PedAM
Pediatric Disease Annotations & Medicines
| acrocapitofemoral dysplasia | ||||
| Disease ID | 1091 |
|---|---|
| Disease | acrocapitofemoral dysplasia |
| Definition | A skeletal dysplasia with clinical characteristics of short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur and to a variable degree, at the shoulders, knees, and ankles. Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients. The condition is transmitted as an autosomal recessive trait. |
| Synonym | acfd acrocapitofemoral dysplasia (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1843096 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) IHH | 2q35 |
| Disease ID | 1091 |
|---|---|
| Disease | acrocapitofemoral dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0010306 | Short thorax HP:0004322 | Short stature HP:0001792 | Small nail HP:0002650 | Scoliosis HP:0004279 | Short palm HP:0003367 | Abnormality of the femoral neck HP:0006059 | Cone-shaped metacarpal epiphyses HP:0002652 | Skeletal dysplasia HP:0002970 | Genu varum HP:0000256 | Macrocephaly HP:0000768 | Pectus carinatum HP:0002812 | Coxa vara HP:0000767 | Pectus excavatum HP:0002983 | Micromelia HP:0002750 | Delayed skeletal maturation HP:0003307 | Hyperlordosis HP:0001821 | Broad nail HP:0002869 | Flared iliac wings HP:0003300 | Ovoid vertebral bodies HP:0010579 | Cone-shaped epiphysis HP:0000774 | Narrow chest |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1091 |
|---|---|
| Disease | acrocapitofemoral dysplasia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917856 | NA | 3549 | IHH | umls:C1843096 | CLINVAR | NA | 0.480542884 | NA | IHH;MIR3131 | 2 | 219060331 | G | A |
| rs121917857 | NA | 3549 | IHH | umls:C1843096 | CLINVAR | NA | 0.480542884 | NA | IHH | 2 | 219057441 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |