Template:Cell surface receptor deficiencies
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v
t
e
Genetic disorder
, membrane:
cell surface receptor
deficiencies
G protein-coupled receptor
(including
hormone
)
Template:Navbox subgroup
Enzyme-linked receptor
(including
growth factor
)
Template:Navbox subgroup
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
)
LRP
LRP2
(
Donnai-Barrow syndrome
)
·
LRP4
(
Cenani Lenz syndactylism
)
·
LRP5
(
Worth syndrome
)
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
Template:Protein defects by function navs
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:
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Cell surface receptor deficiencies
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