NDH
MCID: DBT022
MIFTS: 49

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 57 72 29 13 6 39 70
Ndh Syndrome 57 12 72
Neonatal Diabetes Mellitus with Congenital Hypothyroidism 12 15
Ndh 57 72
Neonatal Diabetes-Congenital Hypothyroidism-Congenital Glaucoma-Hepatic Fibrosis-Polycystic Kidneys Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
diabetes mellitus, neonatal, with congenital hypothyroidism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
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) (Updated 20-May-2021)

MalaCards based summary : Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism, also known as ndh syndrome, is related to neonatal thyrotoxicosis and helix syndrome. An important gene associated with Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism is GLIS3 (GLIS Family Zinc Finger 3), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of beta-cell development. Affiliated tissues include thyroid, thymus and kidney, and related phenotypes are osteopenia and splenomegaly

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

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 neonatal thyrotoxicosis 10.2 TSHR SLC16A2
2 helix syndrome 10.2
3 endemic goiter 10.1 TSHR SLC26A4
4 melanotic medulloblastoma 10.1 SUFU SHH
5 medullomyoblastoma 10.0 SUFU SHH
6 nodular medulloblastoma 10.0 SUFU SHH
7 suppurative thyroiditis 10.0 TSHR SLC5A5
8 maturity-onset diabetes of the young, type 6 10.0 NKX6-2 NEUROD1
9 graves disease 1 10.0 TSHR SLC5A5 SLC16A2
10 adult medulloblastoma 10.0 SUFU SHH
11 thyroid hormone resistance, generalized, autosomal dominant 10.0 TSHR SLC16A2
12 large cell medulloblastoma 10.0 SUFU SHH
13 maturity-onset diabetes of the young, type 4 10.0 NKX6-2 NKX6-1 NEUROD1
14 pancreatic cystadenoma 10.0 NKX6-2 NKX6-1 NEUROD1
15 keratocystic odontogenic tumor 10.0 SUFU SHH
16 ear malformation 9.9 SLC26A4 NEUROD1
17 microform holoprosencephaly 9.9 SUFU SHH
18 struma ovarii 9.9 TSHR NKX2-1
19 pancreatic agenesis 9.9 NKX6-2 NKX6-1 NEUROD1 GLIS3
20 permanent neonatal diabetes mellitus 9.9 NKX6-2 NKX6-1 NEUROD1 GLIS3
21 werner syndrome 9.9
22 leber hereditary optic neuropathy, modifier of 9.9
23 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
24 mycobacterium tuberculosis 1 9.9
25 malaria 9.9
26 epidemic typhus 9.9
27 optic nerve disease 9.9
28 psychotic disorder 9.9
29 lactic acidosis 9.9
30 syphilis 9.9
31 myopathy 9.9
32 mitochondrial myopathy 9.9
33 lactate dehydrogenase deficiency 9.9
34 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.9
35 glycogen storage disease due to lactate dehydrogenase deficiency 9.9
36 hereditary optic neuropathy 9.9
37 hypothyroidism, congenital, nongoitrous, 1 9.8 TSHR PAX8 FOXE1
38 pendred syndrome 9.8 SLC5A5 SLC26A4 PAX8
39 papillary thyroid microcarcinoma 9.8 TSHR NKX2-1
40 thymus basaloid carcinoma 9.8 PAX8 NKX2-1
41 thyroid angiosarcoma 9.8 PAX8 NKX2-1
42 thymus clear cell carcinoma 9.7 PAX8 NKX2-1
43 nasal cavity olfactory neuroblastoma 9.7 PAX8 NKX2-1
44 peritoneal serous adenocarcinoma 9.7 PAX8 NKX2-1
45 maturity-onset diabetes of the young 9.7 NKX6-2 NKX6-1 NEUROD1 HHEX GLIS3
46 focal dermal hypoplasia 9.7 SUFU SHH
47 benign struma ovarii 9.6 TSHR PAX8 NKX2-1
48 papillary serous adenocarcinoma 9.5 PAX8 NKX2-1
49 thyroid malformation 9.5 PAX8 NKX2-1 HHEX FOXE1
50 papillary carcinoma 9.5 TSHR PAX8 NKX2-1

Graphical network of the top 20 diseases related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:



Diseases related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 splenomegaly 31 occasional (7.5%) HP:0001744
3 umbilical hernia 31 occasional (7.5%) HP:0001537
4 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
5 portal hypertension 31 occasional (7.5%) HP:0001409
6 choanal atresia 31 occasional (7.5%) HP:0000453
7 buphthalmos 31 occasional (7.5%) HP:0000557
8 wide anterior fontanel 31 occasional (7.5%) HP:0000260
9 hiatus hernia 31 occasional (7.5%) HP:0002036
10 pancreatic cysts 31 occasional (7.5%) HP:0001737
11 recurrent infections 31 occasional (7.5%) HP:0002719
12 pancreatic hypoplasia 31 occasional (7.5%) HP:0002594
13 sagittal craniosynostosis 31 occasional (7.5%) HP:0004442
14 thoracolumbar scoliosis 31 occasional (7.5%) HP:0002944
15 splenic cyst 31 occasional (7.5%) HP:0030423
16 diabetes mellitus 31 HP:0000819
17 global developmental delay 31 HP:0001263
18 hepatomegaly 31 HP:0002240
19 depressed nasal bridge 31 HP:0005280
20 hepatitis 31 HP:0012115
21 intrauterine growth retardation 31 HP:0001511
22 low-set ears 31 HP:0000369
23 epicanthus 31 HP:0000286
24 hepatic fibrosis 31 HP:0001395
25 thin upper lip vermilion 31 HP:0000219
26 long philtrum 31 HP:0000343
27 polycystic kidney dysplasia 31 HP:0000113
28 cholestasis 31 HP:0001396
29 congenital hypothyroidism 31 HP:0000851

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Liver:
hepatomegaly
portal hypertension
hepatic fibrosis
cholestasis
neonatal hepatitis

Head And Neck Face:
long philtrum

Head And Neck Mouth:
thin upper lip

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

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)

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

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

Neurologic Central Nervous System:
developmental delay

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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 FOXE1 NEUROD1 PAX8 SHH SLC26A4 SUFU

MGI Mouse Phenotypes related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 NEUROD1 NKX2-1 NKX6-1 NKX6-2 PAX8 SHH
2 cellular MP:0005384 10.24 GLIS3 HHEX NEUROD1 NKX2-1 NKX6-1 NKX6-2
3 endocrine/exocrine gland MP:0005379 10.23 FOXE1 GLIS3 HHEX NEUROD1 NKX2-1 NKX6-1
4 homeostasis/metabolism MP:0005376 10.21 FOXE1 GLIS3 HHEX NEUROD1 NKX2-1 NKX6-1
5 growth/size/body region MP:0005378 10.17 FOXE1 GLIS3 HHEX NEUROD1 NKX2-1 PAX8
6 mortality/aging MP:0010768 10.1 FOXE1 GLIS3 HHEX NEUROD1 NKX2-1 NKX6-1
7 digestive/alimentary MP:0005381 10.02 FOXE1 NEUROD1 NKX2-1 SHH SLC26A4 SUFU
8 nervous system MP:0003631 10 HHEX NEUROD1 NKX2-1 NKX6-1 NKX6-2 PAX8
9 hearing/vestibular/ear MP:0005377 9.88 NEUROD1 PAX8 SHH SLC26A4 SLC5A5 TSHR
10 no phenotypic analysis MP:0003012 9.7 GLIS3 NKX2-1 NKX6-1 PAX8 SHH SLC16A2
11 renal/urinary system MP:0005367 9.5 GLIS3 NEUROD1 NKX6-2 PAX8 SHH SLC26A4
12 vision/eye MP:0005391 9.23 HHEX NEUROD1 NKX6-2 PAX8 SHH SLC5A5

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:

40
Thyroid, Thymus, Kidney

Publications for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

# Title Authors PMID Year
1
Expanding the Clinical Spectrum Associated With GLIS3 Mutations. 57 6
26259131 2015
2
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 57 6
16715098 2006
3
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? 6 57
12966531 2003
4
Novel GLIS3 mutations demonstrate an extended multisystem phenotype. 57
21139041 2011
5
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). 61
27148679 2016

