MCID: YNS002
MIFTS: 48

Yunis-Varon Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Yunis-Varon Syndrome

MalaCards integrated aliases for Yunis-Varon Syndrome:

Name: Yunis-Varon Syndrome 57 12 53 59 75 15 53
Yunis Varon Syndrome 53 29 6 44 40 73
Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia 57 12 75
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome 12 59
Yvs 57 75
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia 53

Characteristics:

Orphanet epidemiological data:

59
yunis-varon syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy in majority of patients


HPO:

32
yunis-varon syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Yunis-Varon Syndrome

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...

Related Diseases for Yunis-Varon Syndrome

Diseases related to Yunis-Varon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatitis 10.2
2 lysosomal storage disease 10.2
3 cleft lip 10.2
4 cleft lip/palate 10.2
5 congenital anomalies of kidney and urinary tract 2 9.9
6 bladder neck obstruction 9.9
7 charcot-marie-tooth disease, type 4j 9.2 FIG4 PIKFYVE VAC14
8 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 8.9 FIG4 PIKFYVE SACM1L VAC14

Graphical network of the top 20 diseases related to Yunis-Varon Syndrome:



Diseases related to Yunis-Varon Syndrome

Symptoms & Phenotypes for Yunis-Varon Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
sclerocornea
cataracts
upslanting palpebral fissures
protruding eyes
more
Neurologic Central Nervous System:
agenesis of corpus callosum
pachygyria
hypotonia
frontal lobe atrophy
severe developmental delay in survivors
more
Head And Neck Nose:
anteverted nares

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Cardiovascular Heart:
cardiomyopathy
tetralogy of fallot
ventricular septal defect
congenital heart defect

Genitourinary External Genitalia Male:
hypospadias
micropenis

Skin Nails Hair Hair:
sparse scalp hair
sparse eyebrows and eyelashes

Skeletal Skull:
decreased skull ossification
hypoplastic facial bones
widened sutures

Skeletal Feet:
syndactyly
aplastic/hypoplastic distal phalanges
aplastic/hypoplastic halluces
short, tapering toes
aplastic/hypoplastic first metatarsal

Chest Ribs Sternum Clavicles And Scapulae:
absent sternal ossification
hypoplastic clavicles
absent clavicles
abnormal scapula

Growth Other:
prenatal growth retardation
severe postnatal failure to thrive

Cardiovascular Vascular:
primary pulmonary hypertension

Head And Neck Neck:
loose nuchal skin

Hematology:
vacuolated macrophages

Laboratory Abnormalities:
enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue

Head And Neck Ears:
low-set ears
hearing loss
dysplastic ears
hypoplastic ear lobes

Head And Neck Head:
microcephaly
dolichocephaly
enlarged fontanels

Head And Neck Face:
micrognathia
short philtrum

Prenatal Manifestations:
hydrops fetalis

Skeletal Pelvis:
hip dislocation
flattened acetabula
iliac hypoplasia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
pyloric stenosis
weak sucking

Skeletal Hands:
syndactyly
transverse palmar creases
aplastic/hypoplastic thumbs
short, tapering fingers
aplastic/hypoplastic middle phalanges
more
Head And Neck Mouth:
broad secondary alveolar ridge
short upper lip
thin lips
labiogingival retraction
narrow-arched palate

Chest Breasts:
absent nipples

Skin Nails Hair Skin:
transverse palmar creases

Head And Neck Teeth:
premature loss of deciduous teeth
cystic dental follicles

Skin Nails Hair Nails:
nail aplasia/hypoplasia

Prenatal Manifestations Delivery:
preterm delivery


Clinical features from OMIM:

216340

Human phenotypes related to Yunis-Varon Syndrome:

59 32 (show top 50) (show all 110)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 cardiomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001640
11 glossoptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000162
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 pulmonary arterial hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0002092
14 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
15 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
17 metatarsus adductus 59 32 frequent (33%) Frequent (79-30%) HP:0001840
18 aplasia/hypoplasia of the nipples 59 32 frequent (33%) Frequent (79-30%) HP:0006709
19 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
20 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
21 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
22 short toe 59 32 Frequent (79-30%) HP:0001831
23 cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001638
24 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
25 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
26 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
27 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
28 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
29 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
30 tetralogy of fallot 59 32 very rare (1%) Very rare (<4-1%) HP:0001636
31 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
32 arrhinencephaly 59 32 frequent (33%) Frequent (79-30%) HP:0002139
33 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
34 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
35 increased nuchal translucency 59 32 occasional (7.5%) Occasional (29-5%) HP:0010880
36 renovascular hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0100817
37 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
38 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
39 severe failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001525
40 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
41 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
42 short finger 59 32 Frequent (79-30%) HP:0009381
43 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
44 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
45 hypoplastic labia majora 59 32 occasional (7.5%) Occasional (29-5%) HP:0000059
46 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
47 single transverse palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0000954
48 decreased skull ossification 59 32 frequent (33%) Frequent (79-30%) HP:0004331
49 rocker bottom foot 59 32 frequent (33%) Frequent (79-30%) HP:0001838
50 sparse eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0045075

MGI Mouse Phenotypes related to Yunis-Varon Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 DNM1 ENO2 FIG4 MCOLN1 PIKFYVE VAC14
2 cardiovascular system MP:0005385 9.55 DNM1 FIG4 MCOLN1 PIKFYVE VAC14
3 mortality/aging MP:0010768 9.5 DNM1 FIG4 MCOLN1 PIKFYVE RAB7A SACM1L
4 nervous system MP:0003631 9.1 DNM1 ENO2 FIG4 MCOLN1 PIKFYVE VAC14

Drugs & Therapeutics for Yunis-Varon Syndrome

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

Cochrane evidence based reviews: yunis varon syndrome

Genetic Tests for Yunis-Varon Syndrome

Genetic tests related to Yunis-Varon Syndrome:

# Genetic test Affiliating Genes
1 Yunis Varon Syndrome 29 FIG4

Anatomical Context for Yunis-Varon Syndrome

MalaCards organs/tissues related to Yunis-Varon Syndrome:

41
Heart, Bone, Brain, Skin, Eye, Liver

Publications for Yunis-Varon Syndrome

Articles related to Yunis-Varon Syndrome:

(show all 12)
# Title Authors Year
1
Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. ( 24610892 )
2014
2
Novel FIG4 mutations in Yunis-Varon syndrome. ( 24088667 )
2013
3
Yunis-Varon syndrome: further delineation of the phenotype. ( 18203163 )
2008
4
Yunis Varon syndrome. ( 16816498 )
2006
5
Yunis-Varon syndrome. ( 15876600 )
2005
6
A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. ( 14755473 )
2004
7
Yunis-Varon syndrome: evidence for a lysosomal storage disease. ( 11078567 )
2000
8
Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome. ( 10478891 )
1999
9
Yunis-Varon syndrome: the first case of German origin. ( 8818450 )
1996
10
Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome. ( 1533447 )
1992
11
Yunis-Varon syndrome with severe osteodysplasty. ( 2319578 )
1990
12
Further delineation of the Yunis-Varon syndrome. ( 2918527 )
1989

Variations for Yunis-Varon Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Yunis-Varon Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Gly104Asp VAR_070051 rs397509395
2 FIG4 p.Leu175Pro VAR_070052 rs397514707

