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: complement deficiency (MONDO:0003832)
Parent Node: disease of macromolecular complex (MONDO:0044971)
..Starting node ..immunodeficiency due to a late component of complement deficiency ()
Child Nodes:
........complement component 5 deficiency ()
........complement component 6 deficiency ()
........complement component 7 deficiency ()
........complement component 9 deficiency ()
........type i complement component 8 deficiency ()
........type II complement component 8 deficiency ()
Sister Nodes:
..autoinflammatory syndrome ()
..chronic granulomatous disease ()
..collagenopathy ()
..hyperimmunoglobulin syndrome ()
..immunodeficiency due to a late component of complement deficiency ()
..mitochondrial complex I deficiency () L: 00011;
..mitochondrial complex III deficiency ()
..mitochondrial proton-transporting ATP synthase complex deficiency () L: 00502;
..pyruvate dehydrogenase deficiency ()
..sarcoglycanopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15700
Name:	immunodeficiency due to a late component of complement deficiency
Definition:	A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	deficiency of complement of terminal pathway; immunodeficiency due to a C5 to C9 component complement deficiency; immunodeficiency due to C5 to C9 component complement deficiency; terminal complement pathway deficiency
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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