MRS
MCID: MLK003
MIFTS: 58

Melkersson-Rosenthal Syndrome (MRS)

Categories: Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melkersson-Rosenthal Syndrome

MalaCards integrated aliases for Melkersson-Rosenthal Syndrome:

Name: Melkersson-Rosenthal Syndrome 57 12 53 54 59 13 44 15 73
Melkersson Syndrome 57 53
Mros 57 53
Mrs 57 53
Cheilitis Granulomatosa of Mescher-Melkersson-Rosenthal 12
Melkerssonrosenthal Syndrome 76
Cheilitis Granulomatosa 53
Granulomatous Cheilitis 73
Melkersson's Syndrome 12
Mros; Mrs 57

Characteristics:

Orphanet epidemiological data:

59
melkersson-rosenthal syndrome
Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or youth


HPO:

32
melkersson-rosenthal syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 155900
Disease Ontology 12 DOID:1761
ICD10 33 G51.2
MeSH 44 D008556
NCIt 50 C84886
SNOMED-CT 68 2511001 37770007
Orphanet 59 ORPHA2483
UMLS via Orphanet 74 C0025235
ICD10 via Orphanet 34 G51.2
MESH via Orphanet 45 D008556
MedGen 42 C0025235

Summaries for Melkersson-Rosenthal Syndrome

NIH Rare Diseases : 53 Melkersson-Rosenthal syndrome (MRS) is a rare, inherited syndrome that affects the nervous system and skin (a neurocutaneous syndrome). MRS may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips, and fissuring of the tongue (formation of deep grooves). The majority of people with MRS only have one or two of these features, rather than all three. The age when symptoms begin and frequency of episodes varies from person to person (even within the same family), but usually symptoms begin during childhood or early adolescence. Recurrent episodes may lead to worsening and persistent swelling, which may become permanent. MRS is more common in females than in males. Inheritance of MRS is autosomal dominant, but a consistent genetic cause has not been found. It is possible that more than one gene is responsible for MRS, and/or that environmental "triggers" may contribute to causing the syndrome in some genetically predisposed individuals. In some cases, MRS may be associated with Crohn's disease or sarcoidosis. MRS is diagnosed based on the symptoms present and medical history, and a biopsy of the lips may be needed to confirm the diagnosis in some cases. Treatment for MRS aims to relieve symptoms, but the effectiveness of current treatment options has not been well-established. Treatment options may include medications to reduce swelling (such as nonsteroidal anti-inflammatory drugs and corticosteroids), antibiotics, immunosuppressants, surgery (to relieve pressure on the facial nerves and reduce swelling), and facial rehabilitation (which may involve physiotherapy and speech-language therapy).

MalaCards based summary : Melkersson-Rosenthal Syndrome, also known as melkersson syndrome, is related to psoriatic arthritis and spondyloarthropathy 1, and has symptoms including lip swelling and oral manifestations. An important gene associated with Melkersson-Rosenthal Syndrome is MROS (Melkersson-Rosenthal Syndrome), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. Affiliated tissues include tongue, skin and thyroid, and related phenotypes are nystagmus and facial palsy

NINDS : 54 Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.

Wikipedia : 76 Melkersson�??Rosenthal syndrome (also termed "Miescher-Melkersson-Rosenthal syndrome"), is a rare... more...

