WikiMD's Wellness Encyclopedia
WikiMD's Wellness Encyclopedia
Search
Log in
↓
Personal tools
Not logged in
Talk
Contributions
Create account
Log in
Navigation menu
Navigation
Main page
Current events
Recent changes
Popular pages
Random page
Upload file
Special pages
WikiMD St@tistics
Wellness matters
Wellness
Diet
Recipes
Weight loss diet
Medical weight loss NYC
Brooklyn weight loss
Encyclopedia
Health encyclopedia
Disease index
Health topics
Glossaries
Rare diseases
Directory
Doctor finder (US)
World Directory
Sister projects
Christian Encyclopedia
Medical weight loss NYC
Medical directory
Sponsors
NYC physician weight loss
Philadelphia medical weight loss
NYC sleep clinic
Philadelphia sleep clinic
Lose weight NYC
Indian vegetable farm NJ
W8MD weight loss centers
Contact
Contact us
Navigation
Speci@l PageS
Template
:
Cell surface receptor deficiencies
From WikiMD's Wellness Encyclopedia
(Redirected from
Template:Receptor deficiencies
)
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-induced asthma
)
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
)
Categories
:
Cell surface receptor deficiencies
Genetic disease and disorder templates by mechanism
