MCID: PRX059
MIFTS: 52

Peroxisome Biogenesis Disorder 1a malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases, Liver diseases, Blood diseases, Neuronal diseases, Eye diseases, Fetal diseases, Endocrine diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 1a

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Aliases & Descriptions for Peroxisome Biogenesis Disorder 1a:

Name: Peroxisome Biogenesis Disorder 1a 52 70 12
Zellweger Syndrome 11 48 24 49 70 50 39 13 68
Cerebrohepatorenal Syndrome 11 48 24 70
Zs 48 24 70
Peroxisome Biogenesis Disorder Complementation Group 1 70 27
Zellweger Leukodystrophy 48 68
Zellweger's Syndrome 70 27
Zws 48 70
Peroxisome Biogenesis Disorder, Complementation Group 1 68
Peroxisome Biogenesis Disorder Complementation Group E 70
Peroxisome Biogenesis Disorder 11
 
Complete Hematologic Response 68
Cerebro-Hepato-Renal Syndrome 70
Congenital Iron Overload 11
Chromate Resistance 68
Chr Syndrome 70
Pbd-Cg1 70
Pbd-Cge 70
Pbd1a 70
Cg1 70
Chr 48

Characteristics:

HPO:

64
peroxisome biogenesis disorder 1a:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 214100
Disease Ontology11 DOID:905
ICD1030 E71.510
SNOMED-CT62 88469006
NCIt45 C85239

Summaries for Peroxisome Biogenesis Disorder 1a

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OMIM:52 Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic... (214100) more...

MalaCards based summary: Peroxisome Biogenesis Disorder 1a, also known as zellweger syndrome, is related to peroxisome biogenesis disorder 9b and peroxisomal disease, and has symptoms including cryptorchidism, hypospadias and clitoral hypertrophy. An important gene associated with Peroxisome Biogenesis Disorder 1a is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Peroxisomal lipid metabolism. Affiliated tissues include liver, eye and kidney, and related mouse phenotypes are growth/size/body region and liver/biliary system.

Disease Ontology:11 A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has material basis in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.

NIH Rare Diseases:48 Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities. Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. Children with Zellweger syndrome usually do not survive beyond the first year of life. Zellweger syndrome is caused by mutations in any one of at least 12 genes; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner. There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive. Last updated: 12/7/2014

NINDS:49 Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. The Zellweger spectrum is comprised of three disorders that have considerable overlap of features. These include Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least severe form). Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures. Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.

UniProtKB/Swiss-Prot:70 Peroxisome biogenesis disorder 1A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. Peroxisome biogenesis disorder complementation group 1: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).

Related Diseases for Peroxisome Biogenesis Disorder 1a

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Diseases in the Peroxisome Biogenesis Disorder 6a family:

Peroxisome Biogenesis Disorder 6b Peroxisome Biogenesis Disorder 13a
Peroxisome Biogenesis Disorder 14b Peroxisome Biogenesis Disorder 12a
Peroxisome Biogenesis Disorder 11a Peroxisome Biogenesis Disorder 11b
Peroxisome Biogenesis Disorder 4a Peroxisome Biogenesis Disorder 4b
Peroxisome Biogenesis Disorder 9b Peroxisome Biogenesis Disorder 10a
peroxisome biogenesis disorder 1a Peroxisome Biogenesis Disorder 1b
Peroxisome Biogenesis Disorder 5a Peroxisome Biogenesis Disorder 5b
Peroxisome Biogenesis Disorder 8a, Peroxisome Biogenesis Disorder 8b
Peroxisome Biogenesis Disorder 2a Peroxisome Biogenesis Disorder 2b
Peroxisome Biogenesis Disorder 3a Peroxisome Biogenesis Disorder 3b
Peroxisome Biogenesis Disorder 7a Peroxisome Biogenesis Disorder 7b

