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 57 75 29 13 6 40 73
Ndh Syndrome 57 12 75
Ndh 57 75
Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome 59
Neonatal Diabetes Mellitus with Congenital Hypothyroidism 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
diabetes mellitus, neonatal, with congenital hypothyroidism:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

OMIM : 57 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. An important gene associated with Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism is GLIS3 (GLIS Family Zinc Finger 3). Affiliated tissues include kidney and thyroid, and related phenotypes are polycystic kidney dysplasia and thin upper lip vermilion

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.

UniProtKB/Swiss-Prot : 75 Diabetes mellitus, neonatal, with congenital hypothyroidism: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.

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 werner syndrome 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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 Gastrointestinal:
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
congenital glaucoma (in some patients)
hazy corneas, bilateral (rare)
enlarged corneas, bilateral (rare)
buphthalmos (rare)

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

Abdomen External Features:
umbilical hernia (rare)

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

AbdomenSpleen:
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:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 32 HP:0000113
2 thin upper lip vermilion 32 HP:0000219
3 wide anterior fontanel 32 occasional (7.5%) HP:0000260
4 epicanthus 32 HP:0000286
5 long philtrum 32 HP:0000343
6 low-set ears 32 HP:0000369
7 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
8 choanal atresia 32 occasional (7.5%) HP:0000453
9 buphthalmos 32 occasional (7.5%) HP:0000557
10 diabetes mellitus 32 HP:0000819
11 congenital hypothyroidism 32 HP:0000851
12 osteopenia 32 occasional (7.5%) HP:0000938
13 global developmental delay 32 HP:0001263
14 hepatic fibrosis 32 HP:0001395
15 cholestasis 32 HP:0001396
16 portal hypertension 32 occasional (7.5%) HP:0001409
17 intrauterine growth retardation 32 HP:0001511
18 umbilical hernia 32 occasional (7.5%) HP:0001537
19 pancreatic cysts 32 occasional (7.5%) HP:0001737
20 splenomegaly 32 occasional (7.5%) HP:0001744
21 hiatus hernia 32 occasional (7.5%) HP:0002036
22 hepatomegaly 32 HP:0002240
23 pancreatic hypoplasia 32 occasional (7.5%) HP:0002594
24 recurrent infections 32 occasional (7.5%) HP:0002719
25 thoracolumbar scoliosis 32 occasional (7.5%) HP:0002944
26 sagittal craniosynostosis 32 occasional (7.5%) HP:0004442
27 depressed nasal bridge 32 HP:0005280
28 splenic cyst 32 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 29 GLIS3

