MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: maternal disease-related embryofetopathy (MONDO:0016678)
Parent Node: phenylketonuria (MONDO:0009861)
Parent Node: teratogenic Pierre Robin syndrome (MONDO:0015323)
..Starting node ..maternal phenylketonuria ()
Child Nodes:
Sister Nodes:
..aminopterin/methotrexate embryofetopathy ()
..cocaine embryofetopathy ()
..fetal alcohol syndrome ()
..fetal hydantoin syndrome ()
..fetal iodine syndrome ()
..fetal methylmercury syndrome ()
..fetal minoxidil syndrome ()
..fetal parvovirus syndrome ()
..fetal trimethadione syndrome ()
..fetal valproate syndrome ()
..indomethacin embryofetopathy ()
..isotretinoin syndrome ()
..maternal hyperthermia induced birth defects ()
..maternal phenylketonuria ()
..methimazole embryofetopathy ()
..phenobarbital embryopathy ()
..propylthiouracil embryofetopathy ()
..toluene embryopathy ()
..vitamin K-antagonist embryofetopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16366
Name:	maternal phenylketonuria
Definition:	Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hyperphenylalaninemic embryopathy; maternal hyperphenylalaninemia; maternal PKU; phenylketonuric embryopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal