| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
25154629 |
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature. Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX. Clin Exp Dermatol. 2015;40(1):56-62. |
| Congenital ichthyosiform erythroderma | ||
| TGM1 | ||
| rs121918716 rs1296165092 rs1555306304 | ||
| Asians China Females Genes, Recessive Genetic Predisposition to Disease Genotype Homo sapiens Ichthyosiform Erythroderma, Congenital Male Mutation Transglutaminases |
Total: 18
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001072 | Thickened skin | Very frequent (99-80%) |
| HP:0008064 | Ichthyosis | Very frequent (99-80%) |
| HP:0025092 | Epidermal acanthosis | Very frequent (99-80%) |
| HP:0040189 | Scaling skin | Very frequent (99-80%) |
| HP:0000656 | Ectropion | Frequent (79-30%) |
| HP:0001019 | Erythroderma | Frequent (79-30%) |
| HP:0001036 | Parakeratosis | Frequent (79-30%) |
| HP:0007460 | Autoamputation of digits | Frequent (79-30%) |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | Frequent (79-30%) |
| HP:0010829 | Impaired temperature sensation | Frequent (79-30%) |
| HP:0012472 | Eclabion | Frequent (79-30%) |
| HP:0000966 | Hypohidrosis | Occasional (29-5%) |
| HP:0000972 | Palmoplantar hyperkeratosis | Occasional (29-5%) |
| HP:0001006 | Hypotrichosis | Occasional (29-5%) |
| HP:0001596 | Alopecia | Occasional (29-5%) |
| HP:0002828 | Multiple joint contractures | Occasional (29-5%) |
| HP:0008404 | Nail dystrophy | Occasional (29-5%) |
| HP:0025524 | Palmoplantar scaling skin | Excluded (0%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|