Transient neonatal diabetes mellitus

Transient neonatal diabetes mellitus
Classification and external resources
Specialty	pediatrics
ICD-10	P70.2
OMIM	601410 610374 610582
GeneReviews	Diabetes Mellitus, 6q24-Related Transient Neonatal

Transient neonatal diabetes mellitus (TNDM) is a form of diabetes mellitus presenting at birth that is not permanent. This disease is considered to be a type of maturity onset diabetes of the young (MODY).

Types include:

Type	OMIM	Gene	Locus	Description
TNDM1	601410	ZFP57, PLAGL1	6p22.1, 6p24.2
TNDM2	610374	ABCC8	11p15.1	Due to the mutations of the other subunit of the K_ATP channel, SUR1, which is encoded by the ABCC8 gene.^[1]
TNDM3	610582	KCNJ11	11p15.1

It is to do with genetics and is often associated with having an added Chromosome 7 gene (mostly from the paternal side).

The form on chromosome 6 can involve imprinting.^[2]

^[3]

References

↑ de Wet H, Proks P, Lafond M, et al. (May 2008). "A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes". EMBO Rep. 9 (7): 648–54. doi:10.1038/embor.2008.71. PMC 2475326. PMID 18497752.
↑ Raphaël Scharfmann (2007). Development of the Pancreas and Neonatal Diabetes. Karger Publishers. pp. 113–. ISBN 978-3-8055-8385-5. Retrieved 10 November 2010.
↑ "Other Forms (MODY, LADA, Neonatal)". www.DiabetesCare.net. DiabetesCare.net. Retrieved 20 November 2014.

External links

GeneReview/NIH/UW entry on 6q24-Related Transient Neonatal Diabetes Mellitus

Diabetes (E10–E14, 250)

Types	Type 1 Type 2 Gestational diabetes Diabetes and pregnancy Prediabetes Impaired fasting glucose Impaired glucose tolerance Insulin resistance LADA KPD MODY Neonatal Transient Permanent

Blood tests	Blood sugar Glycosylated hemoglobin Glucose tolerance test Postprandial glucose test Fructosamine Glucose test C-peptide Noninvasive glucose monitor Insulin tolerance test

Management	Diabetic diet Anti-diabetic drugs Insulin therapy intensive conventional pulsatile Cure Embryonic stem cells Artificial pancreas Other Gastric bypass surgery

Complications	Diabetic comas Hypoglycemia Ketoacidosis Hyperosmolar hyperglycemic state Diabetic foot ulcer Neuropathic arthropathy Organs in diabetes Blood vessels Muscle Kidney Nerves Retina Heart Diabetic skin disease Diabetic dermopathy Diabetic bulla Diabetic cheiroarthropathy Neuropathic ulcer Hyperglycemia Hypoglycemia

Other	Glossary of diabetes

Non-Mendelian inheritance: genomic imprinting

Chromosome 15

Angelman syndrome ♀ / Prader-Willi syndrome ♂

Chromosome 11

Beckwith–Wiedemann syndrome ♀ / Silver–Russell syndrome ♂

Myoclonic dystonia

Chromosome 20

Pseudohypoparathyroidism ♀ / Pseudopseudohypoparathyroidism ♂

Chromosome 6

Transient neonatal diabetes mellitus

Genetic disorder, membrane: ABC-transporter disorders

ABCA	ABCA1 (Tangier disease) ABCA3 (Surfactant metabolism dysfunction 3) ABCA4 (Stargardt disease 1, Retinitis pigmentosa 19) ABCA12 (Harlequin-type ichthyosis, Lamellar ichthyosis 2)

ABCB	ABCB4 (Progressive familial intrahepatic cholestasis 3) ABCB7 (ASAT) ABCB11 (Progressive familial intrahepatic cholestasis 2)

ABCC	ABCC2 (Dubin–Johnson syndrome) ABCC6 (Pseudoxanthoma elasticum) ABCC7 (Cystic fibrosis) ABCC8 (HHF1, TNDM2) ABCC9 (Dilated cardiomyopathy 1O)

ABCD	ABCD1 (Adrenoleukodystrophy, Adrenomyeloneuropathy)

ABCG	ABCG5 (Sitosterolemia) ABCG8 (Gallbladder disease 4, Sitosterolemia)

see also ABC transporters

Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains

1.2	Feingold syndrome Saethre–Chotzen syndrome

1.3	Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	(Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis

2.2	Barakat syndrome Tricho–rhino–phalangeal syndrome

2.3	Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2

2.5	Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 Synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome

3.2	PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3

3.3	FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX

3.5	IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	Hyperimmunoglobulin E syndrome

4.3	Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome

4.7	Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome

4.11	Cleidocranial dysostosis

(0) Other transcription factors

0.6	Kabuki syndrome

Ungrouped

Transcription coregulators

Coactivator:	CREBBP Rubinstein–Taybi syndrome

Corepressor:	HR (Atrichia with papular lesions)

Diseases of ion channels

Calcium channel

Voltage-gated	CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4

Ligand gated	RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2

Sodium channel

Voltage-gated	SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain

Constitutively active	SCNN1B/SCNN1G Liddle's syndrome SCNN1A/SCNN1B/SCNN1G Pseudohypoaldosteronism 1AR

Potassium channel

Voltage-gated	KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1

Inward-rectifier	KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome) KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2

Chloride channel

TRP channel

TRPC6
- FSGS2
TRPML1
- Mucolipidosis type IV

Connexin

Porin

AQP2
- Nephrogenic diabetes insipidus 2

See also: ion channels

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