MCID: NNT017
MIFTS: 52

Neonatal Adrenoleukodystrophy

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

Aliases & Classifications for Neonatal Adrenoleukodystrophy

MalaCards integrated aliases for Neonatal Adrenoleukodystrophy:

Name: Neonatal Adrenoleukodystrophy 53 59
Adrenoleukodystrophy, Neonatal 37 73
Nald 53 59
Adrenoleukodystrophy Autosomal Neonatal Form 53
Adrenoleukodystrophy Neonatal 55

Characteristics:

Orphanet epidemiological data:

59
neonatal adrenoleukodystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



Summaries for Neonatal Adrenoleukodystrophy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 44Disease definitionNeonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).EpidemiologyThe 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 descriptionNALD 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.EtiologyPBD-ZSS is caused by mutations in one of 13 PEX genes encoding peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis.Diagnostic methodsNALD 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 diagnosisThe 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 diagnosisPrenatal 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 counselingNALD is inherited in an autosomal recessive manner so genetic counseling is possible.Management and treatmentThere 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.PrognosisPrognosis 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 adrenoleukodystrophy, neonatal, is related to peroxisome biogenesis disorder 1a and peroxisome biogenesis disorder 11b. An important gene associated with Neonatal Adrenoleukodystrophy is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Peroxisome and PPAR signaling pathway. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are macrocephaly and dolichocephaly

Wikipedia : 76 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 all 45)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 33.1 PEX1 PEX10
2 peroxisome biogenesis disorder 11b 32.4 PEX1 PEX13
3 peroxisome biogenesis disorder 11a 32.2 PEX1 PEX13
4 peroxisomal acyl-coa oxidase deficiency 31.2 ACOX1 CAT PEX5 SCP2
5 zellweger spectrum disorder 30.0 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
6 d-bifunctional protein deficiency 29.4 ACOX1 CAT EHHADH PEX5 SCP2
7 peroxisomal disease 28.6 CAT PEX1 PEX2 PEX5 PEX7
8 adrenoleukodystrophy 27.6 ACOX1 CAT EHHADH PEX1 PEX10 PEX19
9 zellweger syndrome 27.6 EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
10 refsum disease, classic 27.3 CAT PEX14 PEX16 PEX5 PEX7 SCP2
11 peroxisome biogenesis disorder 1b 25.7 CAT PEX1 PEX10 PEX11B PEX12 PEX13
12 peroxisome biogenesis disorder 4b 11.1
13 peroxisome biogenesis disorder 5b 11.1
14 peroxisome biogenesis disorder 2b 11.1
15 peroxisome biogenesis disorder 6b 11.1
16 peroxisome biogenesis disorder 7b 11.1
17 peroxisome biogenesis disorder 3b 11.1
18 peroxisome biogenesis disorder 12a 10.9
19 peroxisome biogenesis disorder 3a 10.9
20 peroxisome biogenesis disorder 13a 10.9
21 peroxisome biogenesis disorder 4a 10.9
22 peroxisome biogenesis disorder 5a 10.9
23 peroxisome biogenesis disorder 6a 10.9
24 peroxisome biogenesis disorder-zellweger syndrome spectrum 10.9
25 peroxisome biogenesis disorder 7a 10.9
26 peroxisome biogenesis disorder 2a 10.9
27 peroxisome biogenesis disorder 8a 10.9
28 peroxisome biogenesis disorder 8b 10.9
29 peroxisome biogenesis disorder 9b 10.9
30 peroxisome biogenesis disorder 10a 10.9
31 deafness enamel hypoplasia nail defects 10.6 PEX1 PEX6
32 rhizomelic chondrodysplasia punctata, type 3 10.2 PEX5 PEX7
33 mulibrey nanism 10.2 PEX1 PEX5 PEX7
34 rhizomelic chondrodysplasia punctata 10.1 PEX26 PEX5 PEX7
35 rhizomelic chondrodysplasia punctata, type 5 10.1 PEX5 PEX7
36 chondrodysplasia punctata syndrome 10.0 PEX5 PEX7
37 peroxisome disorders 9.9
38 refsum disease, infantile form 9.9
39 spinal muscular atrophy 9.7
40 muscular atrophy 9.7
41 corpus callosum, agenesis of, with abnormal genitalia 9.7
42 rhizomelic chondrodysplasia punctata, type 2 9.7 CAT PEX5 PEX7
43 alpha-methylacyl-coa racemase deficiency 9.3 ACOX1 SCP2
44 rhizomelic chondrodysplasia punctata, type 1 8.7 ACOX1 PEX12 PEX2 PEX5 PEX7 SCP2
45 peroxisomal biogenesis disorders 7.7 CAT PEX1 PEX10 PEX12 PEX13 PEX2

