MCID: MLK003
MIFTS: 41

Melkersson-Rosenthal Syndrome

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

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.

MalaCards based summary : Melkersson-Rosenthal Syndrome, also known as melkersson syndrome, is related to orofacial granulomatosis and nguyen syndrome, 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 Insulin resistance and Pertussis. Affiliated tissues include tongue, skin and eye, and related phenotypes are macroglossia and furrowed tongue

NIH Rare Diseases : 53 Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks, 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 95)
# Related Disease Score Top Affiliating Genes
1 orofacial granulomatosis 11.7
2 nguyen syndrome 11.3
3 microphthalmia 11.2
4 spastic paraplegia 2, x-linked 11.0
5 richieri-costa/guion-almeida syndrome 11.0
6 amme complex 11.0
7 stroke, ischemic 10.9
8 mcdonough syndrome 10.9
9 prekallikrein deficiency 10.9
10 rickettsialpox 10.9
11 benjamin syndrome 10.9
12 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.8
13 cutis verticis gyrata and mental retardation 10.8
14 congenital muscular dystrophy with intellectual disability 10.8
15 congenital muscular dystrophy without intellectual disability 10.8
16 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 10.8
17 cheilitis 10.7
18 crohn's disease 10.5
19 vulvitis 10.3
20 thyroiditis 10.3
21 cerebritis 10.2
22 arthritis 10.2
23 lymphoma 10.2
24 ehlers-danlos syndrome 10.2
25 multiple cranial nerve palsy 10.2
26 cranial nerve palsy 10.2
27 headache 10.2
28 osteoporotic fracture 10.2
29 hepatitis 10.0
30 apnea, obstructive sleep 10.0
31 complement component 4, partial deficiency of 10.0
32 multiple sclerosis 10.0
33 hashimoto thyroiditis 10.0
34 obsessive-compulsive disorder 10.0
35 down syndrome 10.0
36 atrophoderma vermiculata 10.0
37 aging 10.0
38 psoriatic arthritis 10.0
39 keratopathy 10.0
40 leukemia 10.0
41 sleep apnea 10.0
42 c1 inhibitor deficiency 10.0
43 tuberculoid leprosy 10.0
44 panuveitis 10.0
45 otosclerosis 10.0
46 bell's palsy 10.0
47 uveitis 10.0
48 facial paralysis 10.0
49 geographic tongue 10.0
50 glossitis 10.0

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 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
2 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
3 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
6 dysautonomia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002459
7 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
8 oligosacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0010471
9 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
10 inflammatory abnormality of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011123
11 periorbital edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100539
12 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
13 edema 59 Very frequent (99-80%)
14 cranial nerve paralysis 59 Very frequent (99-80%)
15 facial edema 32 HP:0000282
16 abnormality of the eye 32 HP:0000478

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:

41
Tongue, Skin, Eye, Thyroid, Testes

Publications for Melkersson-Rosenthal Syndrome

Articles related to Melkersson-Rosenthal Syndrome:

