NALD
MCID: NNT017
MIFTS: 48

Neonatal Adrenoleukodystrophy (NALD)

Categories: Endocrine diseases, Eye diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neonatal Adrenoleukodystrophy

MalaCards integrated aliases for Neonatal Adrenoleukodystrophy:

Name: Neonatal Adrenoleukodystrophy 52 58 36
Nald 52 58
Adrenoleukodystrophy Autosomal Neonatal Form 52
Adrenoleukodystrophy, Neonatal 71
Adrenoleukodystrophy Neonatal 54

Characteristics:

Orphanet epidemiological data:

58
neonatal adrenoleukodystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Neonatal Adrenoleukodystrophy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 44 Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia , leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Epidemiology The estimated birth prevalence for PBD-ZSS is 1/50,000 in North America and 1/500,000 in Japan. More than half of patients with PBD-ZSS have the NALD-IRD forms. Clinical description NALD has an onset at birth or early infancy, but manifestations may be subtle enough that it is not diagnosed until late infancy or early childhood (or when a leukodystrophy develops). It is characterized by hypotonia, seizures , diffuse encephalopathy , sensorineural hearing loss , peripheral neuropathy , mild facial dysmorphism (hypertelorism and a flat midface), failure to thrive and severely delayed psychomotor development. Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts . Hepatic dysfunction is first displayed in infants with jaundice and later in some with episodes of intracranial bleeding due to vitamin K-responsive coagulopathy. Adrenal insufficiency and renal calcium oxalate stones can present in older children. Vision and hearing dysfunction are progressive and result in blindness and deafness. Osteoporosis and fractures can occur in patients who are less mobile. Neurological regression reflects a leukodystrophy, leading to the loss of previously acquired skills, dementia and ultimately death. Etiology PBD-ZSS is caused by mutations in one of 13 PEX genes encoding peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis. Diagnostic methods NALD is suspected on physical examination and confirmed with biochemical evaluation. Plasma very-long-chain fatty acid (VLCFA) levels indicate defects in peroxisomal fatty acid metabolism with elevated plasma concentrations of C26:0 and C26:1 and elevated ratios of C24/C22 and C26/C22. Erythrocyte membrane concentrations of plasmalogens C16 and C18 are reduced. Plasma pipecolic acid levels and bile acid intermediates (THCH and DHCA) are increased. Sequence analysis of the 13 PEX genes can be performed. MRI can be used to identify leukodystrophy, neuronal migration defects or other brain malformations. Differential diagnosis The main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures, liver dysfunction or leukodystrophy. X-linked adrenoleukodystrophy (see this term) should not be confused with NALD. Antenatal diagnosis Prenatal screening of cultured amniocytes and chorionic villus sampling for VLCFA and plasmalogen synthesis is possible. If both disease causing alleles in parents have been identified, prenatal diagnosis can be performed as well as preimplantation genetic diagnosis . Genetic counseling NALD is inherited in an autosomal recessive manner so genetic counseling is possible. Management and treatment There is no cure for NALD and treatment is symptomatic. Cataracts should be removed in early infancy and glasses used to improve vision. Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound. Hepatic coagulopathy can be treated with vitamin K supplementation and liver function may improve with primary bile acid therapy. A gastrostomy tube may be necessary to allow for adequate calorie intake. Foods rich in phytanic acid (such as cow's milk) should be restricted. Docosahexanoic acid can be provided. Standard epileptic drugs are used for seizures. Lifelong follow up is needed to monitor changes in hearing, vision and liver function. Prognosis Prognosis is poor with most patients dying in infancy and early childhood. Some have lived until their teenage years. Visit the Orphanet disease page for more resources.

MalaCards based summary : Neonatal Adrenoleukodystrophy, also known as nald, is related to peroxisomal acyl-coa oxidase deficiency and d-bifunctional protein deficiency. An important gene associated with Neonatal Adrenoleukodystrophy is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisome and PPAR signaling pathway. The drugs Betaine and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are nystagmus and seizures

KEGG : 36 The neonatal form of adrenoleukodystrophy (NALD) is a peroxisomal disorder caused by mutation of one of the peroxisomal biogenesis factor genes.

