eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| melkersson-rosenthal syndrome | ||||
| Disease ID | 149 |
|---|---|
| Disease | melkersson-rosenthal syndrome |
| Definition | An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531) |
| Synonym | cheilitis granulomatosa of mescher-melkersson-rosenthal cheilitis granulomatosa of miescher-melkersson-rosenthal cheilitis granulomatosa of miescher-melkersson-rosenthal (disorder) cheilitis granulomatosa of miescher-melkersson-rosenthal (disorder) [ambiguous] cheilitis granulomatosa, facial neuropathy, orofacial edema cheilitis granulomatosa, orofacial edema, facial neuropathy cheilitis, miescher-melkersson-rosenthal granulomatous facial neuropathy, cheilitis granulomatosa, orofacial edema facial neuropathy, orofacial edema, cheilitis granulomatosa granulomatous cheilitis, miescher-melkersson-rosenthal macrocheilia, facial palsy and edema syndrome macrocheilia, facial palsy and oedema syndrome macrocheilia, facial palsy, edema melkerson rosenthal syndrome melkerson-rosenthal syndrome melkersson rosenthal miescher syndrome melkersson rosenthal syndrome melkersson syndrome melkersson's syndrome melkersson's syndrome (disorder) melkersson-rosenthal syndrome [disease/finding] melkersson-rosenthal-miescher syndrome miescher melkersson rosenthal granulomatous cheilitis miescher-melkersson-rosenthal granulomatous cheilitis mros orofacial edema, cheilitis granulomatosa, facial neuropathy orofacial edema, facial neuropathy, cheilitis granulomatosa rosenthal melkerson syndrome rosenthal melkersson syndrome rosenthal-melkerson syndrome rosenthal-melkersson syndrome syndrome, melkerson rosenthal |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0025235 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0015464 | facial palsy | 4 C0037315 | sleep apnea | 1 C0040147 | thyroiditis | 1 C0003864 | arthritis | 1 C0016436 | folliculitis | 1 C0013080 | trisomy 21 | 1 C0003872 | psoriatic arthritis | 1 C0520679 | obstructive sleep apnea | 1 C0028768 | obsessive-compulsive disorder | 1 C0677607 | hashimoto thyroiditis | 1 C0154733 | multiple cranial nerve palsies | 1 C0011847 | diabetes | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | (Waiting for update.) |
| Disease ID | 149 |
|---|---|
| Disease | melkersson-rosenthal syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000221 | Furrowed tongue | MP:0000764 | abnormal tongue epithelium morphology | any structural anomaly of the epithelial layer of the tongue |
| HP:0000282 | Facial edema | MP:0006167 | eyelid edema | an abnormal accumulation of fluid in the eyelid |
| HP:0100539 | Periorbital edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100539 | Periorbital edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000221 | Furrowed tongue | 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:0000298 | Mask-like facies | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100825 | Cheilitis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000282 | Facial edema | MP:0009643 | abnormal urine homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of the various chemical or protein components of the urine |
| HP:0002459 | Dysautonomia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000639 | Nystagmus | 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 149 |
|---|---|
| Disease | melkersson-rosenthal syndrome |
| Case | (Waiting for update.) |