Yunis-varon syndrome

Preferred Label : Yunis-varon syndrome;

Symbol : YVS;

CISMeF acronym : YVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FIG4 phosphoinositide 5-phosphatase gene (FIG4, 609390.0009);

Laboratory abnormalities : Enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue;

Prefixed ID : #216340;

Details

Origin ID

216340;

UMLS CUI

C1857663;

Automatic exact mappings (from CISMeF team)
- FIG4 wt Allele [NCIt concept]
- Yunis-Varon disease [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Yunis Varon syndrome [MeSH concept]
- Yunis-Varon syndrome [DO Concept]
- Yunis-Varon syndrome [ORDO Disease]
- yunis varon syndrome [MeSH Supplementary Concept]
DO Cross reference
- Yunis-Varon syndrome [DO Concept]
Genes related to phenotype
- Fig4 phosphoinositide 5-phosphatase [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Abnormality of calvarial morphology [HPO term]
- Absent fingernail [HPO term]
- Absent hallux [HPO term]
- Absent middle phalanx of 2nd finger [HPO term]
- Absent nipple [HPO term]
- Absent sternal ossification [HPO term]
- Absent thumb [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anonychia [HPO term]
- Anterior concavity of thoracic vertebrae [HPO term]
- Anteverted nares [HPO term]
- Aplasia of the distal phalanx of the 2nd finger [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the hallux [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the nails [HPO term]
- Aplastic clavicle [HPO term]
- Arrhinencephaly [HPO term]
- Aspiration pneumonia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Broad alveolar ridges [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Clinodactyly [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital onset [HPO term]
- Craniofacial disproportion [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Cutaneous syndactyly [HPO term]
- Decreased calvarial ossification [HPO term]
- Decreased skull ossification [HPO term]
- Delayed ossification of pubic rami [HPO term]
- Dolichocephaly [HPO term]
- Down-sloping shoulders [HPO term]
- Dysplastic ears [HPO term]
- Epicanthus [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties [HPO term]
- Flat acetabular roof [HPO term]
- Flat occiput [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Heart murmur [HPO term]
- High palate [HPO term]
- High-pitched cry [HPO term]
- Hip dislocation [HPO term]
- Hydrops fetalis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the frontal lobes [HPO term]
- Hypoplastic clavicles [HPO term]
- Hypoplastic facial bones [HPO term]
- Hypoplastic nipples [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Irritability [HPO term]
- Kyphosis [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Pachygyria [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Parietal bossing [HPO term]
- Patent foramen ovale [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Premature loss of primary teeth [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent antihelix [HPO term]
- Proptosis [HPO term]
- Protruding ear [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pyloric stenosis [HPO term]
- Redundant neck skin [HPO term]
- Sclerocornea [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe failure to thrive [HPO term]
- Severe global developmental delay [HPO term]
- Severe postnatal failure to thrive [HPO term]
- Short 2nd finger [HPO term]
- Short clavicles [HPO term]
- Short distal phalanx of finger [HPO term]
- Short finger [HPO term]
- Short metatarsal [HPO term]
- Short philtrum [HPO term]
- Short tapering fingers [HPO term]
- Short thumb [HPO term]
- Short toe [HPO term]
- Short upper lip [HPO term]
- Short, tapering toes [HPO term]
- Single transverse palmar crease [HPO term]
- Small earlobe [HPO term]
- Small for gestational age [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyebrows and eyelashes [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Tapered finger [HPO term]
- Tapered toe [HPO term]
- Tetralogy of Fallot [HPO term]
- Thin lips [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide cranial sutures [HPO term]
ORDO concept(s)
- Yunis-Varon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Yunis Varon syndrome [MeSH concept]
- Yunis Varon syndrome [MedDRA LLT]
- Yunis-Varon syndrome [ORDO Disease]
- Yunis-Varon syndrome [DO Concept]
- yunis varon syndrome [MeSH Supplementary Concept]

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