ODCs

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3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
34 signs/symptoms

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

LIG4 syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HNRNPA1 HNRNPA2B1	(0.72) (0.63)	LIG4 LIG4

Citations in the biomedical literature:

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		LIG4 syndrome
	Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome		Synonym(s): - DNA ligase IV deficiency - Ligase 4 syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

LIG4 syndrome
	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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)