(show top 50) (show all 227)
# 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 Presenting as Isolated Eyelid Edema. ( 28126075 )
2017
5
Melkersson-rosenthal syndrome: a case report. ( 28955585 )
2017
6
[Melkersson-Rosenthal syndrome in a young man]. ( 28606298 )
2017
7
Cheilitis Granulomatosa (Miescher Melkersson Rosenthal Syndrome) ( 29261927 )
2017
8
Melkersson-Rosenthal syndrome. ( 29088398 )
2017
9
Melkersson-Rosenthal Syndrome: A Case Report With a Psychosomatic Perspective. ( 28183073 )
2017
10
Melkersson-Rosenthal Syndrome with Genitalia Involved in a 12-Year-Old Boy. ( 27081272 )
2016
11
Melkersson-Rosenthal Syndrome. ( 27843069 )
2016
12
Successful treatment of Melkersson-Rosenthal syndrome with dapsone: a case report and review of the literature. ( 28329598 )
2016
13
MELKERSSON-ROSENTHAL SYNDROME-A RARE FINDING. ( 27323603 )
2016
14
Recurrent Facial Palsy and Electrophysiological Findings in Oligosymptomatic Melkersson Rosenthal Syndrome. ( 27165478 )
2016
15
Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome. ( 27862329 )
2016
16
Melkersson-Rosenthal syndrome with involvement of masticatory muscles. ( 25562719 )
2015
17
Melkersson-Rosenthal syndrome. ( 26375775 )
2015
18
Melkersson-Rosenthal syndrome as an early manifestation of mixed connective tissue disease. ( 26698837 )
2015
19
CLINICAL CHARACTERISTICS AND TREATMENT OF MELKERSSON-ROSENTHAL SYNDROME--OVERVIEW OF SIX PATIENTS. ( 26939307 )
2015
20
Clinicopathological significance of Melkersson-Rosenthal syndrome. ( 26231188 )
2015
21
Obsessive-compulsive disorder concurrent with Melkersson-Rosenthal Syndrome: a case report. ( 26153455 )
2015
22
Melkersson-Rosenthal Syndrome with Orofacial Swelling and Recurrent Lower Motor Neuron Facial Nerve Palsy: A Case Report and Review of the Literature. ( 26635986 )
2015
23
Recurrent facial palsy in Melkersson Rosenthal syndrome: total facial nerve decompression is effective to prevent further recurrence. ( 25708818 )
2014
24
Tufted hair folliculitis associated with Melkersson-Rosenthal syndrome and hidradenitis suppurativa. ( 25201871 )
2014
25
Melkersson-Rosenthal syndrome. ( 25540530 )
2014
26
Melkersson-Rosenthal syndrome: a retrospective study of 44 patients. ( 24963969 )
2014
27
Facial Palsy in Melkersson-Rosenthal Syndrome and Bell's Palsy: Familial History and Recurrence Tendency. ( 25124841 )
2014
28
Outcomes of Recurrent Facial Palsy in Melkersson Rosenthal Syndrome. ( 25385841 )
2014
29
Melkersson-Rosenthal syndrome: a facial nerve center perspective. ( 24874612 )
2014
30
Melkersson-Rosenthal Syndrome with Isolated Unilateral Eyelid Edema: An Immunopathologic Study. ( 24853119 )
2014
31
Melkersson-rosenthal syndrome with hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder. ( 24656464 )
2014
32
Subtotal facial nerve decompression for recurrent facial palsy in Melkersson Rosenthal syndrome. ( 24512460 )
2014
33
An extraordinary form of the Melkersson-Rosenthal syndrome successfully treated with the tumour necrosis factor-I+ blocker adalimumab. ( 24827666 )
2014
34
Periocular Intralymphatic Histiocytosis Or Localized Melkersson-Rosenthal Syndrome? ( 25370527 )
2014
35
Melkersson-Rosenthal syndrome in a patient with psoriatic arthritis receiving etanercept. ( 23527726 )
2013
36
The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases. ( 22836908 )
2013
37
Melkersson-Rosenthal syndrome: a review of seven patients. ( 23664134 )
2013
38
Isolated eyelid edema in Melkersson-Rosenthal syndrome: a case series. ( 22056858 )
2012
39
Re 'Isolated eyelid edema in Melkersson-Rosenthal syndrome: a case series'. ( 22422032 )
2012
40
Successful treatment of Miescher's cheilitis in Melkersson-Rosenthal syndrome with betamethasone injections and doxycycline. ( 23397029 )
2012
41
Melkersson-Rosenthal syndrome: a possible association with psoriasis. ( 22980256 )
2012
42
Granulomatous cheilitis of Miescher: the diagnostic proof for a Melkersson-Rosenthal syndrome. ( 23188453 )
2012
43
Vulvitis granulomatosa, Melkersson-Rosenthal syndrome, and Crohn's disease: dramatic response to infliximab therapy. ( 22788815 )
2012
44
Compression therapy: an adjuvant treatment for orofacial granulomatosis in Melkersson-Rosenthal syndrome? ( 21873143 )
2011
45
Melkersson-Rosenthal syndrome presenting with isolated bilateral eyelid swelling: a clinicopathologic correlation. ( 21784219 )
2011
46
Melkersson Rosenthal syndrome: a histopathologic mystery and dermatologic challenge. ( 19843194 )
2011
47
Melkersson-Rosenthal syndrome: an unusual cause of intermittent raised hemidiaphragm? ( 21310435 )
2011
48
Intralymphatic granulomas as a pathogenic factor in cheilitis granulomatosa/Melkersson-Rosenthal syndrome: report of a case with immunohistochemical and molecular studies. ( 21317610 )
2011
49
Obstructive sleep apnea in a patient with the Melkersson-Rosenthal syndrome. ( 19862566 )
2010
50
Marathon of eponyms: 13 Melkersson-Rosenthal syndrome. ( 20846157 )
2010

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
Show member pathways
10.99 SLC27A1 TNF
2 10.5 SERPING1 TNF

GO Terms for Melkersson-Rosenthal Syndrome

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
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