| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 40 (4.0%) |
3954411 |
Report of a family with an unusual expression of recessive ichthyosis. Review of 42 cases. Bernhardt M, Baden HP. Arch Dermatol. 1986;122(4):428-33. |
| Congenital ichthyosiform erythroderma | ||
| Adult Child Child, Preschool Collodion Erythema Females Homo sapiens Ichthyoses Infant Keratosis Male Middle Aged Skin | ||
| 40 (4.0%) |
3707173 |
A mother and two children with nonbullous congenital ichthyosiform erythroderma. Rossmann-Ringdahl I, Anton-Lamprecht I, Swanbeck G. Arch Dermatol. 1986;122(5):559-64. |
| Congenital ichthyosiform erythroderma | ||
| Adult Child Child, Preschool Females Homo sapiens Ichthyoses Infant, Newborn Male Skin | ||
| 40 (4.0%) |
3548541 |
[Collodion baby: 32 new case reports]. Larregue M, Ottavy N, Bressieux JM, Lorette J. Ann Dermatol Venereol. 1986;113(9):773-85. |
| Dehydration | ||
| Females Homo sapiens Ichthyoses Infant, Newborn Male Syndrome | ||
| 40 (4.0%) |
3460740 |
Vacuolar myelinopathy of the brain and lamellar ichthyosis. Sadick N, Sternberg PE. Cutis. 1986;38(1):29-32. |
| Hypotension | ||
| Anti-Bacterial Agents Anti-Infective Agents Bacterial Infections Brain Stem Cerebral Ventricles Combination Drug Therapy Females Homo sapiens Ichthyoses Infant Mycoses Myelin Sheath Skin Diseases, Infectious Vacuole | ||
| 40 (4.0%) |
3354610 |
Ichthyosis and neutral lipid storage disease. Musumeci S, D'Agata A, Romano C, Patane R, Cutrona D. Am J Med Genet. 1988;29(2):377-82. |
| Cataract | ||
| Genes, Recessive Genetic Carrier Screening Homo sapiens Ichthyoses Leukocytes Lipid Metabolism, Inborn Errors Vacuole | ||
| 40 (4.0%) |
2712248 |
Ichthyosis with laminated membrane structures. Niemi KM, Kanerva L. Am J Dermatopathol. 1989;11(2):149-56. |
| Hyperkeratosis | ||
| Electron Microscopy Epidermis Females Homo sapiens Ichthyoses | ||
| 40 (4.0%) |
2464458 |
Psoriasis occurring in lamellar ichthyosis: response to Epilyt. Baden HP, Byers HR, Goldaber M. Cutis. 1989;43(1):41-3. |
| Parakeratosis | ||
| Adult Biopsy Cytokeratin Dermatologic Agents Females Homo sapiens Hyperplasia Ichthyoses Psoriasis Skin | ||
| 40 (4.0%) |
2010285 |
[Collodion baby with transition to mild lamellar ichthyosis.Clinical course, histopathology and ultrastructural findings]. Langer K, Konrad K, Weninger M, Wolff K. Hautarzt. 1991;42(1):34-8. |
| Hyperkeratosis | ||
| Dermatologic Agents Electron Microscopy Homo sapiens Ichthyosiform Erythroderma, Congenital Infant, Newborn Male Remission, Spontaneous Skin | ||
| 40 (4.0%) |
1002598 |
Ichthyosis in two dogs. Muller GH. J Am Vet Med Assoc. 1976;169(12):1313-6. |
| Hyperkeratosis | ||
| Animals Canis familiaris Dog Diseases Females Ichthyoses Lactates Male Salicylates | ||
| 40 (4.0%) |
843456 |
Ichthyosis with unusual hair shaft abnormalities in siblings. Yesudian P, Srinivas K. Br J Dermatol. 1977;96(2):199-203. |
| Aciduria | ||
| Child Child, Preschool Females Hair Homo sapiens Ichthyoses Male |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000656 | Ectropion | Very frequent (99-80%) |
| HP:0000958 | Dry skin | Very frequent (99-80%) |
| HP:0000962 | Hyperkeratosis | Very frequent (99-80%) |
| HP:0000989 | Pruritus | Very frequent (99-80%) |
| HP:0001006 | Hypotrichosis | Very frequent (99-80%) |
| HP:0001019 | Erythroderma | Very frequent (99-80%) |
| HP:0001597 | Abnormality of the nail | Very frequent (99-80%) |
| HP:0008064 | Ichthyosis | Very frequent (99-80%) |
| HP:0008070 | Sparse hair | Very frequent (99-80%) |
| HP:0100679 | Lack of skin elasticity | Very frequent (99-80%) |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Frequent (79-30%) |
| HP:0011039 | Abnormality of the helix | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000389 | Chronic otitis media | Occasional (29-5%) |
| HP:0001944 | Dehydration | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
| HP:0100758 | Gangrene | Occasional (29-5%) |
| HP:0100806 | Sepsis | Occasional (29-5%) |
Total: 45
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007431 | Congenital ichthyosiform erythroderma | 15 |
| HP:0001019 | Erythroderma | 8 |
| HP:0000656 | Ectropion | 7 |
| HP:0000962 | Hyperkeratosis | 4 |
| HP:0010783 | Erythema | 3 |
| HP:0025608 | Cicatricial ectropion | 3 |
| HP:0002748 | Rickets | 2 |
| HP:0005595 | Generalized hyperkeratosis | 2 |
| HP:0008404 | Nail dystrophy | 2 |
| HP:0100583 | Corneal perforation | 2 |
| HP:0000144 | Decreased fertility | 1 |
| HP:0000485 | Megalocornea | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000506 | Telecanthus | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000713 | Agitation | 1 |
| HP:0000737 | Irritability | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0000966 | Hypohidrosis | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000982 | Palmoplantar keratoderma | 1 |
| HP:0001138 | Optic neuropathy | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002299 | Brittle hair | 1 |
| HP:0002615 | Hypotension | 1 |
| HP:0002673 | Coxa valga | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002857 | Genu valgum | 1 |
| HP:0003020 | Enlargement of the wrists | 1 |
| HP:0003128 | Lactic acidosis | 1 |
| HP:0003155 | Elevated alkaline phosphatase | 1 |
| HP:0003418 | Back pain | 1 |
| HP:0004906 | Hypernatremic dehydration | 1 |
| HP:0007648 | Punctate cataract | 1 |
| HP:0011850 | Parotitis | 1 |
| HP:0012072 | Aciduria | 1 |
| HP:0012108 | Open angle glaucoma | 1 |
| HP:0012804 | Corneal ulceration | 1 |
| HP:0025615 | Abscess | 1 |
| HP:0100018 | Nuclear cataract | 1 |
| HP:0100658 | Cellulitis | 1 |
| HP:0200039 | Pustule | 1 |
Total: 9
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| SULT2B1 | sulfotransferase family 2B member 1 | 6820 |
| SDR9C7 | short chain dehydrogenase/reductase family 9C member 7 | 121214 |
| ABCA12 | ATP binding cassette subfamily A member 12 | 26154 |
| ALOX12B | arachidonate 12-lipoxygenase, 12R type | 242 |
| ALOXE3 | arachidonate lipoxygenase 3 | 59344 |
| TGM1 | transglutaminase 1 | 7051 |
| CYP4F22 | cytochrome P450 family 4 subfamily F member 22 | 126410 |
| NIPAL4 | NIPA like domain containing 4 | 348938 |
| LIPN | lipase family member N | 643418 |