MRS
MCID: MLK003
MIFTS: 45

Melkersson-Rosenthal Syndrome (MRS)

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

Aliases & Classifications for Melkersson-Rosenthal Syndrome

MalaCards integrated aliases for Melkersson-Rosenthal Syndrome:

Name: Melkersson-Rosenthal Syndrome 56 12 74 52 53 58 13 43 15 17 71
Melkersson Syndrome 56 52 32
Mros 56 52
Mrs 56 52
Cheilitis Granulomatosa of Mescher-Melkersson-Rosenthal 12
Cheilitis Granulomatosa 52
Granulomatous Cheilitis 71
Melkersson's Syndrome 12
Mros; Mrs 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 155900
MeSH 43 D008556
NCIt 49 C84886
SNOMED-CT 67 37770007
ICD10 32 G51.2
MESH via Orphanet 44 D008556
ICD10 via Orphanet 33 G51.2
UMLS via Orphanet 72 C0025235
Orphanet 58 ORPHA2483
MedGen 41 C0025235
UMLS 71 C0025235 C0600268

Summaries for Melkersson-Rosenthal Syndrome

NIH Rare Diseases : 52 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 fissured tongue 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 Pertussis and Insulin resistance. Affiliated tissues include tongue, skin and eye, and related phenotypes are cheilitis and mask-like facies

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 : 74 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 3046)
# Related Disease Score Top Affiliating Genes
1 fissured tongue 31.7 SERPING1 BRD9
2 stroke, ischemic 31.5 TNF MROS ACE
3 iridocyclitis 30.6 TNF ACE
4 retinal vasculitis 30.6 TNF ACE
5 panuveitis 30.5 TNF ACE
6 sleep disorder 30.4 TNF ACE
7 carotid stenosis 30.4 TNF ACE
8 choroiditis 30.4 TNF ACE
9 c1 inhibitor deficiency 30.3 SERPING1 ACE
10 hereditary angioedema 30.2 SERPING1 ACE
11 purpura 30.1 TNF ACE
12 pericarditis 30.0 TNF ACE
13 viral encephalitis 29.9 UNC93B1 TNF
14 acute kidney tubular necrosis 29.8 TNF ACE
15 neurosarcoidosis 29.7 TNF ACE
16 syphilis 29.7 TNF ACE
17 pyelonephritis 29.7 TNF ACE
18 cardiac sarcoidosis 29.7 TNF ACE
19 acute myocarditis 29.7 TNF ACE
20 urinary tract obstruction 29.6 TNF ACE
21 limb ischemia 29.6 TNF ACE
22 acute cystitis 29.6 TNF ACE
23 apnea, obstructive sleep 29.4 TNF ACE
24 exanthem 29.4 TNF ACE
25 chorioretinitis 29.2 TNF ACE
26 rheumatic fever 29.1 TNF ACE
27 posterior scleritis 29.0 TNF ACE
28 peripheral artery disease 28.9 TNF ACE
29 facial nerve disease 28.9 TNF ACE
30 rheumatic heart disease 28.8 TNF ACE
31 systolic heart failure 28.8 TNF ACE
32 nephrosclerosis 28.8 TNF ACE
33 silicosis 28.7 TNF ACE
34 dilated cardiomyopathy 28.3 TNF SLC27A6 SLC27A1 ACE
35 orofacial granulomatosis 12.0
36 amme complex 11.8
37 nguyen syndrome 11.6
38 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 11.5
39 moyamoya disease 1 11.5
40 hypopituitarism 11.5
41 orthostatic intolerance 11.4
42 cutis verticis gyrata and mental retardation 11.3
43 richieri-costa/guion-almeida syndrome 11.3
44 spastic paraplegia 2, x-linked 11.3
45 autosomal dominant non-syndromic intellectual disability 11.3
46 autosomal recessive non-syndromic intellectual disability 11.3
47 facial paralysis 11.2
48 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.2
49 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 11.2
50 congenital muscular dystrophy with intellectual disability 11.2

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



Diseases related to Melkersson-Rosenthal Syndrome

Symptoms & Phenotypes for Melkersson-Rosenthal Syndrome

Human phenotypes related to Melkersson-Rosenthal Syndrome:

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

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Melkersson-Rosenthal Syndrome:


oral manifestations, lip swelling

Drugs & Therapeutics for Melkersson-Rosenthal Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes of Sleep Disorders in Older Men Completed NCT00070681

Search 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, Skin, Eye, Thyroid, Testes, T Cells

Publications for Melkersson-Rosenthal Syndrome

Articles related to Melkersson-Rosenthal Syndrome:

(show top 50) (show all 598)
# Title Authors PMID Year
1
A case of Melkersson-Rosenthal syndrome associated with Ehlers-Danlos syndrome. 56 61
12150220 2002
2
Melkersson-Rosenthal syndrome: new clinicopathologic findings in 4 cases. 56 61
10676788 2000
3
Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation. 56 61
7923865 1994
4
Is the Melkersson-Rosenthal syndrome hereditary? 61 56
5862634 1966
5
A Systematic Review of the Literature of the Three Related Disease Entities Cheilitis Granulomatosa, Orofacial Granulomatosis and Melkersson - Rosenthal Syndrome. 61 52
29766816 2018
6
Melkersson-Rosenthal's syndrome in four generations. 56
761419 1979
7
Melkersson's syndrome. A case report of multiple recurrences of Bell's palsy and episodic facial edema. 56
5846695 1965
8
A case-control study of HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome. 61
32045706 2020
9
The histopathological spectrum of Melkersson-Rosenthal syndrome: analysis of 47 cases. 61
32578236 2020
10
Orofacial Edema and Facial Paralysis: Melkersson-Rosenthal Syndrome. 61
32015259 2020
11
Panuveitis revealing Melkersson Rosenthal syndrome: a case report. 61
32395783 2020
12
Management Strategies of Melkersson-Rosenthal Syndrome: A Review. 61
32161488 2020
13
Melkersson-Rosenthal syndrome: About a Tunisian family and review of the literature. 61
31445326 2019
14
Melkersson-Rosenthal syndrome with coeliac and allergic diseases. 61
31466978 2019
15
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome. 61
30217753 2019
16
Melkersson-Rosenthal Syndrome: the possible role of comorbidities in the etiopathogenesis. 61
29781258 2019
17
Melkerssonā»Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature. 61
30974872 2019
18
For Whom the Bell's Toll: Recurrent Facial Nerve Paralysis, A Retrospective Study and Systematic Review of the Literature. 61
30870370 2019
19
Facial nerve palsy in children: A retrospective study of 124 cases. 61
30144181 2019
20
A 30-year follow-up study of patients with Melkersson-Rosenthal syndrome shows an association to inflammatory bowel disease. 61
30983435 2019
21
Melkersson-Rosenthal syndrome: a case report of a rare disease with overlapping features. 61
30622569 2019
22
Teaching NeuroImages: Melkersson-Rosenthal syndrome with permanent bilateral facial weakness. 61
30584085 2019
23
Intravenous immunoglobulins in Melkersson-Rosenthal syndrome: A clinical and neuroimaging study. 61
30102792 2018
24
Facial nerve decompression. 61
30138146 2018
25
[Miescher's granulomatous vulvitis]. 61
29884528 2018
26
One of the Faces of Facial Swelling: Melkersson-Rosenthal Syndrome. 61
30073961 2018
27
The Light at the End of the Tunnel: A Case of Dysautonomia Associated With Melkersson-Rosenthal Syndrome 61
30520282 2018
28
Melkersson-Rosenthal syndrome. 61
29088398 2018
29
Melkersson-Rosenthal syndrome successfully treated with adalimumab. 61
29554155 2018
30
Selected presentations of lip enlargement: clinical manifestation and differentiation. 61
29599668 2018
31
Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation. 61
30319683 2018
32
Melkersson-Rosenthal Syndrome: A Rare Cause of Recurrent Facial Nerve Palsy and Acute Respiratory Distress Syndrome. 61
29984016 2018
33
Treatment of orofacial granulomatosis: a case report. 61
29065902 2017
34
[Melkersson-Rosenthal syndrome in a young man]. 61
28606298 2017
35
Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome. 61
27862329 2017
36
Granulomatous & histiocytic dermatitides. 61
28094163 2017
37
Melkersson-Rosenthal Syndrome. 61
27843069 2017
38
Melkersson-Rosenthal Syndrome Presenting as Isolated Eyelid Edema. 61
28126075 2017
39
Melkersson-Rosenthal Syndrome: A Case Report With a Psychosomatic Perspective. 61
28183073 2017
40
Melkersson-rosenthal syndrome: a case report. 61
28955585 2017
41
Bilateral Facial Paralysis: A 13-Year Experience. 61
27307336 2016
42
Successful treatment of Melkersson-Rosenthal syndrome with dapsone: a case report and review of the literature. 61
28329598 2016
43
Recurrent Facial Palsy and Electrophysiological Findings in Oligosymptomatic Melkersson Rosenthal Syndrome. 61
27165478 2016
44
[Melkersson Rosenthal syndrome. Report of two pediatric cases]. 61
27399021 2016
45
Melkersson-Rosenthal syndrome. 61
26375775 2016
46
Orofacial granulomatosis. 61
27343966 2016
47
Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy. 61
27081272 2016
48
Melkersson-Rosenthal syndrome - delay in the diagnosis of an early-onset oligosymptomatic variant. 61
32258547 2016
49
[A patient with Melkersson-Rosenthal syndrome]. 61
27781965 2016
50
MELKERSSON-ROSENTHAL SYNDROME-A RARE FINDING. 61
27323603 2016

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
1 10.84 TNF SERPING1
2
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 transporter activity GO:0005324 9.26 SLC27A6 SLC27A1
2 long-chain fatty acid-CoA ligase activity GO:0004467 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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