HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 601979
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000939) Osteoporosis 129 / 7739
2
 (HPO:0002240) Hepatomegaly 467 / 7739
3
 (HPO:0002014) Diarrhea 225 / 7739
4
 (HPO:0000988) Skin rash 98 / 7739
5
 (HPO:0002633) Vasculitis 12 / 7739
6
 (HPO:0008277) Abnormality of zinc homeostasis 2 / 7739
7
 (HPO:0011424) Increased serum zinc 1 / 7739
8
 (HPO:0002721) Immunodeficiency 97 / 7739
9
 (OMIM) No abnormal liver histology 1 / 7739
10
 (OMIM) Increased liver immunoreactive metallothionein 1 / 7739
11
 (OMIM) Severe growth failure 1 / 7739
12
 (MedDRA:10048259) Zinc deficiency 1 / 7739
13
 (OMIM) Raises liver and muscle Zn and Cu concentrations 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: