizomelic, Due to Dihydroxyacetonephosphate Acyltransferase Deficiency 57 12 72
Glyceronephosphate O-Acyltransferase Deficiency 57 12 72
Gnpat Deficiency 57 12 72
Chondrodysplasia Punctata, Rhizomelic, Type 2 13 39
Chondrodysplasia Punctata, Rhizomelic, Due to Dihydroxyacetonephosphate 20
Type 2 Rhizomelic Chondrodysplasia Punctata 20
Rhizomelic Chondrodysplasia Punctata 2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 222765
OMIM Phenotypic Series 57 PS215100
MeSH 44 D018902
ICD10 32 Q77.3
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 71 C1857242
Orphanet 58 ORPHA309796
MedGen 41 C1857242
UMLS 70 C1857242

Summaries for Rhizomelic Chondrodysplasia Punctata, Type 2

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. 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) (Updated 05-Apr-2021)

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 eye, bone and cerebellum, and related phenotypes are intellectual disability and failure to thrive

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 : 72 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 21)
# Related Disease Score Top Affiliating Genes
1 cataract 29.6 PEX7 PEX5 GNPAT AGPS
2 chondrodysplasia punctata syndrome 28.2 PHYH PEX7 PEX5L PEX5 PEX16 GNPAT
3 rhizomelic chondrodysplasia punctata 27.8 PHYH PEX7 PEX5L PEX5 PEX16 PEX11A
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 9.9 PEX7 PEX5
10 zellweger spectrum disorder 9.7 PEX5 PEX16
11 peroxisome biogenesis disorder 1a 9.7 PEX5 PEX16
12 adrenoleukodystrophy 9.5 PEX7 PEX5 PEX16
13 neonatal adrenoleukodystrophy 9.5 PEX5 PEX16
14 rhizomelic chondrodysplasia punctata, type 3 9.2 PHYH PEX7 PEX5L PEX5 GNPAT AGPS
15 rhizomelic chondrodysplasia punctata, type 1 9.2 PHYH PEX7 PEX5L PEX5 GNPAT AGPS
16 rhizomelic chondrodysplasia punctata, type 5 9.1 PEX7 PEX5L PEX5 GNPAT FAR1 AGPS
17 peroxisomal disease 8.8 PHYH PEX7 PEX5 PEX16 PEX11A GNPAT
18 refsum disease, classic 8.8 PHYH PEX7 PEX5 PEX16 PEX11A GNPAT
19 peroxisomal biogenesis disorder 8.5 PHYH PEX7 PEX5L PEX5 PEX16 PEX11A
20 zellweger syndrome 8.1 PHYH PEX7 PEX5L PEX5 PEX16 PEX11A
21 peroxisome biogenesis disorder 1b 8.1 PHYH PEX7 PEX5L PEX5 PEX16 PEX11A

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Skeletal:
osteopenia
calcific stippling
contractures

Head And Neck Head:
microcephaly
large fontanelles

Neurologic Central Nervous System:
hypotonia
mental retardation

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

Head And Neck Eyes:
cataract

Head And Neck Face:
micrognathia
high forehead

Skeletal Pelvis:
stippled calcification proximal humeral epiphyses

Skeletal Limbs:
rhizomelic shortening
short humeri
short femora

Growth Height:
short stature, disproportionate

Clinical features from OMIM®:

222765 (Updated 05-Apr-2021)