Diseases related to Peroxisome Biogenesis Disorder 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b30.1ACOX1, HSD17B4, PEX5, SCP2
2peroxisomal disease27.7ABCD3, PEX1, PEX10, PEX12, PEX16, PEX2
3peroxisome biogenesis disorders, zellweger syndrome spectrum12.3
4d-bifunctional protein deficiency11.6
5peroxisome biogenesis disorder 5a11.5
6refsum disease11.1
7peroxisome biogenesis disorder 1b11.1
8peroxisome biogenesis disorder 6a11.0
9peroxisome biogenesis disorder 13a11.0
10peroxisome biogenesis disorder 12a11.0
11peroxisome biogenesis disorder 11a11.0
12peroxisome biogenesis disorder 4a11.0
13peroxisome biogenesis disorder 10a11.0
14peroxisome biogenesis disorder 8a,11.0
15peroxisome biogenesis disorder 2a11.0
16peroxisome biogenesis disorder 3a11.0
17peroxisome biogenesis disorder 7a11.0
18alpha-methylacetoacetic aciduria10.9
19peroxisome biogenesis disorder 14b10.9
20chronic sphenoidal sinusitis10.8
21peroxisome biogenesis disorder 6b10.7
22peroxisome biogenesis disorder 11b10.7
23peroxisome biogenesis disorder 4b10.7
24peroxisome biogenesis disorder 5b10.7
25peroxisome biogenesis disorder 8b10.7
26peroxisome biogenesis disorder 2b10.7
27peroxisome biogenesis disorder 3b10.7
28peroxisome biogenesis disorder 7b10.7
29trigger thumb10.4PEX1, PEX6
30kif14-related meckel syndrome10.3PEX2, PEX6
31growth hormone deficiency, isolated, type ii10.3PEX1, PEX5
32adrenoleukodystrophy10.2
33peroxisome disorders10.2
34cholinergic urticaria10.1ABCD3, PEX5
35metaphyseal dysplasia, braun-tinschert type10.1GNPAT, PEX5
36neonatal adrenoleukodystrophy10.1
37digeorge syndrome10.0
38rhizomelic chondrodysplasia punctata10.0
39neuronitis10.0
40peroxisomal biogenesis disorders10.0
41myoclonic encephalopathy of infants10.0PEX2, PEX6
42fga-related congenital afibrinogenemia9.9HSD17B4, SCP2
43myopathy9.9
44astrocytoma9.8
45hepatitis9.8
46neuronal migration disorders9.8
47deficiency anemia9.7
48iron deficiency anemia9.7
49gout9.7
50glioblastoma multiforme9.7

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 1a:



Diseases related to peroxisome biogenesis disorder 1a

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 1a

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Symptoms by clinical synopsis from OMIM:

214100

Clinical features from OMIM:

214100

Human phenotypes related to Peroxisome Biogenesis Disorder 1a:

 64 (show all 65)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 hypospadias64 HP:0000047
3 clitoral hypertrophy64 HP:0000057
4 hydronephrosis64 HP:0000126
5 macroglossia64 HP:0000158
6 high palate64 HP:0000218
7 brachyturricephaly64 HP:0000244
8 macrocephaly64 HP:0000256
9 malar flattening64 HP:0000272
10 epicanthus64 HP:0000286
11 round face64 HP:0000311
12 hypertelorism64 HP:0000316
13 micrognathia64 HP:0000347
14 high forehead64 HP:0000348
15 posteriorly rotated ears64 HP:0000358
16 sensorineural hearing impairment64 HP:0000407
17 anteverted nares64 HP:0000463
18 glaucoma64 HP:0000501
19 abnormal electroretinogram64 HP:0000512
20 cataract64 HP:0000518
21 optic disc pallor64 HP:0000543
22 pigmentary retinopathy64 HP:0000580
23 upslanted palpebral fissure64 HP:0000582
24 nystagmus64 HP:0000639
25 adrenal hypoplasia64 HP:0000835
26 single transverse palmar crease64 HP:0000954
27 brushfield spots64 HP:0001088
28 ulnar deviation of the hand or of fingers of the hand64 HP:0001193
29 seizures64 HP:0001250
30 muscular hypotonia64 HP:0001252
31 hyporeflexia64 HP:0001265
32 areflexia64 HP:0001284
33 intrahepatic biliary dysgenesis64 HP:0001401
34 failure to thrive64 HP:0001508
35 bell-shaped thorax64 HP:0001591
36 breech presentation64 HP:0001623
37 ventricular septal defect64 HP:0001629
38 patent ductus arteriosus64 HP:0001643
39 talipes equinovarus64 HP:0001762
40 rocker bottom foot64 HP:0001838
41 metatarsus adductus64 HP:0001840
42 pulmonary hypoplasia64 HP:0002089
43 polymicrogyria64 HP:0002126
44 hepatomegaly64 HP:0002240
45 heterotopia64 HP:0002282
46 subependymal cysts64 HP:0002416
47 delayed skeletal maturation64 HP:0002750
48 cubitus valgus64 HP:0002967
49 aminoaciduria64 HP:0003355
50 elevated long chain fatty acids64 HP:0003455
51 widely patent fontanelles and sutures64 HP:0004492
52 renal cortical microcysts64 HP:0004734
53 flat occiput64 HP:0005469
54 redundant neck skin64 HP:0005989
55 prolonged neonatal jaundice64 HP:0006579
56 intellectual disability, progressive64 HP:0006887
57 hypoplastic olfactory lobes64 HP:0006894
58 aplasia/hypoplasia of the corpus callosum64 HP:0007370
59 opacification of the corneal stroma64 HP:0007759
60 epiphyseal stippling64 HP:0010655
61 protruding tongue64 HP:0010808
62 intellectual disability, severe64 HP:0010864
63 abnormality of the helix64 HP:0011039
64 flat face64 HP:0012368
65 albuminuria64 HP:0012592

