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Template:Cell surface receptor deficiencies
From WikiMD.com - Food, Medicine & Wellness Encyclopedia
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