Anatomical Context for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

41
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
(show top 50) (show all 242)
# 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.2338dupC (p.Arg780Profs) duplication Pathogenic rs869320723 GRCh38 Chromosome 9, 3856144: 3856144
3 GLIS3 NM_001042413.1(GLIS3): c.1608C> G (p.Cys536Trp) single nucleotide variant Pathogenic rs879255608 GRCh37 Chromosome 9, 4117870: 4117870
4 GLIS3 NM_001042413.1(GLIS3): c.1608C> G (p.Cys536Trp) single nucleotide variant Pathogenic rs879255608 GRCh38 Chromosome 9, 4117870: 4117870
5 GLIS3 NM_001042413.1(GLIS3): c.1681C> T (p.His561Tyr) single nucleotide variant Pathogenic rs868197660 GRCh37 Chromosome 9, 4117797: 4117797
6 GLIS3 NM_001042413.1(GLIS3): c.1681C> T (p.His561Tyr) single nucleotide variant Pathogenic rs868197660 GRCh38 Chromosome 9, 4117797: 4117797
7 GLIS3 NM_001042413.1(GLIS3): c.932delG (p.Gly311Alafs) deletion Pathogenic rs879255609 GRCh38 Chromosome 9, 4118546: 4118546
8 GLIS3 NM_001042413.1(GLIS3): c.932delG (p.Gly311Alafs) deletion Pathogenic rs879255609 GRCh37 Chromosome 9, 4118546: 4118546
9 GLIS3 NM_001042413.1(GLIS3): c.171C> T (p.Asn57=) single nucleotide variant Likely benign rs117802495 GRCh38 Chromosome 9, 4286255: 4286255
10 GLIS3 NM_001042413.1(GLIS3): c.171C> T (p.Asn57=) single nucleotide variant Likely benign rs117802495 GRCh37 Chromosome 9, 4286255: 4286255
11 GLIS3 NM_001042413.1(GLIS3): c.*3409G> A single nucleotide variant Likely benign rs115222174 GRCh38 Chromosome 9, 3824863: 3824863
12 GLIS3 NM_001042413.1(GLIS3): c.*3409G> A single nucleotide variant Likely benign rs115222174 GRCh37 Chromosome 9, 3824863: 3824863
13 GLIS3 NM_001042413.1(GLIS3): c.*3337_*3338insA insertion Uncertain significance rs886063938 GRCh37 Chromosome 9, 3824934: 3824935
14 GLIS3 NM_001042413.1(GLIS3): c.*3337_*3338insA insertion Uncertain significance rs886063938 GRCh38 Chromosome 9, 3824934: 3824935
15 GLIS3 NM_001042413.1(GLIS3): c.*3336delA deletion Uncertain significance rs200420290 GRCh37 Chromosome 9, 3824936: 3824936
16 GLIS3 NM_001042413.1(GLIS3): c.*3336delA deletion Uncertain significance rs200420290 GRCh38 Chromosome 9, 3824936: 3824936
17 GLIS3 NM_001042413.1(GLIS3): c.*3257A> G single nucleotide variant Uncertain significance rs117876027 GRCh37 Chromosome 9, 3825015: 3825015
18 GLIS3 NM_001042413.1(GLIS3): c.*3257A> G single nucleotide variant Uncertain significance rs117876027 GRCh38 Chromosome 9, 3825015: 3825015
19 GLIS3 NM_001042413.1(GLIS3): c.*3231A> C single nucleotide variant Uncertain significance rs886063940 GRCh37 Chromosome 9, 3825041: 3825041
20 GLIS3 NM_001042413.1(GLIS3): c.*3231A> C single nucleotide variant Uncertain significance rs886063940 GRCh38 Chromosome 9, 3825041: 3825041
21 GLIS3 NM_001042413.1(GLIS3): c.*2944T> C single nucleotide variant Likely benign rs2297324 GRCh37 Chromosome 9, 3825328: 3825328
22 GLIS3 NM_001042413.1(GLIS3): c.*2944T> C single nucleotide variant Likely benign rs2297324 GRCh38 Chromosome 9, 3825328: 3825328
23 GLIS3 NM_001042413.1(GLIS3): c.*2890C> G single nucleotide variant Uncertain significance rs192113877 GRCh37 Chromosome 9, 3825382: 3825382
24 GLIS3 NM_001042413.1(GLIS3): c.*2890C> G single nucleotide variant Uncertain significance rs192113877 GRCh38 Chromosome 9, 3825382: 3825382
25 GLIS3 NM_001042413.1(GLIS3): c.*2856A> C single nucleotide variant Uncertain significance rs147347517 GRCh37 Chromosome 9, 3825416: 3825416
26 GLIS3 NM_001042413.1(GLIS3): c.*2856A> C single nucleotide variant Uncertain significance rs147347517 GRCh38 Chromosome 9, 3825416: 3825416
