Zellweger Spectrum Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Zellweger Spectrum Disorder

MalaCards integrated aliases for Zellweger Spectrum Disorder:

Name: Zellweger Spectrum Disorder ²⁴ ²⁵

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ²⁵ ²⁹ ⁶

Zellweger Spectrum ²⁵ ⁷³

Cerebrohepatorenal Syndrome ²⁵

Zellweger Syndrome Spectrum ²⁵

Zellweger Syndrome ⁷³

Pbd, Zss ²⁵

Pbd-Zsd ²⁵

Zsd ²⁵

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷³ C3658299

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Summaries for Zellweger Spectrum Disorder

Genetics Home Reference : ²⁵ Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild.

MalaCards based summary : Zellweger Spectrum Disorder, also known as peroxisome biogenesis disorders, zellweger syndrome spectrum, is related to adrenoleukodystrophy and neonatal adrenoleukodystrophy, and has symptoms including seizures An important gene associated with Zellweger Spectrum Disorder is PEX6 (Peroxisomal Biogenesis Factor 6), and among its related pathways/superpathways is Peroxisome. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain.

GeneReviews:

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Related Diseases for Zellweger Spectrum Disorder

Diseases in the Zellweger Syndrome family:

Zellweger Spectrum Disorder

Diseases related to Zellweger Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	adrenoleukodystrophy	28.1	PEX1 PEX10 PEX6
2	neonatal adrenoleukodystrophy	27.1	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
3	zellweger syndrome	26.9	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
4	peroxisome biogenesis disorder 1b	24.9	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
5	peroxisome biogenesis disorder-zellweger syndrome spectrum	11.7
6	refsum disease, classic	9.8
7	cataract	9.8
8	refsum disease, infantile form	9.8
9	deafness enamel hypoplasia nail defects	9.8	PEX1 PEX6
10	peroxisomal disease	9.5	PEX1 PEX2
11	rhizomelic chondrodysplasia punctata, type 1	9.4	PEX12 PEX2
12	peroxisome biogenesis disorder 1a	9.3	PEX1 PEX10
13	peroxisomal biogenesis disorders	7.3	PEX1 PEX10 PEX12 PEX2 PEX3 PEX6

Graphical network of the top 20 diseases related to Zellweger Spectrum Disorder:

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Symptoms & Phenotypes for Zellweger Spectrum Disorder

UMLS symptoms related to Zellweger Spectrum Disorder:

seizures

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Drugs & Therapeutics for Zellweger Spectrum Disorder

Drugs for Zellweger Spectrum Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Betaine

Approved, Nutraceutical

Phase 3

107-43-7

247

Synonyms:

(Carboxymethyl)trimethylammonium hydroxide inner salt

(trimethylammonio)Acetate

(Trimethylammoniumyl)acetate

(Trimethylammoniumyl)acetic acid

1-Carboxy-N,N,N-trimethyl-methanaminium

1-Carboxy-N,N,N-trimethyl-methanaminium hydroxide

1-Carboxy-N,N,N-trimethylmethanaminium inner salt

2-(Trimethylammonio)Acetate

2-N,N,N-trimethylammonio acetate

2-N,N,N-trimethylammonio Acetate

2-N,N,N-trimethylammonio Acetic acid

2-trimethylammonioacetate

abromine

Abromine

Acidin pepsin

Acidin-pepsin

AcidinPepsin

acidol

Acidol

a-Earleine

alpha-Earleine

Aminocoat

Beaufour brand OF betaine citrate

Bet

Betafin

Betafin BCR

Betafin BP

Betaine

Betaine hydrochloride

Betaine orphan brand

Betaine, anhydrous

Betaine, glycine

Boizot brand OF betaine aspartate

Byk brand OF betaine phosphate

C.B.B.