UMLS symptoms related to Peroxisome Biogenesis Disorder 1a:


hepatomegaly, seizures

MGI Mouse Phenotypes related to Peroxisome Biogenesis Disorder 1a according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1ACOX1, GNPAT, HSD17B4, PEX1, PEX10, PEX2
2MP:00053707.8ABCD3, ACOX1, HSD17B4, PEX1, PEX2, PEX5
3MP:00053766.8ABCD3, ACOX1, CAT, GNPAT, HSD17B4, PEX1

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 1a

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Drugs for Peroxisome Biogenesis Disorder 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 3102
2Gastrointestinal AgentsPhase 38109
3Liver ExtractsPhase 33868
4Cholic AcidsPhase 39
5
Ursodeoxycholic acidapproved, investigational95128-13-231401
Synonyms:
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oic acid
(3a,5b,7b)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta,8xi)-3,7-dihydroxycholan-24-oic acid
(3α,5β,7β)-3,7-dihydroxycholan-24-oic acid
(4R)-4-[(3R,5S,7S,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid
128-13-2
17-beta-(1-Methyl-3-carboxypropyl)etiocholane-3-alpha,7-beta-diol
3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid
3,7-Dihydroxycholan-24-oic acid
3-alpha,7-beta-Dihydroxy-5-beta-cholanoic acid
3-alpha,7-beta-Dihydroxycholanic acid
3-alpha,7-beta-Dioxycholanic acid
3a,7b-Dihydroxy-5b-cholan-24-oate
3a,7b-Dihydroxy-5b-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholanic acid
4-10-00-01604 (Beilstein Handbook Reference)
50809-41-1
5beta-Cholan-24-oic acid-3alpha,7beta-diol
5beta-Cholanic Acid-3alpha,7beta-diol
7-beta-Hydroxylithocholic acid
7beta-Hydroxylithocholic acid
80225-86-1
AB00513977
AC-18919
AC-2081
AC1L1LJH
Acide ursodesoxycholique
Acide ursodesoxycholique [INN-French]
Acido ursodeossicolico
Acido ursodeossicolico [Italian]
Acido ursodeoxicolico
Acido ursodeoxicolico [INN-Spanish]
Acidum ursodeoxycholicum
Acidum ursodeoxycholicum [INN-Latin]
Actigall
Actigall (TN)
Antigall
Arsacol
BB_NC-2372
BPBio1_001052
BRN 3219888
BSPBio_000956
C07880
C24H40O4
CCRIS 5502
CHEBI:9907
CHEMBL1551
CHEMBL73390
CID11516715
CID31401
CPD-10534
CPD000058403
Cholan-24-oic acid, 3,7-dihydroxy-, (3-alpha,5-beta,7-beta)- (9CI)
Cholit-ursan
D00734
DB01586
Delursan
Deoxyursocholic Acid
Destolit
Deursil
Dom-ursodiol c
EINECS 204-879-3
HMS1570P18
 