Description from OMIM: 155900

Related Diseases for Melkersson-Rosenthal Syndrome

Diseases related to Melkersson-Rosenthal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1911)
# Related Disease Score Top Affiliating Genes
1 psoriatic arthritis 30.1 TNFRSF1B TNF NOD2
2 spondyloarthropathy 1 29.6 TNFRSF1B TNF NOD2
3 spondylitis 29.6 TNFRSF1B TNF NOD2
4 xanthogranulomatous cholecystitis 29.4 CD8A CD68 CD4
5 thymus lipoma 29.2 PTPRC CD8A CD4
6 peroneal neuropathy 29.0 TNFRSF1B TNF
7 rhinoscleroma 28.8 TNFRSF1B CD68
8 granulomatous myositis 28.8 TNFRSF1B CD68
9 sarcoidosis 1 28.6 TNFRSF1B TNF PTPRC NOD2 CD68 ACE
10 orofacial granulomatosis 11.8
11 nguyen syndrome 11.5
12 microphthalmia 11.3
13 spastic paraplegia 2, x-linked 11.2
14 richieri-costa/guion-almeida syndrome 11.1
15 amme complex 11.1
16 perrault syndrome 1 11.1
17 stroke, ischemic 11.1
18 prekallikrein deficiency 11.0
19 rickettsialpox 11.0
20 benjamin syndrome 11.0
21 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.0
22 cutis verticis gyrata and mental retardation 11.0
23 congenital muscular dystrophy with intellectual disability 11.0
24 congenital muscular dystrophy without intellectual disability 11.0
25 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 11.0
26 cheilitis 10.8
27 osteoporotic fracture 10.8
28 crohn's disease 10.6
29 vulvitis 10.4
30 thyroiditis 10.4
31 arthritis 10.3
32 lymphoma 10.3
33 ehlers-danlos syndrome 10.3
34 ventilation pneumonitis 10.3 TNF CD4
35 uveoparotid fever 10.3 TNF ACE
36 subacute cutaneous lupus erythematosus 10.3 TNF ACE
37 osteoporosis 10.3
38 ileocolitis 10.2 TNF NOD2
39 metal allergy 10.2 CD8A CD4
40 encephalopathy 10.2
41 chronic gonococcal salpingitis 10.2 TNFRSF1B TNF
42 polyclonal hypergammaglobulinemia 10.2 CD8A CD4
43 juvenile ankylosing spondylitis 10.2 TNFRSF1B TNF
44 osteoarthritis 10.2
45 rheumatoid lung disease 10.2 TNFRSF1B TNF
46 pustulosis of palm and sole 10.2 TNFRSF1B TNF
47 scleral disease 10.2 TNFRSF1B TNF
48 complement component 4, partial deficiency of 10.2
49 multiple sclerosis 10.2
50 hashimoto thyroiditis 10.2

Graphical network of the top 20 diseases related to Melkersson-Rosenthal Syndrome:



Diseases related to Melkersson-Rosenthal Syndrome

Symptoms & Phenotypes for Melkersson-Rosenthal Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial edema

Head And Neck Eyes:
insidious, painless, nonpitting eyelid edema
periorbital heterogeneous thickening on ct scan
granulomatous lymphangitis on eyelid biopsy

Head And Neck Mouth:
fissured tongue
scrotal tongue
lip swelling

Neurologic Peripheral Nervous System:
recurrent peripheral facial palsy


Clinical features from OMIM:

155900

Human phenotypes related to Melkersson-Rosenthal Syndrome:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
3 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
4 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
5 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
6 oligosacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0010471
7 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
8 periorbital edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100539
9 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
10 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
11 inflammatory abnormality of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011123
12 dysautonomia 59 Occasional (29-5%)
13 cranial nerve paralysis 59 Very frequent (99-80%)
14 abnormality of the eye 32 HP:0000478
15 edema 59 Very frequent (99-80%)
16 facial edema 32 HP:0000282
17 abnormal autonomic nervous system physiology 32 occasional (7.5%) HP:0012332

UMLS symptoms related to Melkersson-Rosenthal Syndrome:


lip swelling, oral manifestations

GenomeRNAi Phenotypes related to Melkersson-Rosenthal Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.92 IGF2 PTPRC PTPRN2 TNF

MGI Mouse Phenotypes related to Melkersson-Rosenthal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.06 ACE CD4 CD68 CD8A IGF2 NOD2
2 homeostasis/metabolism MP:0005376 10.03 ACE CD4 EPRS IGF2 NOD2 NR1I2
3 endocrine/exocrine gland MP:0005379 10.02 ACE CD4 CD8A IGF2 LALBA PTCRA
4 immune system MP:0005387 9.9 ACE CD4 CD68 CD8A IGF2 NOD2
5 liver/biliary system MP:0005370 9.5 ACE IGF2 NR1I2 PTPRC TNF TNFRSF1B
6 no phenotypic analysis MP:0003012 9.17 CD4 CD68 IGF2 NR1I2 PTCRA PTPRC

Drugs & Therapeutics for Melkersson-Rosenthal Syndrome

Search Clinical Trials , NIH Clinical Center for Melkersson-Rosenthal Syndrome

Cochrane evidence based reviews: melkersson-rosenthal syndrome

Genetic Tests for Melkersson-Rosenthal Syndrome

Anatomical Context for Melkersson-Rosenthal Syndrome

MalaCards organs/tissues related to Melkersson-Rosenthal Syndrome:

