ORPHA:452
X-linked lissencephaly with abnormal genitalia
Synonyms: X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome · XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked lissencephaly with abnormal genitalia | X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome · XLAG (X-linked lissencephaly with abnormal genitalia) syndrome |
| fr | Lissencéphalie liée à l'X avec anomalies génitales | Lissencéphalie liée à l'X avec ambiguïtés génitales · Syndrome XLAG (Lissencéphalie liée à l'X avec anomalies génitales) · Syndrome de lissencéphalie liée à l'X-agénésie du corps calleux-anomalies génitales |
| de | X-chromosomale Lissenzephalie mit Genitalanomalien | Lissenzephalie, X-chromosomale - Corpus-callosum-Agenesie - Genitalanomalien · XLAG-Syndrom |
| es | Lisencefalia ligada al cromosoma X con anomalías genitales | Lisencefalia ligada al cromosoma X con genitales ambiguos · Lisencefalia ligada al cromosoma X-agenesia del cuerpo calloso-anomalías genitales · Síndrome XLAG (lisencefalia ligada al cromosoma X con anomalías genitales) |
| it | Lissencefalia legata all'X con genitali ambigui | Lissencefalia legata all'X - agenesia del corpo calloso - anomalie genitali · Lissencefalia legata all'X con ambiguità genitale · Sindrome XLAG (lissencefalia legata all'X con genitali ambigui) |
| nl | X-gebonden lissencefalie met abnormale genitaliën | X-gebonden lissencefalie - agenesie van het corpus callosum - genitale anomalieën-syndroom · X-gebonden lissencefalie met ambigue genitaliën · XLAG (X-gebonden lissencefalie met abnormale genitaliën)-syndroom |
| pt | Lisencefalia ligada ao X com anomalias genitais | Lisencefalia ligada ao X-agenesia do corpo caloso-anomalias genitais |
| pl | Lizencefalia sprzężona z chromosomem X z nieprawidłowymi narządami płciowymi | Lizencefalia sprzężona z chromosomem X - agnezja ciała modzelowatego - anomalie narządów płciowych · Lizencefalia sprzężona z chromosomem X z obojnaczymi narządami płciowymi · Zespół XLAG (Lizencefalia sprzężona z chromosomem X z nieprawidłowymi narządami płciowymi) |
| cs | X-vázaná lisencefalie s abnormálními genitáliemi | Syndrom zahrnující X-vázanou lisencefalii, agenezi corpus callosum a anomálie genitálu · XLAG (X-vázaná lisencefalie s abnormálními genitáliemi) syndrom · X-vázaná lisencefalie s nejednoznačnými genitáliemi |
| uk | Х-зчеплена ліссенцефалія з аномальними геніталіями | Синдром XLAG (Х-зчеплена ліссенцефалія з аномальними геніталіями) · Х-зчеплена ліссенцефалія з неоднозначними геніталіями · Х-зчеплений синдром агенезії ліссенцефалії-генезії мозолистого тіла-генітальних аномалій |
| zh | X连锁无脑回畸形伴外生殖器畸形 | X-连锁无脑回畸形-胼胝体发育迟缓-生殖器异常综合征 |
| tr | Anormal genital ile seyreden X'e bağlı lizensefali | Belirsiz cinsel organla ile seyreden X'e bağlı lizensefali · XLAG (anormal genital yapıya sahip X'e bağlı lizensefali) sendromu · X'e bağlı lizensefali-korpus kallozum agenezisi-genital anomaliler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300215 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0010268 | E | validated | |
| MeSH | C564563 | E | validated | |
| UMLS | C1846171 | E | validated | |
| GARD | 12491 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:423655ARX-related encephalopathy-brain malformation spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare urogenital diseases - ORPHA:102010Other syndrome with lissencephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18060 | ENSG00000004848 | 300382 | Xp21.3 | aristaless related homeobox | 12379852[PMID]_12874405[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | 17480217[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_17480217[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.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001302 | Pachygyria | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0001522 | Death in infancy | |
| HP:0000966 | Hypohidrosis | |
| HP:0001252 | Hypotonia | |
| HP:0002024 | Malabsorption | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0000347 | Micrognathia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011220 | Prominent forehead | |
| HP:0001257 | Spasticity | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/452
- This record as JSON: /data/d/452.json