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 254)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLIS3 NM_001042413.2(GLIS3):c.932del (p.Gly311fs) Deletion Pathogenic 253045 rs879255609 GRCh37: 9:4118546-4118546
GRCh38: 9:4118546-4118546
2 GLIS3 NM_001042413.2(GLIS3):c.1608C>G (p.Cys536Trp) SNV Pathogenic 253043 rs879255608 GRCh37: 9:4117870-4117870
GRCh38: 9:4117870-4117870
3 GLIS3 NM_001042413.2(GLIS3):c.1681C>T (p.His561Tyr) SNV Pathogenic 253044 rs868197660 GRCh37: 9:4117797-4117797
GRCh38: 9:4117797-4117797
4 GLIS3 NM_001042413.2(GLIS3):c.2338dup (p.Arg780fs) Duplication Pathogenic 1325 rs869320723 GRCh37: 9:3856143-3856144
GRCh38: 9:3856143-3856144
5 GLIS3 NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer) Duplication Likely pathogenic 667376 rs1586744173 GRCh37: 9:4125757-4125758
GRCh38: 9:4125757-4125758
6 GLIS3 NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter) SNV Likely pathogenic 1030060 GRCh37: 9:4286332-4286332
GRCh38: 9:4286332-4286332
7 GLIS3 NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg) SNV Uncertain significance 549530 rs376031632 GRCh37: 9:4118279-4118279
GRCh38: 9:4118279-4118279
8 GLIS3 , GLIS3-AS1 NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His) SNV Uncertain significance 435335 rs149840771 GRCh37: 9:3898723-3898723
GRCh38: 9:3898723-3898723
9 GLIS3 NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=) SNV Uncertain significance 366987 rs146238548 GRCh37: 9:4118434-4118434
GRCh38: 9:4118434-4118434
10 GLIS3 , GLIS3-AS1 NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe) SNV Uncertain significance 366958 rs374929970 GRCh37: 9:3898759-3898759
GRCh38: 9:3898759-3898759
11 GLIS3 NM_001042413.2(GLIS3):c.82A>G (p.Ile28Val) SNV Uncertain significance 367002 rs113754532 GRCh37: 9:4286344-4286344
GRCh38: 9:4286344-4286344
12 GLIS3 NM_001042413.2(GLIS3):c.1873-9C>G SNV Uncertain significance 782116 rs371770632 GRCh37: 9:3932479-3932479
GRCh38: 9:3932479-3932479
13 GLIS3 NM_001042413.2(GLIS3):c.205G>A (p.Ala69Thr) SNV Uncertain significance 1030058 GRCh37: 9:4286221-4286221
GRCh38: 9:4286221-4286221
14 GLIS3 NM_001042413.2(GLIS3):c.2528G>A (p.Arg843Lys) SNV Uncertain significance 1030059 GRCh37: 9:3829438-3829438
GRCh38: 9:3829438-3829438
15 GLIS3 NM_001042413.2(GLIS3):c.*515G>A SNV Uncertain significance 976631 GRCh37: 9:3827757-3827757
GRCh38: 9:3827757-3827757
16 GLIS3 NM_001042413.2(GLIS3):c.*513G>A SNV Uncertain significance 976632 GRCh37: 9:3827759-3827759
GRCh38: 9:3827759-3827759
17 GLIS3 NM_001042413.2(GLIS3):c.1117C>G (p.Leu373Val) SNV Uncertain significance 722791 rs200263979 GRCh37: 9:4118361-4118361
GRCh38: 9:4118361-4118361
18 GLIS3 NM_001042413.2(GLIS3):c.*2766G>C SNV Uncertain significance 914196 GRCh37: 9:3825506-3825506
GRCh38: 9:3825506-3825506
19 GLIS3 NM_001042413.2(GLIS3):c.*2764C>G SNV Uncertain significance 914197 GRCh37: 9:3825508-3825508
GRCh38: 9:3825508-3825508
20 GLIS3 NM_001042413.2(GLIS3):c.*2759A>C SNV Uncertain significance 914198 GRCh37: 9:3825513-3825513
GRCh38: 9:3825513-3825513
21 GLIS3 NM_001042413.2(GLIS3):c.*1765G>A SNV Uncertain significance 914246 GRCh37: 9:3826507-3826507
GRCh38: 9:3826507-3826507
22 GLIS3 NM_001042413.2(GLIS3):c.*969C>T SNV Uncertain significance 914287 GRCh37: 9:3827303-3827303
GRCh38: 9:3827303-3827303
23 GLIS3 NM_001042413.2(GLIS3):c.*962G>A SNV Uncertain significance 914288 GRCh37: 9:3827310-3827310
GRCh38: 9:3827310-3827310
24 GLIS3 NM_001042413.2(GLIS3):c.*863T>C SNV Uncertain significance 914289 GRCh37: 9:3827409-3827409
