KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Synonyms: Alkuraya-Kucinskas syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in <i>KIAA1109</i> gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support,epilepsy, syndactlyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome | Alkuraya-Kucinskas syndrome |
| fr | Syndrome de malformations cérébrales congénitales létales-arthrogrypose lié à KIAA1109 | Syndrome de Alkuraya-Kucinskas |
| de | KIAA1109-assoziierte früh-letale kongenitale Hirnfehlbildungen-Arthrogrypose-Syndrom | Alkuraya-Kucinskas-Syndrom |
| es | Síndrome de malformaciones cerebrales letales tempranas congénitas-artrogriposis asociado a KIAA1109 | Síndrome de Alkuraya-Kucinskas |
| it | Sindrome malformazioni cerebrali congenite precocemente letali-artrogriposi correlata a KIAA1109 | Sindrome di Alkuraya-Kucinskas |
| nl | KIAA1109-gerelateerd vroeg-letale congenitale hersenmalformaties - artrogrypose-syndroom | Syndroom van Alkuraya-Kucinskas |
| pt | Síndrome de malformação cerebral congénita precoce letal-artrogripose KIAA1109-relacionada | Síndrome Alkuraya-Kucinskas |
| pl | Związany z KIAA1109 zespół wczesnych letalnych wad mózgu-artrogrypozy | Zespół wczesnych letalnych wrodzonych wad rozwojowych mózgu i artrogrypozy związany z KIAA1109 |
| cs | Syndrom zahrnující časné letální vrozené malformace mozku související s KIAA1109 a artrogrypózu | = en |
| uk | KIAA1109-повязаний ранній летальний синдром вроджених вад розвитку головного мозку - артрогрипозу | Синдром Алкурая-Кучинскаса |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617822 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0060631 | E | validated | |
| UMLS | C4693347 | 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:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BLTP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26953 | ENSG00000138688 | 611565 | 4q27 | bridge-like lipid transfer protein family member 1 | 29290337[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 29290337[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29290337[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/610569
- This record as JSON: /data/d/610569.json