EVMPS
MCID: MLT163
MIFTS: 53

Multiple Pterygium Syndrome, Escobar Variant (EVMPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Pterygium Syndrome, Escobar Variant

MalaCards integrated aliases for Multiple Pterygium Syndrome, Escobar Variant:

Name: Multiple Pterygium Syndrome, Escobar Variant 57 75
Multiple Pterygium Syndrome 57 12 76 53 25 75 37 44 15
Escobar Syndrome 57 53 25 59 75 13
Pterygium Syndrome 57 53 25 75
Pterygium 12 44 15 73
Evmps 57 53 59 75
Multiple Pterygium Syndrome Escobar Type 53 29 6
Pterygium Colli Syndrome 57 53 75
Pterygium Universale 57 53 75
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome 53 59
Autosomal Recessive Multiple Pterygium Syndrome 53 59
Escobar Variant Multiple Pterygium Syndrome 53 59
Multiple Pterygium Syndrome, Non-Lethal Type 75
Multiple Pterygium Syndrome, Nonlethal Type 57
Multiple Pterygium Syndrome Nonlethal Type 53
Nonlethal Type Multiple Pterygium Syndrome 75
Pterygium Syndrome, Multiple, Escobar Type 40
Familial Pterygium Syndrome 25
Pterygium Colli 76
Surfer's Eye 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive multiple pterygium syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients are ambulatory
allelic to multiple pterygium syndrome, lethal type


HPO:

32
multiple pterygium syndrome, escobar variant:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Multiple Pterygium Syndrome, Escobar Variant

NIH Rare Diseases : 53 Multiple pterygium syndrome, Escobar type is characterized by webbing of skin (pterygium) and a lack of muscle movement (akinesia) that occur before birth. The pterygium typically affect the neck, fingers, elbows, and/or knees. Individuals with multiple pterygium syndrome, Escobar type may also develop a restriction of the joints, known as arthrogryposis, a sideways curve of the spine (scoliosis), and distinctive facial features. Males with this condition can have undescended testes (cryptorchidism).  Mutations in the CHRNG gene cause most cases of this disorder. It tends to be inherited in an autosomal recessive fashion. While there is still no cure for this disorder, treatment options will depend on the type and severity of symptoms.

MalaCards based summary : Multiple Pterygium Syndrome, Escobar Variant, also known as multiple pterygium syndrome, is related to multiple pterygium syndrome, lethal type and fetal akinesia deformation sequence. An important gene associated with Multiple Pterygium Syndrome, Escobar Variant is CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include skin, eye and testes, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 A syndrome that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.

Genetics Home Reference : 25 Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

OMIM : 57 Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types. (265000)

UniProtKB/Swiss-Prot : 75 Multiple pterygium syndrome, Escobar variant: Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis.

Wikipedia : 76 Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant... more...

Related Diseases for Multiple Pterygium Syndrome, Escobar Variant

Diseases related to Multiple Pterygium Syndrome, Escobar Variant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, lethal type 33.5 CHRNA1 CHRND CHRNG
2 fetal akinesia deformation sequence 31.6 CHRNA1 CHRND CHRNG
3 cystic lymphangioma 29.9 CHRND CHRNG
4 popliteal pterygium syndrome 12.7
5 pterygium of conjunctiva and cornea 12.5
6 multiple pterygium syndrome, x-linked 12.4
7 bartsocas-papas syndrome 12.3
8 pterygium colli mental retardation digital anomalies 12.2
9 double pterygium 12.1
10 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.1
11 escobar syndrome, type b 12.1
12 pterygium colli and mental retardation with facial and digital anomalies 12.0
13 central pterygium 12.0
14 progressive peripheral pterygium 12.0
15 pterygium colli, isolated 12.0
16 pterygium, antecubital 11.8
17 arthrogryposis, distal, type 8 11.7
18 van der woude syndrome 1 11.4
19 noonan syndrome 1 11.3
20 irf6-related disorders 11.0
21 restrictive dermopathy, lethal 11.0
22 pterigium colli 11.0
23 contractures, congenital, torticollis, and malignant hyperthermia 11.0
24 pinguecula 10.5
25 scleritis 10.5
26 astigmatism 10.4
27 cataract 10.2
28 syngnathia 10.1
29 keratopathy 10.1
30 conjunctivochalasis 10.1
31 pulmonary sequestration 10.1
32 burns 10.0
33 squamous cell carcinoma 10.0
34 endophthalmitis 10.0
35 cleft lip 10.0
36 cleft lip/palate 10.0
37 nail-patella syndrome 10.0
38 xeroderma pigmentosum, variant type 10.0
39 alkuraya-kucinskas syndrome 10.0
40 central retinal artery occlusion 10.0
41 retinal artery occlusion 10.0
42 esotropia 10.0
43 onychomatricoma 10.0
44 tracheoesophageal fistula with or without esophageal atresia 10.0
45 scoliosis 10.0
46 esophageal atresia 10.0
47 nemaline myopathy 10.0
48 myopathy 10.0
49 lung disease 10.0
50 malignant hyperthermia 10.0