GRCh38: 9:3827409-3827409
25 GLIS3 NM_001042413.2(GLIS3):c.*836A>G SNV Uncertain significance 914290 GRCh37: 9:3827436-3827436
GRCh38: 9:3827436-3827436
26 GLIS3 NM_001042413.2(GLIS3):c.2656+3G>A SNV Uncertain significance 914325 GRCh37: 9:3829307-3829307
GRCh38: 9:3829307-3829307
27 GLIS3 NM_001042413.2(GLIS3):c.2568G>A (p.Ser856=) SNV Uncertain significance 914326 GRCh37: 9:3829398-3829398
GRCh38: 9:3829398-3829398
28 GLIS3 NM_001042413.2(GLIS3):c.2538G>A (p.Pro846=) SNV Uncertain significance 914327 GRCh37: 9:3829428-3829428
GRCh38: 9:3829428-3829428
29 GLIS3 NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu) SNV Uncertain significance 914328 GRCh37: 9:3829472-3829472
GRCh38: 9:3829472-3829472
30 GLIS3 NM_001042413.2(GLIS3):c.2350G>C (p.Ala784Pro) SNV Uncertain significance 914329 GRCh37: 9:3856132-3856132
GRCh38: 9:3856132-3856132
31 GLIS3 NM_001042413.2(GLIS3):c.1124C>A (p.Ala375Asp) SNV Uncertain significance 914401 GRCh37: 9:4118354-4118354
GRCh38: 9:4118354-4118354
32 GLIS3 NM_001042413.2(GLIS3):c.1111G>T (p.Gly371Cys) SNV Uncertain significance 914402 GRCh37: 9:4118367-4118367
GRCh38: 9:4118367-4118367
33 GLIS3 NM_001042413.2(GLIS3):c.1092G>C (p.Pro364=) SNV Uncertain significance 914403 GRCh37: 9:4118386-4118386
GRCh38: 9:4118386-4118386
34 GLIS3 NM_001042413.2(GLIS3):c.-132C>G SNV Uncertain significance 914495 GRCh37: 9:4299454-4299454
GRCh38: 9:4299454-4299454
35 GLIS3 NM_001042413.2(GLIS3):c.-204C>G SNV Uncertain significance 914496 GRCh37: 9:4299526-4299526
GRCh38: 9:4299526-4299526
36 GLIS3 NM_001042413.2(GLIS3):c.-205C>G SNV Uncertain significance 914497 GRCh37: 9:4299527-4299527
GRCh38: 9:4299527-4299527
37 GLIS3 NM_001042413.2(GLIS3):c.*3343T>A SNV Uncertain significance 914651 GRCh37: 9:3824929-3824929
GRCh38: 9:3824929-3824929
38 GLIS3 NM_001042413.2(GLIS3):c.*3340T>A SNV Uncertain significance 914652 GRCh37: 9:3824932-3824932
GRCh38: 9:3824932-3824932
39 GLIS3 NM_001042413.2(GLIS3):c.*3337T>A SNV Uncertain significance 914653 GRCh37: 9:3824935-3824935
GRCh38: 9:3824935-3824935
40 GLIS3 NM_001042413.2(GLIS3):c.*2697T>G SNV Uncertain significance 914690 GRCh37: 9:3825575-3825575
GRCh38: 9:3825575-3825575
41 GLIS3 NM_001042413.2(GLIS3):c.*2657T>G SNV Uncertain significance 914691 GRCh37: 9:3825615-3825615
GRCh38: 9:3825615-3825615
42 GLIS3 NM_001042413.2(GLIS3):c.*1673A>G SNV Uncertain significance 914734 GRCh37: 9:3826599-3826599
GRCh38: 9:3826599-3826599
43 GLIS3 NM_001042413.2(GLIS3):c.*1566T>G SNV Uncertain significance 914735 GRCh37: 9:3826706-3826706
GRCh38: 9:3826706-3826706
44 GLIS3 NM_001042413.2(GLIS3):c.*1507T>C SNV Uncertain significance 914736 GRCh37: 9:3826765-3826765
GRCh38: 9:3826765-3826765
45 GLIS3 NM_001042413.2(GLIS3):c.*701T>C SNV Uncertain significance 914787 GRCh37: 9:3827571-3827571
GRCh38: 9:3827571-3827571
46 GLIS3 NM_001042413.2(GLIS3):c.*679C>A SNV Uncertain significance 914788 GRCh37: 9:3827593-3827593
GRCh38: 9:3827593-3827593
47 GLIS3 NM_001042413.2(GLIS3):c.*3576G>A SNV Uncertain significance 914150 GRCh37: 9:3824696-3824696
GRCh38: 9:3824696-3824696
48 GLIS3 NM_001042413.2(GLIS3):c.*3441T>C SNV Uncertain significance 914151 GRCh37: 9:3824831-3824831
GRCh38: 9:3824831-3824831
49 GLIS3 NM_001042413.2(GLIS3):c.*3394T>C SNV Uncertain significance 914152 GRCh37: 9:3824878-3824878
GRCh38: 9:3824878-3824878
50 GLIS3 NM_001042413.2(GLIS3):c.*3344T>A SNV Uncertain significance 914153 GRCh37: 9:3824928-3824928
GRCh38: 9:3824928-3824928

