Severe dermatitis-multiple allergies-metabolic wasting syndrome
Synonyms: Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe dermatitis-multiple allergies-metabolic wasting syndrome | Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome |
| fr | Syndrome de dermatite sévère-allergies multiples-cachexie métabolique | Syndrome SAM · Syndrome d'érythrodermie congénitale-hypotrichose-infections récurrentes-allergies alimentaires multiples |
| de | Schwere Dermatitis-multiple Allergien-metabolischer Verlust-Syndrom | SAM-Syndrom |
| es | Síndrome de dermatitis grave-alergias múltiples-desgaste metabólico | Síndrome SAM |
| it | Sindrome dermatite grave-allergie multiple-cachessia | Sindrome SAM |
| nl | Ernstige dermatitis - meervoudige allergieën - metabole aftakeling-syndroom | Congenitale erytrodermie - hypotrichose - recidiverende infecties - meerdere voedselallergieën-syndroom · SAM-syndroom |
| pt | Síndrome de dermatite grave alergias múltiplas degradação metabólica | |
| pl | Zespół ciężkie zapalenie skóry-mnogie alergie-wyniszczenie metaboliczne | Zespół SAM |
| cs | Syndrom zahrnující těžkou dermatitidu, mnohočetné alergie a metabolickou kachexii | SAM syndrom · Syndrom zahrnující vrozenou erytrodermii, hypotrichózu, opakující se infekce a mnohočetné potravinové alergie |
| uk | Синдром тяжкого дерматиту-множинної алергії-метаболічного виснаження | Синдром вродженої еритродермії - гіпотрихозу - рецидивуючих інфекцій - множинної харчової алергії · SAM-синдром |
| zh | 严重皮炎-多发性过敏-代谢衰竭综合征 | SAM综合征 |
| tr | Ağır dermatit-çoklu alerji-metabolik kayıp sendromu | SAM sendromu · Doğumsal eritrodermi-hipotrikoz-tekrarlayan infeksiyonlar-çoklu gıda alerjileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615508 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | attributed | validated |
| MONDO | 0014218 | E | validated | |
| UMLS | C3809719 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:98050Rare allergic disease
rare allergic disease
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSG1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3048 | ENSG00000134760 | 125670 | 18q12.1 | desmoglein 1 | 23974871[PMID] |
| DSP | Disease-causing germline mutation(s) in | Assessed | HGNC:3052 | ENSG00000096696 | 125647 | 6p24.3 | desmoplakin | 26073755[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23974871[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369992
- This record as JSON: /data/d/369992.json