BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes.
|
30651074 |
2019 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations.
|
29155992 |
2018 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
|
25959774 |
2015 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
|
21167467 |
2011 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear.
|
21537345 |
2011 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear.
|
21537345 |
2011 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
|
19464397 |
2009 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
Biomarker
|
disease |
MGD |
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
|
19252479 |
2009 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
|
12632327 |
2003 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
|
12384778 |
2002 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
|
12384778 |
2002 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig.1a).
|
11455389 |
2001 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
|
11455389 |
2001 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
|
11455389 |
2001 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
BRACHYDACTYLY, TYPE A1 (disorder)
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
Acrocapitofemoral Dysplasia
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
|
25959774 |
2015 |
Acrocapitofemoral Dysplasia
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
|
21167467 |
2011 |
Acrocapitofemoral Dysplasia
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
All of the BDA1 mutations occur in a restricted area of the N-terminal active fragment of the IHH and are in contrast to those mutations causing an autosomal recessive acrocapitofemoral dysplasia, whose mutations are located at the distal N- and C-terminal regions of IHH-N and are physically separated from the BDA1-causing mutations.
|
19277064 |
2009 |
Acrocapitofemoral Dysplasia
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
|
12632327 |
2003 |
Acrocapitofemoral Dysplasia
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
|
12632327 |
2003 |
Acrocapitofemoral Dysplasia
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
|
12632327 |
2003 |
Acrocapitofemoral Dysplasia
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Acrocapitofemoral Dysplasia
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|