Graphical network of the top 20 diseases related to Multiple Pterygium Syndrome, Escobar Variant:



Diseases related to Multiple Pterygium Syndrome, Escobar Variant

Symptoms & Phenotypes for Multiple Pterygium Syndrome, Escobar Variant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds

Skeletal Spine:
scoliosis
kyphosis
fusion of cervical vertebrae
anterior clefting of vertebral bodies

Abdomen External Features:
umbilical hernia

Head And Neck Mouth:
cleft palate
downturned corners of mouth
high-arched palate
small mouth
difficulty in opening mouth

Head And Neck Neck:
neck pterygia

Skeletal Feet:
talipes equinovarus
camptodactyly
talipes calcaneovalgus
rocker-bottom feet

Skeletal Hands:
arachnodactyly
camptodactyly
syndactyly

Respiratory Lung:
pulmonary hypoplasia

Respiratory:
neonatal respiratory distress

Genitourinary External Genitalia Female:
absence of labia majora

Skeletal Pelvis:
dislocation of hip

Skin Nails Hair Skin:
pterygia of digits, neck, axillae, antecubital, popliteal, intercrural areas

Prenatal Manifestations Movement:
reduced fetal movement

Head And Neck Ears:
low-set ears
hearing loss, conductive

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

Growth Height:
short stature

Head And Neck Face:
long philtrum
micrognathia
long face
flat, expressionless face

Skeletal:
arthrogryposis multiplex congenita

Genitourinary External Genitalia Male:
hypospadias

Chest Ribs Sternum Clavicles And Scapulae:
rib fusion
long clavicles

Chest Breasts:
hypoplastic nipples

Skeletal Limbs:
dislocated radial head
flexion contractures
absent patella
dysplastic patella

Neurologic Central Nervous System:
normal intelligence

Chest Diaphragm:
diaphragmatic hernia
eventration of diaphragm

Muscle Soft Tissue:
reduced muscle mass

Prenatal Manifestations Delivery:
intrauterine death


Clinical features from OMIM:

265000

Human phenotypes related to Multiple Pterygium Syndrome, Escobar Variant:

59 32 (show top 50) (show all 94)
# 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 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
4 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
5 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
6 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
7 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
8 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
9 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
10 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
11 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
12 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
15 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
16 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
17 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
18 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
19 aplasia/hypoplasia of the abdominal wall musculature 59 32 frequent (33%) Frequent (79-30%) HP:0010318
20 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
21 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
22 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
23 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
24 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
25 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
26 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
27 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
28 nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003764
29 abnormality of the foot 59 32 frequent (33%) Frequent (79-30%) HP:0001760
30 arthrogryposis multiplex congenita 59 32 frequent (33%) Frequent (79-30%) HP:0002804
31 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
32 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
33 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
34 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
35 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
36 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
37 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
38 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
39 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
40 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
41 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
42 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
43 symphalangism affecting the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009773
44 rib fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000902
45 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
46 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
47 neonatal respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002643
48 abnormality of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000157
49 popliteal pterygium 59 32 hallmark (90%) Very frequent (99-80%) HP:0009756
50 morphological abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0012718

Drugs & Therapeutics for Multiple Pterygium Syndrome, Escobar Variant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Multiple Pterygium Syndrome, Escobar Variant

Cochrane evidence based reviews: pterygium

Genetic Tests for Multiple Pterygium Syndrome, Escobar Variant

Genetic tests related to Multiple Pterygium Syndrome, Escobar Variant:

