ORPHA:99886
Transient neonatal diabetes mellitus
Synonyms: TNDM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient neonatal diabetes mellitus | TNDM |
| fr | Diabète néonatal transitoire | DNT |
| de | Diabetes mellitus, neonataler transienter | = en |
| es | Diabetes mellitus neonatal transitoria | = en |
| it | Diabete mellito neonatale transitorio | = en |
| nl | Transiënte neonatale diabetes mellitus | = en |
| pt | Diabetes mellitus neonatal transitória | = en |
| pl | Przemijająca cukrzyca noworodkowa | = en |
| cs | Tranzientní novorozenecký diabetes mellitus | = en |
| uk | Транзиторний неонатальний цукровий діабет | = en |
| zh | 新生儿短暂性糖尿病 | = en |
| tr | Yenidoğanın geçici diabetes mellitusu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601410 | E | validated | |
| OMIM | 610374 | BTNT | validated | |
| OMIM | 610582 | BTNT | validated | |
| ICD-10 | P70.2 | NTBT | attributed | validated |
| ICD-11 | KB60.20 | E | specific | validated |
| UMLS | C0342273 | E | validated | |
| GARD | 1839 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:224Neonatal diabetes mellitus
rare genetic diseases; rare endocrine diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC8 | Disease-causing germline mutation(s) in | Assessed | HGNC:59 | ENSG00000006071 | 600509 | 11p15.1 | ATP binding cassette subfamily C member 8 | 21844708[PMID]_22498247[PMID]_21738553[PMID] |
| HYMAI | Disease-causing germline mutation(s) in | Assessed | HGNC:5326 | ENSG00000283122 | 606546 | 6q24.2 | hydatidiform mole associated and imprinted | 20301706[PMID]_21844708[PMID]_20803656[PMID] |
| KCNJ11 | Disease-causing germline mutation(s) in | Assessed | HGNC:6257 | ENSG00000187486 | 600937 | 11p15.1 | potassium inwardly rectifying channel subfamily J member 11 | 21844708[PMID]_22498247[PMID]_21352428[PMID] |
| PLAGL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9046 | ENSG00000118495 | 603044 | 6q24.2 | PLAG1 like zinc finger 1 | 20301706[PMID]_21844708[PMID]_20803656[PMID] |
| ZFP57 | Disease-causing germline mutation(s) in | Assessed | HGNC:18791 | ENSG00000204644 | 612192 | 6p22.1 | ZFP57 zinc finger protein | 20301706[PMID]_22498247[PMID]_23150280[PMID]_23499433[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
23 annotations · validated 2020-09-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001944 | Dehydration | |
| HP:0003074 | Hyperglycemia | |
| HP:0040216 | Hypoinsulinemia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0000158 | Macroglossia | |
| HP:0004904 | Maturity-onset diabetes of the young | |
| HP:0008255 | Transient neonatal diabetes mellitus | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001508 | Failure to thrive | |
| HP:0000365 | Hearing impairment | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0009800 | Maternal diabetes | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0001953 | Diabetic ketoacidosis | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301706[PMID]_29662264[PMID]_27809389[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99886
- This record as JSON: /data/d/99886.json