PedAM

Pediatric Disease Annotations & Medicines


	neonatal adrenoleukodystrophy

Disease ID	510
Disease	neonatal adrenoleukodystrophy
Definition	A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.
Synonym	adrenoleukodystrophies, neonatal adrenoleukodystrophy neonatal adrenoleukodystrophy, autosomal neonatal form adrenoleukodystrophy, autosomal, neonatal form adrenoleukodystrophy, neonatal neonatal adrenoleucodystrophy neonatal adrenoleucodystrophy (disorder) neonatal adrenoleukodystrophies
Orphanet	ORPHANET:44
ICD10	ICD10CM:E71.511
UMLS	C0282525
SNOMED-CT	SNOMEDCT_US_2016_09_01:238061001
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) PEX26 \| 55670 \| ORPHANET PEX6 \| 5190 \| ORPHANET PEX13 \| 5194 \| ORPHANET PEX1 \| 5189 \| ORPHANET PEX5 \| 5830 \| CLINVAR;ORPHANET PEX3 \| 8504 \| ORPHANET PEX2 \| 5828 \| ORPHANET PEX14 \| 5195 \| ORPHANET PEX19 \| 5824 \| ORPHANET PEX16 \| 9409 \| ORPHANET PEX12 \| 5193 \| ORPHANET PEX10 \| 5192 \| ORPHANET PEX11B \| 8799 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:13) PEX3 \| 6q24.2 PEX6 \| 6p21.1 PEX1 \| 7q21.2 PEX11B \| 1q21.1 PEX14 \| 1p36.22 PEX19 \| 1q23.2 PEX2 \| 8q21.13 PEX13 \| 2p15 PEX12 \| 17q12 PEX10 \| 1p36.32 PEX26 \| 22q11.21 PEX16 \| 11p11.2 PEX5 \| 12p13.31

Disease ID	510
Disease	neonatal adrenoleukodystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:41) HP:0000407 \| Sensorineural hearing impairment HP:0000369 \| Low-set ears HP:0000846 \| Hypoadrenalism HP:0002269 \| Abnormality of neuronal migration HP:0000431 \| Broad nasal root HP:0007598 \| Bilateral single transverse palmar creases HP:0000286 \| Palpebronasal fold HP:0010696 \| Polar cataract HP:0002353 \| EEG abnormality HP:0003455 \| Elevated long chain fatty acids HP:0004322 \| Short stature HP:0011344 \| Severe global developmental delay HP:0001249 \| Mental retardation HP:0000260 \| Wide anterior fontanel HP:0001250 \| Seizures HP:0000486 \| Strabismus HP:0000508 \| Ptosis HP:0000431 \| Wide nasal bridge HP:0001252 \| Muscular hypotonia HP:0002376 \| Developmental regression HP:0000174 \| Abnormality of the palate HP:0001392 \| Abnormality of the liver HP:0000505 \| Visual impairment HP:0000256 \| Macrocephaly HP:0000348 \| High forehead HP:0001939 \| Abnormality of metabolism/homeostasis HP:0000518 \| Cataract HP:0008207 \| Primary adrenal insufficiency HP:0000368 \| Low-set, posteriorly rotated ears HP:0001347 \| Hyperreflexia HP:0007703 \| Abnormality of retinal pigmentation HP:0002007 \| Frontal protruberance HP:0000639 \| Nystagmus HP:0000268 \| Dolichocephaly HP:0000463 \| Nostrils anteverted HP:0100022 \| Abnormality of movement HP:0000648 \| Optic atrophy HP:0000463 \| Anteverted nares HP:0000218 \| Increased palatal height HP:0001999 \| Facial dysmorphism HP:0000565 \| Inward turning of one or both eyes
Text Mined Phenotype	(Waiting for update.)

Disease ID	510
Disease	neonatal adrenoleukodystrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0282526 \| hyperpipecolic acidemia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs61752095	9683594	5192	PEX10	umls:C0282525	BeFree	A more mildly affected neonatal adrenoleukodystrophy patient was a compound heterozygote for a missense mutation in the PEX10 zinc-binding domain, H290Q, and for a nonsense mutation, R125ter.	0.120542884	1998	PEX10	1	2406526	G	C
rs61752095	10862081	5192	PEX10	umls:C0282525	BeFree	In contrast, a more mildly affected PEX10-deficient neonatal adrenoleukodystrophy patient expressed a PEX10 allele with a missense mutation, H290Q, affecting the C-terminal zinc-binding domain of the PEX10 product.	0.120542884	2000	PEX10	1	2406526	G	C
rs61752138	NA	5830	PEX5	umls:C0282525	CLINVAR	NA	0.240271442	NA	PEX5	12	7209700	T	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000174	Abnormality of the palate	MP:0000662	abnormal branching of the mammary ductal tree;HP:0000407	Sensorineural hearing impairment

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000505	Visual impairment	MP:0011250	abdominal situs ambiguus;HP:0000174	Abnormality of the palate

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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