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:
Cell surface receptor deficiencies
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v
t
e
Cell surface receptor
deficiencies
G protein-coupled receptor
(including
hormone
)
Class A
TSHR
(
Congenital hypothyroidism 1
)
LHCGR
(
Luteinizing hormone insensitivity
,
Leydig cell hypoplasia
,
Male-limited precocious puberty
)
FSHR
(
Follicle-stimulating hormone insensitivity
,
XX gonadal dysgenesis
)
GnRHR
(
Gonadotropin-releasing hormone insensitivity
)
EDNRB
(
ABCD syndrome
,
Waardenburg syndrome 4a
,
Hirschsprung's disease 2
)
AVPR2
(
Nephrogenic diabetes insipidus 1
)
PTGER2
(
Aspirin-exacerbated respiratory disease
)
Class B
PTH1R
(
Jansen's metaphyseal chondrodysplasia
)
Class C
CASR
(
Familial hypocalciuric hypercalcemia
)
Class F
FZD4
(
Familial 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 Müllerian 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
,
Familial exudative vitreoretinopathy 4
,
Osteopetrosis 1
)
LDLR
(
LDLR Familial hypercholesterolemia
)
Other/ungrouped
Immunoglobulin superfamily
:
AGM3, 6
Integrin
:
LAD1
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
Template:Collapsible option
Categories
:
Cell surface receptor deficiencies
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