NALD
MCID: NNT017
MIFTS: 51

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 20 58 36
Nald 20 58
Adrenoleukodystrophy Autosomal Neonatal Form 20
Adrenoleukodystrophy, Neonatal 70
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

GARD : 20 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.

MalaCards based summary : Neonatal Adrenoleukodystrophy, also known as nald, is related to peroxisome biogenesis disorder 6b and peroxisome biogenesis disorder 6a. An important gene associated with Neonatal Adrenoleukodystrophy is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisome and Propanoate metabolism. The drugs Betaine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and bone marrow, and related phenotypes are hyperreflexia and eeg abnormality

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

Wikipedia : 73 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 62)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 6b 31.8 PLCH2 PEX10
2 peroxisome biogenesis disorder 6a 31.5 PLCH2 PEX10
3 d-bifunctional protein deficiency 31.4 EHHADH ACOX1
4 peroxisome biogenesis disorder 1a 28.6 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
5 adrenoleukodystrophy 28.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
6 zellweger spectrum disorder 28.1 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
7 peroxisome biogenesis disorder 1b 28.0 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
8 leukodystrophy 27.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
9 zellweger syndrome 27.1 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
10 peroxisomal disease 27.1 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
11 refsum disease, classic 26.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 peroxisomal acyl-coa oxidase deficiency 11.6
13 peroxisome biogenesis disorder 4b 11.2
14 peroxisome biogenesis disorder 2b 11.2
15 peroxisome biogenesis disorder 3b 11.2
16 peroxisome biogenesis disorder 5b 11.2
17 peroxisome biogenesis disorder 7b 11.2
18 peroxisome biogenesis disorder 11b 11.2
19 peroxisome biogenesis disorder 2a 11.0
20 peroxisome biogenesis disorder 3a 11.0
21 peroxisome biogenesis disorder 4a 11.0
22 peroxisome biogenesis disorder 5a 11.0
23 peroxisome biogenesis disorder 7a 11.0
24 peroxisome biogenesis disorder 8a 11.0
25 peroxisome biogenesis disorder 8b 11.0
26 peroxisome biogenesis disorder 9b 11.0
27 peroxisome biogenesis disorder 10a 11.0
28 peroxisome biogenesis disorder 11a 11.0
29 peroxisome biogenesis disorder 12a 11.0
30 peroxisome biogenesis disorder 13a 11.0
31 adrenomyeloneuropathy 10.6
32 retinitis pigmentosa 10.2
33 neuroretinitis 10.2
34 retinitis 10.2
35 hypotonia 10.1
36 hypomagnesemia 1, intestinal 10.1 PEX26 PEX12 PEX1
37 rhizomelic chondrodysplasia punctata, type 2 10.1 PEX5 PEX16
38 epidermolysis bullosa, junctional, herlitz type 10.0 PEX2 PEX1
39 3-methylglutaconic aciduria, type iii 10.0
40 premature ovarian failure 7 10.0
41 peroxisome biogenesis disorder 14b 10.0
42 hepatorenal syndrome 10.0
43 refsum disease, infantile form 10.0
44 seizure disorder 10.0
45 stenotrophomonas maltophilia infection 10.0
46 rhizomelic chondrodysplasia punctata, type 1 9.9 PEX6 PEX5 PEX13 ACOX1
47 gastroesophageal reflux 9.9
48 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
49 spinal muscular atrophy 9.9
50 progressive muscular atrophy 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 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
4 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
9 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
11 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
12 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
13 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
14 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
15 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
16 abnormality of the liver 58 31 hallmark (90%) Very frequent (99-80%) HP:0001392
17 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939
18 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
19 seizure 31 hallmark (90%) HP:0001250
20 hypotonia 31 hallmark (90%) HP:0001252
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 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
27 wide anterior fontanel 58 31 frequent (33%) Frequent (79-30%) HP:0000260
28 abnormality of neuronal migration 58 31 frequent (33%) Frequent (79-30%) HP:0002269
29 seizures 58 Very frequent (99-80%)
30 muscular hypotonia 58 Very frequent (99-80%)
31 abnormality of movement 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Neonatal Adrenoleukodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ACOX1 EHHADH PEX1 PEX11B PEX13 PEX2

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, 6915-17-9 248
2 Antimetabolites Phase 3
3 Gastrointestinal Agents Phase 3
4 Hypolipidemic Agents 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, Bone Marrow, Cortex, Retina, Brain, Bone

