eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| harlequin ichthyosis | ||||
| Disease ID | 831 |
|---|---|
| Disease | harlequin ichthyosis |
| Definition | A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. |
| Synonym | baby syndrome, harlequin baby syndromes, harlequin fetus, harlequin harlequin baby syndrome harlequin baby syndromes harlequin fetus harlequin fetus (disorder) harlequin fetus (disorder) [ambiguous] harlequin foetus harlequin ichthyoses harlequin ichthyosis (disorder) ichthyoses, harlequin ichthyosis, harlequin syndrome, harlequin baby syndromes, harlequin baby |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0239849 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) ABCA12 | 2q35 |
| Disease ID | 831 |
|---|---|
| Disease | harlequin ichthyosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000962 | Hyperkeratosis HP:0100716 | Self-injurious behavior HP:0007431 | Congenital ichthyosiform erythroderma HP:0000457 | Depressed nasal ridge HP:0000656 | Ectropion HP:0000518 | Cataract HP:0001645 | Sudden cardiac death HP:0002093 | Respiratory insufficiency HP:0000364 | Hearing abnormality HP:0001019 | Erythroderma HP:0012472 | Eclabion HP:0001161 | Hand polydactyly HP:0001944 | Dehydration HP:0001829 | Foot polydactyly HP:0001376 | Limitation of joint mobility HP:0008064 | Ichthyosis HP:0002047 | Malignant hyperthermia HP:0002205 | Recurrent respiratory infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 831 |
|---|---|
| Disease | harlequin ichthyosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0155196 | cicatricial ectropion |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10895991 | 12823437 | 823 | CAPN1 | umls:C0239849 | BeFree | Mutational screening of CAPN1 cDNA from different human HI cases revealed a R433P change, but analysis of 50 normal samples demonstrated that this was an apparent polymorphism. | 0.000271442 | 2003 | CAPN1 | 11 | 65204815 | G | A,C |
| rs267606622 | NA | 26154 | ABCA12 | umls:C0239849 | CLINVAR | NA | 0.246514605 | NA | ABCA12 | 2 | 214990791 | C | T |
| rs387906285 | NA | 26154 | ABCA12 | umls:C0239849 | CLINVAR | NA | 0.246514605 | NA | ABCA12 | 2 | 214978432 | T | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0001829 | Foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0002047 | Malignant hyperthermia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007431 | Congenital ichthyosiform erythroderma | MP:0011527 | disorganized placental labyrinth | derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001019 | Erythroderma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001829 | Foot polydactyly | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002047 | Malignant hyperthermia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000656 | Ectropion | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| Disease ID | 831 |
|---|---|
| Disease | harlequin ichthyosis |
| Case | (Waiting for update.) |