Citrate de bétaïne beaufour

Citrate de bétaïne upsa

Cystadane

Ektasolve ee

FinnStim

Fournier brand OF betaine ascorbate and hydrate

Glycine betaine

Glycinebetaine

Glycocoll betaine

Glycylbetaine

Greenstim

Hepastyl

Hydrochloride, betaine

Logeais brand OF betaine cyclobutyrate

Loramine amb 13

Loramine amb-13

Lycine

N,N,N-trimethylammonioacetate

N,N,N-Trimethylammonioacetate

N,N,N-Trimethylammonioacetic acid

N,N,N-Trimethylglycine

Novobetaine

Orphan brand OF betaine

Oxyneurine

Rubrine C

scorbo Bétaïne

scorbo-Bétaïne

Scorbobétaïne

Stea16

Stea-16

TMG

Trimethylaminoacetate

Trimethylaminoacetic acid

Trimethylammonioacetate

Trimethylammonioacetic acid

Trimethylbetaine glycine

Trimethylglycine

trimethylglycocoll

Trimethylglycocoll

UPSA brand OF betaine citrate

2

Gastrointestinal Agents

Phase 3

3

Hypolipidemic Agents

Phase 3

4

Lipid Regulating Agents

Phase 3

5

Antimetabolites

Phase 3

6

Cholic Acids

7

Bile Acids and Salts

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Betaine and Peroxisome Biogenesis Disorders	Completed	NCT01838941	Phase 3	Betaine
2	Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders	Recruiting	NCT03440905
3	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)	Recruiting	NCT01668186
4	The REPLACE Registry	Recruiting	NCT03115086

Search NIH Clinical Center for Zellweger Spectrum Disorder

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Genetic Tests for Zellweger Spectrum Disorder

Genetic tests related to Zellweger Spectrum Disorder:

#	Genetic test	Affiliating Genes
1	Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ²⁹	PEX12 PEX16 PEX6

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Anatomical Context for Zellweger Spectrum Disorder

MalaCards organs/tissues related to Zellweger Spectrum Disorder:

⁴¹

Bone, Liver, Brain, Eye

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Publications for Zellweger Spectrum Disorder

Articles related to Zellweger Spectrum Disorder:

(show all 21)

#	Title	Authors	Year
1	Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). ( 29482424 )	Warren M....Yano S.	2018
2	Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17A years follow-up. ( 29453832 )	Demaret T....Sokal E.	2018
3	Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. ( 29220678 )	Falkenberg K.D....Waterham H.R.	2017
4	Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. ( 28673549 )	BjA...FjA	2017
5	Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. ( 28784167 )	Blomqvist M....Asin-Cayuela J.	2017
6	Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 26643206 )	Rush E.T....Rizzo W.B.	2016
7	Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 27331009 )	Rush E.T....Rizzo W.B.	2016
8	Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. ( 27392320 )	Shen O....Meiner V.	2016
9	Cholic acid therapy in Zellweger spectrum disorders. ( 27469511 )	Berendse K....Poll-The B.T.	2016
10	Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. ( 27557811 )	Maxit C....Waterham H.R.	2016
11	Eye movement abnormalities in a patient with Zellweger spectrum disorder. ( 26850714 )	Rosini F....Rufa A.	2016
12	Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios. ( 27284103 )	Herzog K....Vaz F.M.	2016
13	Zellweger spectrum disorders: clinical overview and management approach. ( 26627182 )	Klouwer F.C....Poll-The B.T.	2015
14	Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. ( 26319495 )	Wang X.M....Hacia J.G.	2015
15	Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. ( 26287655 )	Berendse K....Poll-The B.T.	2015
16	The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. ( 24503136 )	Hiebler S....Steinberg S.J.	2014
17	High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. ( 25179809 )	Berendse K....Poll-The B.T.	2014
18	Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. ( 25079577 )	Tran C....Mercimek-Mahmutoglu S.	2014
19	Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. ( 23430938 )	Mignarri A....Federico A.	2012
20	Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? ( 21557147 )	Kulkarni K.S....Raymond G.V.	2011
21	Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ( 20301621 )	Pagon R.A....Stephens K.	1993

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Genes for Zellweger Spectrum Disorder