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
3 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
4 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
7 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
8 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
9 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
10 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
11 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
12 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
13 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
14 abnormality of the liver 59 32 hallmark (90%) Very frequent (99-80%) HP:0001392
15 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
16 abnormality of neuronal migration 59 32 frequent (33%) Frequent (79-30%) HP:0002269
17 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
18 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
19 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
20 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
21 wide anterior fontanel 59 32 frequent (33%) Frequent (79-30%) HP:0000260
22 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
23 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
24 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
25 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
26 primary adrenal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008207
27 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
28 abnormality of the palate 59 Very frequent (99-80%)
29 abnormality of movement 59 Very frequent (99-80%)
30 abnormal palate morphology 32 hallmark (90%) HP:0000174

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 SCP2 ACOX1 CAT EHHADH IDI1 PEX1

MGI Mouse Phenotypes related to Neonatal Adrenoleukodystrophy:

46
# 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 9.97 SCP2 ACOX1 CAT EHHADH PEX1 PEX10
3 liver/biliary system MP:0005370 9.61 ACOX1 EHHADH PEX1 PEX11B PEX13 PEX2
4 mortality/aging MP:0010768 9.36 CAT EHHADH PEX1 PEX10 PEX11B PEX13

Drugs & Therapeutics for Neonatal Adrenoleukodystrophy

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Gastrointestinal Agents Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents Phase 3
5 Antimetabolites Phase 3,Phase 2
6
rituximab Approved Phase 2 174722-31-7 10201696
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
13
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15 Alkylating Agents Phase 2
16 Thioctic Acid Phase 2
17 Tocopherols Phase 2
18 Tocotrienols Phase 2
19 N-monoacetylcystine Phase 2
20 Vitamins Phase 2
21 Immunosuppressive Agents Phase 2
22 Antilymphocyte Serum Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
26 Alpha-lipoic Acid Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

Search NIH Clinical Center for Neonatal Adrenoleukodystrophy

Genetic Tests for Neonatal Adrenoleukodystrophy

Anatomical Context for Neonatal Adrenoleukodystrophy

MalaCards organs/tissues related to Neonatal Adrenoleukodystrophy:

41
Liver, Eye, Brain, Skin

Publications for Neonatal Adrenoleukodystrophy

Articles related to Neonatal Adrenoleukodystrophy:

(show all 27)
# Title Authors Year
1
Interval spectral-domain optical coherence tomography and electrophysiology findings in neonatal adrenoleukodystrophy. ( 23599131 )
2013
2
Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study. ( 23044013 )
2012
3
Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy. ( 21966617 )
2011
4
Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature. ( 18206797 )
2008
5
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. ( 9671729 )
1998
6
Anaesthesia for the patient with neonatal adrenoleukodystrophy. ( 8111945 )
1994
7
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. ( 7605563 )
1993
8
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. ( 7687405 )
1993
9
Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. ( 2290480 )
1990
10
Adrenoleukodystrophy. The chain shortening of erucic acid (22:1(n-9)) and adrenic acid (22:4(n-6)) is deficient in neonatal adrenoleukodystrophy and normal in X-linked adrenoleukodistrophy skin fibroblasts. ( 2538146 )
1989
11
A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy. ( 2540612 )
1989
12
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). ( 2894756 )
1988
13
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 2445576 )
1987
14
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. ( 3469675 )
1987
15
Ocular pathologic findings in neonatal adrenoleukodystrophy. ( 3658367 )
1987
16
Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts. ( 3819771 )
1987
17
Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 3945517 )
1986
18
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. ( 3515938 )
1986
19
Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy. ( 3758277 )
1986
20
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. ( 2879480 )
1986
21
Neonatal adrenoleukodystrophy. ( 2420940 )
1986
22
Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome. ( 2943344 )
1986
23
Electrophysiologic studies in neonatal adrenoleukodystrophy. ( 2578357 )
1985
24
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. ( 6517102 )
1984
25
Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. ( 6624831 )
1983
26
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. ( 7176294 )
1982
27
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. ( 7091298 )
1982

