ZINC DEFICIENCY, TRANSIENT NEONATAL

General Information (adopted from Orphanet):

Synonyms, Signs: ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC ZINC IN BREAST MILK, REDUCED, INCLUDED
TNZD
Number of Symptoms 9
OrphanetNr:
OMIM Id: 608118
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002242) Abnormality of the intestine 42 / 7739
2
(HPO:0000964) Eczema 81 / 7739
3
(HPO:0008277) Abnormality of zinc homeostasis 2 / 7739
4
(OMIM) Alopecia, partial 4 / 7739
5
(OMIM) Acrodermatitis enteropathica, transient, seen in breastfed offspring of affected mothers 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Affected mother has normal plasma zinc levels and is not zinc-deficient 1 / 7739
8
(OMIM) Affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk) 1 / 7739
9
(OMIM) Breastfed offspring have transient decrease of plasma zinc levels 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Transient neonatal zinc deficiency occurs in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is ...
Clinical Description OMIM Sharma et al. (1988) showed that the condition in humans predisposing mothers to produce zinc-deficient breast milk is inherited. They described an Indian pedigree in which 10 children in 3 interrelated families were affected with a variant of ...
Molecular genetics OMIM In 2 female relatives, each of whom had an infant with transient neonatal zinc deficiency, Chowanadisai et al. (2006) identified a heterozygous mutation in the SLC30A2 gene (H54R; 609617.0001). In vitro cellular expression studies indicated that the mutant ...