Mednik syndrome

Preferred Label : Mednik syndrome;

Symbol : MEDNIK;

CISMeF acronym : MEDNIK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EKV3; Erythrokeratodermia variabilis, kamouraska type; Erythrokeratodermia variabilis 3; Impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 1, sigma-1 subunit gene (AP1S1, 603531.0001);

Laboratory abnormalities : Increased very-long chain fatty acids;

Prefixed ID : #609313;

Details

Origin ID

609313;

UMLS CUI

C1836330;

Currated CISMeF NLP mapping
- Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) [SNOMED CT concept]
- MEDNIK syndrome [DO Concept]
- MEDNIK syndrome [ORDO Disease]
- erythrokeratodermia variabilis 3 [MeSH Supplementary Concept]
- erythrokeratodermia variabilis 3 [MeSH concept]
DO Cross reference
- MEDNIK syndrome [DO Concept]
Genes related to phenotype
- Adaptor-related protein complex 1, sigma-1 subunit [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Congenital onset [HPO term]
- Diarrhea [HPO term]
- Erythema [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hepatic fibrosis [HPO term]
- High forehead [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Peripheral neuropathy [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- MEDNIK syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) [SNOMED CT concept]
- MEDNIK syndrome [ORDO Disease]
- MEDNIK syndrome [DO Concept]
- erythrokeratodermia variabilis 3 [MeSH Supplementary Concept]
- erythrokeratodermia variabilis 3 [MeSH concept]

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