MRS
MCID: MLK003
MIFTS: 43

Melkersson-Rosenthal Syndrome (MRS)

Categories: Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Melkersson-Rosenthal Syndrome

MalaCards integrated aliases for Melkersson-Rosenthal Syndrome:

Name: Melkersson-Rosenthal Syndrome 57 12 73 20 53 58 13 44 15 17 70
Melkersson Syndrome 57 20 32
Mros 57 20
Mrs 57 20
Cheilitis Granulomatosa of Mescher-Melkersson-Rosenthal 12
Cheilitis Granulomatosa 20
Granulomatous Cheilitis 70
Melkersson's Syndrome 12
Mros; Mrs 57

Characteristics:

Orphanet epidemiological data:

58
melkersson-rosenthal syndrome
Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or youth


HPO:

31
melkersson-rosenthal syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare allergic disease


External Ids:

Disease Ontology 12 DOID:1761
OMIM® 57 155900
MeSH 44 D008556
NCIt 50 C84886
SNOMED-CT 67 2511001
ICD10 32 G51.2
MESH via Orphanet 45 D008556
ICD10 via Orphanet 33 G51.2
UMLS via Orphanet 71 C0025235
Orphanet 58 ORPHA2483
MedGen 41 C0025235
UMLS 70 C0025235 C0600268

Summaries for Melkersson-Rosenthal Syndrome

GARD : 20 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 facial paralysis and stroke, ischemic, and has symptoms including oral manifestations and lip swelling. An important gene associated with Melkersson-Rosenthal Syndrome is MROS (Melkersson-Rosenthal Syndrome), and among its related pathways/superpathways are Transport of vitamins, nucleosides, and related molecules and PPAR signaling pathway. Affiliated tissues include tongue, eye and skin, and related phenotypes are mask-like facies and oligosacchariduria

NINDS : 53 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 : 73 Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial... more...

More information 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 748)
# Related Disease Score Top Affiliating Genes
1 facial paralysis 31.6 TNF ACE
2 stroke, ischemic 31.0 TNF MROS ACE
3 iridocyclitis 30.2 TNF ACE
4 retinal vasculitis 30.2 TNF ACE
5 panuveitis 30.2 TNF ACE
6 choroiditis 30.0 TNF ACE
7 c1 inhibitor deficiency 29.9 SERPING1 ACE
8 purpura 29.9 TNF ACE
9 syphilis 29.8 TNF ACE
10 sleep apnea 29.7 TNF ACE
11 sleep disorder 29.7 TNF ACE
12 urticaria 29.6 TNF SERPING1 ACE
13 acute kidney tubular necrosis 29.3 TNF ACE
14 pyelonephritis 29.2 TNF ACE
15 severe acute respiratory syndrome 29.1 TNF ACE
16 dilated cardiomyopathy 28.3 TNF SLC27A6 SLC27A1 ACE
17 orofacial granulomatosis 11.4
18 cheilitis 11.0
19 fissured tongue 11.0
20 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 10.9
21 mitochondrial complex ii deficiency, nuclear type 2 10.9
22 crohn's disease 10.7
23 bell's palsy 10.7
24 sarcoidosis 1 10.6
25 angioedema 10.6
26 blepharitis 10.5
27 glossitis 10.4
28 rosacea 10.4
29 recurrent peripheral facial palsy 10.4
30 glial tumor 10.4
31 glioma 10.4
32 leprosy 3 10.4
33 uveitis 10.4
34 vulvitis 10.4
35 hansen's disease 10.4
36 major affective disorder 8 10.4
37 major affective disorder 9 10.4
38 bipolar disorder 10.4
39 temporal lobe epilepsy 10.4
40 schizophrenia 10.3
41 migraine with or without aura 1 10.3
42 inflammatory bowel disease 10.3
43 megacolon 10.3
44 allergic disease 10.3
45 hereditary angioedema 10.3
46 contact dermatitis 10.3
47 thyroiditis 10.3
48 lymphangitis 10.3
49 osteoporosis 10.3
50 bone mineral density quantitative trait locus 8 10.3

