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LIG4 syndrome
1 OMIM reference -
1 associated gene
85 connected diseases
34 signs/symptoms
Disease Type of connection
Omenn syndrome
MELAS syndrome
Maternally-inherited Leigh syndrome
Leber hereditary optic neuropathy
Isolated cytochrome C oxidase deficiency
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Genetic recurrent myoglobinuria
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Bilateral generalized polymicrogyria
Cernunnos-XLF deficiency
Microcephaly - seizures - developmental delay
Severe combined immunodeficiency due to DNA-PKcs deficiency
Alström syndrome
Cardiofaciocutaneous syndrome
Charcot-Marie-Tooth disease type 4G
Congenital sialidosis type 2
Juvenile sialidosis type 2
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Sialidosis type 1
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive primary microcephaly
B-cell chronic lymphocytic leukemia
Baraitser-Winter syndrome
Blackfan-Diamond anemia
CLN10 disease
Chronic intestinal pseudoobstruction
Combined cervical dystonia
Cone rod dystrophy
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Frontometaphyseal dysplasia
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
High bone mass osteogenesis imperfecta
Idiopathic CD4 lymphocytopenia
Idiopathic hypereosinophilic syndrome
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Infantile Refsum disease
Infantile osteopetrosis with neuroaxonal dysplasia
Leber 'plus' disease
MERRF syndrome
MMEP syndrome
Male infertility with normal virilization due to meiosis defect
Mantle cell lymphoma
Meckel syndrome
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial nonsyndromic sensorineural deafness
Neonatal adrenoleukodystrophy
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Osteodysplasty, Melnick-Needles type
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Papillary or follicular thyroid carcinoma
Periventricular nodular heterotopia
Primary hyperoxaluria type 2
Pycnodysostosis
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Seckel syndrome
Sporadic Leigh syndrome
Terminal osseous dysplasia - pigmentary defects
Triose phosphate-isomerase deficiency
Zellweger syndrome
Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LIG4 P49917601837
Very frequent
- Autosomal recessive inheritance
- Chromosome breakage
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Microcephaly

Frequent
- Acute leukemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Bone marrow failure / pancytopenia
- Brachycephaly / flat occiput
- Broad nasal root
- Epicanthic folds
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Low hair line-front
- Lymphoma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow forehead
- Skin photosensitivity
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anomalies of bones / skeletal anomalies
- Clinodactyly of fifth finger
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperleukocytosis / leukocytosis
- Hypothyroidy
- Insulin-independent / type 2 diabetes
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Micropenis / small penis / agenesis
- Severe combined immune deficiency syndrome / SCID
- Telangiectasiae of the skin
- Undescended / ectopic testes / cryptorchidia / unfixed testes