Publications for Neonatal Adrenoleukodystrophy

Articles related to Neonatal Adrenoleukodystrophy:

(show top 50) (show all 320)
# Title Authors PMID Year
1
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 6 54 61
10862081 2000
2
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 61 6 54
9683594 1998
3
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6 61
17041890 2006
4
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. 61 6
16257970 2006
5
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 61 6
15098231 2004
6
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 6 61
14630978 2004
7
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 6 61
14571262 2004
8
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 6 61
12851857 2003
9
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 61 6
12794690 2003
10
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 61 6
12717447 2003
11
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 6 61
12402331 2002
12
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 61 6
10441568 1999
13
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 61 6
10332040 1999
14
Identification of a common PEX1 mutation in Zellweger syndrome. 61 6
10447258 1999
15
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6 61
9398848 1997
16
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 61 6
7541833 1995
17
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. 6 61
3515938 1986
18
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing. 6
31724321 2020
19
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 6
29220678 2017
20
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
21
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 6
28944237 2017
22
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. 6
27763634 2017
23
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 6
27124789 2016
24
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 6
27872819 2016
25
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
26
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 6
27353947 2016
27
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 6
27090541 2016
28
Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 6
26700162 2016
29
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 6
26287655 2016
30
Low bone mineral density is a common feature of Zellweger spectrum disorders. 6
26643206 2016
31
Friedreich Ataxia in Classical Galactosaemia. 6
26219880 2016
32
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 6
27882258 2016
33
Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins. 6
26627908 2015
34
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. 6
26275793 2015
35
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 6
26387595 2015
36
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
37
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
38
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 6
25179809 2014
39
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 6
25079577 2014
40
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. 6
23590336 2014
41
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 6
24016303 2013
42
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. 6
22894767 2012
43
The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 6
22471590 2012
44
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. 6
22581968 2012
45
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 6
23430938 2012
46
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
47
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 6
21465523 2011
48
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 6
21392394 2011
49
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 6
21031596 2011
50
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. 6
20681997 2011

Variations for Neonatal Adrenoleukodystrophy

ClinVar genetic disease variations for Neonatal Adrenoleukodystrophy:

