ORPHA:99812
LIG4 syndrome
Synonyms: DNA ligase IV syndrome · SCID with macrocephaly due to DNA ligase IV deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LIG4 syndrome | DNA ligase IV syndrome · SCID with macrocephaly due to DNA ligase IV deficiency |
| fr | Syndrome LIG4 | Immunodéficience combinée sévère par déficit en DNA ligase IV |
| de | LIG4-Syndrom | SCID mit Makrozephalie durch DNA-Ligase-IV-Mangel · DNA-Ligase IV-Mangel · Ligase 4-Syndrom |
| es | Síndrome LIG4 | IDCG con macrocefalia por deficiencia de ADN ligasa IV · SCID con macrocefalia por deficiencia de ADN ligasa IV · Síndrome de ADN ligasa IV |
| it | Sindrome LIG4 | SCID con microcefalia da deficit di DNA ligasi IV · Sindrome della ligasi 4 |
| nl | LIG4-syndroom | Ernstige gecombineerde immuundeficiëntie met macrocefalie door deficiëntie van DNA ligase IV · DNA ligase IV-syndroom · SCID met macrocefalie door deficiëntie van DNA ligase IV |
| pt | Síndrome LIG4 | |
| pl | Zespół LIG4 | Niedobór ligazy DNA IV · Zespół ligazy 4 |
| cs | LIG4 syndrom | Deficit DNA ligázy IV · Ligáza 4 syndrom |
| uk | Синдром LIG4 | Дефіцит ДНК-лігази IV · Синдром лігази 4 |
| zh | LIG4综合征 | DNA连接酶IV缺陷 |
| tr | LIG4 sendromu | Ligaz 4 sendromu · DNA ligaz IV eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606593 | E | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0011686 | E | validated | |
| MeSH | C564694 | E | validated | |
| UMLS | C1847827 | 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 (4):
- 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 - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:720308T-B-NK+ severe combined immunodeficiency with microcephaly
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIG4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6601 | ENSG00000174405 | 601837 | 13q33.3 | DNA ligase 4 | 23372718[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 27717373[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27717373[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
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003220 | Abnormality of chromosome stability | |
| HP:0000320 | Bird-like facies | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002721 | Immunodeficiency | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0002488 | Acute leukemia | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000248 | Brachycephaly | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000286 | Epicanthus | |
| HP:0010783 | Erythema | |
| HP:0001249 | Intellectual disability | |
| HP:0000294 | Low anterior hairline | |
| HP:0002665 | Lymphoma | |
| HP:0000347 | Micrognathia | |
| HP:0001876 | Pancytopenia | |
| HP:0004430 | Severe combined immunodeficiency | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0002240 | Hepatomegaly | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000821 | Hypothyroidism | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 16088910[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99812
- This record as JSON: /data/d/99812.json