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Sialidosis type 1
1 OMIM reference -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
LIG4 syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
Sialidosis type 1
LIG4 syndrome

NEU1
(UniProt - OMIM)
 LIG4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NEU1
(0.72)
LIG4


Citations in the biomedical literature:


Sialidosis type 1
NEU1
LIG4 syndrome
LIG4



Sialidosis type 1
LIG4 syndrome

Synonym(s):
- Cherry-red spot-myoclonus syndrome
- Lipomucopolysaccharidosis
- Normomorphic sialidosis
- Syndrome "cherry-red spot-myoclonus"
Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Broad nasal root
- Intellectual deficit / mental / psychomotor retardation / learning disability

Sialidosis type 1
LIG4 syndrome

Very frequent
- Abnormal gait
- Aminoacid metabolism anomalies / aminoaciduria
- Ataxia / incoordination / trouble of the equilibrium
- Coarse face
- Corneal clouding / opacity / vascularisation
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lipidosis / sulfatidosis
- Macular pigmentary anomaly / cherry-red spot
- Mild visual loss / impaired visual acuity
- Movement disorder
- Nystagmus
- Pectus carinatum
- Retinopathy
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly
- Storage liver disease
- Thick lips
- Vascular anomalies of skin / mucosae
- Visual loss / blindness / amblyopia

Frequent
- Abnormal vertebral size / shape
- Central neuropathy
- EEG anomalies
- Frontal bossing / prominent forehead
- Herniae
- Hypotonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Nerve conduction abnormality
- Tremor

Occasional
- Cataract / lens opacification
- Kyphosis


Very frequent
- 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
- Epicanthic folds
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- 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