ClinVar genetic disease variations for Yunis-Varon Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FIG4 NM_014845.5(FIG4): c.1260_1261delGT (p.Thr422Glnfs) deletion Pathogenic rs397509394 GRCh37 Chromosome 6, 110081575: 110081576
2 FIG4 NM_014845.5(FIG4): c.1260_1261delGT (p.Thr422Glnfs) deletion Pathogenic rs397509394 GRCh38 Chromosome 6, 109760372: 109760373
3 FIG4 NM_014845.5(FIG4): c.311G> A (p.Gly104Asp) single nucleotide variant Pathogenic rs397509395 GRCh37 Chromosome 6, 110048333: 110048333
4 FIG4 NM_014845.5(FIG4): c.311G> A (p.Gly104Asp) single nucleotide variant Pathogenic rs397509395 GRCh38 Chromosome 6, 109727130: 109727130
5 FIG4 NM_014845.5(FIG4): c.831_838delTAAATTTG (p.Lys278Trpfs) deletion Pathogenic rs786200937 GRCh37 Chromosome 6, 110062702: 110062709
6 FIG4 NM_014845.5(FIG4): c.831_838delTAAATTTG (p.Lys278Trpfs) deletion Pathogenic rs786200937 GRCh38 Chromosome 6, 109741499: 109741506
7 FIG4 NM_014845.5(FIG4): c.524T> C (p.Leu175Pro) single nucleotide variant Pathogenic rs397514707 GRCh37 Chromosome 6, 110056379: 110056379
8 FIG4 NM_014845.5(FIG4): c.524T> C (p.Leu175Pro) single nucleotide variant Pathogenic rs397514707 GRCh38 Chromosome 6, 109735176: 109735176
9 VAC14 NM_018052.3(VAC14): c.1895C> T (p.Thr632Met) single nucleotide variant Uncertain significance rs1060499667 GRCh38 Chromosome 16, 70697199: 70697199
10 VAC14 NM_018052.3(VAC14): c.1895C> T (p.Thr632Met) single nucleotide variant Uncertain significance rs1060499667 GRCh37 Chromosome 16, 70731102: 70731102
11 VAC14 NM_018052.3(VAC14): c.923T> A (p.Leu308Ter) single nucleotide variant Uncertain significance rs769608639 GRCh38 Chromosome 16, 70781892: 70781892
12 VAC14 NM_018052.3(VAC14): c.923T> A (p.Leu308Ter) single nucleotide variant Uncertain significance rs769608639 GRCh37 Chromosome 16, 70815795: 70815795

Expression for Yunis-Varon Syndrome

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

Pathways for Yunis-Varon Syndrome

Pathways related to Yunis-Varon Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 FIG4 PIKFYVE SACM1L VAC14
2
Show member pathways
11.93 FIG4 PIKFYVE SACM1L
3 11.27 DNM1 RAB7A
4
Show member pathways
11.19 FIG4 PIKFYVE SACM1L VAC14

GO Terms for Yunis-Varon Syndrome

Cellular components related to Yunis-Varon Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.81 DNM1 FIG4 RAB7A SACM1L
2 cytoplasmic vesicle GO:0031410 9.67 DNM1 MCOLN1 PIKFYVE RAB7A
3 Golgi membrane GO:0000139 9.62 FIG4 PIKFYVE SACM1L VAC14
4 endosome GO:0005768 9.55 FIG4 MCOLN1 PIKFYVE RAB7A VAC14
5 lipid droplet GO:0005811 9.49 FIG4 RAB7A
6 phagocytic vesicle membrane GO:0030670 9.48 MCOLN1 RAB7A
7 photoreceptor inner segment GO:0001917 9.43 DNM1 ENO2
8 early endosome membrane GO:0031901 9.43 FIG4 PIKFYVE VAC14
9 vacuolar membrane GO:0005774 9.4 RAB7A VAC14
10 endosome membrane GO:0010008 9.35 FIG4 MCOLN1 PIKFYVE RAB7A VAC14
11 late endosome membrane GO:0031902 9.02 FIG4 MCOLN1 PIKFYVE RAB7A VAC14
12 membrane GO:0016020 10.06 DNM1 ENO2 FIG4 MCOLN1 PIKFYVE RAB7A

Biological processes related to Yunis-Varon Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retrograde transport, endosome to Golgi GO:0042147 9.32 PIKFYVE RAB7A
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.26 FIG4 PIKFYVE
3 phosphatidylinositol metabolic process GO:0046488 9.16 FIG4 PIKFYVE
4 myelin assembly GO:0032288 8.96 FIG4 PIKFYVE
5 phosphatidylinositol biosynthetic process GO:0006661 8.92 FIG4 PIKFYVE SACM1L VAC14

Molecular functions related to Yunis-Varon Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 9.32 FIG4 SACM1L
2 phosphoric ester hydrolase activity GO:0042578 9.26 FIG4 SACM1L
3 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.16 FIG4 PIKFYVE
4 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 8.96 FIG4 SACM1L
5 phosphatidylinositol bisphosphate phosphatase activity GO:0034593 8.62 FIG4 SACM1L

Sources for Yunis-Varon Syndrome

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