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
Eye, Bone, 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. 61 57 6
9536089 1998
2
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. 57 6
21990100 2012
3
Impaired membrane traffic in defective ether lipid biosynthesis. 57 6
11152660 2001
4
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. 6 57
9843043 1998
5
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay. 6 57
7530787 1994
6
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. 6 57
1405476 1992
7
Growth charts for individuals with rhizomelic chondrodysplasia punctata. 57
27616591 2017
8
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
9
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. 57
20583171 2010
10
Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum. 57
19270340 2009
11
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. 57
15679822 2005
12
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. 57
12874108 2003
13
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 57
7541833 1995
14
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. 57
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 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNPAT NM_014236.4(GNPAT):c.632G>A (p.Arg211His) SNV Pathogenic 6841 rs121434439 GRCh37: 1:231401102-231401102
GRCh38: 1:231265356-231265356
2 GNPAT NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) SNV Pathogenic 6842 rs121434440 GRCh37: 1:231401101-231401101
GRCh38: 1:231265355-231265355
3 GNPAT NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs) Duplication Pathogenic 6843 rs1558334625 GRCh37: 1:231401835-231401836
GRCh38: 1:231266089-231266090
4 GNPAT NM_014236.4(GNPAT):c.780del (p.Asn261fs) Deletion Pathogenic 6844 rs1571950208 GRCh37: 1:231401767-231401767
GRCh38: 1:231266021-231266021
5 GNPAT NM_014236.4(GNPAT):c.1575del (p.Phe525fs) Deletion Pathogenic 6845 rs1571957148 GRCh37: 1:231408110-231408110
GRCh38: 1:231272364-231272364
6 GNPAT NM_014236.4(GNPAT):c.1280-3T>G SNV Pathogenic 35466 rs1571955307 GRCh37: 1:231406501-231406501
GRCh38: 1:231270755-231270755
7 GNPAT NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs) Deletion Pathogenic 35467 rs1571955597 GRCh37: 1:231406653-231406654
GRCh38: 1:231270907-231270908
8 GNPAT NM_014236.4(GNPAT):c.1937+5G>A SNV Pathogenic 35468 rs1571960363 GRCh37: 1:231411249-231411249
GRCh38: 1:231275503-231275503
9 GNPAT NM_014236.4(GNPAT):c.697-2A>G SNV Pathogenic 1032612 GRCh37: 1:231401456-231401456
GRCh38: 1:231265710-231265710
10 GNPAT NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) SNV Likely pathogenic 666971 rs1571946866 GRCh37: 1:231398472-231398472
GRCh38: 1:231262726-231262726
11 GNPAT NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys) SNV Likely pathogenic 692108 rs1442079596 GRCh37: 1:231401503-231401503
GRCh38: 1:231265757-231265757
12 GNPAT NM_014236.4(GNPAT):c.2021A>T (p.Lys674Ile) SNV Uncertain significance 994039 GRCh37: 1:231413266-231413266
GRCh38: 1:231277520-231277520
13 GNPAT NM_014236.4(GNPAT):c.1453C>T (p.Leu485=) SNV Uncertain significance 296127 rs370837823 GRCh37: 1:231406677-231406677
GRCh38: 1:231270931-231270931
14 GNPAT NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln) SNV Uncertain significance 508512 rs142283145 GRCh37: 1:231401099-231401099
GRCh38: 1:231265353-231265353
15 GNPAT NM_014236.4(GNPAT):c.286G>T (p.Val96Leu) SNV Uncertain significance 296112 rs139378588 GRCh37: 1:231396277-231396277
GRCh38: 1:231260531-231260531
16 GNPAT NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) SNV Uncertain significance 296119 rs375611364 GRCh37: 1:231402129-231402129
GRCh38: 1:231266383-231266383
17 GNPAT NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys) SNV Uncertain significance 296122 rs200830930 GRCh37: 1:231403442-231403442
GRCh38: 1:231267696-231267696
18 GNPAT NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val) SNV Uncertain significance 296136 rs142487190 GRCh37: 1:231411199-231411199
GRCh38: 1:231275453-231275453
19 GNPAT NM_014236.4(GNPAT):c.1668C>T (p.Ile556=) SNV Uncertain significance 874169 GRCh37: 1:231409733-231409733
GRCh38: 1:231273987-231273987
20 GNPAT NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys) SNV Uncertain significance 874170 GRCh37: 1:231409743-231409743
GRCh38: 1:231273997-231273997
21 GNPAT NM_014236.4(GNPAT):c.1713A>G (p.Gly571=) SNV Uncertain significance 874171 GRCh37: 1:231409778-231409778
GRCh38: 1:231274032-231274032
22 GNPAT NM_014236.4(GNPAT):c.747T>C (p.Ser249=) SNV Uncertain significance 727943 rs202033127 GRCh37: 1:231401508-231401508
GRCh38: 1:231265762-231265762
23 GNPAT NM_014236.4(GNPAT):c.924+4C>T SNV Uncertain significance 875053 GRCh37: 1:231401915-231401915
GRCh38: 1:231266169-231266169
24 GNPAT NM_014236.4(GNPAT):c.930G>A (p.Leu310=) SNV Uncertain significance 875054 GRCh37: 1:231402028-231402028
GRCh38: 1:231266282-231266282
25 GNPAT NM_014236.4(GNPAT):c.*45C>T SNV Uncertain significance 875099 GRCh37: 1:231413333-231413333
GRCh38: 1:231277587-231277587
26 GNPAT NM_014236.4(GNPAT):c.*129C>T SNV Uncertain significance 875100 GRCh37: 1:231413417-231413417
GRCh38: 1:231277671-231277671
27 GNPAT NM_014236.4(GNPAT):c.-153A>C SNV Uncertain significance 875921 GRCh37: 1:231376972-231376972
GRCh38: 1:231241226-231241226
28 GNPAT NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) SNV Uncertain significance 875979 GRCh37: 1:231402086-231402086
GRCh38: 1:231266340-231266340
29 GNPAT NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) SNV Uncertain significance 875980 GRCh37: 1:231403465-231403465
GRCh38: 1:231267719-231267719
30 GNPAT NM_014236.4(GNPAT):c.*338A>G SNV Uncertain significance 876045 GRCh37: 1:231413626-231413626
GRCh38: 1:231277880-231277880
31 GNPAT NM_014236.4(GNPAT):c.*399G>C SNV Uncertain significance 876046 GRCh37: 1:231413687-231413687
GRCh38: 1:231277941-231277941
32 GNPAT NM_014236.4(GNPAT):c.-82G>T SNV Uncertain significance 876914 GRCh37: 1:231377043-231377043
GRCh38: 1:231241297-231241297
33 GNPAT NM_014236.4(GNPAT):c.1353C>G (p.Asp451Glu) SNV Uncertain significance 876961 GRCh37: 1:231406577-231406577
GRCh38: 1:231270831-231270831
34 GNPAT NM_014236.4(GNPAT):c.1428C>T (p.Leu476=) SNV Uncertain significance 876962 GRCh37: 1:231406652-231406652
GRCh38: 1:231270906-231270906
35 GNPAT NM_014236.4(GNPAT):c.65T>C (p.Val22Ala) SNV Uncertain significance 716279 rs143388851 GRCh37: 1:231377189-231377189
GRCh38: 1:231241443-231241443
36 GNPAT NM_014236.4(GNPAT):c.-47C>A SNV Uncertain significance 296107 rs201907247 GRCh37: 1:231377078-231377078
GRCh38: 1:231241332-231241332
37 GNPAT NM_014236.4(GNPAT):c.1488A>G (p.Ala496=) SNV Uncertain significance 296130 rs886046092 GRCh37: 1:231406712-231406712
GRCh38: 1:231270966-231270966
38 GNPAT NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg) SNV Uncertain significance 296111 rs886046089 GRCh37: 1:231396269-231396269
GRCh38: 1:231260523-231260523
39 GNPAT NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser) SNV Uncertain significance 296120 rs201538200 GRCh37: 1:231402141-231402141
GRCh38: 1:231266395-231266395
40 GNPAT NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr) SNV Uncertain significance 296117 rs373497748 GRCh37: 1:231402105-231402105
GRCh38: 1:231266359-231266359
41 GNPAT NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro) SNV Uncertain significance 296115 rs758663178 GRCh37: 1:231401467-231401467
GRCh38: 1:231265721-231265721
42 GNPAT NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu) SNV Uncertain significance 296132 rs761578510 GRCh37: 1:231409713-231409713
GRCh38: 1:231273967-231273967
43 GNPAT NM_014236.4(GNPAT):c.-121C>T SNV Uncertain significance 296104 rs573141457 GRCh37: 1:231377004-231377004
GRCh38: 1:231241258-231241258
44 GNPAT NM_014236.4(GNPAT):c.*2A>C SNV Uncertain significance 296138 rs149641223 GRCh37: 1:231413290-231413290
GRCh38: 1:231277544-231277544
45 GNPAT NM_014236.4(GNPAT):c.1890C>T (p.Asn630=) SNV Uncertain significance 296135 rs201916449 GRCh37: 1:231411197-231411197
GRCh38: 1:231275451-231275451
46 GNPAT NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn) SNV Uncertain significance 587463 rs1558331190 GRCh37: 1:231396280-231396280
GRCh38: 1:231260534-231260534
47 GNPAT NM_014236.4(GNPAT):c.*389G>A SNV Uncertain significance 296141 rs886046094 GRCh37: 1:231413677-231413677
GRCh38: 1:231277931-231277931
48 GNPAT NM_014236.4(GNPAT):c.1680G>A (p.Glu560=) SNV Uncertain significance 296133 rs886046093 GRCh37: 1:231409745-231409745
GRCh38: 1:231273999-231273999
49 GNPAT NM_014236.4(GNPAT):c.798A>G (p.Pro266=) SNV Uncertain significance 296116 rs371142386 GRCh37: 1:231401785-231401785
GRCh38: 1:231266039-231266039
50 GNPAT NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp) SNV Uncertain significance 296118 rs886046090 GRCh37: 1:231402128-231402128
GRCh38: 1:231266382-231266382