27 GLIS3 NM_001042413.1(GLIS3): c.*2499T> A single nucleotide variant Uncertain significance rs886063944 GRCh37 Chromosome 9, 3825773: 3825773
28 GLIS3 NM_001042413.1(GLIS3): c.*2499T> A single nucleotide variant Uncertain significance rs886063944 GRCh38 Chromosome 9, 3825773: 3825773
29 GLIS3 NM_001042413.1(GLIS3): c.*2460C> T single nucleotide variant Benign rs1053277 GRCh37 Chromosome 9, 3825812: 3825812
30 GLIS3 NM_001042413.1(GLIS3): c.*2460C> T single nucleotide variant Benign rs1053277 GRCh38 Chromosome 9, 3825812: 3825812
31 GLIS3 NM_001042413.1(GLIS3): c.*1636G> T single nucleotide variant Uncertain significance rs183582256 GRCh37 Chromosome 9, 3826636: 3826636
32 GLIS3 NM_001042413.1(GLIS3): c.*1636G> T single nucleotide variant Uncertain significance rs183582256 GRCh38 Chromosome 9, 3826636: 3826636
33 GLIS3 NM_001042413.1(GLIS3): c.*969C> G single nucleotide variant Uncertain significance rs756499534 GRCh37 Chromosome 9, 3827303: 3827303
34 GLIS3 NM_001042413.1(GLIS3): c.*969C> G single nucleotide variant Uncertain significance rs756499534 GRCh38 Chromosome 9, 3827303: 3827303
35 GLIS3 NM_001042413.1(GLIS3): c.*391C> T single nucleotide variant Uncertain significance rs886063951 GRCh37 Chromosome 9, 3827881: 3827881
36 GLIS3 NM_001042413.1(GLIS3): c.*391C> T single nucleotide variant Uncertain significance rs886063951 GRCh38 Chromosome 9, 3827881: 3827881
37 GLIS3 NM_001042413.1(GLIS3): c.*99C> T single nucleotide variant Uncertain significance rs886063952 GRCh37 Chromosome 9, 3828173: 3828173
38 GLIS3 NM_001042413.1(GLIS3): c.*99C> T single nucleotide variant Uncertain significance rs886063952 GRCh38 Chromosome 9, 3828173: 3828173
39 GLIS3 NM_001042413.1(GLIS3): c.2710G> A (p.Gly904Arg) single nucleotide variant Uncertain significance rs150310830 GRCh37 Chromosome 9, 3828355: 3828355
40 GLIS3 NM_001042413.1(GLIS3): c.2710G> A (p.Gly904Arg) single nucleotide variant Uncertain significance rs150310830 GRCh38 Chromosome 9, 3828355: 3828355
41 GLIS3 NM_001042413.1(GLIS3): c.2060C> T (p.Ser687Phe) single nucleotide variant Uncertain significance rs374929970 GRCh37 Chromosome 9, 3898759: 3898759
42 GLIS3 NM_001042413.1(GLIS3): c.2060C> T (p.Ser687Phe) single nucleotide variant Uncertain significance rs374929970 GRCh38 Chromosome 9, 3898759: 3898759
43 GLIS3 NM_001042413.1(GLIS3): c.1988G> A (p.Arg663Gln) single nucleotide variant Uncertain significance rs144720690 GRCh37 Chromosome 9, 3898831: 3898831
44 GLIS3 NM_001042413.1(GLIS3): c.1988G> A (p.Arg663Gln) single nucleotide variant Uncertain significance rs144720690 GRCh38 Chromosome 9, 3898831: 3898831
45 GLIS3 NM_001042413.1(GLIS3): c.1452G> A (p.Gln484=) single nucleotide variant Uncertain significance rs143229804 GRCh37 Chromosome 9, 4118026: 4118026
46 GLIS3 NM_001042413.1(GLIS3): c.1452G> A (p.Gln484=) single nucleotide variant Uncertain significance rs143229804 GRCh38 Chromosome 9, 4118026: 4118026
47 GLIS3 NM_001042413.1(GLIS3): c.1368A> T (p.Pro456=) single nucleotide variant Uncertain significance rs755087869 GRCh37 Chromosome 9, 4118110: 4118110
48 GLIS3 NM_001042413.1(GLIS3): c.1368A> T (p.Pro456=) single nucleotide variant Uncertain significance rs755087869 GRCh38 Chromosome 9, 4118110: 4118110
49 GLIS3 NM_001042413.1(GLIS3): c.1327C> T (p.Leu443=) single nucleotide variant Uncertain significance rs529418802 GRCh37 Chromosome 9, 4118151: 4118151
50 GLIS3 NM_001042413.1(GLIS3): c.1327C> T (p.Leu443=) single nucleotide variant Uncertain significance rs529418802 GRCh38 Chromosome 9, 4118151: 4118151

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

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