STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | |
| fr | Syndrome de déficience intellectuelle-dysmorphie faciale-reflux gastro-oesophagien associé à STAG1 | |
| de | Intelligenzminderung-Gesichtsdysmorphie-gastroösophagealer Reflux-Syndrom, STAG1-assoziiert | |
| es | Síndrome de discapacidad intelectual-dismorfia facial-reflujo gastroesofágico asociado a STAG1 | |
| it | Sindrome disabilità intellettiva - dismorfismi facciali - reflusso gastroesofageo correlata a STAG1 | |
| nl | STAG1-gerelateerde intellectuele achterstand - faciale dysmorfie - gastro-oesofageale reflux-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-refluxo gastroesofágico STAG1-relacionado | |
| pl | Zespół niepełnosprawności intelektualnej, dysmorfii twarzy i refluksu żołądkowo-przełykowego związany z STAG1 | |
| cs | STAG1-vázaný syndrom zahrnující mentální retardaci, faciální dysmorfismus a gastroezofageální reflux | |
| uk | STAG1-повязаний синдром інтелектуальної недостатності-дисморфізму обличчя-гастроезофагеального рефлюксу | |
| zh | STAG1基因相关智力障碍-面部畸形-胃食管反流综合征 | |
| tr | STAG1-ilişkili zihinsel yetersizlik-fasiyal dismorfizm-gastroözofageal reflü sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617635 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0030912 | E | validated | |
| UMLS | C5568769 | 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 (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11354 | ENSG00000118007 | 604358 | 3q22.3 | STAG1 cohesin complex component | 28119487[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 28119487[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28119487[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.
HPO phenotypes
38 annotations · validated 2020-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000490 | Deeply set eye | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0000028 | Cryptorchidism | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001250 | Seizure | |
| HP:0045074 | Thin eyebrow | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0012444 | Brain atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000965 | Cutis marmorata | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0001508 | Failure to thrive | |
| HP:0000218 | High palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000050 | Hypoplastic male external genitalia | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001377 | Limited elbow extension | |
| HP:0000527 | Long eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0001566 | Widely-spaced maxillary central incisors | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28119487[PMID]_30158690[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502434
- This record as JSON: /data/d/502434.json