# Genetic test Affiliating Genes
1 Multiple Pterygium Syndrome Escobar Type 29 CHRNG

Anatomical Context for Multiple Pterygium Syndrome, Escobar Variant

MalaCards organs/tissues related to Multiple Pterygium Syndrome, Escobar Variant:

41
Skin, Eye, Testes, Heart, Skeletal Muscle, Lung, Kidney

Publications for Multiple Pterygium Syndrome, Escobar Variant

Articles related to Multiple Pterygium Syndrome, Escobar Variant:

(show top 50) (show all 87)
# Title Authors Year
1
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome. ( 29399782 )
2018
2
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. ( 28336317 )
2017
3
Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report. ( 27987045 )
2017
4
Anaesthetic management of a patient with multiple pterygium syndrome for elective caesarean section. ( 28684141 )
2017
5
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. ( 27245440 )
2016
6
Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome. ( 27902173 )
2016
7
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. ( 26932181 )
2016
8
Lethal multiple pterygium syndrome. ( 27843868 )
2016
9
Multiple pterygium syndrome: Challenge for anesthesiologist. ( 27375397 )
2016
10
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. ( 25957469 )
2015
11
Nonlethal multiple pterygium syndrome: Escobar syndrome. ( 24472885 )
2014
12
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. ( 25476234 )
2014
13
The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation. ( 24382544 )
2013
14
Prevalence and patterns of scoliosis in children with multiple pterygium syndrome. ( 22327454 )
2012
15
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. ( 22482962 )
2012
16
Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography. ( 23230547 )
2012
17
Anesthetic management of a pregnant patient with multiple pterygium syndrome (Escobar type). ( 22325835 )
2012
18
Congenital vertical talus in multiple pterygium syndrome. ( 21654467 )
2011
19
Multiple pterygium syndrome: mimicking the findings of Turner syndrome. ( 22308873 )
2011
20
Multiple pterygium syndrome with horseshoe kidney and polydactyly: a further case. ( 19282756 )
2009
21
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. ( 18179903 )
2008
22
Physical therapy intervention for an adolescent with a knee flexion contracture and diagnosis of multiple pterygium syndrome. ( 17505291 )
2007
23
Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation. ( 17431910 )
2007
24
Lethal multiple pterygium syndrome associated with omphalocele. ( 18286827 )
2007
25
First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. ( 16912497 )
2006
26
Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? ( 16964621 )
2006
27
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. ( 16826531 )
2006
28
Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report. ( 18751807 )
2005
29
Sonographic features of lethal multiple pterygium syndrome at 14 weeks. ( 15966038 )
2005
30
Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. ( 12417929 )
2003
31
Case report: lethal multiple pterygium syndrome. ( 14578039 )
2003
32
Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome. ( 12975782 )
2003
33
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? ( 11748498 )
2001
34
Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome. ( 11343344 )
2001
35
Chromosomes 6/7 translocation t(6:7)(q15;32) presenting as multiple pterygium syndrome. ( 11224589 )
2001
36
A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity? ( 11432500 )
2001
37
Autosomal recessive multiple pterygium syndrome: a new variant? ( 10925380 )
2000
38
Lethal multiple pterygium syndrome: antenatal ultrasonographic diagnosis. ( 10972565 )
2000
39
Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype? ( 9916854 )
1999
40
Multiple pterygium syndrome: report of one case. ( 10910614 )
1999
41
Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. ( 9605614 )
1998
42
Prenatal diagnosis of lethal multiple pterygium syndrome in mid-pregnancy. ( 9793197 )
1998
43
XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype. ( 8986268 )
1997
44
Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. ( 8986282 )
1997
45
Multiple pterygium syndrome. ( 10771823 )
1997
46
Scoliosis in Escobar syndrome (multiple pterygium syndrome). Description of two cases. ( 9009416 )
1996
47
The anesthetic management of patients with multiple pterygium syndrome. ( 8694333 )
1996
48
Otolaryngologic manifestations of multiple pterygium syndrome. ( 8770680 )
1996
49
Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. ( 8778704 )
1996
50
Lethal multiple pterygium syndrome: importance of fetal physical examination. ( 7645590 )
1995

