MADD Chromosome 11
MAP kinase activating death domain
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What This Gene Does
Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000110514
Associated Conditions (8)
Inborn genetic diseases
Neurodevelopmental disorder with dysmorphic facies
impaired speech
and hypotonia
Deeah syndrome
MADD-related disorder
Multiple acyl-CoA dehydrogenase deficiency
severe neonatal type
Key Variants
RS138776960
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1591767154
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Health Risk
RS371396751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Deeah syndrome, Inborn genetic diseases
Health Risk
RS74698331
Conflicting classifications of pathogenicity
Health Risk
RS752065721
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767019430
Conflicting classifications of pathogenicity
MADD-related disorder, MADD-related disorder
Health Risk
RS780548837
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies, impaired speech
Health Risk
RS1200178932
Likely pathogenic
Health Risk
RS1327470716
Likely pathogenic
Deeah syndrome, Deeah syndrome
Health Risk
RS148016422
Likely pathogenic
Deeah syndrome, Deeah syndrome
Health Risk
RS1555081426
Likely pathogenic
Health Risk
RS2541472333
Likely pathogenic
Deeah syndrome, Deeah syndrome
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138776960 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1591767154 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS371396751 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Deeah syndrome, Inborn genetic diseases |
| RS74698331 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752065721 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767019430 | Health Risk | Conflicting classifications of pathogenicity | MADD-related disorder, MADD-related disorder |
| RS780548837 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies, impaired speech |
| RS1200178932 | Health Risk | Likely pathogenic | — |
| RS1327470716 | Health Risk | Likely pathogenic | Deeah syndrome, Deeah syndrome |
| RS148016422 | Health Risk | Likely pathogenic | Deeah syndrome, Deeah syndrome |
| RS1555081426 | Health Risk | Likely pathogenic | — |
| RS2541472333 | Health Risk | Likely pathogenic | Deeah syndrome, Deeah syndrome |
| RS2543164636 | Health Risk | Likely pathogenic | Deeah syndrome, Deeah syndrome |
| RS2544800803 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS756420276 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS766120355 | Health Risk | Likely pathogenic | Deeah syndrome, Deeah syndrome |
| RS768316614 | Health Risk | Likely pathogenic | MADD-related disorder, MADD-related disorder |
| RS1326027590 | Health Risk | Pathogenic | Deeah syndrome, Deeah syndrome |
| RS1359577297 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1411949325 | Health Risk | Pathogenic | — |
| RS2049504624 | Health Risk | Pathogenic | Deeah syndrome, Deeah syndrome |
| RS2049640804 | Health Risk | Pathogenic | Deeah syndrome, Deeah syndrome |
| RS2063412625 | Health Risk | Pathogenic | Deeah syndrome, MADD-related disorder, Deeah syndrome |
| RS2070645772 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS2071226513 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS2086196870 | Health Risk | Pathogenic | MADD-related disorder, MADD-related disorder |
| RS2140853464 | Health Risk | Pathogenic | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type, Multiple acyl-CoA dehydrogenase deficiency |
| RS370382902 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS971864929 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS147179561 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia |
| RS754892238 | Health Risk | Pathogenic/Likely pathogenic | — |