Difference between revisions of "Template:Cell surface receptor deficiencies"

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{{Navbox
 
{{Navbox
|name   = Cell surface receptor deficiencies
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| name       = Cell surface receptor deficiencies
|title   = [[Genetic disorder]], membrane: [[cell surface receptor]] deficiencies
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| title     = [[Genetic disorder]], membrane: [[cell surface receptor]] deficiencies
|image  =
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| bodyclass  = hlist
|above  =  
 
 
| titlestyle = background:Silver
 
| titlestyle = background:Silver
  
 +
| group2 = [[G protein-coupled receptor]]<br>(including [[Hormone receptor|hormone]])
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| list2  =
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  {{Navbox|subgroup
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  | group1 = Class A
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  | list1  =
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* ''[[Thyrotropin receptor|TSHR]]'' ([[Congenital hypothyroidism|Congenital hypothyroidism 1]])
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* ''[[Luteinizing hormone/choriogonadotropin receptor|LHCGR]]'' ([[Male-limited precocious puberty]])
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* ''[[FSH-receptor|FSHR]]'' ([[XX gonadal dysgenesis]])
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* ''[[Endothelin receptor|EDNRB]]'' ([[ABCD syndrome]], [[Waardenburg syndrome|Waardenburg syndrome 4a]], [[Hirschsprung's disease|Hirschsprung's disease 2]])
 +
* ''[[AVPR2]]'' ([[Nephrogenic diabetes insipidus|Nephrogenic diabetes insipidus 1]])
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* ''[[Prostaglandin E2 receptor|PTGER2]]'' ([[Aspirin-induced asthma]])
  
|group2  = [[G protein-coupled receptor]]<BR>(including [[Hormone receptor|hormone]])
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  | group2 = Class B
|list2  = {{Navbox subgroup
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  | list2 =  
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* ''[[PTH1R]]'' ([[Jansen's metaphyseal chondrodysplasia]])
  
|group1  = Class A
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  | group3 = Class C
|list1  = ''[[Thyrotropin receptor|TSHR]]'' ([[Congenital hypothyroidism|Congenital hypothyroidism 1]]){{·}} ''[[Luteinizing hormone/choriogonadotropin receptor|LHCGR]]'' ([[Male-limited precocious puberty]]){{·}} ''[[FSH-receptor|FSHR]]'' ([[XX gonadal dysgenesis]]){{·}} ''[[Endothelin receptor|EDNRB]]'' ([[ABCD syndrome]], [[Waardenburg syndrome|Waardenburg syndrome 4a]], [[Hirschsprung's disease|Hirschsprung's disease 2]]){{·}} ''[[AVPR2]]'' ([[Nephrogenic diabetes insipidus|Nephrogenic diabetes insipidus 1]]){{·}} ''[[Prostaglandin E2 receptor|PTGER2]]'' ([[Aspirin-induced asthma]])
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  | list3  =  
 +
* ''[[Calcium-sensing receptor|CASR]]'' ([[Familial hypocalciuric hypercalcemia]])
  
|group2  = Class B
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  | group4 = Class F
|list2 = ''[[PTH1R]]'' ([[Jansen's metaphyseal chondrodysplasia]])
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  | list4  =  
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* ''[[FZD4]]'' ([[Familial exudative vitreoretinopathy|Familial exudative vitreoretinopathy 1]])
 +
  }}
  
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| group4 = [[Enzyme-linked receptor]]<br>(including<br>[[Growth factor receptor|growth factor]])
 +
| list4  =
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  {{Navbox|subgroup
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  | group1 = [[Receptor tyrosine kinase|RTK]]
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  | list1  =
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* ''[[ROR2]]'' ([[Robinow syndrome]])
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* ''[[Fibroblast growth factor receptor 1|FGFR1]]'' ([[Pfeiffer syndrome]], [[Kallmann syndrome|KAL2 Kallmann syndrome]])
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* ''[[Fibroblast growth factor receptor 2|FGFR2]]'' ([[Apert syndrome]], [[Antley-Bixler syndrome]], [[Pfeiffer syndrome]], [[Crouzon syndrome]], [[Jackson-Weiss syndrome]])
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* ''[[Fibroblast growth factor receptor 3|FGFR3]]'' ([[Achondroplasia]], [[Hypochondroplasia]], [[Thanatophoric dysplasia]], [[Muenke syndrome]])
 +
* ''[[Insulin receptor|INSR]]'' ([[Donohue syndrome]]
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* [[Rabson–Mendenhall syndrome]])
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* ''[[TrkA receptor|NTRK1]]'' ([[Congenital insensitivity to pain with anhidrosis]])
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* ''[[CD117|KIT]]'' ([[Piebaldism|KIT Piebaldism]], [[Gastrointestinal stromal tumor]])
  
|group3  = Class C
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  | group2 = [[Serine/threonine-specific protein kinase|STPK]]
|list3 = ''[[Calcium-sensing receptor|CASR]]'' ([[Familial hypocalciuric hypercalcemia]])
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  | list2  =  
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* ''[[Anti-Müllerian hormone receptor|AMHR2]]'' ([[Persistent Mullerian duct syndrome|Persistent Mullerian duct syndrome II]])
  
|group4  = Class F
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* [[TGF beta receptors]]: [[Endoglin]]/[[ACVRL1|Alk-1]]/[[Mothers against decapentaplegic homolog 4|SMAD4]] ([[Hereditary hemorrhagic telangiectasia]])
|list4 = ''[[FZD4]]'' ([[Familial exudative vitreoretinopathy|Familial exudative vitreoretinopathy 1]])
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* [[TGF beta receptor 1|TGFBR1]]/[[TGF beta receptor 2|TGFBR2]] ([[Loeys-Dietz syndrome]])
  
}}
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  | group3 = [[Guanylate cyclase|GC]]
 
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  | list3  =  
 
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* ''[[GUCY2D]]'' ([[Leber's congenital amaurosis|Leber's congenital amaurosis 1]])
| group4 = [[Enzyme-linked receptor]]<BR>(including<BR>[[Growth factor receptor|growth factor]])
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  }}
| list4  = {{Navbox subgroup
 
 
 
| group1 = [[Receptor tyrosine kinase|RTK]]
 
| list1  = ''[[ROR2]]'' ([[Robinow syndrome]]){{·}} ''[[Fibroblast growth factor receptor 1|FGFR1]]'' ([[Pfeiffer syndrome]], [[Kallmann syndrome|KAL2 Kallmann syndrome]]){{·}} ''[[Fibroblast growth factor receptor 2|FGFR2]]'' ([[Apert syndrome]], [[Antley-Bixler syndrome]], [[Pfeiffer syndrome]], [[Crouzon syndrome]], [[Jackson-Weiss syndrome]]){{·}} ''[[Fibroblast growth factor receptor 3|FGFR3]]'' ([[Achondroplasia]], [[Hypochondroplasia]], [[Thanatophoric dysplasia]], [[Muenke syndrome]]){{·}} ''[[Insulin receptor|INSR]]'' ([[Donohue syndrome]]{{·}} [[Rabson–Mendenhall syndrome]]){{·}} ''[[TrkA receptor|NTRK1]]'' ([[Congenital insensitivity to pain with anhidrosis]]){{·}} ''[[CD117|KIT]]'' ([[Piebaldism|KIT Piebaldism]], [[Gastrointestinal stromal tumor]])
 
 
 
| group2 = [[Serine/threonine-specific protein kinase|STPK]]
 
| list2  = ''[[Anti-Müllerian hormone receptor|AMHR2]]'' ([[Persistent Mullerian duct syndrome|Persistent Mullerian duct syndrome II]])<BR>
 
 
 
[[TGF beta receptors]]: [[Endoglin]]/[[ACVRL1|Alk-1]]/[[Mothers against decapentaplegic homolog 4|SMAD4]] ([[Hereditary hemorrhagic telangiectasia]]){{·}} [[TGF beta receptor 1|TGFBR1]]/[[TGF beta receptor 2|TGFBR2]] ([[Loeys-Dietz syndrome]])
 
 
 
| group3 = [[Guanylate cyclase|GC]]
 
| list3  = ''[[GUCY2D]]'' ([[Leber's congenital amaurosis|Leber's congenital amaurosis 1]])
 
 
 
}}  
 
  
 
| group5 = [[JAK-STAT signaling pathway|JAK-STAT]]
 
| group5 = [[JAK-STAT signaling pathway|JAK-STAT]]
| list5  = [[Type I cytokine receptor]]: ''[[Growth hormone receptor|GH]]'' ([[Laron syndrome]]){{·}} ''[[Granulocyte macrophage colony-stimulating factor receptor|CSF2RA]]'' ([[Surfactant metabolism dysfunction|Surfactant metabolism dysfunction 4]])
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| list5  =  
<BR>
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* [[Type I cytokine receptor]]: ''[[Growth hormone receptor|GH]]'' ([[Laron syndrome]])
 +
* ''[[Granulocyte macrophage colony-stimulating factor receptor|CSF2RA]]'' ([[Surfactant metabolism dysfunction|Surfactant metabolism dysfunction 4]])
  
[[Myeloproliferative leukemia virus oncogene|MPL]] ([[Congenital amegakaryocytic thrombocytopenia]])
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* [[Myeloproliferative leukemia virus oncogene|MPL]] ([[Congenital amegakaryocytic thrombocytopenia]])
  
 
| group6 = [[Tumor necrosis factor receptor|TNF receptor]]
 
| group6 = [[Tumor necrosis factor receptor|TNF receptor]]
| list6  = ''[[TNFRSF1A]]'' ([[TNF receptor associated periodic syndrome]]){{·}} ''[[TNFRSF13B]]'' ([[Selective immunoglobulin A deficiency|Selective immunoglobulin A deficiency 2]]){{·}} ''[[CD40 (protein)|TNFRSF5]]'' ([[Hyper-IgM syndrome type 3]]){{·}} ''[[TNFRSF13C]]'' ([[Common variable immunodeficiency|CVID4]]){{·}} ''[[TNFRSF13B]]'' ([[Common variable immunodeficiency|CVID2]]){{·}} ''[[Fas receptor|TNFRSF6]]'' ([[Autoimmune lymphoproliferative syndrome|Autoimmune lymphoproliferative syndrome 1A]])
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| list6  =  
 
