Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Synonyms: Autosomal recessive intellectual disability due to TRAPPC9 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | Autosomal recessive intellectual disability due to TRAPPC9 deficiency |
| fr | Syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale | Déficience intellectuelle autosomique récessive par déficit en TRAPPC9 |
| de | Intelligenzminderung-Adipositas-Hirnfehlbildungen-Gesichtsdysmorphie-Syndrom | Intelligenzminderung, autosomal-rezessive, durch TRAPPC9-Mangel |
| es | Síndrome de discapacidad intelectual-obesidad-malformaciones cerebrales-dismorfia facial | Discapacidad intelectual autosómica recesiva por deficiencia de TRAPPC9 |
| it | Sindrome disabilità intellettiva-obesità -malformazioni cerebrali-dismorfismi facciali | Deficit cognitivo autosomico recessivo da deficit di TRAPPC9 |
| nl | Intellectuele achterstand - obesitas - hersenmalformaties - faciale dysmorfie-syndroom | Autosomaal recessieve intellectuele achterstand door TRAPPC9-deficiëntie |
| pt | Síndrome de perturbação do desenvolvimento intelectual-obesidade-malformações cerebrais-dismorfia facial | Perturbação do desenvolvimento intelectual devido a deficiência de TRAPPC9 autossómica recessiva |
| pl | Niepełnosprawność intelektualna - otyłość - malformacje mózgu - dysmorfia twarzy | Autosomalna recesywna niepełnosprawność intelektualna z powodu niedoboru TRAPPC9 |
| cs | Syndrom zahrnující mentální retardaci, obezitu, vývojové vady mozku a faciální dysmorfismus | Autozomálně recesivní mentální retardace způsobená deficitem TRAPPC9 |
| uk | Синдром інтелектуальної недостатності-ожиріння-вад розвитку головного мозку-дисморфізму обличчя | Аутосомно-рецесивна розумова відсталість внаслідок дефіциту TRAPPC9 |
| zh | 智力障碍-肥胖-脑畸形-面部畸形综合征 | TRAPPC9基因缺陷所致常染色体隐性遗传智力障碍 |
| tr | Zihinsel yetersizlik-obezite-beyin malformasyonları-yüz dismorfizm sendromu | TRAPPC9 eksikliğine bağlı otozomal çekinik zihinsel yetersizlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613192 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0018123 | E | validated | |
| UMLS | C4706414 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRAPPC9 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30832 | ENSG00000167632 | 611966 | 8q24.3 | trafficking protein particle complex subunit 9 | 22549410[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22549410[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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.
HPO phenotypes
31 annotations · validated 2016-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000248 | Brachycephaly | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002265 | Large fleshy ears | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0000252 | Microcephaly | |
| HP:0007052 | Multifocal cerebral white matter abnormalities | |
| HP:0000341 | Narrow forehead | |
| HP:0001513 | Obesity | |
| HP:0000311 | Round face | |
| HP:0000664 | Synophrys | |
| HP:0001182 | Tapered finger | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000286 | Epicanthus | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20004765[PMID]_22549410[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352530
- This record as JSON: /data/d/352530.json