| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (56.4%) |
27133359 |
[Ichthyosis and social stigma in Burkina Faso]. Korsaga/Some N, Salissou L, Tapsoba GP, Ouedraogo MS, Traore F, Doulla M, Barro/Traore F, Niamba P, Traore A. Ann Dermatol Venereol. 2016;143(8-9):554-8. |
| Ectropion Brachydactyly | ||
| Adult Burkina Faso Child Congenital Nonbullous Ichthyosiform Erythroderma Females Homo sapiens Infant Male Prejudice Social Marginalization | ||
| 2 (54.6%) |
1476577 |
Sjogren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity. Scalais E, Verloes A, Sacre JP, Pierard GE, Rizzo WB. Pediatr Neurol. 1992;8(6):459-65. |
| Telecanthus Enlarged metaphyses Postaxial polydactyly | ||
| Acoustic Evoked Brain Stem Potentials Alcohol Oxidoreductases Biopsy Bone Diseases, Developmental Brain Stem Child Child, Preschool Females Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Neurologic Examination Phenotype Sjogren-Larsson Syndrome Skin Somatosensory Cortex Somatosensory Evoked Potentials | ||
| 3 (42.3%) |
27920816 |
Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis. Torkamani N, Phal P, Savarirayan R, Simm P, Varigos G, Wark J. Clin Cases Miner Bone Metab. 2016;13(2):157-159. |
| Ectropion Osteoporosis | ||
| TGM1 | ||
| 3 (42.3%) |
26439315 |
A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature. Angmo D, Patil B, Agarwal R, Mohanty K, Singh A. J Glaucoma. 2016;25(3):e280-3. |
| Blepharitis Rickets | ||
| CYP1B1 MYOC NTF4 TGM1 WDR36 | ||
| Congenital Nonbullous Ichthyosiform Erythroderma Glaucoma, Open-Angle Gonioscopy Homo sapiens Male Polymerase Chain Reaction Trabeculectomy Visual Acuity | ||
| 5 (40.1%) |
30166818 (6100339) |
Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus. Cucuzza ME, Mendola F, D'Ambra A, Smilari P, Greco F, Fiumara A, Pratico AD. J Glob Infect Dis. 2018;10(3):166-168. |
| Back pain Parotitis | ||
| 6 (39.8%) |
29786003 (5989517) |
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis. Bubanale SC, De Piedade Sequeira LMG, Kurbet BB. Indian J Ophthalmol. 2018;66(6):856-858. |
| Ectropion Cellulitis | ||
| Abscess Congenital Nonbullous Ichthyosiform Erythroderma Conjunctival Diseases Differential Diagnosis Eye Infections, Bacterial Females Homo sapiens Infant, Newborn Methicillin-Resistant Staphylococcus aureus Staphylococcal Infections Ultrasonography | ||
| 6 (39.8%) |
29334142 |
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. Singh M, Kaur M, Kaur R, Singh S. Pediatr Dermatol. 2018;35(2):e117-e120. |
| Corneal scarring Ectropion | ||
| Anti-Infective Agents, Local Congenital Nonbullous Ichthyosiform Erythroderma Ectropion Homo sapiens Infant, Newborn Keratolytic Agents Male | ||
| 8 (33.8%) |
15231983 |
Nutritional rickets in ichthyosis and response to calcipotriene. Thacher TD, Fischer PR, Pettifor JM, Darmstadt GL. Pediatrics. 2004;114(1):e119-23. |
| Rickets Enlargement of the wrists | ||
| Administration, Cutaneous Child Congenital Nonbullous Ichthyosiform Erythroderma Dermatologic Agents Females Homo sapiens Ichthyosis, X-Linked Male Ointments Rickets Vitamin D Deficiency | ||
| 9 (32.7%) |
23175137 |
Lamellar ichthyosis with genu valgum: unfolding the link. Deka N, Sarma D, Saikia UK. BMJ Case Rep. 2012;2012:. |
| Rickets Genu valgum | ||
| Biopsy Congenital Nonbullous Ichthyosiform Erythroderma Differential Diagnosis Females Homo sapiens Rickets Skin Vitamin D Deficiency Young Adult | ||
| 10 (30.8%) |
30847336 |
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. Alallasi SR, Kokandi AA, Banagnapali B, Shaik NA, Al-Shehri BA, Alrayes NM, Al-Aama JY, Jelani M. Front Pediatr. 2019;7:44. |
| Ectropion | ||
| TGM1 | ||
| c|SUB|G|1141|A c|SUB|G|758-1|C p|SUB|A|381|T | ||
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 |