MCID: NNT017
MIFTS: 51

Neonatal Adrenoleukodystrophy

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 54 60 38
Nald 54 60
Adrenoleukodystrophy Autosomal Neonatal Form 54
Adrenoleukodystrophy, Neonatal 74
Adrenoleukodystrophy Neonatal 56

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 nald, is related to peroxisome biogenesis disorder 1a and peroxisomal acyl-coa oxidase 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 Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and liver, and related phenotypes are nystagmus and seizures

Wikipedia : 77 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 32.9 PEX1 PEX10
2 peroxisomal acyl-coa oxidase deficiency 32.6 ACOX1 CAT PEX5 SCP2
3 peroxisome biogenesis disorder 11b 32.3 PEX1 PEX13
4 peroxisome biogenesis disorder 11a 32.1 PEX1 PEX13
5 zellweger spectrum disorder 31.0 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
6 d-bifunctional protein deficiency 30.7 ACOX1 CAT EHHADH PEX5 SCP2
7 zellweger syndrome 30.1 EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
8 peroxisome biogenesis disorder 1b 29.6 CAT PEX1 PEX10 PEX11B PEX12 PEX13
9 adrenoleukodystrophy 29.5 ACOX1 CAT EHHADH PEX1 PEX10 PEX19
10 refsum disease, classic 28.8 CAT PEX14 PEX16 PEX5 PEX7 SCP2
11 peroxisome biogenesis disorder 4b 11.6
12 peroxisome biogenesis disorder 2b 11.2
13 peroxisome biogenesis disorder 3b 11.2
14 peroxisome biogenesis disorder 5b 11.2
15 peroxisome biogenesis disorder 6b 11.2
16 peroxisome biogenesis disorder 7b 11.2
17 peroxisome biogenesis disorder 2a 11.1
18 peroxisome biogenesis disorder 3a 11.1
19 peroxisome biogenesis disorder 4a 11.1
20 peroxisome biogenesis disorder 5a 11.1
21 peroxisome biogenesis disorder 6a 11.1
22 peroxisome biogenesis disorder 7a 11.1
23 peroxisome biogenesis disorder 8a 11.1
24 peroxisome biogenesis disorder 8b 11.1
25 peroxisome biogenesis disorder 9b 11.1
26 peroxisome biogenesis disorder 10a 11.1
27 peroxisome biogenesis disorder 12a 11.1
28 peroxisome biogenesis disorder 13a 11.1
29 peroxisome biogenesis disorder-zellweger syndrome spectrum 11.1
30 adrenomyeloneuropathy 10.6
31 deafness enamel hypoplasia nail defects 10.3 PEX1 PEX6
32 rhizomelic chondrodysplasia punctata, type 3 10.1 PEX5 PEX7
33 rhizomelic chondrodysplasia punctata 10.1 PEX26 PEX5 PEX7
34 rhizomelic chondrodysplasia punctata, type 5 10.1 PEX5 PEX7
35 mulibrey nanism 10.1 PEX1 PEX5 PEX7
36 refsum disease, infantile form 10.0
37 chondrodysplasia punctata syndrome 10.0 PEX5 PEX7
38 acatalasemia 10.0 CAT PEX5
39 spinal muscular atrophy 9.9
40 progressive muscular atrophy 9.9
41 muscular atrophy 9.9
42 rhizomelic chondrodysplasia punctata, type 2 9.8 CAT PEX5 PEX7
43 alpha-methylacyl-coa racemase deficiency 9.7 ACOX1 SCP2
44 peroxisomal disease 9.6 CAT PEX1 PEX2 PEX5 PEX7
45 rhizomelic chondrodysplasia punctata, type 1 9.3 ACOX1 PEX12 PEX2 PEX5 PEX7 SCP2

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
5 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
6 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
7 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
8 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
9 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
10 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
11 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
12 abnormality of metabolism/homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001939
13 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
14 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
15 dolichocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000268
16 primary adrenal insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0008207
17 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
18 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
19 abnormal palate morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000174
20 abnormality of the liver 60 33 hallmark (90%) Very frequent (99-80%) HP:0001392
21 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
22 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
23 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
24 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
25 abnormality of retinal pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007703
26 abnormality of neuronal migration 60 33 frequent (33%) Frequent (79-30%) HP:0002269
27 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
28 wide anterior fontanel 60 33 frequent (33%) Frequent (79-30%) HP:0000260
29 abnormality of movement 60 Very frequent (99-80%)

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.9 ACOX1 CAT EHHADH IDI1 PEX1 PEX10

MGI Mouse Phenotypes related to Neonatal Adrenoleukodystrophy:

47
# 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 ACOX1 CAT EHHADH PEX1 PEX10 PEX11B
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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Antimetabolites Phase 3,Phase 2
3 Gastrointestinal Agents Phase 3
4 Lipid Regulating Agents Phase 3
5 Hypolipidemic Agents Phase 3
6
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
13
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15 Tocotrienol Investigational Phase 2 6829-55-6
16 Immunosuppressive Agents Phase 2
17 Antineoplastic Agents, Alkylating Phase 2
18 Immunologic Factors Phase 2
19 Tocopherols Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Thioctic Acid Phase 2
22 Vitamins Phase 2
23 Tocotrienols Phase 2
24 Alkylating Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 N-monoacetylcystine Phase 2
27 Alpha-lipoic Acid 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:

42
Eye, Brain, Liver, Skin

Publications for Neonatal Adrenoleukodystrophy

Articles related to Neonatal Adrenoleukodystrophy:

(show all 32)
# Title Authors Year
1
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. ( 29846800 )
2018
2
Novobiocin binding to NalD induces the expression of the MexAB-OprM pump in Pseudomonas aeruginosa. ( 26844397 )
2016
3
PEG-protein interaction induced contraction of NalD chains. ( 24810951 )
2014
4
Interval spectral-domain optical coherence tomography and electrophysiology findings in neonatal adrenoleukodystrophy. ( 23599131 )
2013
5
Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study. ( 23044013 )
2012
6
Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy. ( 21966617 )
2011
7
Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature. ( 18206797 )
2008
8
nalD encodes a second repressor of the mexAB-oprM multidrug efflux operon of Pseudomonas aeruginosa. ( 17028276 )
2006
9
Mutations in PA3574 (nalD) lead to increased MexAB-OprM expression and multidrug resistance in laboratory and clinical isolates of Pseudomonas aeruginosa. ( 15855496 )
2005
10
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
11
Anaesthesia for the patient with neonatal adrenoleukodystrophy. ( 8111945 )
1994
12
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. ( 7605563 )
1993
13
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. ( 7687405 )
1993
14
Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. ( 2290480 )
1990
15
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
16
A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy. ( 2540612 )
1989
17
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). ( 2894756 )
1988
18
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 2445576 )
1987
19
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. ( 3469675 )
1987
20
Ocular pathologic findings in neonatal adrenoleukodystrophy. ( 3658367 )
1987
21
Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts. ( 3819771 )
1987
22
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. ( 2879480 )
1986
23
Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome. ( 2943344 )
1986
24
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. ( 3515938 )
1986
25
Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy. ( 3758277 )
1986
26
Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 3945517 )
1986
27
Neonatal adrenoleukodystrophy. ( 2420940 )
1986
28
Electrophysiologic studies in neonatal adrenoleukodystrophy. ( 2578357 )
1985
29
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. ( 6517102 )
1984
30
Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. ( 6624831 )
1983
31
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. ( 7091298 )
1982
32
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. ( 7176294 )
1982

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:

38
# 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 9.88 PEX11B PEX14 PEX19 PEX3 PEX5 SCP2
2 peroxisomal membrane GO:0005778 9.86 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 10.27 ACOX1 CAT PEX1 PEX10 PEX11B PEX12
7 cytosol GO:0005829 10.17 ACOX1 CAT EHHADH IDI1 PEX1 PEX19
8 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 18)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.97 PEX10 PEX12 PEX13 PEX14 PEX2 PEX5
2 peroxisome organization GO:0007031 9.77 PEX1 PEX10 PEX11B PEX12 PEX14 PEX16
3 neuron migration GO:0001764 9.75 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 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 ACOX1 EHHADH SCP2
7 alpha-linolenic acid metabolic process GO:0036109 9.57 ACOX1 SCP2
8 very long-chain fatty acid metabolic process GO:0000038 9.56 ACOX1 PEX2
9 cerebral cortex cell migration GO:0021795 9.55 PEX13 PEX5
10 peroxisome fission GO:0016559 9.54 PEX11B PEX19
11 protein import into peroxisome matrix, docking GO:0016560 9.54 PEX13 PEX14 PEX5
12 peroxisome membrane biogenesis GO:0016557 9.51 PEX16 PEX3
13 microtubule-based peroxisome localization GO:0060152 9.48 PEX1 PEX13
14 negative regulation of protein homotetramerization GO:1901094 9.46 PEX14 PEX5
15 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX14 PEX6
16 protein import into peroxisome matrix GO:0016558 9.32 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2
17 protein targeting to peroxisome GO:0006625 10.06 ACOX1 CAT EHHADH PEX1 PEX10 PEX12
18 protein transport GO:0015031 10 PEX1 PEX13 PEX14 PEX26 PEX5 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 9.62 CAT EHHADH PEX5 PEX7
2 signaling receptor binding GO:0005102 9.55 ACOX1 CAT EHHADH PEX14 SCP2
3 ATPase activity, coupled GO:0042623 9.26 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 10.24 EHHADH PEX1 PEX10 PEX11B PEX12 PEX13

Sources for Neonatal Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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