Wikipedia : 74 Neonatal adrenoleukodystrophy is an inborn error of peroxisome biogenesis. It is part of the Zellweger... more...

Related Diseases for Neonatal Adrenoleukodystrophy

Diseases related to Neonatal Adrenoleukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 peroxisomal acyl-coa oxidase deficiency 33.1 SCP2 ACOX1
2 d-bifunctional protein deficiency 30.7 SCP2 PEX6 PEX26 PEX10 EHHADH ACOX1
3 peroxisome biogenesis disorder 1a 29.9 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
4 zellweger spectrum disorder 29.0 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
5 peroxisome biogenesis disorder 1b 27.4 SCP2 PEX7 PEX6 PEX5 PEX3 PEX26
6 leukodystrophy 26.1 SCP2 PEX6 PEX5 PEX3 PEX26 PEX2
7 zellweger syndrome 25.7 SCP2 PEX7 PEX6 PEX5 PEX3 PEX26
8 adrenoleukodystrophy 25.5 SCP2 PEX7 PEX6 PEX5 PEX3 PEX26
9 refsum disease, classic 25.4 SCP2 PEX7 PEX6 PEX5 PEX3 PEX26
10 peroxisomal disease 25.0 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
11 peroxisome biogenesis disorder 4b 11.7
12 peroxisome biogenesis disorder 2b 11.4
13 peroxisome biogenesis disorder 3b 11.4
14 peroxisome biogenesis disorder 5b 11.4
15 peroxisome biogenesis disorder 6b 11.4
16 peroxisome biogenesis disorder 7b 11.4
17 peroxisome biogenesis disorder 11b 11.4
18 peroxisome biogenesis disorder 2a 11.2
19 peroxisome biogenesis disorder 3a 11.2
20 peroxisome biogenesis disorder 4a 11.2
21 peroxisome biogenesis disorder 5a 11.2
22 peroxisome biogenesis disorder 6a 11.2
23 peroxisome biogenesis disorder 7a 11.2
24 peroxisome biogenesis disorder 8a 11.2
25 peroxisome biogenesis disorder 8b 11.2
26 peroxisome biogenesis disorder 9b 11.2
27 peroxisome biogenesis disorder 10a 11.2
28 peroxisome biogenesis disorder 11a 11.2
29 peroxisome biogenesis disorder 12a 11.2
30 peroxisome biogenesis disorder 13a 11.2
31 adrenomyeloneuropathy 10.6
32 deafness enamel hypoplasia nail defects 10.3 PEX6 PEX1
33 stenotrophomonas maltophilia infection 10.3
34 retinitis pigmentosa 62 10.2 PEX2 PEX1
35 retinitis pigmentosa 10.2
36 neuroretinitis 10.2
37 retinitis 10.2
38 hypotonia 10.1
39 seizure disorder 10.1
40 juvenile glaucoma 10.0 PEX5 PEX19
41 3-methylglutaconic aciduria, type iii 10.0
42 premature ovarian failure 7 10.0
43 peroxisome biogenesis disorder 14b 10.0
44 hepatorenal syndrome 10.0
45 visual epilepsy 10.0
46 refsum disease, infantile form 10.0
47 mulibrey nanism 9.9 PEX7 PEX5 PEX1
48 epidermolysis bullosa, junctional, herlitz type 9.9 PEX2 PEX1
49 gastroesophageal reflux 9.9
50 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9

Graphical network of the top 20 diseases related to Neonatal Adrenoleukodystrophy:



Diseases related to Neonatal Adrenoleukodystrophy

Symptoms & Phenotypes for Neonatal Adrenoleukodystrophy

Human phenotypes related to Neonatal Adrenoleukodystrophy:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
5 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
6 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
7 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
10 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
11 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
12 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
13 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
14 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
15 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
16 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
17 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
18 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
19 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
20 abnormality of the liver 58 31 hallmark (90%) Very frequent (99-80%) HP:0001392
21 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
22 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
23 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
24 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
25 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
26 abnormality of neuronal migration 58 31 frequent (33%) Frequent (79-30%) HP:0002269
27 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
28 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
29 abnormality of movement 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Neonatal Adrenoleukodystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.98 PEX16 PEX26
2 Decreased viability GR00402-S-2 9.98 ACOX1 CAT EHHADH IDI1 PEX1 PEX10
3 no effect GR00402-S-1 9.6 ACOX1 CAT EHHADH IDI1 PEX1 PEX10

