หน้าหลัก
สุ่ม
ใกล้เคียง
เข้าสู่ระบบ
การตั้งค่า
บริจาคให้วิกิพีเดีย
เกี่ยวกับวิกิพีเดีย
ข้อปฏิเสธความรับผิดชอบ
ค้นหา
แม่แบบ
:
ความบกพร่องของรีเซพเตอร์ผิวเซลล์
ภาษาอื่น
เฝ้าดู
แก้ไข
ด
ค
ก
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
)
JAK-STAT
Type I cytokine receptor
:
GH
(
Laron syndrome
)
·
CSF2RA
(
Surfactant metabolism dysfunction 4
)
MPL
(
Congenital amegakaryocytic thrombocytopenia
)
TNF receptor
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
