Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys

General Information (adopted from Orphanet):

Synonyms, Signs: NDH syndrome
Number of Symptoms 8
OrphanetNr: 79118
OMIM Id: 610199
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease

Comment:

Caused by a homozygous frameshift mutation, 2067insC, in the GLIS3 gene predicted to lead to a frameshift and a truncated protein (625FS703STOP), altering the C-terminal proline-rich domain (PMID:16715098).

Symptom Information: Sort by abundance 

1
(HPO:0000107) Renal cyst 12966531 IBIS 126 / 7739
2
(HPO:0001087) Congenital glaucoma 12966531 IBIS 12 / 7739
3
(HPO:0000851) Congenital hypothyroidism 12966531 IBIS 16 / 7739
4
(HPO:0005978) Type II diabetes mellitus 12966531 IBIS 68 / 7739
5
(HPO:0001395) Hepatic fibrosis 12966531 IBIS 67 / 7739
6
(HPO:0002611) Cholestatic liver disease 19 / 7739
7
(HPO:0001396) Cholestasis 12966531 IBIS 136 / 7739
8
(HPO:0001511) Intrauterine growth retardation 12966531 IBIS 358 / 7739

Associated genes:

GLIS3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Taha et al. (2003) described a consanguineous Saudi Arabian family in which 2 of 4 sibs had a syndrome of minor facial anomalies, proportionate intrauterine growth retardation, neonatal nonimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and ...
Molecular genetics OMIM Senee et al. (2006) described mutations in the GLIS3 gene (see 610192.0001) in the original NDH family described by Taha et al. (2003) and also in a second Saudi Arabian family and a French family.