Melkersson-Rosenthal syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MELKERSSON SYNDROME MROS MRS |
| Number of Symptoms | 22 |
| OrphanetNr: | 2483 |
| OMIM Id: |
155900
|
| ICD-10: |
G51.2 |
| UMLs: |
C0025235 |
| MeSH: |
D008556 |
| MedDRA: |
10027166 |
| Snomed: |
215617000 37770007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare urticaria
-Rare allergic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0000298) | Mask-like facies | Very frequent [Orphanet] | 44 / 7739 | |||
|
|
(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 | |||
|
|
(HPO:0000282) | Facial edema | 5 / 7739 | ||||
|
|
(HPO:0000221) | Furrowed tongue | Frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0010628) | Facial palsy | Frequent [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0100825) | Cheilitis | Very frequent [Orphanet] | 20 / 7739 | |||
|
|
(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0000158) | Macroglossia | Frequent [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000478) | Abnormality of the eye | 126 / 7739 | ||||
|
|
(HPO:0006824) | Cranial nerve paralysis | Very frequent [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0002270) | Abnormality of the autonomic nervous system | Occasional [Orphanet] | 22 / 7739 | |||
|
|
(HPO:0011123) | Inflammatory abnormality of the skin | Very frequent [Orphanet] | 10 / 7739 | |||
|
|
(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
|
|
(HPO:0000969) | Edema | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
|
|
(OMIM) | Granulomatous lymphangitis on eyelid biopsy | 1 / 7739 | ||||
|
|
(OMIM) | Periorbital heterogeneous thickening on CT scan | 1 / 7739 | ||||
|
|
(OMIM) | Insidious, painless, nonpitting eyelid edema | 1 / 7739 | ||||
|
|
(OMIM) | Recurrent peripheral facial palsy | 1 / 7739 | ||||
|
|
(MedDRA:10024570) | Lip swelling | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|