MCID: DBT022
MIFTS: 25

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 54 24 71 29 13 69
Ndh Syndrome 12 24 71
Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome 56
Neonatal Diabetes Mellitus with Congenital Hypothyroidism 12
Ndh 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
diabetes mellitus, neonatal, with congenital hypothyroidism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare renal diseases


Summaries for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

OMIM : 54
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 werner syndrome and tuberculosis, and has symptoms including intrauterine growth retardation, diabetes mellitus and cholestasis. 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:

id Related Disease Score Top Affiliating Genes
1 werner syndrome 9.8
2 tuberculosis 9.8

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

Symptoms via clinical synopsis from OMIM:

54

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

Abdomen- Liver:
hepatomegaly
hepatic fibrosis
portal hypertension
cholestasis
neonatal hepatitis

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

Head And Neck- Face:
long philtrum

Genitourinary- Kidneys:
polycystic kidneys

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

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

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

Abdomen- Gastroin testinal:
hiatal hernia (rare)

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

Immunology:
susceptibility to infection (in some patients)

Neurologic- Central Nervous System:
developmental delay

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

Head And Neck- Mouth:
thin upper lip

Growth- Other:
intrauterine growth retardation (iugr)

Abdomen- External Features:
umbilical hernia (rare)

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

Cardiovascular- Vascular:
portal hypertension (rare)

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 32 HP:0001511
2 diabetes mellitus 32 HP:0000819
3 cholestasis 32 HP:0001396
4 congenital hypothyroidism 32 HP:0000851
5 congenital glaucoma 32 HP:0001087
6 renal cyst 32 HP:0000107

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:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 29 24 GLIS3

Anatomical Context for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

39
Kidney, Thyroid

Publications for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Variations for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

6
id 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
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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42 MeSH
43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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