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แม่แบบ:ความบกพร่องของรีเซพเตอร์ผิวเซลล์

จากวิกิพีเดีย สารานุกรมเสรี

Genetic disorder, membrane: cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A	TSHR (Congenital hypothyroidism 1) · LHCGR (Male-limited precocious puberty) · FSHR (XX gonadal dysgenesis) · EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) · AVPR2 (Nephrogenic diabetes insipidus 1) · PTGER2 (Aspirin-induced asthma)
Class B	PTH1R (Jansen's metaphyseal chondrodysplasia)
Class C	CASR (Familial hypocalciuric hypercalcemia)
Class F	FZD4 (Exudative vitreoretinopathy 1)

Enzyme-linked receptor
(including
growth factor)

RTK	ROR2 (Robinow syndrome) · FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) · FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome) · FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) · INSR (Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 (Congenital insensitivity to pain with anhidrosis) · KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
STPK	AMHR2 (Persistent Mullerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
GC	GUCY2D (Leber's congenital amaurosis 1)

Type I cytokine receptor: GH (Laron syndrome) · CSF2RA (Surfactant metabolism dysfunction 4)

MPL (Congenital amegakaryocytic thrombocytopenia)

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)

Lipid receptor

LRP: LRP2 (Donnai-Barrow syndrome) · LRP4 (Cenani Lenz syndactylism) · LRP5 (Worth syndrome, Exudative vitreoretinopathy 4, Osteopetrosis 1)
LDLR (LDLR Familial hypercholesterolemia)

Other/ungrouped

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)

see also cell surface receptors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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