Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Ndh

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Ndh

  • Global developmental delay
  • Pica
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus
  • Hepatomegaly
And another 47 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Ndh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, CISD2, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
GLIS3 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

GLIS3
Specificity
100 %
Genes
100 %
GLIS3 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GLIS3
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Diabetes mellitus neonatal (sequence analysis of GLIS3 gene).

By CGC Genetics in Portugal.

GLIS3
Specificity
100 %
Genes
100 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PAX6, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, IER3IP1, RFX6, GLIS3, PTF1A, GATA6
Specificity
8 %
Genes
100 %
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism.

By Exeter Molecular Genetics Laboratory in United Kingdom.

GLIS3
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene.

By PreventionGenetics PreventionGenetics in United States.

GLIS3
Specificity
100 %
Genes
100 %
GLIS3.

By Department of Clinical Genetics Odense University Hospital in Denmark.

GLIS3
Specificity
100 %
Genes
100 %
GLIS3.

By Department of Clinical Genetics Odense University Hospital in Denmark.

GLIS3
Specificity
100 %
Genes
100 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism.

By Bioscientia GmbH Center for Human Genetics in Germany.

GLIS3
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Diabetes mellitus neonatal.

By Centogene AG - the Rare Disease Company in Germany.

GLIS3
Specificity
100 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Maturity-onset diabetes of the young MODY.

By Health in Code in Spain.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Diabetes mellitus, neonatal permanent.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NEUROD1, PAX6, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
6 %
Genes
100 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, ARL6, MKKS, CEP290, TTC8, TRIM32, GCK, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
MODY Neonatal Diabetes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, GLUD1, CISD2, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, HADH, SLC2A2, AKT2, RFX6 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
GLIS3.

By Fulgent Genetics Fulgent Genetics in United States.

GLIS3
Specificity
100 %
Genes
100 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
GLIS3 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GLIS3
Specificity
100 %
Genes
100 %
Monogenic Diabetes NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
DIABETES MODY & NEONATAL DIABETES : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HNF1A, NEUROD1, HNF1B, GCK, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, EIF2AK3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

NEUROD1, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
7 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; Ndh Is also known as ndh syndrome;.



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