6 (show top 50) (show all 498)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) SNV Pathogenic 2152 rs62641228 GRCh37: 22:18562701-18562701
GRCh38: 22:18079935-18079935
2 PEX26 NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) SNV Pathogenic 2156 rs74315506 GRCh37: 22:18561144-18561144
GRCh38: 22:18078378-18078378
3 PEX26 NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) SNV Pathogenic 2157 rs61752132 GRCh37: 22:18561276-18561276
GRCh38: 22:18078510-18078510
4 PEX26 NM_001127649.3(PEX26):c.254dup (p.Cys86fs) Duplication Pathogenic 2158 rs61752133 GRCh37: 22:18562662-18562663
GRCh38: 22:18079896-18079897
5 PEX10 NM_002617.3(PEX10):c.870C>G (p.His290Gln) SNV Pathogenic 6771 rs61752095 GRCh37: 1:2337965-2337965
GRCh38: 1:2406526-2406526
6 PEX10 NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) SNV Pathogenic 6772 rs61750434 GRCh37: 1:2340118-2340118
GRCh38: 1:2408679-2408679
7 PEX13 NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) SNV Pathogenic 7704 rs61752115 GRCh37: 2:61275670-61275670
GRCh38: 2:61048535-61048535
8 PEX6 NM_000287.4(PEX6):c.621_882+2del Deletion Pathogenic 8125 rs1554128347 GRCh37: 6:42946005-42946268
GRCh38: 6:42978267-42978530
9 PEX6 PEX6, 269-BP DEL/21-BP INS Indel Pathogenic 8126 GRCh37:
GRCh38:
10 PEX2 NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) SNV Pathogenic 13705 rs61752119 GRCh37: 8:77896252-77896252
GRCh38: 8:76984016-76984016
11 PEX6 NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) SNV Pathogenic 30195 rs387906809 GRCh37: 6:42936115-42936115
GRCh38: 6:42968377-42968377
12 PEX16 NM_057174.2(PEX16):c.953-104del Deletion Pathogenic 30351 rs1590793006 GRCh37: 11:45931832-45931832
GRCh38: 11:45910281-45910281
13 PEX16 NM_057174.2(PEX16):c.953-96A>G SNV Pathogenic 30352 rs397514472 GRCh37: 11:45931824-45931824
GRCh38: 11:45910273-45910273
14 PEX16 PEX16, DEL, EX11 Deletion Pathogenic 30353 GRCh37:
GRCh38:
15 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) SNV Pathogenic 13704 rs61752123 GRCh37: 8:77896060-77896060
GRCh38: 8:76983824-76983824
16 PEX11B NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter) SNV Pathogenic 39723 rs397515419 GRCh37: 1:145517280-145517280
GRCh38: 1:145917809-145917809
17 PEX2 NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) SNV Pathogenic 139590 rs61752127 GRCh37: 8:77895746-77895746
GRCh38: 8:76983510-76983510
18 PEX10 NM_153818.1(PEX10):c.764dup (p.Leu256fs) Duplication Pathogenic 6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
19 PEX10 NM_002617.3(PEX10):c.337del (p.Leu113fs) Deletion Pathogenic 162431 rs724159999 GRCh37: 1:2340154-2340154
GRCh38: 1:2408715-2408715
20 PEX10 NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) SNV Pathogenic 162432 rs724160000 GRCh37: 1:2338005-2338005
GRCh38: 1:2406566-2406566
21 PEX10 , PLCH2 NM_153818.1(PEX10):c.2T>C (p.Met1Thr) SNV Pathogenic 162434 rs724160002 GRCh37: 1:2343940-2343940
GRCh38: 1:2412501-2412501
22 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
23 PEX2 NM_000318.3(PEX2):c.865dup (p.Ser289fs) Duplication Pathogenic 162495 rs724160029 GRCh37: 8:77895549-77895550
GRCh38: 8:76983313-76983314
24 PEX10 NM_002617.4(PEX10):c.814_815del (p.Leu272fs) Deletion Pathogenic 296273 rs61752093 GRCh37: 1:2338020-2338021
GRCh38: 1:2406581-2406582
25 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) SNV Pathogenic 371782 rs149806989 GRCh37: 7:92147282-92147282
GRCh38: 7:92517968-92517968
26 PEX1 NM_000466.3(PEX1):c.2T>C (p.Met1Thr) SNV Pathogenic 371746 rs766020928 GRCh37: 7:92157748-92157748
GRCh38: 7:92528434-92528434
27 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) Deletion Pathogenic 224321 rs267608216 GRCh37: 6:42937452-42937459
GRCh38: 6:42969714-42969721
28 PEX11B NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) SNV Pathogenic 453307 rs781984979 GRCh37: 1:145522734-145522734
GRCh38: 1:145912346-145912346
29 PEX6 NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) SNV Pathogenic 492968 rs61753230 GRCh37: 6:42933000-42933000
GRCh38: 6:42965262-42965262
30 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 GRCh37: 22:18561170-18561171
GRCh38: 22:18078404-18078405
31 PEX6 NM_000287.4(PEX6):c.1947del (p.Ile650fs) Deletion Pathogenic 495796 rs267608227 GRCh37: 6:42934534-42934534
GRCh38: 6:42966796-42966796
32 PEX10 , PLCH2 NM_153818.1(PEX10):c.2T>C (p.Met1Thr) SNV Pathogenic 162434 rs724160002 GRCh37: 1:2343940-2343940
GRCh38: 1:2412501-2412501
33 PEX13 NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) SNV Pathogenic 375270 rs61752113 GRCh37: 2:61275630-61275630
GRCh38: 2:61048495-61048495
34 PEX6 NM_000287.4(PEX6):c.1962-1G>A SNV Pathogenic 550358 rs267608229 GRCh37: 6:42934396-42934396
GRCh38: 6:42966658-42966658
35 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
36 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) SNV Pathogenic 194165 rs267608241 GRCh37: 6:42933450-42933450
GRCh38: 6:42965712-42965712
37 PEX6 NM_000287.4(PEX6):c.802_815del (p.Asp268fs) Deletion Pathogenic 555443 rs63749004 GRCh37: 6:42946074-42946087
GRCh38: 6:42978336-42978349
38 PEX6 NM_000287.4(PEX6):c.517del (p.Ser173fs) Deletion Pathogenic 557701 rs61753212 GRCh37: 6:42946372-42946372
GRCh38: 6:42978634-42978634
39 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) SNV Pathogenic 194165 rs267608241 GRCh37: 6:42933450-42933450
GRCh38: 6:42965712-42965712
40 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) SNV Pathogenic 2152 rs62641228 GRCh37: 22:18562701-18562701
GRCh38: 22:18079935-18079935
41 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 GRCh37: 22:18561170-18561171
GRCh38: 22:18078404-18078405
42 PEX6 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) SNV Pathogenic 198709 rs34324426 GRCh37: 6:42935188-42935188
GRCh38: 6:42967450-42967450
43 PEX10 NM_153818.1(PEX10):c.600+1G>A SNV Pathogenic 6770 rs267608183 GRCh37: 1:2339890-2339890
GRCh38: 1:2408451-2408451
44 GATAD1 , PEX1 NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) Microsatellite Pathogenic 188981 rs769836601 GRCh37: 7:92118678-92118681
GRCh38: 7:92489364-92489367
45 PEX1 NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) SNV Pathogenic 265395 rs61750422 GRCh37: 7:92129122-92129122
GRCh38: 7:92499808-92499808
46 PEX1 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) SNV Pathogenic 188873 rs61750418 GRCh37: 7:92131237-92131237
GRCh38: 7:92501923-92501923
47 PEX1 NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) Deletion Pathogenic 813403 rs267608178 GRCh37: 7:92132492-92132496
GRCh38: 7:92503178-92503182
48 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) Duplication Pathogenic 93102 rs398123408 GRCh37: 7:92134156-92134157
GRCh38: 7:92504842-92504843
49 PEX1 NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) Microsatellite Pathogenic 188984 rs786204606 GRCh37: 7:92136394-92136395
GRCh38: 7:92507080-92507081
50 PEX1 NM_000466.3(PEX1):c.130-1G>T SNV Pathogenic 813453 rs1028247729 GRCh37: 7:92151560-92151560
GRCh38: 7:92522246-92522246