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* ''[[TNFRSF1A]]'' ([[TNF receptor associated periodic syndrome]])
 +
* ''[[TNFRSF13B]]'' ([[Selective immunoglobulin A deficiency|Selective immunoglobulin A deficiency 2]])
 +
* ''[[CD40 (protein)|TNFRSF5]]'' ([[Hyper-IgM syndrome type 3]])
 +
* ''[[TNFRSF13C]]'' ([[Common variable immunodeficiency|CVID4]])
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* ''[[TNFRSF13B]]'' ([[Common variable immunodeficiency|CVID2]])
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* ''[[Fas receptor|TNFRSF6]]'' ([[Autoimmune lymphoproliferative syndrome|Autoimmune lymphoproliferative syndrome 1A]])
  
 
| group7 = Lipid receptor
 
| group7 = Lipid receptor
| list7  = [[Lipoprotein receptor-related protein|LRP]]: ''[[LRP2]]'' ([[Donnai-Barrow syndrome]]){{·}} ''[[Low density lipoprotein receptor-related protein 4|LRP4]]'' ([[Cenani Lenz syndactylism]]){{·}} ''[[LRP5]]'' ([[Worth syndrome]], [[Familial exudative vitreoretinopathy|Familial exudative vitreoretinopathy 4]], [[Osteopetrosis|Osteopetrosis 1]])<BR>
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| list7  =  
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* [[Lipoprotein receptor-related protein|LRP]]: ''[[LRP2]]'' ([[Donnai-Barrow syndrome]])
 +
* ''[[Low density lipoprotein receptor-related protein 4|LRP4]]'' ([[Cenani Lenz syndactylism]])
 +
* ''[[LRP5]]'' ([[Worth syndrome]], [[Familial exudative vitreoretinopathy|Familial exudative vitreoretinopathy 4]], [[Osteopetrosis|Osteopetrosis 1]])
  
''[[LDL receptor|LDLR]]'' ([[Familial hypercholesterolemia|LDLR Familial hypercholesterolemia]])
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* ''[[LDL receptor|LDLR]]'' ([[Familial hypercholesterolemia|LDLR Familial hypercholesterolemia]])
  
 
| group10 = Other/ungrouped
 
| group10 = Other/ungrouped
| list10  = [[Immunoglobulin superfamily]]: [[Hypogammaglobulinemia|AGM3, 6]]
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| list10  =  
 +
* [[Immunoglobulin superfamily]]: [[Hypogammaglobulinemia|AGM3, 6]]
  
[[Integrin]]: [[Leukocyte adhesion deficiency-1|LAD1]]{{·}} [[Glanzmann's thrombasthenia]]{{·}} [[Junctional epidermolysis bullosa with pyloric atresia]]
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* [[Integrin]]: [[Leukocyte adhesion deficiency-1|LAD1]]
 +
* [[Glanzmann's thrombasthenia]]
 +
* [[Junctional epidermolysis bullosa with pyloric atresia]]
  
''[[EDAR]]'' ([[Hypohidrotic ectodermal dysplasia|EDAR Hypohidrotic ectodermal dysplasia]]){{·}} ''[[PTCH1]]'' ([[Nevoid basal cell carcinoma syndrome]]){{·}} ''[[BMPR1A]]'' ([[Juvenile polyposis syndrome|BMPR1A Juvenile polyposis syndrome]]){{·}} ''[[IL2RG]]'' ([[X-linked severe combined immunodeficiency]])
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''[[EDAR]]'' ([[Hypohidrotic ectodermal dysplasia|EDAR Hypohidrotic ectodermal dysplasia]])
 +
* ''[[PTCH1]]'' ([[Nevoid basal cell carcinoma syndrome]])
 +
* ''[[BMPR1A]]'' ([[Juvenile polyposis syndrome|BMPR1A Juvenile polyposis syndrome]])
 +
* ''[[IL2RG]]'' ([[X-linked severe combined immunodeficiency]])
  
|below   = ''see also [[Template:Cell surface receptors|cell surface receptors]]''<BR>{{Protein defects by function navs}}
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| below =  
}}<noinclude>[[Category:Cell surface receptor deficiencies]][[Category:Genetic disease and disorder templates by mechanism|{{PAGENAME}}]]</noinclude>
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;See also
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: [[Template:Cell surface receptors|cell surface receptors]]<br>{{Protein defects by function navs}}
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}}<noinclude>
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[[Category:Cell surface receptor deficiencies]]
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[[Category:Genetic disease and disorder templates by mechanism]]
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</noinclude>

Revision as of 17:22, 5 September 2012