Yunis-Varon Syndrome (YVS)

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Disease Ontology 12 DOID:0060589 OMIM 58 216340 KEGG 38 H02127 MeSH 45 C536719 D002973 D008844 D017880 more MESH via Orphanet 46 C536719 ICD10 via Orphanet 35 Q87.8

UMLS via Orphanet 75 C1857663 Orphanet 60 ORPHA3472 MedGen 43 C1857663 SNOMED-CT via HPO 70 103276001 11399002 122483006 123799005 128306009 15188001 157265008 16026008 18265008 191124002 193570009 194021007 199612005 204878001 204888000 205082007 205359003 22006008 22033007 224958001 23024003 230745008 237836003 246799009 247053007 248409006 248820000 249696007 249765007 249768009 253366007 253549006 253980008 258211005 268855009 271611007 276508000 276709006 282020008 282664001 289469003 298390003 301348000 302233006 30288003 32113001 32958008 34093004 343087000 34911001 3639002 367403001 367494004 373413006 39034005 40052002 405752007 4356008 49550006 5102002 57809008 62211000119103 697898008 699439001 70142008 708670007 70995007 72239002 77599005 80212005 8186001 85898001 86203003 86299006 93250003 95515009 95828007 more UMLS 74 C1857663

NIH Rare Diseases : ⁵⁴ 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 pulmonary hypertension 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 MHC class II antigen presentation. Affiliated tissues include brain, skin and eye, and related phenotypes are aplasia of the distal phalanges of the hand and aplasia of the distal phalanx of the hallux

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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ 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.