Genes related to Zellweger Spectrum Disorder (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	517.06	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
2	PEX12	Peroxisomal Biogenesis Factor 12	Protein Coding	500	Pathogenic ⁶ Genetic Tests ²⁹
3	PEX2	Peroxisomal Biogenesis Factor 2	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
4	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
5	PEX10	Peroxisomal Biogenesis Factor 10	Protein Coding	400	Pathogenic ⁶
6	PEX16	Peroxisomal Biogenesis Factor 16	Protein Coding	100	Genetic Tests ²⁹
7	PEX3	Peroxisomal Biogenesis Factor 3	Protein Coding	17.06	GeneCards inferred via : Publications (show sections)

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Variations for Zellweger Spectrum Disorder

ClinVar genetic disease variations for Zellweger Spectrum Disorder:

⁶

(show all 37)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh37	Chromosome 7, 92130876: 92130876
2	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh38	Chromosome 7, 92501562: 92501562
3	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh37	Chromosome 7, 92132484: 92132484
4	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh38	Chromosome 7, 92503170: 92503170
5	PEX1	PEX1, 1-BP DEL, 2916A	deletion	Pathogenic
6	PEX2	NM_000318.2(PEX2): c.355C> T (p.Arg119Ter)	single nucleotide variant	Pathogenic	rs61752123	GRCh37	Chromosome 8, 77896060: 77896060
7	PEX2	NM_000318.2(PEX2): c.355C> T (p.Arg119Ter)	single nucleotide variant	Pathogenic	rs61752123	GRCh38	Chromosome 8, 76983824: 76983824
8	PEX12	NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs)	deletion	Pathogenic	rs398123301	GRCh37	Chromosome 17, 33902992: 33902993
9	PEX12	NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs)	deletion	Pathogenic	rs398123301	GRCh38	Chromosome 17, 35575973: 35575974
10	PEX6	NM_000287.3(PEX6): c.1677C> A (p.Asp559Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61732159	GRCh37	Chromosome 6, 42936039: 42936039
11	PEX6	NM_000287.3(PEX6): c.1677C> A (p.Asp559Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61732159	GRCh38	Chromosome 6, 42968301: 42968301
12	PEX1	NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs)	deletion	Pathogenic/Likely pathogenic	rs61750426	GRCh37	Chromosome 7, 92123811: 92123811
13	PEX1	NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs)	deletion	Pathogenic/Likely pathogenic	rs61750426	GRCh38	Chromosome 7, 92494497: 92494497
14	PEX6	NM_000287.3(PEX6): c.2644G> A (p.Val882Ile)	single nucleotide variant	Benign	rs2274516	GRCh37	Chromosome 6, 42932835: 42932835
15	PEX6	NM_000287.3(PEX6): c.2644G> A (p.Val882Ile)	single nucleotide variant	Benign	rs2274516	GRCh38	Chromosome 6, 42965097: 42965097
16	PEX6	NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC	deletion	Uncertain significance	rs772869377	GRCh37	Chromosome 6, 42934195: 42934206
17	PEX6	NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC	deletion	Uncertain significance	rs772869377	GRCh38	Chromosome 6, 42966457: 42966468
18	PEX2	NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs)	deletion	Pathogenic/Likely pathogenic	rs764771123	GRCh37	Chromosome 8, 77896070: 77896076
19	PEX2	NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs)	deletion	Pathogenic/Likely pathogenic	rs764771123	GRCh38	Chromosome 8, 76983834: 76983840
20	PEX10	NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs)	deletion	Pathogenic	rs61752093	GRCh38	Chromosome 1, 2406581: 2406582
21	PEX10	NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs)	deletion	Pathogenic	rs61752093	GRCh37	Chromosome 1, 2338020: 2338021
22	PEX6	NM_000287.3(PEX6): c.1234-7_1234-6dupTT	duplication	Benign/Likely benign	rs200121485	GRCh37	Chromosome 6, 42937545: 42937546
23	PEX6	NM_000287.3(PEX6): c.1234-7_1234-6dupTT	duplication	Benign/Likely benign	rs200121485	GRCh38	Chromosome 6, 42969807: 42969808
24	PEX16	NM_004813.2(PEX16): c.760G> C (p.Val254Leu)	single nucleotide variant	Benign/Likely benign	rs35214605	GRCh37	Chromosome 11, 45935689: 45935689
25	PEX16	NM_004813.2(PEX16): c.760G> C (p.Val254Leu)	single nucleotide variant	Benign/Likely benign	rs35214605	GRCh38	Chromosome 11, 45914138: 45914138
26	PEX12	NM_000286.2(PEX12): c.126+1G> T	single nucleotide variant	Pathogenic	rs144259891	GRCh37	Chromosome 17, 33904914: 33904914
27	PEX12	NM_000286.2(PEX12): c.126+1G> T	single nucleotide variant	Pathogenic	rs144259891	GRCh38	Chromosome 17, 35577895: 35577895
28	PEX6	NM_000287.3(PEX6): c.1360C> T (p.Gln454Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 6, 42937413: 42937413
29	PEX6	NM_000287.3(PEX6): c.1360C> T (p.Gln454Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 6, 42969675: 42969675
30	PEX6	NM_000287.3(PEX6): c.1233+1G> A	single nucleotide variant	Likely pathogenic	rs763459576	GRCh37	Chromosome 6, 42937622: 42937622
31	PEX6	NM_000287.3(PEX6): c.1233+1G> A	single nucleotide variant	Likely pathogenic	rs763459576	GRCh38	Chromosome 6, 42969884: 42969884
32	PEX6	NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs)	deletion	Pathogenic	rs267608227	GRCh37	Chromosome 6, 42934534: 42934534
33	PEX6	NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs)	deletion	Pathogenic	rs267608227	GRCh38	Chromosome 6, 42966796: 42966796
34	PEX1	NM_000466.2(PEX1): c.2992C> T (p.Arg998Ter)	single nucleotide variant	Likely pathogenic	rs61750428	GRCh38	Chromosome 7, 92494331: 92494331
35	PEX1	NM_000466.2(PEX1): c.2992C> T (p.Arg998Ter)	single nucleotide variant	Likely pathogenic	rs61750428	GRCh37	Chromosome 7, 92123645: 92123645
36	PEX26	NM_017929.5(PEX26): c.185G> A (p.Trp62Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 22, 18561327: 18561327
37	PEX26	NM_017929.5(PEX26): c.185G> A (p.Trp62Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 22, 18078561: 18078561