ISO-URSODEOXYCHOLIC ACID
IU5
LMST04010033
LS-53033
Litursol
Lyeton
MLS000028461
MLS001066373
MolPort-001-794-630
MolPort-005-932-884
NCGC00179363-01
NCI60_028904
NSC 657950
NSC 683769
PHL-ursodiol c
PMS-ursodiol c
Peptarom
Prestwick0_000958
Prestwick1_000958
Prestwick2_000958
Prestwick3_000958
S1643_Selleck
SAM002264653
SMP2_000012
SMR000058403
SPBio_003105
Sodium Ursodeoxycholate
Solutrat
U-9000
U0030
U5127_SIGMA
UDCA
UDCS
UNII-724L30Y2QR
URSODEOXYCHOLIC ACID
UrSO
Urosdesoxycholate
Urosdesoxycholic acid
Urosiol
Ursacholic Acid
Ursacol
Urso
Urso (TN)
Urso 250
Urso DS
Urso Forte
Ursobilin
Ursochol
Ursodamor
Ursodeoxy cholic acid
Ursodeoxycholate
Ursodeoxycholic acid
Ursodeoxycholic acid (JP15/INN)
Ursodeoxycholic acid, UDCA, Ursosan, Ursofalk, Urso Forte, Udiliv, Ursodiol
Ursodeoxycholicacid
Ursodesoxycholic acid
Ursodexycholate
Ursodexycholic Acid
Ursodexycholic acid
Ursodiol
Ursodiol (USP)
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
6
chenodeoxycholic acidapproved32474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
7Cathartics520
8Laxatives520

Interventional clinical trials:

idNameStatusNCT IDPhase
1Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidCompletedNCT00007020Phase 3
2Study of Bile Acids in Patients With Peroxisomal DisordersTerminatedNCT00004442

Search NIH Clinical Center for Peroxisome Biogenesis Disorder 1a


Cochrane evidence based reviews: zellweger syndrome

Genetic Tests for Peroxisome Biogenesis Disorder 1a

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Genetic tests related to Peroxisome Biogenesis Disorder 1a:

id Genetic test Affiliating Genes
1 Zellweger Syndrome27 24
2 Peroxisome Biogenesis Disorder, Complementation Group 127

Anatomical Context for Peroxisome Biogenesis Disorder 1a

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MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 1a:

36
Liver, Eye, Kidney, Brain, Bone, Tongue, Skin

Publications for Peroxisome Biogenesis Disorder 1a

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Variations for Peroxisome Biogenesis Disorder 1a

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UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 1a:

70
id Symbol AA change Variation ID SNP ID
1PEX1p.Leu664ProVAR_008876rs28939678
2PEX1p.Gly843AspVAR_008877rs61750420
3PEX1p.Leu590ArgVAR_058376
4PEX1p.Gly593ArgVAR_058377rs61750407
5PEX1p.Arg798GlyVAR_058378rs61750419
6PEX1p.Ala1237GluVAR_058380

Clinvar genetic disease variations for Peroxisome Biogenesis Disorder 1a:

