MCID: DBT022
MIFTS: 28

Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

MalaCards integrated aliases for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

Name: Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 53 71 28 13 69
Ndh Syndrome 53 12 71
Ndh 53 71
Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome 55
Neonatal Diabetes Mellitus with Congenital Hypothyroidism 12

Characteristics:

Orphanet epidemiological data:

55
neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
diabetes mellitus, neonatal, with congenital hypothyroidism:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare renal diseases


Summaries for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

OMIM : 53 Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015). (610199)

MalaCards based summary : Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism, also known as ndh syndrome, is related to blood group, i system and werner syndrome, and has symptoms including low-set ears, diabetes mellitus and osteopenia. An important gene associated with Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism is GLIS3 (GLIS Family Zinc Finger 3). Affiliated tissues include kidney and thyroid.

UniProtKB/Swiss-Prot : 71 Diabetes mellitus, neonatal, with congenital hypothyroidism: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.

Disease Ontology : 12 A neonatal diabetes mellitus characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life; it has material basis in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24.

Related Diseases for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Diseases related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blood group, i system 9.9
2 werner syndrome 9.9
3 mycobacterium tuberculosis 1 9.9

Symptoms & Phenotypes for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
sensorineural deafness, bilateral (in some patients)

Head And Neck Face:
long philtrum

Neurologic Central Nervous System:
developmental delay

Head And Neck Mouth:
thin upper lip

Genitourinary Kidneys:
polycystic kidneys

Cardiovascular Heart:
atrial septal defect, ostium secundum (rare)

Growth Other:
intrauterine growth retardation (iugr)

Cardiovascular Vascular:
portal hypertension (rare)

Abdomen Gastroin testinal:
hiatal hernia (rare)

Skeletal Skull:
large anterior fontanel (rare)
sagittal craniosynostosis (rare)

Immunology:
susceptibility to infection (in some patients)

Abdomen Liver:
hepatomegaly
portal hypertension
hepatic fibrosis
cholestasis
neonatal hepatitis

Endocrine Features:
congenital hypothyroidism
neonatal diabetes
hypoplastic or absent thyroid gland (in some patients)

Head And Neck Eyes:
epicanthal folds
hazy corneas, bilateral (rare)
enlarged corneas, bilateral (rare)
congenital glaucoma (in some patients)
buphthalmos (rare)

Head And Neck Nose:
flat nasal bridge
choanal atresia (rare)

Abdomen External Features:
umbilical hernia (rare)

Chest RibsSternum Clavicles And Scapulae:
gracile ribs
rib fractures, left-sided
prominent sixth and seventh ribs, unilateral

Abdomen Spleen:
splenomegaly (rare)
splenic cyst (rare)

Abdomen Pancreas:
neonatal diabetes
pancreatic hypoplasia (rare)
exocrine pancreatic dysfunction (rare)
pancreatic cysts (rare)

Skeletal:
osteopenia (rare)
delayed mineralization (rare)

Skeletal Spine:
thoracolumbar scoliosis (rare)


Clinical features from OMIM:

610199

Human phenotypes related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 diabetes mellitus 31 HP:0000819
3 osteopenia 31 occasional (7.5%) HP:0000938
4 global developmental delay 31 HP:0001263
5 splenomegaly 31 occasional (7.5%) HP:0001744
6 hepatomegaly 31 HP:0002240
7 depressed nasal bridge 31 HP:0005280
8 umbilical hernia 31 occasional (7.5%) HP:0001537
9 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
10 portal hypertension 31 occasional (7.5%) HP:0001409
11 long philtrum 31 HP:0000343
12 epicanthus 31 HP:0000286
13 intrauterine growth retardation 31 HP:0001511
14 hepatic fibrosis 31 HP:0001395
15 polycystic kidney dysplasia 31 HP:0000113
16 pancreatic cysts 31 occasional (7.5%) HP:0001737
17 choanal atresia 31 occasional (7.5%) HP:0000453
18 recurrent infections 31 occasional (7.5%) HP:0002719
19 cholestasis 31 HP:0001396
20 thin upper lip vermilion 31 HP:0000219
21 buphthalmos 31 occasional (7.5%) HP:0000557
22 wide anterior fontanel 31 occasional (7.5%) HP:0000260
23 hiatus hernia 31 occasional (7.5%) HP:0002036
24 renal cyst 31 HP:0000107
25 congenital glaucoma 31 HP:0001087
26 congenital hypothyroidism 31 HP:0000851
27 pancreatic hypoplasia 31 occasional (7.5%) HP:0002594
28 sagittal craniosynostosis 31 occasional (7.5%) HP:0004442
29 thoracolumbar scoliosis 31 occasional (7.5%) HP:0002944
30 splenic cyst 31 occasional (7.5%) HP:0030423

Drugs & Therapeutics for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Genetic Tests for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Genetic tests related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28 GLIS3

Anatomical Context for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

MalaCards organs/tissues related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

38
Kidney, Thyroid

Publications for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Articles related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

# Title Authors Year
1
Characterization of ndh gene of isoniazid resistant and susceptible Mycobacterium tuberculosis isolates from Brazil. ( 17294000 )
2007
2
Werner syndrome helicase (WRN), nuclear DNA helicase II (NDH II) and histone gammaH2AX are localized to the centrosome. ( 17498979 )
2007
3
Regulatory loop between redox sensing of the NADH/NAD(+) ratio by Rex (YdiH) and oxidation of NADH by NADH dehydrogenase Ndh in Bacillus subtilis. ( 17015645 )
2006
4
Evidence for an association of ndh B, ndh J gene products and ferredoxin-NADP-reductase as components of a chloroplastic NAD(P)H dehydrogenase complex. ( 8557117 )
1996

Variations for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

ClinVar genetic disease variations for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLIS3 NM_001042413.1(GLIS3): c.2338dupC (p.Arg780Profs) duplication Pathogenic rs869320723 GRCh37 Chromosome 9, 3856144: 3856144
2 GLIS3 NM_001042413.1(GLIS3): c.1608C> G (p.Cys536Trp) single nucleotide variant Pathogenic rs879255608 GRCh37 Chromosome 9, 4117870: 4117870
3 GLIS3 NM_001042413.1(GLIS3): c.1681C> T (p.His561Tyr) single nucleotide variant Pathogenic rs868197660 GRCh37 Chromosome 9, 4117797: 4117797
4 GLIS3 NM_001042413.1(GLIS3): c.932delG (p.Gly311Alafs) deletion Pathogenic rs879255609 GRCh38 Chromosome 9, 4118546: 4118546

Expression for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Search GEO for disease gene expression data for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism.

Pathways for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

GO Terms for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Sources for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....