Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | |
| fr | Syndrome létal foetal d'agénésie/hypoplasie cérébro-réno-génito-urinaire | |
| de | Letales fetales zerebro-reno-urogenitales Agenesie/Hypoplasie-Syndrom | |
| es | Síndrome de agenesia/hipoplasia cerebrorrenogenitourinaria fetal letal | |
| it | Sindrome fetale letale da agenesia/ipoplasia cerebro-reno-urogenitale | |
| nl | Letale foetale cerebrale-renale-urogenitale agenesie/hypoplasie-syndroom | |
| pt | Síndrome fetal cerebral fatal renal - hipoplasia / agenesia geniturinária | |
| pl | Śmiertelny zespół agnezji lub hipoplazji mózgowo-nerkowo-płciowo-moczowej płodu | |
| cs | Syndrom fetálně letální cerebrorenogenitourinární ageneze/hypoplázie | |
| uk | Летальний внутрішньоутробний синдром цереброреногенітоуринарної агенезії/гіпоплазії плода | |
| zh | 致命性胎儿脑肾泌尿生殖道发育不全/发育不全综合征 | |
| tr | Letal fetal serebrorenogenitoüriner agenezi/hipoplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616258 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014552 | E | validated | |
| UMLS | C4015701 | 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 (7):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF14 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19181 | ENSG00000118193 | 611279 | 1q32.1 | kinesin family member 14 | 24128419[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24128419[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24128419[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439897
- This record as JSON: /data/d/439897.json