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Otopalatodigital syndrome type 2

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
34 signs/symptoms

Otopalatodigital syndrome type 2

LIG4 syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.63)	LIG4

Citations in the biomedical literature:

Otopalatodigital syndrome type 2		LIG4 syndrome
	Synonym(s): (no synonyms)		Synonym(s): - DNA ligase IV deficiency - Ligase 4 syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: x-linked 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: 1 OMIM reference - 1 MeSH reference: C538089		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism

Otopalatodigital syndrome type 2		LIG4 syndrome
	Very frequent - Anodontia / oligodontia / hypodontia - Bowed diaphysis / diaphyses / long bones - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax - Prominent supraorbital ridge - Short big toe - Thumb hypoplasia / aplasia / absence - X-linked recessive inheritance Frequent - Anomalies of spine, vertebrae and pelvis - Camptodactyly of fingers - Cardiac septal defect - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Frontal sinus agenesis / anomaly - Glossoptosis - Hydrocephaly - Hypospadias / epispadias / bent penis - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Omphalocele / exomphalos - Osteosclerosis / osteopetrosis / bone condensation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Short hand / brachydactyly - Vertebral segmentation anomaly / hemivertebrae Occasional - Carpal bones fusion / synostosis - Encephalocele / exencephaly - Myelomeningocele - Preaxial polydactyly of toes / big toe duplication - Scoliosis - Tarsal anomaly / fusion / synostosis		Very frequent - Autosomal recessive inheritance - Chromosome breakage - 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 - Long / large / bulbous nose - Low hair line-front - Lymphoma - 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