Template:Cell surface receptor deficiencies

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Revision as of 23:01, 1 January 2011 by imported>Arcadian (Osteopetrosis)
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{Navbox |name = Cell surface receptor deficiencies |title = Genetic disorder, membrane: cell surface receptor deficiencies |image = |above = | titlestyle = background:Silver


|group2 = G protein-coupled receptor
(including hormone) |list2 = Template:Navbox subgroup


| group4 = Enzyme-linked receptor
(including
growth factor) | list4 = Template:Navbox subgroup

| group5 = JAK-STAT | list5 = Type I cytokine receptor: GH (Laron syndrome· CSF2RA (Surfactant metabolism dysfunction 4)

MPL (Congenital amegakaryocytic thrombocytopenia)

| group6 = TNF receptor | list6 = TNFRSF1A (TNF receptor associated periodic syndrome· TNFRSF13B (Selective immunoglobulin A deficiency 2· TNFRSF5 (Hyper-IgM syndrome type 3· TNFRSF13C (CVID4· TNFRSF13B (CVID2· TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)


| group7 = Lipid receptor | list7 = LRP: LRP2 (Donnai-Barrow syndrome· LRP4 (Cenani Lenz syndactylism· LRP5 (Worth syndrome, Exudative vitreoretinopathy 4, Osteopetrosis 1)

LDLR (LDLR Familial hypercholesterolemia)

| group10 = Other/ungrouped | list10 = Immunoglobulin superfamily: AGM3, 6

Integrin: LAD 1 · Glanzmann's thrombasthenia · Junctional epidermolysis bullosa with pyloric atresia

EDAR (EDAR Hypohidrotic ectodermal dysplasia· PTCH1 (Nevoid basal cell carcinoma syndrome· BMPR1A (BMPR1A Juvenile polyposis syndrome· IL2RG (X-linked severe combined immunodeficiency)

|below = see also cell surface receptors
Template:Protein defects by function navs }}