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

Cellular components related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.73 WWTR1 SUFU SLC5A5 PAX8 NKX6-2 NKX6-1
2 chromatin GO:0000785 9.23 PAX8 NKX6-2 NKX6-1 NKX2-4 NKX2-1 NEUROD1

Biological processes related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.09 PAX8 NKX6-2 NKX6-1 NKX2-4 NKX2-1 NEUROD1
2 multicellular organism development GO:0007275 10.01 SUFU SHH PAX8 NKX6-2 NKX6-1 NKX2-4
3 positive regulation of transcription, DNA-templated GO:0045893 10 SHH PAX8 NKX2-1 NEUROD1 HHEX FOXE1
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 WWTR1 SHH PAX8 NKX6-1 NKX2-1 NEUROD1
5 cell differentiation GO:0030154 9.92 PAX8 NKX6-2 NKX6-1 NKX2-4 NKX2-1 NEUROD1
6 anterior/posterior pattern specification GO:0009952 9.77 SHH NEUROD1 HHEX
7 smoothened signaling pathway GO:0007224 9.75 SUFU SHH NKX6-1
8 neuron fate commitment GO:0048663 9.64 SHH NKX2-1
9 hair follicle morphogenesis GO:0031069 9.63 SHH FOXE1
10 pancreas development GO:0031016 9.63 SHH NKX6-1
11 endocrine pancreas development GO:0031018 9.63 NKX6-2 NKX6-1 NEUROD1
12 dopaminergic neuron differentiation GO:0071542 9.62 TSHR SHH
13 hindbrain development GO:0030902 9.62 SHH NEUROD1
14 epithelial tube branching involved in lung morphogenesis GO:0060441 9.61 SHH NKX2-1
15 anatomical structure formation involved in morphogenesis GO:0048646 9.61 SHH NKX2-1
16 negative regulation of transcription by RNA polymerase II GO:0000122 9.61 WWTR1 SUFU SHH NKX6-2 NKX6-1 NKX2-1
17 thyroid hormone generation GO:0006590 9.6 SLC5A5 FOXE1
18 cellular response to gonadotropin stimulus GO:0071371 9.58 SLC5A5 PAX8
19 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.57 WWTR1 PAX8
20 embryonic organ morphogenesis GO:0048562 9.56 NEUROD1 FOXE1
21 oligodendrocyte differentiation GO:0048709 9.56 SHH NKX6-2 NKX6-1 NKX2-1
22 positive regulation of glial cell differentiation GO:0045687 9.55 NKX6-2 NKX6-1
23 spinal cord dorsal/ventral patterning GO:0021513 9.54 SUFU SHH
24 iodide transport GO:0015705 9.51 SLC5A5 SLC26A4
25 negative regulation of glial cell differentiation GO:0045686 9.49 NKX6-2 NKX6-1
26 thyroid-stimulating hormone signaling pathway GO:0038194 9.48 TSHR PAX8
27 thyroid gland development GO:0030878 9.46 SHH PAX8 NKX2-1 FOXE1
28 regulation of transcription, DNA-templated GO:0006355 9.36 WWTR1 SUFU SHH PAX8 NKX6-2 NKX6-1

Molecular functions related to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 PAX8 NKX6-2 NKX6-1 NKX2-4 NKX2-1 NEUROD1
2 DNA-binding transcription factor activity GO:0003700 9.85 PAX8 NKX6-2 NKX6-1 NKX2-1 NEUROD1 FOXE1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.81 PAX8 NKX6-2 NKX6-1 NKX2-4 NKX2-1 NEUROD1
4 transcription factor binding GO:0008134 9.73 SUFU NKX2-1 NEUROD1 HHEX
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.61 PAX8 NKX6-2 NKX6-1 NKX2-4 NKX2-1 NEUROD1
6 iodide transmembrane transporter activity GO:0015111 9.32 SLC5A5 SLC26A4
7 thyroid-stimulating hormone receptor activity GO:0004996 9.26 TSHR PAX8
8 sequence-specific DNA binding GO:0043565 9.17 PAX8 NKX6-2 NKX6-1 NKX2-1 NEUROD1 HHEX

Sources for Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....