| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (30.8%) |
26520282 |
Chanarin-Dorfman syndrome: A case report and review of the literature. Mogahed EA, El-Hennawy A, El-Sayed R, El-Karaksy H. Arab J Gastroenterol. 2015;16(3-4):142-4. |
| Ectropion | ||
| Child, Preschool Creatine Kinase Hepatomegaly Homo sapiens Ichthyosiform Erythroderma, Congenital Lipid Metabolism, Inborn Errors Liver Function Tests Male Myopathy Triglycerides Vacuole | ||
| 2 (17.5%) |
23232698 |
Symptomatic lipid storage in carriers for the PNPLA2 gene. Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Eur J Hum Genet. 2013;21(8):807-15. |
| Myopathy | ||
| PNPLA2 | ||
| rs796065303 | ||
| Adult Child Child, Preschool Electron Microscopy Females Heterozygote Homo sapiens Lipid Metabolism, Inborn Errors Male Muscle Tissue Mutation Myopathy | ||
| 2 (17.5%) |
2241202 |
Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity. Koone MD, Rizzo WB, Elias PM, Williams ML, Lightner V, Pinnell SR. Arch Dermatol. 1990;126(11):1485-90. |
| Spasticity | ||
| TXNRD1 | ||
| Alcohol Oxidoreductases Fatty Alcohols Females Fibroblasts Homo sapiens Ichthyoses Intellectual Disability Lipids Muscle Spasticity Skin Syndrome Vacuole | ||
| 4 (4.0%) |
20022472 |
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. Ujihara M, Nakajima K, Yamamoto M, Teraishi M, Uchida Y, Akiyama M, Shimizu H, Sano S. J Dermatol Sci. 2010;57(2):102-7. |
| Erythroderma | ||
| ABHD5 PNPLA2 | ||
| Amino Acid Substitution Asians Base Sequence Congenital Nonbullous Ichthyosiform Erythroderma Electron Microscopy Epidermis Exons Genes, Recessive Heterozygote Homo sapiens Lipid Metabolism, Inborn Errors Lipids Male Middle Aged Missense Mutation Point Mutation Seasons Severity of Illness Index Skin Triglycerides |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | Very frequent (99-80%) |
| HP:0009073 | Progressive proximal muscle weakness | Very frequent (99-80%) |
| HP:0000385 | Small earlobe | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000523 | Subcapsular cataract | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000656 | Ectropion | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001284 | Areflexia | Frequent (79-30%) |
| HP:0001397 | Hepatic steatosis | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001638 | Cardiomyopathy | Frequent (79-30%) |
| HP:0001911 | Abnormal granulocyte morphology | Frequent (79-30%) |
| HP:0002155 | Hypertriglyceridemia | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002355 | Difficulty walking | Frequent (79-30%) |
| HP:0002910 | Elevated hepatic transaminase | Frequent (79-30%) |
| HP:0002922 | Increased CSF protein | Frequent (79-30%) |
| HP:0003198 | Myopathy | Frequent (79-30%) |
| HP:0003458 | EMG: myopathic abnormalities | Frequent (79-30%) |
| HP:0003547 | Shoulder girdle muscle weakness | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0012240 | Increased intramyocellular lipid droplets | Frequent (79-30%) |
| HP:0012472 | Eclabion | Frequent (79-30%) |
| HP:0040081 | Abnormal circulating creatine kinase concentration | Frequent (79-30%) |
| HP:0001413 | Micronodular cirrhosis | Occasional (29-5%) |
| HP:0007009 | Central nervous system degeneration | Occasional (29-5%) |
| HP:0001513 | Obesity | Excluded (0%) |
| HP:0001946 | Ketosis | Excluded (0%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0007431 | Congenital ichthyosiform erythroderma | 1 |