NDH
MCID: DBT022
MIFTS: 28

Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism (NDH)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare 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 58 76 30 13 6 41 74
Ndh Syndrome 58 12 76
Ndh 58 76
Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome 60
Neonatal Diabetes Mellitus with Congenital Hypothyroidism 12

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

33
diabetes mellitus, neonatal, with congenital hypothyroidism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


Summaries for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

OMIM : 58 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 neutrophil actin dysfunction and werner syndrome. An important gene associated with Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism is GLIS3 (GLIS Family Zinc Finger 3). Affiliated tissues include kidney, thyroid and neutrophil, and related phenotypes are osteopenia and splenomegaly

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 : 76 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 neutrophil actin dysfunction 10.4
2 werner syndrome 10.1
3 malaria 10.1
4 desmoplastic infantile astrocytoma 10.1

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

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

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 occasional (7.5%) HP:0000938
2 splenomegaly 33 occasional (7.5%) HP:0001744
3 umbilical hernia 33 occasional (7.5%) HP:0001537
4 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
5 portal hypertension 33 occasional (7.5%) HP:0001409
6 pancreatic cysts 33 occasional (7.5%) HP:0001737
7 choanal atresia 33 occasional (7.5%) HP:0000453
8 recurrent infections 33 occasional (7.5%) HP:0002719
9 buphthalmos 33 occasional (7.5%) HP:0000557
10 wide anterior fontanel 33 occasional (7.5%) HP:0000260
11 hiatus hernia 33 occasional (7.5%) HP:0002036
12 pancreatic hypoplasia 33 occasional (7.5%) HP:0002594
13 thoracolumbar scoliosis 33 occasional (7.5%) HP:0002944
14 sagittal craniosynostosis 33 occasional (7.5%) HP:0004442
15 splenic cyst 33 occasional (7.5%) HP:0030423
16 low-set ears 33 HP:0000369
17 diabetes mellitus 33 HP:0000819
18 global developmental delay 33 HP:0001263
19 hepatomegaly 33 HP:0002240
20 depressed nasal bridge 33 HP:0005280
21 hepatitis 33 HP:0012115
22 long philtrum 33 HP:0000343
23 epicanthus 33 HP:0000286
24 intrauterine growth retardation 33 HP:0001511
25 hepatic fibrosis 33 HP:0001395
26 polycystic kidney dysplasia 33 HP:0000113
27 cholestasis 33 HP:0001396
28 thin upper lip vermilion 33 HP:0000219
29 congenital hypothyroidism 33 HP:0000851

Symptoms via clinical synopsis from OMIM:

58
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

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

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 30 GLIS3

Anatomical Context for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

42
Kidney, Thyroid, Neutrophil

Publications for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

# Title Authors Year
1
Expanding the Clinical Spectrum Associated With GLIS3 Mutations. ( 26259131 )
2015
2
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. ( 16715098 )
2006
3
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? ( 12966531 )
2003

