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: metachromatic leukodystrophy (MONDO:0018868)
..Starting node ..metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a ()
Child Nodes:
Sister Nodes:
..metachromatic leukodystrophy due to saposin b deficiency ()
..metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a ()
..metachromatic leukodystrophy, juvenile form ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7981

Name:

metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a

Definition:

Alternative IDs:

156310

ParentIDs:

TreeNumbers:

Synonyms:

metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a; metachromatic leukodystrophy, adult-onset, with Normal arylsulfatase type a

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 156310;
MSeqDR :
Genes: CLN3; CLN6;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002270	Abnormality of the autonomic nervous system
3	HP:0003581	Adult onset
4	HP:0002615	Hypotension
5	HP:0006926	Metachromatic leukodystrophy variant	Adult onset
6	HP:0000020	Urinary incontinence
7	HP:0000012	Urinary urgency

Disease Causing ClinVar Variants

MSeqDR Portal