MCID: NNT017
MIFTS: 52

Neonatal Adrenoleukodystrophy

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

Aliases & Classifications for Neonatal Adrenoleukodystrophy

MalaCards integrated aliases for Neonatal Adrenoleukodystrophy:

Name: Neonatal Adrenoleukodystrophy 49 55
Adrenoleukodystrophy, Neonatal 36 69
Nald 49 55
Adrenoleukodystrophy Autosomal Neonatal Form 49
Adrenoleukodystrophy Neonatal 51

Characteristics:

Orphanet epidemiological data:

55
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 : 49 This condition doesn't have a summary yet. Please see our page(s) on Peroxisome biogenesis disorder-Zellweger syndrome spectrum and Leukodystrophy.

MalaCards based summary : Neonatal Adrenoleukodystrophy, also known as adrenoleukodystrophy, neonatal, is related to peroxisome biogenesis disorder 1a and peroxisomal acyl-coa oxidase deficiency, and has symptoms including abnormality of the palate, macrocephaly and dolichocephaly. 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 skin, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 72 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 32.6 PEX1 PEX10
2 peroxisomal acyl-coa oxidase deficiency 31.7 ACOX1 CAT PEX5 SCP2
3 zellweger spectrum disorder 31.0 PEX1 PEX12 PEX16 PEX3 PEX6
4 d-bifunctional protein deficiency 30.1 ACOX1 CAT EHHADH PEX5 SCP2
5 adrenoleukodystrophy 29.4 ACOX1 EHHADH PEX1 PEX10 PEX19 PEX26
6 zellweger syndrome 29.2 EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
7 peroxisome biogenesis disorder 1b 28.3 CAT PEX1 PEX10 PEX11B PEX12 PEX13
8 refsum disease, classic 28.2 CAT PEX14 PEX16 PEX5 PEX7 SCP2
9 peroxisome biogenesis disorder 5b 11.1
10 peroxisome biogenesis disorder 2b 11.1
11 peroxisome biogenesis disorder 6b 11.1
12 peroxisome biogenesis disorder 7b 11.1
13 peroxisome biogenesis disorder 3b 11.1
14 peroxisome biogenesis disorder 11b 11.1
15 peroxisome biogenesis disorder 4b 11.1
16 peroxisome biogenesis disorder 5a 10.9
17 peroxisome biogenesis disorder 6a 10.9
18 peroxisome biogenesis disorder-zellweger syndrome spectrum 10.9
19 peroxisome biogenesis disorder 7a 10.9
20 peroxisome biogenesis disorder 2a 10.9
21 peroxisome biogenesis disorder 8a 10.9
22 peroxisome biogenesis disorder 8b 10.9
23 peroxisome biogenesis disorder 9b 10.9
24 peroxisome biogenesis disorder 10a 10.9
25 peroxisome biogenesis disorder 11a 10.9
26 peroxisome biogenesis disorder 12a 10.9
27 peroxisome biogenesis disorder 3a 10.9
28 peroxisome biogenesis disorder 13a 10.9
29 peroxisome biogenesis disorder 4a 10.9
30 deafness enamel hypoplasia nail defects 10.4 PEX1 PEX6
31 rhizomelic chondrodysplasia punctata, type 3 10.1 PEX5 PEX7
32 mulibrey nanism 10.1 PEX1 PEX5 PEX7
33 rhizomelic chondrodysplasia punctata, type 5 10.1 PEX5 PEX7
34 rhizomelic chondrodysplasia punctata 10.1 PEX26 PEX5 PEX7
35 chondrodysplasia punctata syndrome 10.0 PEX5 PEX7
36 peroxisome disorders 9.9
37 refsum disease, infantile form 9.9
38 rhizomelic chondrodysplasia punctata, type 2 9.8 CAT PEX5 PEX7
39 corpus callosum, agenesis of, with abnormal genitalia 9.7
40 spinal muscular atrophy 9.7
41 muscular atrophy 9.7
42 alpha-methylacyl-coa racemase deficiency 9.6 ACOX1 SCP2
43 peroxisomal disease 9.5 CAT PEX1 PEX2 PEX5 PEX7
44 rhizomelic chondrodysplasia punctata, type 1 9.1 ACOX1 PEX12 PEX2 PEX5 PEX7 SCP2
45 peroxisomal biogenesis disorders 8.5 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:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000174
2 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
3 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
4 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
5 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
6 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
8 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
9 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
10 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
11 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
12 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
13 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
14 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
15 abnormality of the liver 55 31 hallmark (90%) Very frequent (99-80%) HP:0001392
16 abnormality of metabolism/homeostasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001939
17 abnormality of neuronal migration 55 31 frequent (33%) Frequent (79-30%) HP:0002269
18 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
19 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
20 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
21 bilateral single transverse palmar creases 55 31 frequent (33%) Frequent (79-30%) HP:0007598
22 wide anterior fontanel 55 31 frequent (33%) Frequent (79-30%) HP:0000260
23 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
24 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
25 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
26 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703
27 primary adrenal insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0008207
28 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
29 abnormality of movement 55 31 hallmark (90%) Very frequent (99-80%) HP:0100022

MGI Mouse Phenotypes related to Neonatal Adrenoleukodystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ACOX1 EHHADH PEX1 PEX10 PEX11B PEX13
2 homeostasis/metabolism MP:0005376 9.77 ACOX1 CAT EHHADH PEX1 PEX10 PEX11B
3 liver/biliary system MP:0005370 9.28 ACOX1 EHHADH PEX1 PEX11B PEX13 PEX2

Drugs & Therapeutics for Neonatal Adrenoleukodystrophy

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

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

38
Liver, Eye, 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
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. ( 7687405 )
1993
8
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. ( 7605563 )
1993
9
Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. ( 2290480 )
1990
10
A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy. ( 2540612 )
1989
11
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
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
Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome. ( 2943344 )
1986
18
Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy. ( 3758277 )
1986
19
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. ( 2879480 )
1986
20
Neonatal adrenoleukodystrophy. ( 2420940 )
1986
21
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. ( 3515938 )
1986
22
Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 3945517 )
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

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 protein complex GO:0043234 9.88 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 9.32 PEX12 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 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 very long-chain fatty acid metabolic process GO:0000038 9.55 ACOX1 PEX2
10 cerebral cortex cell migration GO:0021795 9.54 PEX13 PEX5
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 negative regulation of protein homotetramerization GO:1901094 9.46 PEX14 PEX5
16 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX14 PEX6
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 9.62 CAT EHHADH PEX5 PEX7
2 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

Sources for Neonatal Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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