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Retinopathy - anemia- central nervous system anomalies
1 OMIM reference -
1 associated gene
31 connected diseases
15 signs/symptoms
Disease Type of connection
Dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome
B-cell chronic lymphocytic leukemia
Autosomal dominant childhood-onset cortical cataract
Baraitser-Winter syndrome
Cerebellar ataxia - hypogonadism
Cone rod dystrophy
Developmental malformations - deafness - dystonia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Familial cortical myoclonus
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Hemolytic anemia due to adenylate kinase deficiency
Hypermethioninemia due to glycine N-methyltransferase deficiency
Infantile Refsum disease
Leber congenital amaurosis
Leukocyte adhesion deficiency type III
Lissencephaly type 1 due to doublecortin gene mutation
Muscular dystrophy, Selcen type
Neonatal adrenoleukodystrophy
Omenn syndrome
PGM-CDG
Retinitis pigmentosa
Severe combined immunodeficiency due to adenosine deaminase deficiency
Subcortical band heterotopia
Williams syndrome
Young adult-onset Parkinsonism
Zellweger syndrome
Synonym(s):
- Revesz-DeBuse syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TINF2 Q9BSI4604319
Very frequent
- Anaemia
- Anomalies of tongue, gingiva and oral mucosa
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Fine hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intrauterine growth retardation
- Microcephaly
- Nails anomalies
- Platelets shape anomalies
- Polynuclear cells / neutrophils anomalies / neutropenia
- Prematurity
- Purpura / petichiae
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Thrombocytopenia / thrombopenia