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



Diseases related to Melkersson-Rosenthal Syndrome

Symptoms & Phenotypes for Melkersson-Rosenthal Syndrome

Human phenotypes related to Melkersson-Rosenthal Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
2 oligosacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0010471
3 cheilitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100825
4 periorbital edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100539
5 inflammatory abnormality of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011123
6 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
7 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
8 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
9 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
10 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
11 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
12 abnormal autonomic nervous system physiology 31 occasional (7.5%) HP:0012332
13 dysautonomia 58 Occasional (29-5%)
14 cranial nerve paralysis 58 Very frequent (99-80%)
15 abnormality of the eye 31 HP:0000478
16 edema 58 Very frequent (99-80%)
17 facial edema 31 HP:0000282

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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:
lip swelling
fissured tongue
scrotal tongue

Neurologic Peripheral Nervous System:
recurrent peripheral facial palsy

Clinical features from OMIM®:

155900 (Updated 05-Apr-2021)

UMLS symptoms related to Melkersson-Rosenthal Syndrome:


oral manifestations; lip swelling

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:

40
Tongue, Eye, Skin

Publications for Melkersson-Rosenthal Syndrome

Articles related to Melkersson-Rosenthal Syndrome:

(show top 50) (show all 619)
# Title Authors PMID Year
1
A case of Melkersson-Rosenthal syndrome associated with Ehlers-Danlos syndrome. 57 61
12150220 2002
2
Melkersson-Rosenthal syndrome: new clinicopathologic findings in 4 cases. 61 57
10676788 2000
3
Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation. 61 57
7923865 1994
4
Is the Melkersson-Rosenthal syndrome hereditary? 61 57
5862634 1966
5
A Systematic Review of the Literature of the Three Related Disease Entities Cheilitis Granulomatosa, Orofacial Granulomatosis and Melkersson - Rosenthal Syndrome. 20 61
29766816 2018
6
Melkersson-Rosenthal's syndrome in four generations. 57
761419 1979
7
Melkersson's syndrome. A case report of multiple recurrences of Bell's palsy and episodic facial edema. 57
5846695 1965
8
Reply to: "The histopathological spectrum of Melkersson-Rosenthal syndrome: Analysis of 47 cases". 61
33305383 2021
9
A case of Melkersson-Rosenthal syndrome with endocrine disorders: Extraordinary efficiency of hydroxychloroquine and mechanism hypothesis. 61
33270950 2021
10
Melkersson-Rosenthal Syndrome Induced by COVID-19. 61
32829989 2021
11
Clinical Profile of Melkersson-Rosenthal Syndrome/Orofacial Granulomatosis: A Review of 51 Patients. 61
33573395 2021
12
Isolated bilateral eyelid edema in Melkersson-Rosenthal syndrome. 61
33491206 2021
13
Orofacial Granulomatosis: Clinical and Therapeutic Features in an Italian Cohort And Review of the Literature. 61
33641182 2021
14
Presentation of Bilateral Facial Paralysis in Melkersson-Rosenthal Syndrome. 61
33505744 2021
15
Recurrent peripheral facial palsy as an initial manifestation of Melkersson-Rosenthal syndrome. 61
32933801 2021
16
Melkersson-Rosenthal syndrome misdiagnosed as recurrent Bell's palsy: a case report and review of literature. 61
33422123 2021
17
Melkersson-Rosenthal Syndrome: a Case Report of the Classic Triad. 61
33344685 2020
18
Photobiomodulation and Miescher's cheilitis granulomatosa: case report. 61
33102396 2020
19
Oral lymphangiectasia and gastrointestinal Crohn disease. 61
32761835 2020
20
The histopathological spectrum of Melkersson-Rosenthal syndrome: Analysis of 47 cases. 61
32578236 2020
21