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 250)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLIS3 NM_001042413.1(GLIS3): c.2338dup (p.Arg780Profs) duplication Pathogenic rs869320723 GRCh37 Chromosome 9, 3856144: 3856144
2 GLIS3 NM_001042413.1(GLIS3): c.2338dup (p.Arg780Profs) duplication Pathogenic rs869320723 GRCh38 Chromosome 9, 3856144: 3856144
3 GLIS3 NM_152629.3(GLIS3): c.2221C> T (p.Leu741Phe) single nucleotide variant Benign/Likely benign rs76094493 GRCh37 Chromosome 9, 3828379: 3828379
4 GLIS3 NM_152629.3(GLIS3): c.2221C> T (p.Leu741Phe) single nucleotide variant Benign/Likely benign rs76094493 GRCh38 Chromosome 9, 3828379: 3828379
5 GLIS3 NM_152629.3(GLIS3): c.1071C> A (p.Asp357Glu) single nucleotide variant Benign/Likely benign rs148199056 GRCh37 Chromosome 9, 4117942: 4117942
6 GLIS3 NM_152629.3(GLIS3): c.1071C> A (p.Asp357Glu) single nucleotide variant Benign/Likely benign rs148199056 GRCh38 Chromosome 9, 4117942: 4117942
7 GLIS3 NM_152629.3(GLIS3): c.805T> C (p.Ser269Pro) single nucleotide variant Benign rs806052 GRCh37 Chromosome 9, 4118208: 4118208
8 GLIS3 NM_152629.3(GLIS3): c.805T> C (p.Ser269Pro) single nucleotide variant Benign rs806052 GRCh38 Chromosome 9, 4118208: 4118208
9 GLIS3 NM_152629.3(GLIS3): c.902C> A (p.Pro301Gln) single nucleotide variant Benign rs6415788 GRCh37 Chromosome 9, 4118111: 4118111
10 GLIS3 NM_152629.3(GLIS3): c.902C> A (p.Pro301Gln) single nucleotide variant Benign rs6415788 GRCh38 Chromosome 9, 4118111: 4118111
11 GLIS3 NM_001042413.1(GLIS3): c.1608C> G (p.Cys536Trp) single nucleotide variant Pathogenic rs879255608 GRCh37 Chromosome 9, 4117870: 4117870
12 GLIS3 NM_001042413.1(GLIS3): c.1608C> G (p.Cys536Trp) single nucleotide variant Pathogenic rs879255608 GRCh38 Chromosome 9, 4117870: 4117870
13 GLIS3 NM_001042413.1(GLIS3): c.1681C> T (p.His561Tyr) single nucleotide variant Pathogenic rs868197660 GRCh37 Chromosome 9, 4117797: 4117797
14 GLIS3 NM_001042413.1(GLIS3): c.1681C> T (p.His561Tyr) single nucleotide variant Pathogenic rs868197660 GRCh38 Chromosome 9, 4117797: 4117797
15 GLIS3 NM_001042413.1(GLIS3): c.932delG (p.Gly311Alafs) deletion Pathogenic rs879255609 GRCh38 Chromosome 9, 4118546: 4118546
16 GLIS3 NM_001042413.1(GLIS3): c.932delG (p.Gly311Alafs) deletion Pathogenic rs879255609 GRCh37 Chromosome 9, 4118546: 4118546
17 GLIS3 NM_001042413.1(GLIS3): c.171C> T (p.Asn57=) single nucleotide variant Benign/Likely benign rs117802495 GRCh38 Chromosome 9, 4286255: 4286255
18 GLIS3 NM_001042413.1(GLIS3): c.171C> T (p.Asn57=) single nucleotide variant Benign/Likely benign rs117802495 GRCh37 Chromosome 9, 4286255: 4286255
19 GLIS3 NM_001042413.1(GLIS3): c.*3409G> A single nucleotide variant Likely benign rs115222174 GRCh38 Chromosome 9, 3824863: 3824863
20 GLIS3 NM_001042413.1(GLIS3): c.*3409G> A single nucleotide variant Likely benign rs115222174 GRCh37 Chromosome 9, 3824863: 3824863
21 GLIS3 NM_001042413.1(GLIS3): c.*3337_*3338insA insertion Uncertain significance rs886063938 GRCh38 Chromosome 9, 3824934: 3824935
22 GLIS3 NM_001042413.1(GLIS3): c.*3337_*3338insA insertion Uncertain significance rs886063938 GRCh37 Chromosome 9, 3824934: 3824935
23 GLIS3 NM_001042413.1(GLIS3): c.*3336delA deletion Uncertain significance rs200420290 GRCh38 Chromosome 9, 3824936: 3824936
24 GLIS3 NM_001042413.1(GLIS3): c.*3336delA deletion Uncertain significance rs200420290 GRCh37 Chromosome 9, 3824936: 3824936
25 GLIS3 NM_001042413.1(GLIS3): c.*3257A> G single nucleotide variant Uncertain significance rs117876027 GRCh38 Chromosome 9, 3825015: 3825015
