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YVS
MCID: YNS002
MIFTS: 52

Yunis-Varon Syndrome (YVS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Yunis-Varon Syndrome

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MalaCards integrated aliases for Yunis-Varon Syndrome:

Name: Yunis-Varon Syndrome 57 11 19 58 75 73 28 5 14 33
Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia 57 11 73
Yunis Varon Syndrome 19 43 71
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome 11 58
Yvs 57 73
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia 19
Yunis-Varón Syndrome 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death in infancy in majority of patients


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Yunis-Varon Syndrome

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Orphanet: 58 A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.

MalaCards based summary: Yunis-Varon Syndrome, also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, 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 Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include bone, heart and brain, and related phenotypes are aplasia of the distal phalanges of the hand and aplasia of the distal phalanx of the hallux

GARD: 19 Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms 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 in the FIG4 gene and is inherited in an autosomal recessive manner.

Disease Ontology: 11 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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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: 75 Yunis-Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and... more...
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Related Diseases for Yunis-Varon Syndrome

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.9 SBF2 MTMR2 IGHMBP2 FIG4
2 peripheral nervous system disease 30.3 SBF2 RNU4ATAC MTMR2 IGHMBP2 FIG4
3 neuropathy, congenital hypomyelinating, 1, autosomal recessive 30.1 VAC14 SYNJ1 SBF2 PIKFYVE MTMR2 IGHMBP2
4 charcot-marie-tooth disease 29.8 VAC14 SYNJ1 SBF2 PIKFYVE MTMR2 MCOLN1
5 charcot-marie-tooth disease, type 4j 29.7 VAC14 SYNJ2 SYNJ1 SBF2 PIKFYVE MTMR2
6 cleidocranial dysplasia 1 10.4
7 microcephaly 10.4
8 cleft lip 10.4
9 cleft lip/palate 10.4
10 syndromic x-linked intellectual disability hedera type 10.3 VAC14 FIG4
11 charcot-marie-tooth disease type x 10.3 MTMR2 FIG4
12 polymicrogyria, bilateral temporooccipital 10.3 WDR45B FIG4
13 developmental and epileptic encephalopathy 53 10.3 SYNJ1 FIG4
14 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.3 RNU4ATAC FIG4
15 charcot-marie-tooth disease, axonal, type 2j 10.3 SBF2 MTMR2
16 striatonigral degeneration 10.3 VAC14 PIKFYVE FIG4
17 parkinson disease 20, early-onset 10.3 SYNJ1 FIG4
18 charcot-marie-tooth disease, demyelinating, type 1d 10.3 SBF2 MTMR2
19 charcot-marie-tooth disease intermediate type 10.2 SBF2 MTMR2
20 neuropathy, hereditary motor and sensory, russe type 10.2 SBF2 MTMR2 FIG4
21 charcot-marie-tooth disease, demyelinating, type 4f 10.2 SBF2 MTMR2 FIG4
22 spinal muscular atrophy, distal, autosomal recessive, 1 10.2 MTMR2 IGHMBP2 FIG4
23 charcot-marie-tooth disease, demyelinating, type 1f 10.2 SBF2 MTMR2 FIG4
24 charcot-marie-tooth disease, demyelinating, type 1c 10.2 SBF2 MTMR2 FIG4
25 charcot-marie-tooth disease, demyelinating, type 1b 10.2 SBF2 MTMR2 FIG4
26 charcot-marie-tooth disease, type 4h 10.2 SBF2 MTMR2 FIG4
27 charcot-marie-tooth disease, type 4c 10.2 SBF2 MTMR2 FIG4
28 charcot-marie-tooth disease, axonal, type 2b 10.2 SBF2 MTMR2 FIG4
29 charcot-marie-tooth disease, dominant intermediate b 10.2 SBF2 MTMR2
30 neuropathy, hereditary, with liability to pressure palsies 10.2 SBF2 MTMR2 FIG4
31 charcot-marie-tooth disease, demyelinating, type 1a 10.2 SBF2 MTMR2 FIG4
32 charcot-marie-tooth disease, type 4d 10.2 SBF2 MTMR2
33 charcot-marie-tooth disease, axonal, type 2t 10.2 SBF2 IGHMBP2
34 hemifacial hyperplasia 10.2
35 tetralogy of fallot 10.2
36 nail disorder, nonsyndromic congenital, 4 10.2
37 glycogen storage disease ii 10.2
38 aceruloplasminemia 10.2
39 parkinsonism 10.2
40 ventricular septal defect 10.2
41 myopathy 10.2
42 polyhydramnios 10.2
43 neuropathy 10.2
44 hypotonia 10.2
45 spasticity 10.2
46 amyotrophic lateral sclerosis 1 10.2
47 hypertelorism 10.2
48 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
49 pulmonary hypertension, primary, 1 10.2
50 roussy-levy hereditary areflexic dystasia 10.2

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



Diseases related to Yunis-Varon Syndrome
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Symptoms & Phenotypes for Yunis-Varon Syndrome

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Human phenotypes related to Yunis-Varon Syndrome:

58 30 (show top 50) (show all 150)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia of the distal phalanges of the hand 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0009881
2 aplasia of the distal phalanx of the hallux 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010102
3 short proximal phalanx of hallux 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010107
4 agenesis of corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001274
5 cataract 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000518
6 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001263
7 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000316
8 anteverted nares 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000463
9 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
10 cardiomegaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001640
11 metatarsus adductus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001840
12 aplasia/hypoplasia of the nipples 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006709
13 postnatal growth retardation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008897
14 micrognathia 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000347
15 low-set ears 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000369
16 high, narrow palate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002705
17 dolichocephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000268
18 upslanted palpebral fissure 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000582
19 micropenis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000054
20 sparse scalp hair 58 30 Very rare (1%) Frequent (79-30%)
 HP:0002209
21 proptosis 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000520
22 hypospadias 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000047
23 short philtrum 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000322
24 ventricular septal defect 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001629
25 arrhinencephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002139
26 high forehead 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000348
27 sclerocornea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000647
28 thin vermilion border 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000233
29 pulmonary arterial hypertension 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002092
30 tapered finger 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001182
31 pachygyria 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001302
32 cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001638
33 single transverse palmar crease 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000954
34 rocker bottom foot 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001838
35 decreased skull ossification 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004331
36 sparse eyebrow 58 30 Very rare (1%) Frequent (79-30%)
 HP:0045075
37 sparse eyelashes 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000653
38 generalized neonatal hypotonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008935
39 absent thumb 58 30 Very rare (1%) Frequent (79-30%)
 HP:0009777
40 short middle phalanx of finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005819
41 aplasia of the 1st metacarpal 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010035
42 redundant neck skin 58 30 Very rare (1%) Frequent (79-30%)
 HP:0005989
43 premature loss of primary teeth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006323
44 aplasia/hypoplasia of the nails 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008386
45 syndactyly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001159
46 short chin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000331
47 shortening of all distal phalanges of the toes 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005793
48 neuronal loss in central nervous system 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002529
49 aplasia/hypoplasia of the clavicles 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006710
50 severe failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001525

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
agenesis of corpus callosum
hypotonia
pachygyria
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 08-Dec-2022)

MGI Mouse Phenotypes related to Yunis-Varon Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 EPG5 FIG4 IGHMBP2 MCOLN1 MTMR2 PIKFYVE
2 growth/size/body region MP:0005378 10 EPG5 FIG4 IGHMBP2 INPP5B MCOLN1 MTMR2
3 behavior/neurological MP:0005386 9.83 EPG5 FIG4 IGHMBP2 KCTD1 MCOLN1 MTMR2
4 mortality/aging MP:0010768 9.5 EPG5 FIG4 IGHMBP2 INPP5B KCTD1 MCOLN1
Sources

Drugs & Therapeutics for Yunis-Varon Syndrome

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

Cochrane evidence based reviews: yunis varon syndrome

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Genetic Tests for Yunis-Varon Syndrome

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Genetic tests related to Yunis-Varon Syndrome:

# Genetic test Affiliating Genes
1 Yunis-Varon Syndrome 28 FIG4
Sources

Anatomical Context for Yunis-Varon Syndrome

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Organs/tissues related to Yunis-Varon Syndrome:

MalaCards : Bone, Heart, Brain, Skin, Bone Marrow, Eye, Liver
ODiseA: Blood And Bone Marrow
Sources

Publications for Yunis-Varon Syndrome

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Articles related to Yunis-Varon Syndrome:

(show all 49)
# Title Authors PMID Year
1
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 62 57 5
23623387 2013
2
New ocular findings in two sisters with Yunis-Varón syndrome and literature review. 62 57 5
20932945 2011
3
Generalized lysosomal storage in Yunis Varón syndrome. 62 57 5
7496176 1995
4
Yunis-Varon syndrome with severe osteodysplasty. 62 57 5
2319578 1990
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. 62 57
22044576 2012
6
Yunis-Varon syndrome: further delineation of the phenotype. 62 57
18203163 2008
7
Yunis-Varon syndrome: evidence for a lysosomal storage disease. 62 57
11078567 2000
8
Yunis-Varon syndrome: the first case of German origin. 62 57
8818450 1996
9
Congenital heart malformation in Yunis-Varón syndrome. 62 57
8411078 1993
10
Further delineation of the Yunis-Varon syndrome. 62 57
2918527 1989
11
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 57
17572665 2007
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
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice. 62
36434903 2022
16
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects. 62
36340727 2022
17
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant. 62
34899148 2021
18
Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene. 62
33850086 2021
19
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders. 62
33422100 2021
20
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. 62
32385905 2020
21
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome. 62
32268254 2020
22
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. 62
31876398 2020
23
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. 62
31591492 2019
24
Cerebral hypomyelination associated with biallelic variants of FIG4. 62
30740813 2019
25
Yunis-Varon Syndrome. 62
31094135 2019
26
Protective role of the lipid phosphatase Fig4 in the adult nervous system. 62
29688489 2018
27
Yunis-Varón syndrome caused by biallelic VAC14 mutations. 62
28635952 2017
28
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. 62
27292112 2016
29
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. 62
26708557 2016
30
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function. 62
26662798 2016
31
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. 62
26604144 2016
32
Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells. 62
25926456 2015
33
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. 62
25187576 2015
34
Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. 62
24610892 2014
35
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 62
24598713 2014
36
Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. 62
24359958 2014
37
Yunis-Varón syndrome: the first report of two Iranian cases. 62
24658994 2014
38
Novel FIG4 mutations in Yunis-Varon syndrome. 62
24088667 2013
39
[The Yunis-Varon syndrome]. 62
23264967 2012
40
[Yunis-Varon syndrome: a case report]. 62
22367312 2012
41
Yunis Varon syndrome. 62
16816498 2006
42
Yunis-Varon syndrome. 62
15876600 2005
43
A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. 62
14755473 2004
44
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. 62
11446410 2001
45
[Yunis-Varon syndrome]. 62
11529050 2001
46
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 62
10706363 2000
47
Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome. 62
10478891 1999
48
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review. 62
10463294 1998
49
Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome. 62
1533447 1992
Sources

Variations for Yunis-Varon Syndrome

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ClinVar genetic disease variations for Yunis-Varon Syndrome:

5 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIG4 NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs) DEL Pathogenic
 50993 rs397509394 GRCh37: 6:110081575-110081576
GRCh38: 6:109760372-109760373
2 FIG4 NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) SNV Pathogenic
 50994 rs397509395 GRCh37: 6:110048333-110048333
GRCh38: 6:109727130-109727130
3 FIG4 NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) SNV Pathogenic
 50996 rs397514707 GRCh37: 6:110056379-110056379
GRCh38: 6:109735176-109735176
4 FIG4 NM_014845.6(FIG4):c.294del (p.Phe98fs) DEL Pathogenic
 1722 rs1562648373 GRCh37: 6:110048313-110048313
GRCh38: 6:109727110-109727110
5 FIG4 NM_014845.6(FIG4):c.290-2A>G SNV Pathogenic
 638361 rs587777715 GRCh37: 6:110048310-110048310
GRCh38: 6:109727107-109727107
6 FIG4 NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) SNV Pathogenic
 447336 rs745790694 GRCh37: 6:110117975-110117975
GRCh38: 6:109796772-109796772
7 FIG4 NM_014845.6(FIG4):c.831_838del (p.Lys278fs) DEL Pathogenic
 50995 rs786200937 GRCh37: 6:110062701-110062708
GRCh38: 6:109741498-109741505
8 FIG4 NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) SNV Pathogenic
 420149 rs776005417 GRCh37: 6:110059618-110059618
GRCh38: 6:109738415-109738415
9 FIG4 NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) SNV Conflicting Interpretations Of Pathogenicity
Not Provided
 1721 rs121908287 GRCh37: 6:110036336-110036336
GRCh38: 6:109715133-109715133
10 FIG4 NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) SNV Uncertain Significance
 407082 rs138048706 GRCh37: 6:110062705-110062705
GRCh38: 6:109741502-109741502
11 FIG4 NM_014845.6(FIG4):c.2096G>A (p.Arg699His) SNV Uncertain Significance
 355043 rs750091928 GRCh37: 6:110107652-110107652
GRCh38: 6:109786449-109786449
12 FIG4 NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) SNV Uncertain Significance
 407085 rs764799053 GRCh37: 6:110107651-110107651
GRCh38: 6:109786448-109786448
13 FIG4 NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) SNV Uncertain Significance
 930472 rs774499394 GRCh37: 6:110107574-110107574
GRCh38: 6:109786371-109786371
14 FIG4 NM_014845.6(FIG4):c.1751-16A>G SNV Uncertain Significance
 930721 rs200778905 GRCh37: 6:110098109-110098109
GRCh38: 6:109776906-109776906
15 FIG4 NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys) SNV Uncertain Significance
 662216 rs754970037 GRCh37: 6:110146457-110146457
GRCh38: 6:109825254-109825254
16 FIG4 NM_014845.6(FIG4):c.1583+1G>T SNV Uncertain Significance
 1236180 GRCh37: 6:110086365-110086365
GRCh38: 6:109765162-109765162
17 VAC14 NM_018052.5(VAC14):c.1895C>T (p.Thr632Met) SNV Uncertain Significance
 397535 rs1060499667 GRCh37: 16:70731102-70731102
GRCh38: 16:70697199-70697199
18 VAC14 NM_018052.5(VAC14):c.923T>A (p.Leu308Ter) SNV Uncertain Significance
 397536 rs769608639 GRCh37: 16:70815795-70815795
GRCh38: 16:70781892-70781892
19 FIG4 NM_014845.6(FIG4):c.968A>G (p.Gln323Arg) SNV Uncertain Significance
 800748 rs1583671246 GRCh37: 6:110064404-110064404
GRCh38: 6:109743201-109743201
20 FIG4 NM_014845.6(FIG4):c.1948+46C>A SNV Benign
 673596 rs9320315 GRCh37: 6:110106277-110106277
GRCh38: 6:109785074-109785074
21 FIG4 NM_014845.6(FIG4):c.446+32dup DUP Benign
 917314 rs11459279 GRCh37: 6:110048489-110048490
GRCh38: 6:109727286-109727287
22 FIG4 NM_014845.6(FIG4):c.1948+3A>G SNV Benign
 260447 rs10499054 GRCh37: 6:110106234-110106234
GRCh38: 6:109785031-109785031
23 FIG4 NM_014845.6(FIG4):c.2559G>A (p.Ser853=) SNV Benign
 260449 rs1127771 GRCh37: 6:110146303-110146303
GRCh38: 6:109825100-109825100
24 FIG4 NM_014845.6(FIG4):c.447-3dup DUP Benign
 694980 rs11377100 GRCh37: 6:110053824-110053825
GRCh38: 6:109732621-109732622
25 FIG4 NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) SNV Benign
 137377 rs9885672 GRCh37: 6:110107517-110107517
GRCh38: 6:109786314-109786314

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

73
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Gly104Asp VAR_070051 rs397509395
2 FIG4 p.Leu175Pro VAR_070052 rs397514707

Sources

Expression for Yunis-Varon Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.48 VAC14 SYNJ2 SYNJ1 SBF2 PIKFYVE PI4KA
2
Glycerophospholipid biosynthesis 66
Show member pathways
 12.27 VAC14 SYNJ2 SYNJ1 SBF2 PIKFYVE PI4KA
3
PI Metabolism 66
Show member pathways
 11.61 VAC14 SYNJ2 SYNJ1 SBF2 PIKFYVE PI4KA
4
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism 61
Show member pathways
 11.41 SYNJ2 SYNJ1 INPP5B
5
Intracellular trafficking proteins involved in CMT neuropathy 74
10.86 SBF2 MTMR2 FIG4
6
3-phosphoinositide biosynthesis 61
10.73 PIKFYVE PI4KA FIG4
Sources

GO Terms for Yunis-Varon Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 early endosome membrane GO:0031901 9.96 VAC14 PIKFYVE MTMR2 INPP5B FIG4
2 late endosome membrane GO:0031902 9.85 FIG4 MCOLN1 PIKFYVE TPCN2 VAC14
3 phagocytic vesicle membrane GO:0030670 9.8 PIKFYVE MCOLN1 INPP5B
4 endosome GO:0005768 9.56 VAC14 TPCN2 SBF2 PIKFYVE MTMR2 MCOLN1
5 endosome membrane GO:0010008 9.44 VAC14 TPCN2 SBF2 PIKFYVE MTMR2 MCOLN1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 INPP5B MTMR2 PI4KA PIKFYVE SYNJ1 SYNJ2
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.86 FIG4 PIKFYVE SYNJ1 SYNJ2
3 myelin assembly GO:0032288 9.85 PIKFYVE MTMR2 FIG4
4 inositol phosphate metabolic process GO:0043647 9.81 SYNJ1 INPP5B
5 negative regulation of myelination GO:0031642 9.8 MTMR2 FIG4
6 receptor-mediated endocytosis of virus by host cell GO:0019065 9.78 TPCN2 PIKFYVE
7 phagosome maturation GO:0090382 9.76 PIKFYVE MCOLN1
8 myelination GO:0042552 9.73 SBF2 MTMR2 FIG4
9 phosphatidylinositol metabolic process GO:0046488 9.72 SYNJ1 PIKFYVE MTMR2 FIG4
10 phosphatidylinositol dephosphorylation GO:0046856 9.65 SYNJ2 SYNJ1 MTMR2 INPP5B FIG4
11 inositol phosphate dephosphorylation GO:0046855 9.63 SYNJ2 SYNJ1 MTMR2 INPP5B
12 phosphatidylinositol biosynthetic process GO:0006661 9.47 VAC14 SYNJ2 SYNJ1 PIKFYVE PI4KA MTMR2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.85 SYNJ2 SYNJ1 MTMR2
2 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.81 SYNJ1 INPP5B
3 NAADP-sensitive calcium-release channel activity GO:0072345 9.8 TPCN2 MCOLN1
4 phosphatidylinositol phosphate 4-phosphatase activity GO:0034596 9.78 SYNJ2 SYNJ1
5 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.76 SYNJ1 FIG4
6 phosphatidylinositol-3-phosphate phosphatase activity GO:0004438 9.76 SYNJ2 SYNJ1 MTMR2 FIG4
7 phosphatase activity GO:0016791 9.72 FIG4 INPP5B MTMR2 SYNJ1 SYNJ2
8 intracellular phosphatidylinositol-3,5-bisphosphate-sensitive monatomic cation channel activity GO:0097682 9.71 TPCN2 MCOLN1
9 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.61 SYNJ2 SYNJ1
10 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.56 SYNJ2 SYNJ1 INPP5B FIG4
11 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.43 SYNJ2 SYNJ1 MTMR2
12 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.23 SYNJ2 SYNJ1 PIKFYVE FIG4
Sources

Sources for Yunis-Varon Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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