Acrodermatitis enteropathica, zinc-deficiency type

Preferred Label : Acrodermatitis enteropathica, zinc-deficiency type;

Symbol : AEZ;

CISMeF acronym : AEZ;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the intestinal zinc-specific transporter gene (SLC39A4, 607059.0001);

Laboratory abnormalities : Decreased plasma zinc levels; Decreased serum alkaline phosphatase; Decreased mucosal alkaline phosphatase;

Prefixed ID : #201100;

Details

Origin ID

201100;

UMLS CUI

C0221036;

Automatic exact mappings (from CISMeF team)
- SLC39A4 wt Allele [NCIt concept]
- symbol withdrawn AEZ [HGNC gene]
Currated CISMeF NLP mapping
- Acrodermatitis Enteropathica [NCIt concept]
- Acrodermatitis enteropathica [ICD-11 Sub-sub category]
- Acrodermatitis enteropathica [MedDRA Preferred Term]
- Acrodermatitis enteropathica [MeSH concept]
- Acrodermatitis enteropathica [ORDO Disease]
- Disorders of zinc metabolism [ICD-10 Sub-category]
- Enteropathic acrodermatitis [MedDRA LLT]
- Hereditary acrodermatitis enteropathica (disorder) [SNOMED CT concept]
- acrodermatitis enteropathica [Disease (Nov.)]
- acrodermatitis enteropathica [MeSH Supplementary Concept]
- acrodermatitis enteropathica [DO Concept]
- hereditary acrodermatitis enteropathica [SNOMED Notion]
DO Cross reference
- acrodermatitis enteropathica [DO Concept]
Genes related to phenotype
- Solute carrier family 39 (zinc transporter), member 4 [OMIM gene]
HPO term(s)
- Alopecia of scalp [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Decreased serum zinc [HPO term]
- Decreased testicular size [HPO term]
- Diarrhea [HPO term]
- Dry skin [HPO term]
- Emotional lability [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Histological abnormality of the skin [HPO term]
- Hypogeusia [HPO term]
- Hypogonadism [HPO term]
- Impaired T cell function [HPO term]
- Infantile onset [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Low alkaline phosphatase [HPO term]
- Paronychia [HPO term]
- Perianal erythema [HPO term]
- Perioral erythema [HPO term]
- Poor appetite [HPO term]
- Recurrent candida infections [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Tremor [HPO term]
- obsolete Decreased testosterone in males [HPO term]
ORDO concept(s)
- Acrodermatitis enteropathica [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrodermatitis Enteropathica [NCIt concept]
- Acrodermatitis enteropathica [MedDRA Preferred Term]
- Acrodermatitis enteropathica [MeSH concept]
- Acrodermatitis enteropathica [ORDO Disease]
- Enteropathic acrodermatitis [MedDRA LLT]
- Hereditary acrodermatitis enteropathica (disorder) [SNOMED CT concept]
- acrodermatitis enteropathica [MeSH Supplementary Concept]
- acrodermatitis enteropathica [DO Concept]
- acrodermatitis enteropathica [Disease (Nov.)]
- hereditary acrodermatitis enteropathica [SNOMED Notion]
Validated automatic mappings to NTBT
- Disorders of zinc metabolism [ICD-11 Subcategory]

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