SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
|
31370824 |
2019 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
|
31694554 |
2019 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel p.W150C heterozygous mutation in NOG was identified cosegregating with the proximal symphalangism disorder in the family.
|
25888563 |
2015 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features.
|
25391606 |
2015 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Human noggin (NOG) gene mutation causes multiple bony disorders showing up as stapes ankylosis with broad thumbs and toes (SABTT), proximal symphalangism (SYM1), multiple synostoses syndrome 1 (SYNS1), tarsal-carpal coalition syndrome (TCC) and brachydactyly type B2 (BDB2).
|
26211601 |
2015 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Noggin is encoded by NOG and mutations in the gene are associated with aberrant skeletal formation, such as in the autosomal dominant disorders proximal symphalangism (SYM1), multiple synostoses syndrome, Teunissen-Cremers syndrome, and tarsal-carpal coalition syndrome.
|
24735539 |
2014 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
|
24326127 |
2014 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
|
24326127 |
2014 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Human noggin (NOG) is a responsible gene for multiple synostosis syndrome (SYNS1) and proximal symphalangism (SYM1), two conditions that are recently known to be within a wider range of clinical manifestations of stapes ankylosis with symphalangism.
|
22288654 |
2012 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet.
|
21538686 |
2011 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NOG gene are known to be associated with a variety of rare stapes ankylosis syndromes including stapes ankylosis with broad thumbs and toes, multiple synostoses syndrome, and proximal symphalangism.
|
19471170 |
2009 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cushing proximal symphalangism and the NOG and GDF5 genes.
|
17994231 |
2008 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the NOGGIN (NOG) gene in humans are associated with several autosomal dominant disorders such as proximal symphalangism and multiple synostoses.
|
18096605 |
2008 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the NOG gene which encodes the noggin protein, a bone morphogenetic protein antagonist, have been identified in TCS as well as in four other autosomal dominant disorders including proximal symphalangism (SYM1), multiple synostosis (SYNS1), Tarsal-Carpal coalition syndrome and brachydactyly type B (BDB).
|
18440889 |
2008 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GDF inhibitor Noggin (NOG) or activating mutations in GDF5 cause proximal symphalangism (SYM1).
|
16957682 |
2006 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
|
15066478 |
2004 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
|
11545688 |
2002 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although fixation of the stapes is usually progressive and secondary to otosclerosis, it may present congenitally, with other skeletal manifestations, as an autosomal dominant syndrome-such as proximal symphalangism (SYM1) or multiple-synostoses syndrome (SYNS1), both of which are caused by mutations in NOG, the gene encoding noggin.
|
12089654 |
2002 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
|
11846737 |
2001 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
|
11846737 |
2001 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In humans, heterozygous NOG missense mutations have been found in patients with two autosomal dominant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proximal symphalangism (SYM1).
|
11562478 |
2001 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents.
|
10080184 |
1999 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.
|
7557985 |
1995 |
SYMPHALANGISM, PROXIMAL
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SYMPHALANGISM, PROXIMAL
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|