5 (show all 66)
id Gene Variation Type Significance SNP ID Assembly Location
1PEX1NM_000466.2(PEX1): c.2926+1G> ASNVLikely pathogenic, Pathogenicrs267608179GRCh37Chr 7, 92123800: 92123800
2PEX1NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs)deletionLikely pathogenicrs61750414GRCh38Chr 7, 92501914: 92501915
3PEX1NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter)SNVLikely pathogenic, Pathogenicrs61750418GRCh37Chr 7, 92131237: 92131237
4PEX1NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs)deletionLikely pathogenicrs786204544GRCh37Chr 7, 92147182: 92147186
5PEX1NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs)deletionLikely pathogenicrs749067142GRCh37Chr 7, 92147046: 92147047
6PEX1NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs)deletionLikely pathogenicrs61750423GRCh37Chr 7, 92126080: 92126080
7PEX1NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs)deletionLikely pathogenicrs769836601GRCh37Chr 7, 92118678: 92118681
8PEX1NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs)deletionLikely pathogenicrs786204606GRCh38Chr 7, 92507080: 92507081
9PEX1NM_000466.2(PEX1): c.2926+2T> CSNVLikely pathogenicrs267608180GRCh38Chr 7, 92494485: 92494485
10PEX1NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs)deletionLikely pathogenicrs786204638GRCh38Chr 7, 92517603: 92517604
11PEX1NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs)deletionLikely pathogenic, Pathogenicrs61750426GRCh37Chr 7, 92123811: 92123811
12PEX1NM_000466.2(PEX1): c.3G> A (p.Met1Ile)SNVLikely pathogenicrs786204704GRCh38Chr 7, 92528433: 92528433
13PEX1NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs)deletionLikely pathogenicrs786204743GRCh37Chr 7, 92140343: 92140344
14PEX1NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs)duplicationPathogenicrs794729652GRCh37Chr 7, 92120645: 92120645
15PEX26NM_017929.5(PEX26): c.134T> C (p.Leu45Pro)SNVPathogenicrs61752132GRCh37Chr 22, 18561276: 18561276
16PEX1NM_000466.2(PEX1): c.1131delA (p.Asp378Metfs)deletionPathogenicrs886043479GRCh37Chr 7, 92146698: 92146698
17PEX1NM_000466.2(PEX1): c.3304_3305insAT (p.Cys1102Tyrfs)insertionPathogenicrs886043558GRCh37Chr 7, 92120719: 92120720
18PEX10NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs)deletionPathogenicrs61752093GRCh38Chr 1, 2406581: 2406582
19PEX1NM_000466.2: c.2T> GSNVLikely pathogenicChr na, -1: -1
20PEX1NM_000466.2: c.1522dupGduplicationLikely pathogenicChr na, -1: -1
21PEX1NM_000466.2: c.1528G> TSNVLikely pathogenicChr na, -1: -1
22PEX1NM_000466.2: c.2034_2035delCAdeletionLikely pathogenicChr na, -1: -1
23PEX1NM_000466.2: c.1921C> TSNVLikely pathogenicChr na, -1: -1
24PEX1NM_000466.2: c.1076delAdeletionLikely pathogenicChr na, -1: -1
25PEX1NM_000466.2: c.2922delAdeletionLikely pathogenicChr na, -1: -1
26PEX1NM_000466.2: c.3574C> TSNVLikely pathogenicChr na, -1: -1
27PEX1NM_000466.2: c.2137C> TSNVLikely pathogenicChr na, -1: -1
28PEX1NM_000466.2: c.1587+1G> ASNVLikely pathogenicChr na, -1: -1
29PEX1NM_000466.2: c.2617C> TSNVLikely pathogenicChr na, -1: -1
30PEX1NM_000466.2: c.1842delAdeletionLikely pathogenicChr na, -1: -1
31PEX1NM_000466.2: c.2859dupTduplicationLikely pathogenicChr na, -1: -1
32PEX1NM_000466.2: c.130-1G> CSNVLikely pathogenicChr na, -1: -1
33PEX1NM_000466.2: c.1908delGdeletionLikely pathogenicChr na, -1: -1
34PEX1NM_000466.2: c.358-1G> TSNVLikely pathogenicChr na, -1: -1
35PEX1NM_000466.2: c.3547G> TSNVLikely pathogenicChr na, -1: -1
36PEX1NM_000466.2: c.2875C> TSNVLikely pathogenicChr na, -1: -1
37PEX1NM_000466.2: c.2798dupAduplicationLikely pathogenicChr na, -1: -1
38PEX1NM_000466.2: c.2686C> TSNVLikely pathogenicChr na, -1: -1
39PEX1NM_000466.2: c.1964_1970dup7duplicationLikely pathogenicChr na, -1: -1
40PEX1NM_000466.2: c.348G> ASNVLikely pathogenicChr na, -1: -1
41PEX1NM_000466.2: c.1074_1075delGAdeletionLikely pathogenicChr na, -1: -1
42PEX1NM_000466.2: c.1765G> TSNVLikely pathogenicChr na, -1: -1
43PEX1NM_000466.2: c.1670+1G> TSNVLikely pathogenicChr na, -1: -1
44PEX1NM_000466.2: c.1527delAdeletionLikely pathogenicChr na, -1: -1
45PEX1NM_000466.2: c.2162_2166del5deletionLikely pathogenicChr na, -1: -1
46PEX1NM_000466.2: c.358-2A> GSNVLikely pathogenicChr na, -1: -1
47PEX1NM_000466.2: c.1A> TSNVLikely pathogenicChr na, -1: -1
48PEX1NM_000466.2: c.2T> CSNVPathogenicChr na, -1: -1
49PEX1NM_000466.2: c.2723delCdeletionLikely pathogenicChr na, -1: -1
50PEX1NM_000466.2: c.892_895dupTATAduplicationLikely pathogenicChr na, -1: -1
51PEX1NM_000466.2: c.431dupCduplicationLikely pathogenicChr na, -1: -1
52PEX1NM_000466.2: c.1670+1G> ASNVLikely pathogenicChr na, -1: -1
53PEX1NM_000466.2: c.3237_3238delAAdeletionLikely pathogenicChr na, -1: -1
54PEX1NM_000466.2: c.3208-1G> ASNVLikely pathogenicChr na, -1: -1
55PEX1NM_000466.2: c.1155delAdeletionLikely pathogenicChr na, -1: -1
56PEX1NM_000466.2: c.734delTdeletionLikely pathogenicChr na, -1: -1
57PEX1NM_000466.2: c.3455_3456delCTdeletionLikely pathogenicChr na, -1: -1
58PEX1NM_000466.2: c.1108delAdeletionLikely pathogenicChr na, -1: -1
59PEX1NM_000466.2: c.1926_1927delAAinsCindelLikely pathogenicChr na, -1: -1
60PEX1NM_000466.2: c.547C> TSNVPathogenicChr na, -1: -1
61PEX1NM_000466.2: c.2927-2A> GSNVLikely pathogenicChr na, -1: -1
62PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)SNVPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
63PEX1NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro)SNVLikely pathogenic, Pathogenicrs121434455GRCh37Chr 7, 92134126: 92134126
64PEX1NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del)deletionPathogenicChr na, -1: -1
65PEX1NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)duplicationPathogenicrs61750415GRCh37Chr 7, 92132484: 92132484
66PEX1PEX1, 1-BP DEL, 2916AdeletionPathogenicChr na, -1: -1