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Expression for Zellweger Spectrum Disorder

Search GEO for disease gene expression data for Zellweger Spectrum Disorder.

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Pathways for Zellweger Spectrum Disorder

Pathways related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peroxisome ³⁷	11.09	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3

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GO Terms for Zellweger Spectrum Disorder

Cellular components related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.8	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
2	integral component of peroxisomal membrane	GO:0005779	9.55	PEX10 PEX12 PEX16 PEX2 PEX3
3	peroxisome	GO:0005777	9.5	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
4	peroxisomal membrane	GO:0005778	9.17	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3

Biological processes related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein ubiquitination	GO:0016567	9.54	PEX10 PEX12 PEX2
2	protein targeting to peroxisome	GO:0006625	9.46	PEX1 PEX12 PEX16 PEX6
3	protein import into peroxisome matrix	GO:0016558	9.35	PEX1 PEX10 PEX12 PEX16 PEX2
4	protein import into peroxisome membrane	GO:0045046	9.32	PEX16 PEX3
5	peroxisome membrane biogenesis	GO:0016557	9.26	PEX16 PEX3
6	peroxisome organization	GO:0007031	9.17	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3

Molecular functions related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity, coupled	GO:0042623	8.96	PEX1 PEX6
2	protein C-terminus binding	GO:0008022	8.92	PEX1 PEX12 PEX16 PEX6

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Sources for Zellweger Spectrum Disorder

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