MGI Mouse Phenotypes related to Neonatal Adrenoleukodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 ACOX1 EHHADH PEX1 PEX10 PEX11B PEX13
2 homeostasis/metabolism MP:0005376 10 ACOX1 CAT EHHADH IDI1 PEX1 PEX10
3 liver/biliary system MP:0005370 9.61 ACOX1 EHHADH PEX1 PEX11B PEX13 PEX2
4 mortality/aging MP:0010768 9.4 CAT EHHADH IDI1 PEX1 PEX10 PEX11B

Drugs & Therapeutics for Neonatal Adrenoleukodystrophy

Drugs for Neonatal Adrenoleukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Hypolipidemic Agents Phase 3
3 Gastrointestinal Agents Phase 3
4 Antimetabolites Phase 3
5 Lipid Regulating Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine

Search NIH Clinical Center for Neonatal Adrenoleukodystrophy

Genetic Tests for Neonatal Adrenoleukodystrophy

Anatomical Context for Neonatal Adrenoleukodystrophy

MalaCards organs/tissues related to Neonatal Adrenoleukodystrophy:

40
Liver, Eye, Brain, Skin, Bone, Bone Marrow, Cortex

Publications for Neonatal Adrenoleukodystrophy

Articles related to Neonatal Adrenoleukodystrophy:

(show top 50) (show all 270)
# Title Authors PMID Year
1
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 61 54 6
10862081 2000
2
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 54 61 6
9683594 1998
3
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6 61
17041890 2006
4
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 6 61
14630978 2004
5
Zellweger Spectrum Disorder 61 6
20301621 2003
6
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 61 6
12851857 2003
7
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 6 61
12717447 2003
8
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 61 6
10441568 1999
9
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 61 6
10332040 1999
10
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 6 61
7541833 1995
11
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. 61 6
3515938 1986
12
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 6
29220678 2017
13
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. 6
23590336 2014
14
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. 6
22581968 2012
15
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 6
23430938 2012
16
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
17
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 6
21392394 2011
18
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 6
20647552 2010
19
Mutations in PEX10 are a cause of autosomal recessive ataxia. 6
20695019 2010
20
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 6
19127411 2009
21
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 6
15858711 2005
22
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
23
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. 6
11355018 2001
24
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 6
10528859 1999
25
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13. 6
9480815 1998
26
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 6
9090381 1997
27
Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation. 6
8982949 1996
28
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 6
7719337 1995
29
A new type of peroxisomal disorder with variable expression in liver and fibroblasts. 6
7931872 1994
30
A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 6
1546315 1992
31
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 6
2454948 1988
32
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. 54 61
9671729 1998
33
Targeting of human catalase to peroxisomes is dependent upon a novel COOH-terminal peroxisomal targeting sequence. 61 54
8769411 1996
34
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. 61 54
7790377 1995
35
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. 54 61
7687405 1993
36
Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes. 54 61
2085845 1990
37
Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. 54 61
1689088 1990
38
Lack of the Major Multifunctional Catalase KatA in Pseudomonas aeruginosa Accelerates Evolution of Antibiotic Resistance in Ciprofloxacin-Treated Biofilms. 61
31307984 2019
39
Combination of MexAB-OprM overexpression and mutations in efflux regulators, PBPs and chaperone proteins is responsible for ceftazidime/avibactam resistance in Pseudomonas aeruginosa clinical isolates from US hospitals. 61
31225882 2019
40
Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients. 61
31194684 2019
41
A preliminary study of the effect of naldemedine tosylate on opioid-induced nausea and vomiting. 61
31183560 2019
42
Interplay between MexAB-OprM and MexEF-OprN in clinical isolates of Pseudomonas aeruginosa. 61
30405166 2018
43
Nitro and oxy-PAHs bounded in PM2.5 and PM1.0 under different weather conditions at Mount Tai in Eastern China: Sources, long-distance transport, and cancer risk assessment. 61
29890605 2018
44
Mutational analyses of regulatory genes, mexR, nalC, nalD and mexZ of mexAB-oprM and mexXY operons, in efflux pump hyperexpressing multidrug-resistant clinical isolates of Pseudomonas aeruginosa. 61
29846800 2018
45
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). 61
29482424 2018
46
Evolved Aztreonam Resistance Is Multifactorial and Can Produce Hypervirulence in Pseudomonas aeruginosa. 61
29089424 2017
47
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. 61
28320181 2017
48
Resistance of Animal Strains of Pseudomonas aeruginosa to Carbapenems. 61
29033910 2017
49
The complement component C5 promotes liver steatosis and inflammation in murine non-alcoholic liver disease model. 61
27477770 2016
50
Mutations in NalC induce MexAB-OprM overexpression resulting in high level of aztreonam resistance in environmental isolates of Pseudomonas aeruginosa. 61
27412168 2016