Variations for Multiple Pterygium Syndrome, Escobar Variant

UniProtKB/Swiss-Prot genetic disease variations for Multiple Pterygium Syndrome, Escobar Variant:

75
# Symbol AA change Variation ID SNP ID
1 CHRNG p.Val107Gly VAR_030753 rs267606726
2 CHRNG p.Arg239Cys VAR_030755 rs121912670

ClinVar genetic disease variations for Multiple Pterygium Syndrome, Escobar Variant:

6 (show top 50) (show all 255)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNG NM_005199.4(CHRNG): c.13C> T (p.Gln5Ter) single nucleotide variant Pathogenic rs267606725 GRCh37 Chromosome 2, 233404470: 233404470
2 CHRNG NM_005199.4(CHRNG): c.13C> T (p.Gln5Ter) single nucleotide variant Pathogenic rs267606725 GRCh38 Chromosome 2, 232539760: 232539760
3 CHRNG NM_005199.4(CHRNG): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs121912670 GRCh37 Chromosome 2, 233407702: 233407702
4 CHRNG NM_005199.4(CHRNG): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs121912670 GRCh38 Chromosome 2, 232542992: 232542992
5 CHRNG NM_005199.4(CHRNG): c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro) duplication Pathogenic rs863223313 GRCh37 Chromosome 2, 233405372: 233405380
6 CHRNG NM_005199.4(CHRNG): c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro) duplication Pathogenic rs863223313 GRCh38 Chromosome 2, 232540662: 232540670
7 CHRNG NM_005199.4(CHRNG): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs121912671 GRCh37 Chromosome 2, 233410280: 233410280
8 CHRNG NM_005199.4(CHRNG): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs121912671 GRCh38 Chromosome 2, 232545570: 232545570
9 CHRNG NM_005199.4(CHRNG): c.320T> G (p.Val107Gly) single nucleotide variant Pathogenic rs267606726 GRCh37 Chromosome 2, 233405391: 233405391
10 CHRNG NM_005199.4(CHRNG): c.320T> G (p.Val107Gly) single nucleotide variant Pathogenic rs267606726 GRCh38 Chromosome 2, 232540681: 232540681
11 CHRNG NM_005199.4(CHRNG): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs121912672 GRCh37 Chromosome 2, 233404782: 233404782
12 CHRNG NM_005199.4(CHRNG): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs121912672 GRCh38 Chromosome 2, 232540072: 232540072
13 CHRNG NM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs) deletion Pathogenic rs767503038 GRCh37 Chromosome 2, 233407740: 233407741
14 CHRNG NM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs) deletion Pathogenic rs767503038 GRCh38 Chromosome 2, 232543030: 232543031
15 CHRNG CHRNG, 1-BP DUP, 459A duplication Pathogenic
16 CHRNA1 NM_000079.3(CHRNA1): c.1073A> T (p.Asp358Val) single nucleotide variant Benign/Likely benign rs6739001 GRCh37 Chromosome 2, 175613477: 175613477
17 CHRNA1 NM_000079.3(CHRNA1): c.1073A> T (p.Asp358Val) single nucleotide variant Benign/Likely benign rs6739001 GRCh38 Chromosome 2, 174748749: 174748749
18 CHRNA1 NM_000079.3(CHRNA1): c.540+4G> C single nucleotide variant Benign/Likely benign rs112674580 GRCh37 Chromosome 2, 175618943: 175618943
19 CHRNA1 NM_000079.3(CHRNA1): c.540+4G> C single nucleotide variant Benign/Likely benign rs112674580 GRCh38 Chromosome 2, 174754215: 174754215
20 CHRNA1 NM_000079.3(CHRNA1): c.960C> T (p.His320=) single nucleotide variant Benign/Likely benign rs2229957 GRCh37 Chromosome 2, 175614716: 175614716
21 CHRNA1 NM_000079.3(CHRNA1): c.960C> T (p.His320=) single nucleotide variant Benign/Likely benign rs2229957 GRCh38 Chromosome 2, 174749988: 174749988
