QRICH1-related intellectual disability-chondrodysplasia 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 the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | QRICH1-related intellectual disability-chondrodysplasia syndrome | |
| fr | Syndrome de déficience intellectuelle-chondrodysplasie associé à QRICH1 | |
| de | Intelligenzminderung-Chondrodysplasie-Syndrom, QRICH1-assoziiert | |
| es | Síndrome de discapacidad intelectual-condrodisplasia asociado a QRICH1 | |
| it | Sindrome da disabilità intellettiva e condrodisplasia correlata a QRICH1 | |
| nl | QRICH1-gerelateerd intellectuele achterstand - chondrodysplasie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-condrodisplasia QRICH1-relacionada | |
| pl | Zespół niepełnosprawności intelektualnej i chondrodysplazji związany z QRICH1 | |
| cs | Syndrom zahrnující mentální postižení a chondrodysplázii související s QRICH1 | |
| uk | Інтелектуальна недостатність-хондродисплазія, повязані з QRICH1 | |
| zh | QRICH1基因相关智力障碍-软骨发育不良综合征 | |
| tr | QRICH1-ilişkili zihinsel yetersizlik-kondrodisplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617982 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0060707 | E | validated | |
| MONDO | 60707 | E | validated | |
| UMLS | C4693824 | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 |
|---|---|---|---|---|---|---|---|---|
| QRICH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24713 | ENSG00000198218 | 617387 | 3p21.31 | glutamine rich 1 | 28692176[PMID]_30281152[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 28692176[PMID]_30281152[PMID]_33009816[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28692176[PMID]_30281152[PMID]_33009816[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/580940
- This record as JSON: /data/d/580940.json