PedAM

Pediatric Disease Annotations & Medicines


	melkersson-rosenthal syndrome

Disease ID	77
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	ORPHANET:2483
OMIM	OMIM:155900
DOID	DOID:1761
ICD10	ICD10CM:G51.2
UMLS	C0025235
MeSH	D008556
SNOMED-CT	SNOMEDCT_US_2016_09_01:215617000;SNOMEDCT_US_2016_09_01:37770007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0003864 \| arthritis \| 1 C0003872 \| psoriatic arthritis \| 1 C0040147 \| thyroiditis \| 1 C0154733 \| multiple cranial nerve palsies \| 1 C0015464 \| facial palsy \| 1 C0028768 \| obsessive-compulsive disorder \| 1 C0013080 \| trisomy 21 \| 1 C0016436 \| folliculitis \| 1 C0037315 \| sleep apnea \| 1 C0677607 \| hashimoto thyroiditis \| 1 C0520679 \| obstructive sleep apnea \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) MROS \| 8011 \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:19) 920 \| CD4 \| DISEASES 81622 \| UNC93B1 \| DISEASES 968 \| CD68 \| DISEASES 376497 \| SLC27A1 \| DISEASES 28965 \| SLC27A6 \| DISEASES 710 \| SERPING1 \| DISEASES 925 \| CD8A \| DISEASES 1636 \| ACE \| DISEASES 64127 \| NOD2 \| DISEASES 3906 \| LALBA \| DISEASES 171558 \| PTCRA \| DISEASES 8856 \| NR1I2 \| DISEASES 2058 \| EPRS \| DISEASES 5788 \| PTPRC \| DISEASES 959 \| CD40LG \| DISEASES 7133 \| TNFRSF1B \| DISEASES 5799 \| PTPRN2 \| DISEASES 3481 \| IGF2 \| DISEASES 65980 \| BRD9 \| DISEASES
Locus	(Waiting for update.)

Disease ID	77
Disease	melkersson-rosenthal syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:18) HP:0001945 \| Fever HP:0000639 \| Nystagmus HP:0010471 \| Oligosacchariduria HP:0010628 \| Facial palsy HP:0100539 \| Periorbital edema HP:0002716 \| Lymphadenopathy HP:0000158 \| Macroglossia HP:0000221 \| Scrotal tongue HP:0000282 \| Facial puffiness HP:0000221 \| Furrowed tongue HP:0000298 \| Mask-like facies HP:0000969 \| Edema HP:0011123 \| Inflammatory abnormality of the skin HP:0000478 \| Abnormal eye HP:0006824 \| Cranial nerve paralysis HP:0100825 \| Cheilitis HP:0010628 \| Facial palsy, unilateral or bilateral HP:0002459 \| Dysautonomia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0100540 \| Swelling of eyelids \| 4 HP:0000969 \| Dropsy \| 2 HP:0010535 \| Sleep apnea \| 1 HP:0010628 \| Facial palsy, unilateral or bilateral \| 1 HP:0100646 \| Thyroiditis \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0012724 \| Cellulitis of upper eyelid \| 1 HP:0000722 \| Obsessive compulsive disorder \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0100825 \| Inflammation of the lips \| 1 HP:0001369 \| Arthritis \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0002664 \| Neoplasia \| 1 HP:0002955 \| Granulomatosis \| 1

Disease ID	77
Disease	melkersson-rosenthal syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C1527344 \| dysphonia C0920350 \| hashimoto's thyroiditis C0600268 \| cheilitis granulomatosa C0042165 \| anterior uveitis C0024138 \| discoid lupus erythematosus C0015469 \| facial paralysis C0015469 \| facial palsy C0013604 \| oedema C0010266 \| cranial nerve disorders C0001883 \| respiratory obstruction
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0015464 \| facial palsy \| 1 C0600268 \| cheilitis granulomatosa \| 1

Manually Genotype(Total Text Mining 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000179	Thick lower lip vermilion	MP:0005170	cleft upper lip;HP:0004370	Abnormality of temperature regulation

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002716	Lymphadenopathy	MP:0002420	abnormal adaptive immunity;HP:0000179	Thick lower lip vermilion

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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