Copy number variations for Peroxisome Biogenesis Disorder 1a from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1215229673300000149100000Copy numberPEX3Zellweger syndrome

Expression for genes affiliated with Peroxisome Biogenesis Disorder 1a

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Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 1a.

Pathways for genes affiliated with Peroxisome Biogenesis Disorder 1a

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GO Terms for genes affiliated with Peroxisome Biogenesis Disorder 1a

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Cellular components related to Peroxisome Biogenesis Disorder 1a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of peroxisomal membraneGO:00057799.5PEX10, PEX12, PEX16, PEX2, PEX26, PEX3
2protein complexGO:00432348.5PEX19, PEX3, PEX5, SCP2
3mitochondrionGO:00057398.3ABCD3, ACOX1, CAT, GNPAT, HSD17B4, SCP2
4peroxisomal matrixGO:00057828.3ABCD3, ACOX1, CAT, GNPAT, HSD17B4, SCP2
5intracellular membrane-bounded organelleGO:00432317.4ABCD3, ACOX1, CAT, HSD17B4, PEX1, PEX19
6membraneGO:00160207.1ABCD3, ACOX1, CAT, GNPAT, HSD17B4, PEX16
7peroxisomal membraneGO:00057785.7ABCD3, ACOX1, CAT, GNPAT, HSD17B4, PEX1
8peroxisomeGO:00057774.9ABCD3, ACOX1, CAT, GNPAT, HSD17B4, PEX1

Biological processes related to Peroxisome Biogenesis Disorder 1a according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1peroxisome membrane biogenesisGO:001655710.4PEX16, PEX3
2response to fatty acidGO:007054210.2CAT, GNPAT
3bile acid biosynthetic processGO:000669910.2HSD17B4, SCP2
4fatty acid beta-oxidationGO:00066359.8ABCD3, HSD17B4, PEX2, PEX5
5alpha-linolenic acid metabolic processGO:00361099.6ACOX1, HSD17B4, SCP2
6fatty acid beta-oxidation using acyl-CoA oxidaseGO:00335409.6ACOX1, HSD17B4, SCP2
7protein import into peroxisome matrixGO:00165589.2PEX1, PEX10, PEX12, PEX16, PEX2, PEX26
8very long-chain fatty acid metabolic processGO:00000389.2ACOX1, HSD17B4, PEX2
9transmembrane transportGO:00550859.2ABCD3, PEX19, PEX3
10protein targeting to peroxisomeGO:00066259.1PEX1, PEX12, PEX16, PEX19, PEX6
11protein import into peroxisome membraneGO:00450469.1PEX16, PEX19, PEX26, PEX3, PEX5
12peroxisome organizationGO:00070317.1ABCD3, PEX1, PEX10, PEX12, PEX16, PEX19

Molecular functions related to Peroxisome Biogenesis Disorder 1a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:004262310.7PEX1, PEX6
2fatty-acyl-CoA bindingGO:000006210.1ACOX1, SCP2
3protein C-terminus bindingGO:00080229.7PEX1, PEX12, PEX16, PEX26, PEX6
4protein N-terminus bindingGO:00474859.5ACOX1, PEX19, PEX5
5receptor bindingGO:00051028.0ACOX1, CAT, GNPAT, HSD17B4, SCP2

Sources for Peroxisome Biogenesis Disorder 1a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet