YVS
MCID: YNS002
MIFTS: 50

Yunis-Varon Syndrome (YVS)

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

Aliases & Classifications for Yunis-Varon Syndrome

MalaCards integrated aliases for Yunis-Varon Syndrome:

Name: Yunis-Varon Syndrome 57 12 73 20 58 72 36 29 6 15
Yunis Varon Syndrome 20 44 39 70
Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia 57 12 72
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome 12 58
Yvs 57 72
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia 20
Yunis-Varón Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
yunis-varon syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy in majority of patients


HPO:

31
yunis-varon syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Yunis-Varon Syndrome

GARD : 20 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 tooth disease and peripheral nervous system 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 bone, heart 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® : 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) (Updated 20-May-2021)

KEGG : 36 Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and missense mutations of FIG4 in affected individuals from unrelated families have been identified. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy.

UniProtKB/Swiss-Prot : 72 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 : 73 Yunis-Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or 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:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.3 SBF2 MTMR2 GDAP1 FIG4
2 peripheral nervous system disease 30.0 SBF2 MTMR2 GDAP1 FIG4
3 neuropathy, congenital hypomyelinating, 1, autosomal recessive 29.9 VAC14 SBF2 PIKFYVE MTMR2 GDAP1 FIG4
4 charcot-marie-tooth disease 29.3 VAC14 SYNJ1 SBF2 PIKFYVE MTMR2 MCOLN1
5 charcot-marie-tooth disease, type 4j 29.1 VAC14 SYNJ1 SBF2 PIKFYVE MTMR2 MCOLN1
6 restrictive dermopathy, lethal 11.3
7 autosomal recessive disease 10.5
8 microcephaly 10.4
9 cleidocranial dysplasia 10.3
10 cleft lip 10.3
11 cleidocranial dysplasia spectrum disorder 10.3
12 cleft lip/palate 10.3
13 early-onset glaucoma 10.2 SBF2 MTMR2
14 striatonigral degeneration 10.2 VAC14 PIKFYVE FIG4
15 tetralogy of fallot 10.2
16 ataxia and polyneuropathy, adult-onset 10.2
17 parkinsonism 10.2
18 ventricular septal defect 10.2
19 myopathy 10.2
20 polyhydramnios 10.2
21 neuropathy 10.2
22 hypotonia 10.2
23 spasticity 10.2
24 amyotrophic lateral sclerosis 1 10.2
25 hypertelorism 10.2
26 hydrops fetalis, nonimmune 10.2
27 lymphatic malformation 7 10.2
28 pulmonary hypertension 10.2
29 hydrocephalus 10.2
30 dilated cardiomyopathy 10.2
31 dysostosis 10.2
32 lateral sclerosis 10.2
33 lysosomal storage disease 10.2
34 hypotrichosis 10.2
35 metatarsus adductus 10.2
36 mucolipidosis 10.2 TPCN2 PIKFYVE MCOLN1
37 myopathy, centronuclear, x-linked 10.1 SBF2 PIKFYVE MTMR2
38 charcot-marie-tooth disease, x-linked dominant, 1 10.1 MTMR2 GDAP1 FIG4
39 charcot-marie-tooth disease, dominant intermediate e 10.1 SBF2 MTMR2 GDAP1
40 charcot-marie-tooth disease, axonal, type 2j 10.1 SBF2 MTMR2 GDAP1
41 developmental and epileptic encephalopathy 53 10.1 SYNJ1 FIG4
42 charcot-marie-tooth disease intermediate type 10.1 SBF2 MTMR2 GDAP1
43 charcot-marie-tooth disease, demyelinating, type 1f 10.1 SBF2 MTMR2 GDAP1
44 centronuclear myopathy 10.1 SBF2 PIKFYVE MTMR2 FIG4
45 mucolipidosis iv 10.1 VAC14 TPCN2 PIKFYVE MCOLN1
46 charcot-marie-tooth disease, dominant intermediate b 10.1 SBF2 MTMR2 GDAP1
47 parkinson disease 20, early-onset 10.1 SYNJ1 FIG4
48 charcot-marie-tooth disease, type 4a 10.0 SBF2 MTMR2 GDAP1
49 charcot-marie-tooth disease, demyelinating, type 1a 10.0 SBF2 MTMR2 GDAP1
50 charcot-marie-tooth disease, demyelinating, type 1d 10.0 MTMR2 GDAP1

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



Diseases related to Yunis-Varon Syndrome

Symptoms & Phenotypes for Yunis-Varon Syndrome

Human phenotypes related to Yunis-Varon Syndrome:

58 31 (show top 50) (show all 110)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia of the distal phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009881
2 aplasia of the distal phalanx of the hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010102
3 short proximal phalanx of hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010107
4 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
11 metatarsus adductus 58 31 frequent (33%) Frequent (79-30%) HP:0001840
12 aplasia/hypoplasia of the nipples 58 31 frequent (33%) Frequent (79-30%) HP:0006709
13 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
16 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
17 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
18 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
19 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
20 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
21 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
22 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
23 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
24 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
25 arrhinencephaly 58 31 frequent (33%) Frequent (79-30%) HP:0002139
26 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
27 sclerocornea 58 31 frequent (33%) Frequent (79-30%) HP:0000647
28 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
29 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
30 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
31 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
32 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
33 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0000954
34 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
35 decreased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004331
36 sparse eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045075
37 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
38 generalized neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008935
39 absent thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009777
40 short middle phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0005819
41 aplasia of the 1st metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010035
42 redundant neck skin 58 31 frequent (33%) Frequent (79-30%) HP:0005989
43 premature loss of primary teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006323
44 aplasia/hypoplasia of the nails 58 31 frequent (33%) Frequent (79-30%) HP:0008386
45 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
46 abnormality of the occipital bone 58 31 frequent (33%) Frequent (79-30%) HP:0012294
47 short chin 58 31 frequent (33%) Frequent (79-30%) HP:0000331
48 shortening of all distal phalanges of the toes 58 31 frequent (33%) Frequent (79-30%) HP:0005793
49 neuronal loss in central nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0002529
50 aplasia/hypoplasia of the clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0006710

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
pachygyria
hypotonia
frontal lobe atrophy
severe developmental delay in survivors
more
Head And Neck Head:
microcephaly
dolichocephaly
enlarged fontanels

Prenatal Manifestations:
hydrops fetalis

Head And Neck Face:
micrognathia
short philtrum

Genitourinary External Genitalia Male:
micropenis
hypospadias

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

Skeletal Pelvis:
hip dislocation
flattened acetabula
iliac hypoplasia

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 Eyes:
hypertelorism
sclerocornea
cataracts
upslanting palpebral fissures
protruding eyes
more
Head And Neck Nose:
anteverted nares

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

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:
short upper lip
broad secondary alveolar ridge
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Yunis-Varon Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 FIG4 GDAP1 MCOLN1 MTMR2 OSTM1 PI4KA
2 mortality/aging MP:0010768 9.73 FIG4 INPP5B MCOLN1 MTMR2 OSTM1 PI4KA
3 nervous system MP:0003631 9.32 FIG4 GDAP1 MCOLN1 MTMR2 PIKFYVE SBF2

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:

40
Bone, Heart, Eye, Brain, Liver

Publications for Yunis-Varon Syndrome

Articles related to Yunis-Varon Syndrome:

(show all 35)
# Title Authors PMID Year
1
Yunis-Varon syndrome with severe osteodysplasty. 61 57 6
2319578 1990
2
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 57 6
23623387 2013
3
New ocular findings in two sisters with Yunis-Varón syndrome and literature review. 57 6
20932945 2011
4
Generalized lysosomal storage in Yunis Varón syndrome. 57 6
7496176 1995
5
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity. 57 61
22044576 2012
6
Yunis-Varon syndrome: further delineation of the phenotype. 57 61
18203163 2008
7
Yunis-Varon syndrome: evidence for a lysosomal storage disease. 61 57
11078567 2000
8
Yunis-Varon syndrome: the first case of German origin. 61 57
8818450 1996
9
Further delineation of the Yunis-Varon syndrome. 57 61
2918527 1989
10
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 57
17572665 2007
11
Congenital heart malformation in Yunis-Varón syndrome. 57
8411078 1993
12
Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation. 57
3265308 1988
13
Brief clinical report: the syndrome of Yunis and Varón--report of a further case. 57
6859104 1983
14
Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome. 57
7395825 1980
15
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders. 61
33422100 2021
16
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. 61
31591492 2019
17
Yunis-Varon Syndrome. 61
31094135 2019
18
Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development. 61
26708557 2016
19
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function. 61
26662798 2016
20
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. 61
26604144 2016
21
Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells. 61
25926456 2015
22
Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. 61
24610892 2014
23
Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. 61
24359958 2014
24
Novel FIG4 mutations in Yunis-Varon syndrome. 61
24088667 2013
25
[The Yunis-Varon syndrome]. 61
23264967 2012
26
[Yunis-Varon syndrome: a case report]. 61
22367312 2012
27
Yunis Varon syndrome. 61
16816498 2006
28
Yunis-Varon syndrome. 61
15876600 2005
29
A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. 61
14755473 2004
30
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. 61
11446410 2001
31
[Yunis-Varon syndrome]. 61
11529050 2001
32
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 61
10706363 2000
33
Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome. 61
10478891 1999
34
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. 61
10463294 1998
35
Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome. 61
1533447 1992

Variations for Yunis-Varon Syndrome

ClinVar genetic disease variations for Yunis-Varon Syndrome:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIG4 NM_014845.5(FIG4):c.1260_1261del (p.Thr422fs) Deletion Pathogenic 50993 rs397509394 GRCh37: 6:110081575-110081576
GRCh38: 6:109760372-109760373
2 FIG4 NM_014845.5(FIG4):c.311G>A (p.Gly104Asp) SNV Pathogenic 50994 rs397509395 GRCh37: 6:110048333-110048333
GRCh38: 6:109727130-109727130
3 FIG4 NM_014845.5(FIG4):c.831_838del (p.Lys278fs) Deletion Pathogenic 50995 rs786200937 GRCh37: 6:110062701-110062708
GRCh38: 6:109741498-109741505
4 FIG4 NM_014845.5(FIG4):c.524T>C (p.Leu175Pro) SNV Pathogenic 50996 rs397514707 GRCh37: 6:110056379-110056379
GRCh38: 6:109735176-109735176
5 FIG4 NM_014845.5(FIG4):c.294del (p.Phe98fs) Deletion Pathogenic 1722 rs1562648373 GRCh37: 6:110048313-110048313
GRCh38: 6:109727110-109727110
6 FIG4 NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) SNV Pathogenic 447336 rs745790694 GRCh37: 6:110117975-110117975
GRCh38: 6:109796772-109796772
7 FIG4 NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) SNV Pathogenic 420149 rs776005417 GRCh37: 6:110059618-110059618
GRCh38: 6:109738415-109738415
8 FIG4 NM_014845.5(FIG4):c.290-2A>G SNV Pathogenic 638361 rs587777715 GRCh37: 6:110048310-110048310
GRCh38: 6:109727107-109727107
9 FIG4 NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) SNV Uncertain significance 800748 rs1583671246 GRCh37: 6:110064404-110064404
GRCh38: 6:109743201-109743201
10 FIG4 NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) SNV Uncertain significance 407085 rs764799053 GRCh37: 6:110107651-110107651
GRCh38: 6:109786448-109786448
11 FIG4 NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) SNV Uncertain significance 1721 rs121908287 GRCh37: 6:110036336-110036336
GRCh38: 6:109715133-109715133
12 FIG4 NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys) SNV Uncertain significance 662216 rs754970037 GRCh37: 6:110146457-110146457
GRCh38: 6:109825254-109825254
13 FIG4 NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) SNV Uncertain significance 930472 GRCh37: 6:110107574-110107574
GRCh38: 6:109786371-109786371
14 FIG4 NM_014845.5(FIG4):c.2096G>A (p.Arg699His) SNV Uncertain significance 355043 rs750091928 GRCh37: 6:110107652-110107652
GRCh38: 6:109786449-109786449
15 FIG4 NM_014845.6(FIG4):c.1751-16A>G SNV Uncertain significance 930721 GRCh37: 6:110098109-110098109
GRCh38: 6:109776906-109776906
16 VAC14 NM_018052.5(VAC14):c.1895C>T (p.Thr632Met) SNV Uncertain significance 397535 rs1060499667 GRCh37: 16:70731102-70731102
GRCh38: 16:70697199-70697199
17 VAC14 NM_018052.5(VAC14):c.923T>A (p.Leu308Ter) SNV Uncertain significance 397536 rs769608639 GRCh37: 16:70815795-70815795
GRCh38: 16:70781892-70781892
18 FIG4 NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) SNV Uncertain significance 407082 rs138048706 GRCh37: 6:110062705-110062705
GRCh38: 6:109741502-109741502

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

72
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Gly104Asp VAR_070051 rs397509395
2 FIG4 p.Leu175Pro VAR_070052 rs397514707

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
12.37 VAC14 SYNJ1 PIKFYVE PI4KA MTMR2 FIG4
2
Show member pathways
12 SYNJ1 PIKFYVE PI4KA MTMR2 INPP5B FIG4
3
Show member pathways
11.36 VAC14 SYNJ1 PIKFYVE PI4KA MTMR2 FIG4
4 10.56 SYNJ1 INPP5B

GO Terms for Yunis-Varon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.85 VAC14 PIKFYVE MTMR2 MCOLN1 FIG4 FAM241B
2 lysosome GO:0005764 9.76 WDR45B TPCN2 OSTM1 MCOLN1
3 late endosome membrane GO:0031902 9.56 VAC14 PIKFYVE MCOLN1 FIG4
4 early endosome membrane GO:0031901 9.55 VAC14 PIKFYVE MTMR2 INPP5B FIG4
5 phagocytic vesicle membrane GO:0030670 9.5 PIKFYVE MCOLN1 INPP5B
6 endosome membrane GO:0010008 9.5 VAC14 TPCN2 SBF2 PIKFYVE MTMR2 MCOLN1
7 vesicle membrane GO:0012506 9.43 SYNJ1 PIKFYVE
8 vacuolar membrane GO:0005774 9.4 SBF2 MTMR2
9 endosome GO:0005768 9.28 VAC14 SBF2 PIKFYVE MTMR2 MCOLN1 INPP5B

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

# Name GO ID Score Top Affiliating Genes
1 inositol phosphate dephosphorylation GO:0046855 9.5 SYNJ1 MTMR2 INPP5B
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.46 PIKFYVE FIG4
3 phosphatidylinositol dephosphorylation GO:0046856 9.46 SYNJ1 MTMR2 INPP5B FIG4
4 phagosome maturation GO:0090382 9.43 PIKFYVE MCOLN1
5 myelin assembly GO:0032288 9.43 PIKFYVE MTMR2 FIG4
6 negative regulation of myelination GO:0031642 9.4 MTMR2 FIG4
7 receptor-mediated endocytosis of virus by host cell GO:0019065 9.37 TPCN2 PIKFYVE
8 phosphatidylinositol metabolic process GO:0046488 9.26 SYNJ1 PIKFYVE MTMR2 FIG4
9 phosphatidylinositol biosynthetic process GO:0006661 9.1 VAC14 SYNJ1 PIKFYVE PI4KA MTMR2 FIG4

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

# Name GO ID Score Top Affiliating Genes
1 polysaccharide binding GO:0030247 9.43 CLEC18C CLEC18A
2 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.4 SYNJ1 INPP5B
3 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.37 SYNJ1 INPP5B
4 phosphoric ester hydrolase activity GO:0042578 9.32 SYNJ1 FIG4
5 NAADP-sensitive calcium-release channel activity GO:0072345 9.26 TPCN2 MCOLN1
6 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.16 SYNJ1 FIG4
7 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 8.96 PIKFYVE FIG4
8 phosphatidylinositol-3-phosphatase activity GO:0004438 8.8 SYNJ1 MTMR2 FIG4

Sources for Yunis-Varon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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