ORPHA:99885
Isolated permanent neonatal diabetes mellitus
Synonyms: Isolated PNDM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated permanent neonatal diabetes mellitus | Isolated PNDM |
| fr | Diabète néonatal permanent isolé | DNP isolé |
| de | Diabetes mellitus, isolierter neonataler permanenter | PNDM, isolierter |
| es | Diabetes mellitus neonatal permanente aislada | DMNP aislada |
| it | Diabete mellito neonatale isolato permanente | PNDM isolato |
| nl | Geïsoleerde permanente neonatale diabetes mellitus | Geïsoleerde PNDM |
| pt | Diabetes mellitus neonatal permanente isolado | |
| pl | Utrwalona cukrzyca noworodkowa | Monogenowa cukrzyca noworodkowa · PNDM |
| cs | Permanentní novorozenecký diabetes mellitus | PNDM · Monogenní diabetes dětského věku |
| uk | Ізольований перманентний неонатальний цукровий діабет | Ізольований PNDM · Моногенний діабет немовлят |
| zh | 永久新生儿糖尿病 | 婴儿单基因糖尿病 |
| tr | Yenidoğanın kalıcı diabetes mellitusu | PNDM · Bebeklik döneminde monojenik diyabet |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606176 | E | validated | |
| OMIM | 618856 | BTNT | validated | |
| OMIM | 618857 | BTNT | validated | |
| OMIM | 618858 | BTNT | validated | |
| ICD-10 | P70.2 | NTBT | attributed | validated |
| ICD-11 | KB60.2Y | NTBT | index | validated |
| MONDO | 0100164 | E | validated | |
| MeSH | C563425 | E | validated | |
| UMLS | C1833104 | E | validated | |
| GARD | 10457 | 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:224Neonatal diabetes mellitus
rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11364 | ENSG00000168610 | 102582 | 17q21.2 | signal transducer and activator of transcription 3 | 28073828[PMID] |
| 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]_20301620[PMID] |
| GCK | Disease-causing germline mutation(s) in | Assessed | HGNC:4195 | ENSG00000106633 | 138079 | 7p13 | glucokinase | 21844708[PMID]_22498247[PMID]_20301620[PMID] |
| INS | Disease-causing germline mutation(s) in | Assessed | HGNC:6081 | ENSG00000254647 | 176730 | 11p15.5 | insulin | 21844708[PMID]_22498247[PMID]_20301620[PMID]_23245869[PMID]_23107109[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]_20301620[PMID]_24150202[PMID]_24468099[PMID] |
| PDX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6107 | ENSG00000139515 | 600733 | 13q12.2 | pancreatic and duodenal homeobox 1 | 20301620[PMID]_22498247[PMID] |
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Europe | Value and class | Validated | 19499210[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | 19499210[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | United Kingdom | Value and class | Validated | 19499210[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Poland | Value and class | Validated | 19499210[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Netherlands | Value and class | Validated | 19499210[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 / 100 000 | Slovakia | Value and class | Validated | 17213273[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | United States | Value and class | Validated | 23050777[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 18 / 100 000 | Oman | Value and class | Validated | 10798084[PMID] |
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
35 annotations · validated 2015-12-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001944 | Dehydration | |
| HP:0001508 | Failure to thrive | |
| HP:0003076 | Glycosuria | |
| HP:0003074 | Hyperglycemia | |
| HP:0011106 | Hypovolemia | |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus | |
| HP:0006274 | Reduced pancreatic beta cells | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001488 | Bilateral ptosis | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002919 | Ketonuria | |
| HP:0005750 | Lower-limb joint contracture | |
| HP:0012594 | Microalbuminuria | |
| HP:0001270 | Motor delay | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000488 | Retinopathy | |
| Occasional (29-5%) | ||
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0002186 | Apraxia | |
| HP:0001251 | Ataxia | |
| HP:0001259 | Coma | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002594 | Pancreatic hypoplasia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000124 | Renal tubular dysfunction | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 16885549[PMID]_15448107[PMID]_26231457[PMID]_15115830[PMID]_20938745[PMID]_7637748[PMID]_20301706 [PMID]_17349054[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99885
- This record as JSON: /data/d/99885.json