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

Pathways related to Neonatal Adrenoleukodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
2 10.69 EHHADH ACOX1
3
Show member pathways
10.47 EHHADH ACOX1

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 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
2 protein-containing complex GO:0032991 9.88 PEX5 PEX3 PEX19 PEX14 PEX11B CAT
3 peroxisomal membrane GO:0005778 9.83 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
4 integral component of peroxisomal membrane GO:0005779 9.76 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
5 peroxisomal matrix GO:0005782 9.62 PEX5 EHHADH CAT ACOX1
6 peroxisome GO:0005777 9.53 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
7 peroxisomal importomer complex GO:1990429 9.43 PEX14 PEX13 PEX12

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.99 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
2 protein transport GO:0015031 9.95 PEX5 PEX26 PEX14 PEX13 PEX1
3 protein import into peroxisome matrix GO:0016558 9.81 PEX6 PEX5 PEX26 PEX2 PEX16 PEX14
4 fatty acid beta-oxidation GO:0006635 9.73 PEX5 PEX2 EHHADH ACOX1
5 peroxisome organization GO:0007031 9.7 PEX6 PEX5 PEX3 PEX2 PEX19 PEX16
6 very long-chain fatty acid metabolic process GO:0000038 9.65 PEX5 PEX2 ACOX1
7 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
8 peroxisome fission GO:0016559 9.63 PEX19 PEX11B ACOX1
9 protein import into peroxisome matrix, docking GO:0016560 9.58 PEX5 PEX14 PEX13
10 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.54 EHHADH ACOX1
11 peroxisome membrane biogenesis GO:0016557 9.54 PEX3 PEX19 PEX16
12 cerebral cortex cell migration GO:0021795 9.52 PEX5 PEX13
13 protein import into peroxisome matrix, translocation GO:0016561 9.5 PEX6 PEX5 PEX14
14 microtubule-based peroxisome localization GO:0060152 9.49 PEX13 PEX1
15 protein targeting to peroxisome GO:0006625 9.47 PEX6 PEX5 PEX26 PEX2 PEX19 PEX16

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

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.46 PEX5 PEX19 PEX14 ACOX1
2 peroxisome targeting sequence binding GO:0000268 9.26 PEX5 CAT
3 protein C-terminus binding GO:0008022 9.17 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10
4 peroxisome membrane targeting sequence binding GO:0033328 8.96 PEX5 PEX19

Sources for Neonatal Adrenoleukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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