41
Tongue, Skin, Thyroid, Brain, Kidney, Bone, Eye

Publications for Melkersson-Rosenthal Syndrome

Articles related to Melkersson-Rosenthal Syndrome:

(show top 50) (show all 239)
# Title Authors Year
1
A systematic review of the literature of the three related disease entities cheilitis granulomatosa, orofacial granulomatosis and Melkersson - Rosenthal syndrome. ( 29766816 )
2018
2
Melkersson-Rosenthal syndrome successfully treated with adalimumab. ( 29554155 )
2018
3
Melkersson-Rosenthal syndrome: the possible role of co-morbidities in the etiopathogenesis. ( 29781258 )
2018
4
Melkersson-Rosenthal Syndrome: A Rare Cause of Recurrent Facial Nerve Palsy and Acute Respiratory Distress Syndrome. ( 29984016 )
2018
5
The Light at the End of the Tunnel: A Case of Dysautonomia Associated With Melkersson-Rosenthal Syndrome ( 30520282 )
2018
6
One of the Faces of Facial Swelling: Melkersson-Rosenthal Syndrome. ( 30073961 )
2018
7
Intravenous immunoglobulins in Melkersson-Rosenthal syndrome: A clinical and neuroimaging study. ( 30102792 )
2018
8
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome. ( 30217753 )
2018
9
Melkersson-Rosenthal Syndrome Presenting as Isolated Eyelid Edema. ( 28126075 )
2017
10
Melkersson-rosenthal syndrome: a case report. ( 28955585 )
2017
11
[Melkersson-Rosenthal syndrome in a young man]. ( 28606298 )
2017
12
Cheilitis Granulomatosa (Miescher Melkersson Rosenthal Syndrome) ( 29261927 )
2017
13
Melkersson-Rosenthal syndrome. ( 29088398 )
2017
14
Melkersson-Rosenthal Syndrome: A Case Report With a Psychosomatic Perspective. ( 28183073 )
2017
15
Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy. ( 27081272 )
2016
16
Melkersson-Rosenthal Syndrome. ( 27843069 )
2016
17
Successful treatment of Melkersson-Rosenthal syndrome with dapsone: a case report and review of the literature. ( 28329598 )
2016
18
MELKERSSON-ROSENTHAL SYNDROME-A RARE FINDING. ( 27323603 )
2016
19
Recurrent Facial Palsy and Electrophysiological Findings in Oligosymptomatic Melkersson Rosenthal Syndrome. ( 27165478 )
2016
20
Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome. ( 27862329 )
2016
21
Melkersson-Rosenthal syndrome with involvement of masticatory muscles. ( 25562719 )
2015
22
Melkersson-Rosenthal syndrome. ( 26375775 )
2015
23
Melkersson-Rosenthal syndrome as an early manifestation of mixed connective tissue disease. ( 26698837 )
2015
24
CLINICAL CHARACTERISTICS AND TREATMENT OF MELKERSSON-ROSENTHAL SYNDROME--OVERVIEW OF SIX PATIENTS. ( 26939307 )
2015
25
Clinicopathological significance of Melkersson-Rosenthal syndrome. ( 26231188 )
2015
26
Obsessive-compulsive disorder concurrent with Melkersson-Rosenthal Syndrome: a case report. ( 26153455 )
2015
27
Melkersson-Rosenthal Syndrome with Orofacial Swelling and Recurrent Lower Motor Neuron Facial Nerve Palsy: A Case Report and Review of the Literature. ( 26635986 )
2015
28
Periocular intralymphatic histiocytosis or localized Melkersson-Rosenthal syndrome? ( 25370527 )
2015
29
Recurrent facial palsy in Melkersson Rosenthal syndrome: total facial nerve decompression is effective to prevent further recurrence. ( 25708818 )
2014
30
Tufted hair folliculitis associated with Melkersson-Rosenthal syndrome and hidradenitis suppurativa. ( 25201871 )
2014
31
Melkersson-Rosenthal syndrome. ( 25540530 )
2014
32
Melkersson-Rosenthal syndrome: a retrospective study of 44 patients. ( 24963969 )
2014
33
Facial Palsy in Melkersson-Rosenthal Syndrome and Bell's Palsy: Familial History and Recurrence Tendency. ( 25124841 )
2014
34
Outcomes of Recurrent Facial Palsy in Melkersson Rosenthal Syndrome. ( 25385841 )
2014
35
Melkersson-Rosenthal syndrome: a facial nerve center perspective. ( 24874612 )
2014
36
Melkersson-Rosenthal Syndrome with Isolated Unilateral Eyelid Edema: An Immunopathologic Study. ( 24853119 )
2014
37
Melkersson-rosenthal syndrome with hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder. ( 24656464 )
2014
38
Subtotal facial nerve decompression for recurrent facial palsy in Melkersson Rosenthal syndrome. ( 24512460 )
2014
39
An extraordinary form of the Melkersson-Rosenthal syndrome successfully treated with the tumour necrosis factor-α blocker adalimumab. ( 24827666 )
2014
40
Melkersson-Rosenthal syndrome in a patient with psoriatic arthritis receiving etanercept. ( 23527726 )
2013
41
The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases. ( 22836908 )
2013
42
Melkersson-Rosenthal syndrome: a review of seven patients. ( 23664134 )
2013
43
Isolated eyelid edema in Melkersson-Rosenthal syndrome: a case series. ( 22056858 )
2012
44
Re 'Isolated eyelid edema in Melkersson-Rosenthal syndrome: a case series'. ( 22422032 )
2012
45
Successful treatment of Miescher's cheilitis in Melkersson-Rosenthal syndrome with betamethasone injections and doxycycline. ( 23397029 )
2012
46
Melkersson-Rosenthal syndrome: a possible association with psoriasis. ( 22980256 )
2012
47
Granulomatous cheilitis of Miescher: the diagnostic proof for a Melkersson-Rosenthal syndrome. ( 23188453 )
2012
48
Vulvitis granulomatosa, Melkersson-Rosenthal syndrome, and Crohn's disease: dramatic response to infliximab therapy. ( 22788815 )
2012
49
Compression therapy: an adjuvant treatment for orofacial granulomatosis in Melkersson-Rosenthal syndrome? ( 21873143 )
2011
50
Melkersson-Rosenthal syndrome presenting with isolated bilateral eyelid swelling: a clinicopathologic correlation. ( 21784219 )
2011

