Yunis-Varon Syndrome

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OMIM 57 216340 Disease Ontology 12 DOID:0060589 ICD10 33 Q87.8 MeSH 44 C536719 D002973 D008844 D017880 more Orphanet 59 ORPHA3472 UMLS via Orphanet 74 C1857663

ICD10 via Orphanet 34 Q87.8 MESH via Orphanet 45 C536719 MedGen 42 C1857663 SNOMED-CT via HPO 69 258211005 204878001 204888000 34911001 289469003 3639002 301348000 230745008 276709006 271611007 72239002 194021007 22006008 699439001 32958008 103276001 15188001 343087000 95828007 95515009 708670007 298390003 40052002 128306009 193570009 247053007 18265008 246799009 249696007 93250003 248409006 373413006 249768009 224958001 5102002 23024003 16026008 199612005 22033007 86203003 282020008 367494004 49550006 253549006 30288003 253366007 405752007 70142008 86299006 57809008 85898001 8186001 32113001 276508000 205082007 205359003 77599005 191124002 34093004 282664001 302233006 367403001 11399002 697898008 70995007 248820000 157265008 237836003 253980008 122483006 39034005 80212005 249765007 268855009 4356008 123799005 more UMLS 73 C1857663

NIH Rare Diseases : ⁵³ Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Yunis-Varon Syndrome, also known as yunis varon syndrome, is related to hepatitis and lysosomal storage disease. An important gene associated with Yunis-Varon Syndrome is FIG4 (FIG4 Phosphoinositide 5-Phosphatase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Affiliated tissues include heart, bone and brain, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : ¹² A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has material basis in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.

OMIM : ⁵⁷ Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013). (216340)

UniProtKB/Swiss-Prot : ⁷⁵ Yunis-Varon syndrome: A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy.

Wikipedia : ⁷⁶ Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia, absent thumbs and... more...

Clinical features from OMIM:

216340

Search Clinical Trials , NIH Clinical Center for Yunis-Varon Syndrome

Search GEO for disease gene expression data for Yunis-Varon Syndrome.