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

72
# 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 11.19 PHYH PEX7 PEX5L PEX5 PEX16 PEX11A
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 matrix GO:0005782 9.63 PHYH PEX7 PEX5 GNPAT FAR1 AGPS
2 peroxisomal membrane GO:0005778 9.56 PEX7 PEX5L PEX5 PEX16 PEX11A GNPAT
3 integral component of peroxisomal membrane GO:0005779 9.43 PEX16 PEX11A FAR1
4 peroxisome GO:0005777 9.23 PHYH PEX7 PEX5 PEX16 PEX11A GNPAT

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

# Name GO ID Score Top Affiliating Genes
1 fatty acid beta-oxidation GO:0006635 9.46 PEX7 PEX5
2 peroxisome organization GO:0007031 9.46 PEX7 PEX5 PEX16 PEX11A
3 cellular lipid metabolic process GO:0044255 9.43 PEX5 GNPAT
4 protein import into peroxisome matrix GO:0016558 9.43 PEX7 PEX5 PEX16
5 protein import into peroxisome membrane GO:0045046 9.4 PEX5 PEX16
6 protein import into peroxisome matrix, docking GO:0016560 9.37 PEX5L PEX5
7 peroxisome membrane biogenesis GO:0016557 9.32 PEX16 PEX11A
8 ether lipid biosynthetic process GO:0008611 9.26 PEX7 GNPAT FAR1 AGPS
9 protein targeting to peroxisome GO:0006625 9.1 PHYH PEX7 PEX5 PEX16 GNPAT AGPS

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

# Name GO ID Score Top Affiliating Genes
1 peroxisome targeting sequence binding GO:0000268 8.96 PEX5L PEX5
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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