Variations for Melkersson-Rosenthal Syndrome

Expression for Melkersson-Rosenthal Syndrome

Search GEO for disease gene expression data for Melkersson-Rosenthal Syndrome.

Pathways for Melkersson-Rosenthal Syndrome

GO Terms for Melkersson-Rosenthal Syndrome

Cellular components related to Melkersson-Rosenthal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.26 CD4 PTPRC TNF TNFRSF1B
2 T cell receptor complex GO:0042101 9.16 CD4 CD8A
3 external side of plasma membrane GO:0009897 9.02 ACE CD4 CD8A PTPRC TNF
4 plasma membrane GO:0005886 10.03 ACE CD4 CD68 CD8A EPRS NOD2

Biological processes related to Melkersson-Rosenthal Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.91 CD4 CD8A NOD2 SERPING1 UNC93B1
2 cell surface receptor signaling pathway GO:0007166 9.73 CD4 CD8A PTPRC TNFRSF1B
3 activation of MAPK activity GO:0000187 9.7 NOD2 PTPRC TNF
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.62 CD4 NOD2 PTPRC TNF
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.54 CD4 IGF2 PTPRC
6 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.49 TNF TNFRSF1B
7 fatty acid transport GO:0015908 9.48 SLC27A1 SLC27A6
8 long-chain fatty acid transport GO:0015909 9.46 SLC27A1 SLC27A6
9 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.4 CD4 PTPRC
10 positive regulation of protein kinase activity GO:0045860 9.33 CD4 PTPRC TNF
11 long-chain fatty acid import GO:0044539 9.26 EPRS SLC27A1
12 T cell activation GO:0042110 9.13 CD4 CD8A PTPRC
13 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 8.62 PTPRC TNF

Molecular functions related to Melkersson-Rosenthal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.32 PTPRC PTPRN2
2 long-chain fatty acid-CoA ligase activity GO:0004467 9.26 SLC27A1 SLC27A6
3 long-chain fatty acid transporter activity GO:0005324 9.16 SLC27A1 SLC27A6
4 very long-chain fatty acid-CoA ligase activity GO:0031957 8.96 SLC27A1 SLC27A6
5 fatty acid transmembrane transporter activity GO:0015245 8.62 SLC27A1 SLC27A6

Sources for Melkersson-Rosenthal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....