ORPHA:37
Acrodermatitis enteropathica
Synonyms: AEZ · Acrodermatitis enteropathica, zinc deficiency type · Inherited zinc deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrodermatitis enteropathica | AEZ · Acrodermatitis enteropathica, zinc deficiency type · Inherited zinc deficiency |
| fr | Acrodermatite entéropathique | AEZ · Déficit héréditaire en zinc |
| de | Acrodermatitis enteropathica | AEZ · Acrodermatitis enteropathica, Zink-Mangel Typ · Zink-Mangel, hereditärer · Zinkmangel-Syndrom, hereditäres |
| es | Acrodermatitis enteropática | AEZ · Acrodermatitis enteropática tipo deficiencia de cinc · Acrodermatitis enteropática tipo deficiencia de zinc · Deficiencia de cinc hereditaria · Deficiencia de zinc hereditaria |
| it | Acrodermatite enteropatica | AE · AEZ · Deficit ereditario dello zinco |
| nl | Acrodermatitis enteropathica | AEZ · Acrodermatitis enteropathica, zinkdeficiëntie-type · Congenitale zinkdeficiëntie · Overgeërfde zinkdeficiëntie |
| pt | Acrodermatite enteropática | Acrodermatite enteropática por deficiência de zinco |
| pl | Acrodermatitis enteropathica | AEZ · Wrodzony niedobór cynku · Niedobór dziedziczny cynku · Acrodermatitis enteropathica, typ niedoboru cynku |
| cs | Akrodermatitis enteropathica | AE · AEZ · Vrozený deficit zinku |
| uk | Ентеропатичний акродерматит | Ентеропатичний акродерматит, цинкодефіцитний тип · AEZ · Спадковий дефіцит цинку |
| zh | 肠病性肢端皮炎 | 肠病性肢端皮炎，缺锌型 |
| tr | Akrodermatit enteropati | AEZ · Kalıtsal çinko eksikliği · Akrodermatitis enteropatika, çinko eksikliği tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201100 | E | validated | |
| ICD-10 | E83.2 | NTBT | inclusion | validated |
| ICD-11 | 5C64.20 | E | specific | validated |
| MONDO | 0008713 | E | validated | |
| MeSH | C538178 | E | validated | |
| UMLS | C0221036 | E | validated | |
| GARD | 5723 | E | validated | |
| MedDRA | 10000596 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:309845Disorder of zinc metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:363306Genetic intestinal disease due to fat malabsorption
rare genetic diseases - ORPHA:104005Intestinal disease due to fat malabsorption
rare gastroenterological diseases - ORPHA:79387Metabolic disease with skin involvement
rare genetic diseases - ORPHA:79217Other metabolic disease with skin involvement
rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC39A4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17129 | ENSG00000147804 | 607059 | 8q24.3 | solute carrier family 39 member 4 | 22166942[PMID]_22082465[PMID]_12787121[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Denmark | Value and class | Validated | 17190629[PMID]_8562288[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only | Not yet validated | 17190629[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001596 | Alopecia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000958 | Dry skin | |
| HP:0010783 | Erythema | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0002024 | Malabsorption | |
| HP:0200039 | Pustule | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0000498 | Blepharitis | |
| HP:0100825 | Cheilitis | |
| HP:0000509 | Conjunctivitis | |
| HP:0000712 | Emotional lability | |
| HP:0001508 | Failure to thrive | |
| HP:0000221 | Furrowed tongue | |
| HP:0000206 | Glossitis | |
| HP:0001818 | Paronychia | |
| HP:0000613 | Photophobia | |
| HP:0008402 | Ridged fingernail | |
| HP:0001807 | Ridged nail | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0002039 | Anorexia | |
| HP:0200020 | Corneal erosion | |
| HP:0004396 | Poor appetite | |
| HP:0000505 | Visual impairment | |
| HP:0001824 | Weight loss | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/37
- This record as JSON: /data/d/37.json