ORPHA:391408
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | |
| fr | Syndrome de microcéphalie primaire-déficience intellectuelle modérée-diabète juvénile | |
| de | Primäre Mikrozephalie-milde Intelligenzminderung-früh beginnender Diabetes-Syndrom | |
| es | Síndrome de microcefalia primaria-discapacidad intelectual leve-diabetes de inicio juvenil | |
| it | Sindrome microcefalia primitiva-disabilità intellettiva lieve-diabete ad esordio giovanile | |
| nl | Primaire microcefalie - milde intellectuele achterstand - vroeg beginnende diabetes-syndroom | |
| pt | Síndrome de microcefalia primária-perturbação do desenvolvimento intelectual ligeira-diabetes com início precoce | |
| pl | Zespół małogłowie pierwotne-łagodna niepełnosprawność intelektualna-cukrzyca o początku w wieku młodzieńczym | |
| cs | Syndrom zahrnující primární mikrocefalii, mírnou mentální retardaci a diabetes s nástupem v mládí | |
| uk | Синдром первинної мікроцефалії-легкої розумової відсталості-діабету в молодому віці | |
| zh | 原发性小头畸形-轻度智力障碍-青年起病糖尿病综合征 | |
| tr | Primer mikrosefali-hafif zihinsel yetersizlik-genç-başlangıçlı diyabet sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616033 | BTNT | validated | |
| OMIM | 616817 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018320 | E | validated | |
| UMLS | C5190597 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:181376Rare diabetes mellitus type 2
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPP1R15B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14951 | ENSG00000158615 | 613257 | 1q32.1 | protein phosphatase 1 regulatory subunit 15B | 26159176[PMID]_26307080[PMID] |
| TRMT10A | Disease-causing germline mutation(s) in | Assessed | HGNC:28403 | ENSG00000145331 | 616013 | 4q23 | tRNA methyltransferase 10A | 24204302[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 25053765[PMID]_26159176[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25053765[PMID]_26159176[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
67 annotations · validated 2019-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0011451 | Primary microcephaly | |
| HP:0003508 | Proportionate short stature | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0004325 | Decreased body weight | |
| HP:0000823 | Delayed puberty | |
| HP:0001263 | Global developmental delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002465 | Poor speech | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000463 | Anteverted nares | |
| HP:0008936 | Axial hypotonia | |
| HP:0000592 | Blue sclerae | |
| HP:0001348 | Brisk reflexes | |
| HP:0002136 | Broad-based gait | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0030084 | Clinodactyly | |
| HP:0012448 | Delayed myelination | |
| HP:0010344 | Deviation of the 5th toe | |
| HP:0002460 | Distal muscle weakness | |
| HP:0025383 | Dorsocervical fat pad | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0002213 | Fine hair | |
| HP:0000293 | Full cheeks | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000601 | Hypotelorism | |
| HP:0000821 | Hypothyroidism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001382 | Joint hypermobility | |
| HP:0001946 | Ketosis | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000343 | Long philtrum | |
| HP:0000294 | Low anterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0000341 | Narrow forehead | |
| HP:0000160 | Narrow mouth | |
| HP:0000677 | Oligodontia | |
| HP:0000767 | Pectus excavatum | |
| HP:0008081 | Pes valgus | |
| HP:0000311 | Round face | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0007258 | Severe demyelination of the white matter | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0001238 | Slender finger | |
| HP:0011308 | Slender toe | |
| HP:0000274 | Small face | |
| HP:0008070 | Sparse hair | |
| HP:0002313 | Spastic paraparesis | |
| HP:0000664 | Synophrys | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000445 | Wide nose | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26307080[PMID]_26159176[PMID]_26297882[PMID]_26526202[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391408
- This record as JSON: /data/d/391408.json