IHH Chromosome 2
Indian hedgehog signaling molecule
Upload your DNA to see your personal genotypes for variants in IHH.
What This Gene Does
This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"Hedgehog signaling molecule family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000163501
Associated Conditions (9)
Brachydactyly type A1A
Inborn genetic diseases
Brachydactyly type A1
IHH-related disorder
IHH-Related Disorders
Acrocapitofemoral dysplasia
Hirschsprung disease
susceptibility to
1
Key Variants
RS1212877137
Conflicting classifications of pathogenicity
Brachydactyly type A1A, Brachydactyly type A1A
Health Risk
RS13415309
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140093604
Conflicting classifications of pathogenicity
Brachydactyly type A1, IHH-related disorder, Brachydactyly type A1
Health Risk
RS143959492
Conflicting classifications of pathogenicity
IHH-related disorder, IHH-related disorder
Health Risk
RS200216644
Conflicting classifications of pathogenicity
Brachydactyly type A1, Brachydactyly type A1
Health Risk
RS2469514103
Conflicting classifications of pathogenicity
Health Risk
RS532767918
Conflicting classifications of pathogenicity
Brachydactyly type A1, Brachydactyly type A1
Health Risk
RS576284122
Conflicting classifications of pathogenicity
Brachydactyly type A1, Inborn genetic diseases, Brachydactyly type A1
Health Risk
RS763928869
Conflicting classifications of pathogenicity
Health Risk
RS772887242
Conflicting classifications of pathogenicity
Brachydactyly type A1, Brachydactyly type A1
Health Risk
RS886043368
Conflicting classifications of pathogenicity
Health Risk
RS886044074
Conflicting classifications of pathogenicity
IHH-Related Disorders, IHH-Related Disorders
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1212877137 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type A1A, Brachydactyly type A1A |
| RS13415309 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140093604 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type A1, IHH-related disorder, Brachydactyly type A1 |
| RS143959492 | Health Risk | Conflicting classifications of pathogenicity | IHH-related disorder, IHH-related disorder |
| RS200216644 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type A1, Brachydactyly type A1 |
| RS2469514103 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS532767918 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type A1, Brachydactyly type A1 |
| RS576284122 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type A1, Inborn genetic diseases, Brachydactyly type A1 |
| RS763928869 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772887242 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type A1, Brachydactyly type A1 |
| RS886043368 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886044074 | Health Risk | Conflicting classifications of pathogenicity | IHH-Related Disorders, IHH-Related Disorders |
| RS121917853 | Health Risk | Likely pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS1454141074 | Health Risk | Likely pathogenic | Acrocapitofemoral dysplasia, Acrocapitofemoral dysplasia |
| RS1553540620 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 1 |
| RS1948841364 | Health Risk | Likely pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS1948841551 | Health Risk | Likely pathogenic | — |
| RS1948841937 | Health Risk | Likely pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS1948842142 | Health Risk | Likely pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS2106308536 | Health Risk | Likely pathogenic | — |
| RS2106308616 | Health Risk | Likely pathogenic | — |
| RS2469520105 | Health Risk | Likely pathogenic | Brachydactyly type A1A, Acrocapitofemoral dysplasia, Brachydactyly type A1A |
| RS267606873 | Health Risk | Likely pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS121917852 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS121917854 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS121917855 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1A, Brachydactyly type A1 |
| RS121917856 | Health Risk | Pathogenic | Acrocapitofemoral dysplasia, Acrocapitofemoral dysplasia |
| RS121917857 | Health Risk | Pathogenic | Acrocapitofemoral dysplasia, Acrocapitofemoral dysplasia |
| RS121917859 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS121917861 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS1948842030 | Health Risk | Pathogenic | Brachydactyly type A1, Acrocapitofemoral dysplasia, Brachydactyly type A1 |
| RS1948871509 | Health Risk | Pathogenic | IHH-related disorder, IHH-related disorder |
| RS2106308424 | Health Risk | Pathogenic | — |
| RS2106310580 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS2106310688 | Health Risk | Pathogenic | — |
| RS2469510181 | Health Risk | Pathogenic | — |
| RS2469510717 | Health Risk | Pathogenic | — |
| RS2469514328 | Health Risk | Pathogenic | — |
| RS2469514359 | Health Risk | Pathogenic | Brachydactyly type A1A, Brachydactyly type A1A |
| RS2469514390 | Health Risk | Pathogenic | — |
| RS267606872 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS768257762 | Health Risk | Pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS1948868228 | Health Risk | Pathogenic/Likely pathogenic | Brachydactyly type A1, Brachydactyly type A1 |
| RS2469514264 | Health Risk | Pathogenic/Likely pathogenic | — |