NOG - Noggin - human protein (Medical)
 
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Protein
Gene
References

 
NOG »  Noggin
 
Gene name:  NOG
Family name: Noggin
Entry whose protein(s) existence is based on evidence at protein level
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1 56 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Symphalangism, proximal 1A (SYM1A) [MIM:185800]: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Tarsal-carpal coalition syndrome (TCC) [MIM:186570]: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]: Congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Brachydactyly B2 (BDB2) [MIM:611377]: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Brachydactyly type B2  140908  
Multiple synostoses syndrome  3237  
Proximal symphalangism  3250  
Stapes ankylosis with broad thumbs and toes  140917  
Tarsal-carpal coalition syndrome  1412  
 

Keywords

Disease 
Deafness  definition   [KW-0209]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 9241
MIM: 611377
MIM: 186500
MIM: 185800
MIM: 184460
MIM: 186570
PharmGKB: PA31670
Polymorphism databases
DMDM: 15214099
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.