ORPHA:171851
MEDNIK syndrome
Synonyms: Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MEDNIK syndrome | Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome |
| fr | Syndrome MEDNIK | Syndrome de déficience intellectuelle-entéropathie-surdité-neuropathie périphérique-ichtyose-kératodermie |
| de | MEDNIK-Syndrom | Intelligenzminderung-Enteropathie-Schwerhörigkeit-periphere Neuropathie-Ichthyose-Keratodermie-Syndrom |
| es | Síndrome MEDNIK | Síndrome de discapacidad intelectual-enteropatía-hipoacusia-neuropatía periférica-ictiosis-queratodermia · Síndrome de discapacidad intelectual-enteropatía-sordera-neuropatía periférica-ictiosis-queratodermia |
| it | Sindrome MEDNIK | Deficit cognitivo - enteropatia - sordità - neuropatia periferica - ittiosi - cheratoderma · Sindrome deficit cognitivo-enteropatia-sordità-neuropatia periferica-ittiosi-cheratoderma |
| nl | MEDNIK-syndroom | Intellectuele achterstand - enteropathie - doofheid - perifere neuropathie - ichthyosis - keratodermie-syndroom · Intellectuele achterstand - enteropathie - gehoorverlies - perifere neuropathie - ichthyosis - keratodermie-syndroom |
| pt | Síndrome MEDNIK | Síndrome de perturbação do desenvolvimento intelectual-enteropatia-perda auditiva-neuropatia periférica-ictiose-queratodermia · Síndrome de perturbação do desenvolvimento intelectual-enteropatia-surdez-neuropatia periférica-ictiose-queratodermia |
| pl | Zespół MEDNIK | Erytrokeratodermia zmiennopostaciowa 3 · Erytrokeratodermia zmiennopostaciowa, typ Kamouraska · Niepełnosprawność intelektualna - enteropatia - głuchota - neuropatia obwodowa - rybia łuska - keratodermia |
| cs | Syndrom MEDNIK | Erythrokeratodermia variabilis 3 · Erythrokeratodermia variabilis, kamouraský typ · Syndrom zahrnující mentální retardaci, enteropatii, hluchotu, periferní neuropatii, ichtyózu a keratodermii |
| uk | Синдром MEDNIK | Інтелектуальна недостатність-ентеропатія-глухота-периферична нейропатія-іхтіоз-кератодермія · Синдром інтелектуальної недостатності - ентеропатії - втрати слуху - периферичної нейропатії - іхтіозу - кератодермії |
| zh | MEDNIK综合征 | 智力障碍-肠病-听力损失-外周神经病-鱼鳞病-皮肤角化病综合征 |
| tr | MEDNIK sendromu | Zihinsel yetersizlik-enteropati-sağırlık-periferik nöropati-iktiyoz-keratodermi sendromu · Zihinsel yetersizlik-enteropati-işitme kaybı-periferik nöropati-iktiyoz-keratodermi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609313 | E | validated | |
| ICD-10 | E83.0 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0012251 | E | validated | |
| UMLS | C1836330 | 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 (7):
- ORPHA:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin diseases - ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79355Erythrokeratoderma
rare skin diseases - ORPHA:183438Genetic erythrokeratoderma
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP1B1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:554 | ENSG00000100280 | 600157 | 22q12.2 | adaptor related protein complex 1 subunit beta 1 | 31630791[PMID] |
| AP1S1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:559 | ENSG00000106367 | 603531 | 7q22.1 | adaptor related protein complex 1 subunit sigma 1 | 19057675[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 23423674[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23423674[PMID] |
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
8 annotations · validated 2016-11-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002242 | Abnormal intestine morphology | Diagnostic criterion |
| HP:0000962 | Hyperkeratosis | Diagnostic criterion |
| HP:0008064 | Ichthyosis | Diagnostic criterion |
| HP:0001249 | Intellectual disability | Diagnostic criterion |
| HP:0009830 | Peripheral neuropathy | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0010837 | Decreased circulating ceruloplasmin concentration | |
| HP:0011967 | Decreased circulating copper concentration | |
| HP:0001406 | Intrahepatic cholestasis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 23423674[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171851
- This record as JSON: /data/d/171851.json