[Recurrent peripheral facial nerve palsy]. 61
33631910 2020
22
Fatal course of clofazimine-induced pulmonary crystal deposition in a patient with Melkersson-Rosenthal syndrome. 61
32589131 2020
23
A case-control study of HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome. 61
32045706 2020
24
Think Melkersson-Rosenthal Syndrome: A Fissured Tongue With Facial Paralysis. 61
32874808 2020
25
Morbihan disease: a case report and differentiation from Melkersson-Rosenthal syndrome. 61
32815689 2020
26
Orofacial Edema and Facial Paralysis: Melkersson-Rosenthal Syndrome. 61
32015259 2020
27
Panuveitis revealing Melkersson Rosenthal syndrome: a case report. 61
32395783 2020
28
Management Strategies of Melkersson-Rosenthal Syndrome: A Review. 61
32161488 2020
29
Melkersson-Rosenthal syndrome: About a Tunisian family and review of the literature. 61
31445326 2019
30
Melkersson-Rosenthal syndrome with coeliac and allergic diseases. 61
31466978 2019
31
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome. 61
30217753 2019
32
Melkersson-Rosenthal Syndrome: the possible role of comorbidities in the etiopathogenesis. 61
29781258 2019
33
Melkerssonā»Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature. 61
30974872 2019
34
For Whom the Bell's Toll: Recurrent Facial Nerve Paralysis, A Retrospective Study and Systematic Review of the Literature. 61
30870370 2019
35
Facial nerve palsy in children: A retrospective study of 124 cases. 61
30144181 2019
36
A 30-year follow-up study of patients with Melkersson-Rosenthal syndrome shows an association to inflammatory bowel disease. 61
30983435 2019
37
Melkersson-Rosenthal syndrome: a case report of a rare disease with overlapping features. 61
30622569 2019
38
Teaching NeuroImages: Melkersson-Rosenthal syndrome with permanent bilateral facial weakness. 61
30584085 2019
39
Intravenous immunoglobulins in Melkersson-Rosenthal syndrome: A clinical and neuroimaging study. 61
30102792 2018
40
Facial nerve decompression. 61
30138146 2018
41
[Miescher's granulomatous vulvitis]. 61
29884528 2018
42
One of the Faces of Facial Swelling: Melkersson-Rosenthal Syndrome. 61
30073961 2018
43
The Light at the End of the Tunnel: A Case of Dysautonomia Associated With Melkersson-Rosenthal Syndrome 61
30520282 2018
44
Melkersson-Rosenthal syndrome. 61
29088398 2018
45
Melkersson-Rosenthal syndrome successfully treated with adalimumab. 61
29554155 2018
46
Selected presentations of lip enlargement: clinical manifestation and differentiation. 61
29599668 2018
47
Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation. 61
30319683 2018
48
Melkersson-Rosenthal Syndrome: A Rare Cause of Recurrent Facial Nerve Palsy and Acute Respiratory Distress Syndrome. 61
29984016 2018
49
Treatment of orofacial granulomatosis: a case report. 61
29065902 2017
50
[Melkersson-Rosenthal syndrome in a young man]. 61
28606298 2017

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

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

# Super pathways Score Top Affiliating Genes
2 11.04 SLC27A6 SLC27A1
3 10.84 TNF SERPING1
4
Show member pathways
10.84 TNF SLC27A6 SLC27A1

GO Terms for Melkersson-Rosenthal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 long-chain fatty acid metabolic process GO:0001676 9.16 SLC27A6 SLC27A1
2 long-chain fatty acid transport GO:0015909 8.96 SLC27A6 SLC27A1
3 fatty acid transport GO:0015908 8.62 SLC27A6 SLC27A1

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

# Name GO ID Score Top Affiliating Genes
1 long-chain fatty acid-CoA ligase activity GO:0004467 9.26 SLC27A6 SLC27A1
2 long-chain fatty acid transporter activity GO:0005324 9.16 SLC27A6 SLC27A1
3 arachidonate-CoA ligase activity GO:0047676 8.96 SLC27A6 SLC27A1
4 very long-chain fatty acid-CoA ligase activity GO:0031957 8.62 SLC27A6 SLC27A1

Sources for Melkersson-Rosenthal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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