Variations for Neonatal Adrenoleukodystrophy

ClinVar genetic disease variations for Neonatal Adrenoleukodystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX5 NM_001131025.1(PEX5): c.1578T> G (p.Asn526Lys) single nucleotide variant Pathogenic rs61752138 GRCh37 Chromosome 12, 7362296: 7362296
2 PEX5 NM_001131025.1(PEX5): c.1578T> G (p.Asn526Lys) single nucleotide variant Pathogenic rs61752138 GRCh38 Chromosome 12, 7209700: 7209700
3 PEX5 NM_001131025.1(PEX5): c.815T> C (p.Met272Thr) single nucleotide variant Benign/Likely benign rs76708142 GRCh37 Chromosome 12, 7355269: 7355269
4 PEX5 NM_001131025.1(PEX5): c.815T> C (p.Met272Thr) single nucleotide variant Benign/Likely benign rs76708142 GRCh38 Chromosome 12, 7202673: 7202673
5 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 7351605: 7351605
6 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 7199009: 7199009

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:

37
# 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 protein-containing complex GO:0032991 9.85 PEX11B PEX14 PEX19 PEX3 PEX5 SCP2
2 peroxisomal membrane GO:0005778 9.83 ACOX1 CAT PEX1 PEX10 PEX11B PEX12
3 peroxisomal matrix GO:0005782 9.65 ACOX1 CAT EHHADH PEX7 SCP2
4 peroxisomal importomer complex GO:1990429 9.5 PEX12 PEX13 PEX14
5 integral component of peroxisomal membrane GO:0005779 9.23 PEX10 PEX11B PEX12 PEX13 PEX16 PEX2
6 membrane GO:0016020 10.31 ACOX1 CAT PEX1 PEX10 PEX11B PEX12
7 peroxisome GO:0005777 10.13 ACOX1 CAT EHHADH IDI1 PEX1 PEX10

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.99 PEX1 PEX13 PEX14 PEX26 PEX5 PEX7
2 peroxisome organization GO:0007031 9.97 PEX1 PEX10 PEX11B PEX12 PEX14 PEX16
3 neuron migration GO:0001764 9.74 PEX13 PEX5 PEX7
4 fatty acid beta-oxidation GO:0006635 9.72 ACOX1 EHHADH PEX2 PEX5 PEX7
5 protein import into peroxisome membrane GO:0045046 9.65 PEX16 PEX19 PEX26 PEX3 PEX5
6 protein import into peroxisome matrix GO:0016558 9.61 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2
7 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 ACOX1 EHHADH SCP2
8 alpha-linolenic acid metabolic process GO:0036109 9.56 ACOX1 SCP2
9 cerebral cortex cell migration GO:0021795 9.55 PEX13 PEX5
10 very long-chain fatty acid metabolic process GO:0000038 9.54 ACOX1 PEX2
11 protein import into peroxisome matrix, docking GO:0016560 9.54 PEX13 PEX14 PEX5
12 peroxisome fission GO:0016559 9.52 PEX11B PEX19
13 peroxisome membrane biogenesis GO:0016557 9.49 PEX16 PEX3
14 microtubule-based peroxisome localization GO:0060152 9.48 PEX1 PEX13
15 protein import into peroxisome matrix, translocation GO:0016561 9.46 PEX14 PEX6
16 negative regulation of protein homotetramerization GO:1901094 9.43 PEX14 PEX5
17 protein targeting to peroxisome GO:0006625 9.1 PEX1 PEX12 PEX16 PEX19 PEX6 PEX7

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.67 CAT EHHADH PEX5 PEX7
2 signaling receptor binding GO:0005102 9.55 ACOX1 CAT EHHADH PEX14 SCP2
3 ATPase activity, coupled GO:0042623 9.32 PEX1 PEX6
4 protein N-terminus binding GO:0047485 9.26 ACOX1 PEX14 PEX19 PEX5
5 protein C-terminus binding GO:0008022 9.02 PEX1 PEX12 PEX16 PEX26 PEX6
6 protein binding GO:0005515 10.19 CAT EHHADH PEX1 PEX10 PEX11B PEX12

Sources for Neonatal Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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