26 GLIS3 NM_001042413.1(GLIS3): c.*3257A> G single nucleotide variant Uncertain significance rs117876027 GRCh37 Chromosome 9, 3825015: 3825015
27 GLIS3 NM_001042413.1(GLIS3): c.*3231A> C single nucleotide variant Uncertain significance rs886063940 GRCh38 Chromosome 9, 3825041: 3825041
28 GLIS3 NM_001042413.1(GLIS3): c.*3231A> C single nucleotide variant Uncertain significance rs886063940 GRCh37 Chromosome 9, 3825041: 3825041
29 GLIS3 NM_001042413.1(GLIS3): c.*2944T> C single nucleotide variant Likely benign rs2297324 GRCh38 Chromosome 9, 3825328: 3825328
30 GLIS3 NM_001042413.1(GLIS3): c.*2944T> C single nucleotide variant Likely benign rs2297324 GRCh37 Chromosome 9, 3825328: 3825328
31 GLIS3 NM_001042413.1(GLIS3): c.*2890C> G single nucleotide variant Uncertain significance rs192113877 GRCh37 Chromosome 9, 3825382: 3825382
32 GLIS3 NM_001042413.1(GLIS3): c.*2890C> G single nucleotide variant Uncertain significance rs192113877 GRCh38 Chromosome 9, 3825382: 3825382
33 GLIS3 NM_001042413.1(GLIS3): c.*2856A> C single nucleotide variant Uncertain significance rs147347517 GRCh37 Chromosome 9, 3825416: 3825416
34 GLIS3 NM_001042413.1(GLIS3): c.*2856A> C single nucleotide variant Uncertain significance rs147347517 GRCh38 Chromosome 9, 3825416: 3825416
35 GLIS3 NM_001042413.1(GLIS3): c.*2499T> A single nucleotide variant Uncertain significance rs886063944 GRCh37 Chromosome 9, 3825773: 3825773
36 GLIS3 NM_001042413.1(GLIS3): c.*2499T> A single nucleotide variant Uncertain significance rs886063944 GRCh38 Chromosome 9, 3825773: 3825773
37 GLIS3 NM_001042413.1(GLIS3): c.*2460C> T single nucleotide variant Benign rs1053277 GRCh37 Chromosome 9, 3825812: 3825812
38 GLIS3 NM_001042413.1(GLIS3): c.*2460C> T single nucleotide variant Benign rs1053277 GRCh38 Chromosome 9, 3825812: 3825812
39 GLIS3 NM_001042413.1(GLIS3): c.*1636G> T single nucleotide variant Uncertain significance rs183582256 GRCh38 Chromosome 9, 3826636: 3826636
40 GLIS3 NM_001042413.1(GLIS3): c.*1636G> T single nucleotide variant Uncertain significance rs183582256 GRCh37 Chromosome 9, 3826636: 3826636
41 GLIS3 NM_001042413.1(GLIS3): c.*969C> G single nucleotide variant Uncertain significance rs756499534 GRCh38 Chromosome 9, 3827303: 3827303
42 GLIS3 NM_001042413.1(GLIS3): c.*969C> G single nucleotide variant Uncertain significance rs756499534 GRCh37 Chromosome 9, 3827303: 3827303
43 GLIS3 NM_001042413.1(GLIS3): c.*391C> T single nucleotide variant Uncertain significance rs886063951 GRCh37 Chromosome 9, 3827881: 3827881
44 GLIS3 NM_001042413.1(GLIS3): c.*391C> T single nucleotide variant Uncertain significance rs886063951 GRCh38 Chromosome 9, 3827881: 3827881
45 GLIS3 NM_001042413.1(GLIS3): c.*99C> T single nucleotide variant Uncertain significance rs886063952 GRCh37 Chromosome 9, 3828173: 3828173
46 GLIS3 NM_001042413.1(GLIS3): c.*99C> T single nucleotide variant Uncertain significance rs886063952 GRCh38 Chromosome 9, 3828173: 3828173
47 GLIS3 NM_001042413.1(GLIS3): c.2710G> A (p.Gly904Arg) single nucleotide variant Uncertain significance rs150310830 GRCh37 Chromosome 9, 3828355: 3828355
48 GLIS3 NM_001042413.1(GLIS3): c.2710G> A (p.Gly904Arg) single nucleotide variant Uncertain significance rs150310830 GRCh38 Chromosome 9, 3828355: 3828355
49 GLIS3 NM_001042413.1(GLIS3): c.2060C> T (p.Ser687Phe) single nucleotide variant Uncertain significance rs374929970 GRCh37 Chromosome 9, 3898759: 3898759
50 GLIS3 NM_001042413.1(GLIS3): c.2060C> T (p.Ser687Phe) single nucleotide variant Uncertain significance rs374929970 GRCh38 Chromosome 9, 3898759: 3898759

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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