Variations for Neonatal Adrenoleukodystrophy

Expression for Neonatal Adrenoleukodystrophy

Search GEO for disease gene expression data for Neonatal Adrenoleukodystrophy.

Pathways for Neonatal Adrenoleukodystrophy

Pathways related to Neonatal Adrenoleukodystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Peroxisome hsa04146

GO Terms for Neonatal Adrenoleukodystrophy

Cellular components related to Neonatal Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.27 SCP2 PEX6 PEX5 PEX3 PEX26 PEX2
2 protein-containing complex GO:0032991 9.88 SCP2 PEX5 PEX3 PEX19 PEX14 PEX11B
3 peroxisomal membrane GO:0005778 9.86 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
4 integral component of peroxisomal membrane GO:0005779 9.7 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
5 peroxisomal matrix GO:0005782 9.65 SCP2 PEX7 EHHADH CAT ACOX1
6 peroxisome GO:0005777 9.6 SCP2 PEX7 PEX6 PEX5 PEX3 PEX26
7 peroxisomal importomer complex GO:1990429 9.5 PEX14 PEX13 PEX12

Biological processes related to Neonatal Adrenoleukodystrophy according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10 PEX7 PEX5 PEX26 PEX14 PEX13 PEX1
2 protein ubiquitination GO:0016567 9.99 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3 protein import into peroxisome matrix GO:0016558 9.85 PEX7 PEX6 PEX5 PEX26 PEX2 PEX16
4 peroxisome organization GO:0007031 9.77 SCP2 PEX7 PEX6 PEX5 PEX3 PEX2
5 neuron migration GO:0001764 9.75 PEX7 PEX5 PEX13
6 fatty acid beta-oxidation GO:0006635 9.72 PEX7 PEX5 PEX2 EHHADH ACOX1
7 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
8 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 SCP2 EHHADH ACOX1
9 very long-chain fatty acid metabolic process GO:0000038 9.57 PEX2 ACOX1
10 alpha-linolenic acid metabolic process GO:0036109 9.56 SCP2 ACOX1
11 cerebral cortex cell migration GO:0021795 9.55 PEX5 PEX13
12 peroxisome fission GO:0016559 9.54 PEX19 PEX11B
13 protein import into peroxisome matrix, docking GO:0016560 9.54 PEX5 PEX14 PEX13
14 protein targeting to peroxisome GO:0006625 9.53 SCP2 PEX7 PEX6 PEX5 PEX26 PEX2
15 peroxisome membrane biogenesis GO:0016557 9.49 PEX3 PEX16
16 negative regulation of protein homotetramerization GO:1901094 9.48 PEX5 PEX14
17 microtubule-based peroxisome localization GO:0060152 9.46 PEX13 PEX1
18 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX6 PEX14

Molecular functions related to Neonatal Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.22 SCP2 PEX7 PEX6 PEX5 PEX3 PEX26
2 enzyme binding GO:0019899 9.56 PEX7 PEX5 EHHADH CAT
3 protein N-terminus binding GO:0047485 9.26 PEX5 PEX19 PEX14 ACOX1
4 ATPase activity, coupled GO:0042623 9.16 PEX6 PEX1
5 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1

Sources for Neonatal Adrenoleukodystrophy

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
Content
Loading form....