22 CHRND NM_000751.2(CHRND): c.1047+9T> C single nucleotide variant Benign/Likely benign rs3762528 GRCh37 Chromosome 2, 233396375: 233396375
23 CHRND NM_000751.2(CHRND): c.1047+9T> C single nucleotide variant Benign/Likely benign rs3762528 GRCh38 Chromosome 2, 232531665: 232531665
24 CHRND NM_000751.2(CHRND): c.120G> A (p.Lys40=) single nucleotide variant Benign/Likely benign rs55921262 GRCh37 Chromosome 2, 233391306: 233391306
25 CHRND NM_000751.2(CHRND): c.120G> A (p.Lys40=) single nucleotide variant Benign/Likely benign rs55921262 GRCh38 Chromosome 2, 232526596: 232526596
26 CHRND NM_000751.2(CHRND): c.12A> G (p.Pro4=) single nucleotide variant Benign rs2245601 GRCh37 Chromosome 2, 233390937: 233390937
27 CHRND NM_000751.2(CHRND): c.12A> G (p.Pro4=) single nucleotide variant Benign rs2245601 GRCh38 Chromosome 2, 232526227: 232526227
28 CHRNG NM_005199.4(CHRNG): c.1422C> T (p.Arg474=) single nucleotide variant Benign/Likely benign rs2099489 GRCh37 Chromosome 2, 233410294: 233410294
29 CHRNG NM_005199.4(CHRNG): c.1422C> T (p.Arg474=) single nucleotide variant Benign/Likely benign rs2099489 GRCh38 Chromosome 2, 232545584: 232545584
30 CHRNG NM_005199.4(CHRNG): c.117dupC (p.Asn40Glnfs) duplication Pathogenic rs797044677 GRCh37 Chromosome 2, 233404763: 233404763
31 CHRNG NM_005199.4(CHRNG): c.117dupC (p.Asn40Glnfs) duplication Pathogenic rs797044677 GRCh38 Chromosome 2, 232540053: 232540053
32 CHRNA1 NM_001039523.2(CHRNA1): c.730C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs150638770 GRCh37 Chromosome 2, 175618354: 175618354
33 CHRNA1 NM_001039523.2(CHRNA1): c.730C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs150638770 GRCh38 Chromosome 2, 174753626: 174753626
34 CHRNG NM_005199.4(CHRNG): c.507-13C> T single nucleotide variant Benign/Likely benign rs2853462 GRCh37 Chromosome 2, 233407120: 233407120
35 CHRNG NM_005199.4(CHRNG): c.507-13C> T single nucleotide variant Benign/Likely benign rs2853462 GRCh38 Chromosome 2, 232542410: 232542410
36 CHRNG NM_005199.4(CHRNG): c.775G> A (p.Ala259Thr) single nucleotide variant Uncertain significance rs138125827 GRCh37 Chromosome 2, 233407762: 233407762
37 CHRNG NM_005199.4(CHRNG): c.775G> A (p.Ala259Thr) single nucleotide variant Uncertain significance rs138125827 GRCh38 Chromosome 2, 232543052: 232543052
38 CHRNG NM_005199.4(CHRNG): c.951C> A (p.Ile317=) single nucleotide variant Conflicting interpretations of pathogenicity rs75369104 GRCh37 Chromosome 2, 233408325: 233408325
39 CHRNG NM_005199.4(CHRNG): c.951C> A (p.Ile317=) single nucleotide variant Conflicting interpretations of pathogenicity rs75369104 GRCh38 Chromosome 2, 232543615: 232543615
40 CHRNA1 NM_000079.3(CHRNA1): c.643G> A (p.Asp215Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148304857 GRCh37 Chromosome 2, 175618366: 175618366
41 CHRNA1 NM_000079.3(CHRNA1): c.643G> A (p.Asp215Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148304857 GRCh38 Chromosome 2, 174753638: 174753638
42 CHRNG NM_005199.4(CHRNG): c.428C> G (p.Pro143Arg) single nucleotide variant Pathogenic rs765746795 GRCh37 Chromosome 2, 233406161: 233406161
43 CHRNG NM_005199.4(CHRNG): c.428C> G (p.Pro143Arg) single nucleotide variant Pathogenic rs765746795 GRCh38 Chromosome 2, 232541451: 232541451
44 CHRNG NM_005199.4(CHRNG): c.1115C> T (p.Ser372Phe) single nucleotide variant Uncertain significance rs145433186 GRCh37 Chromosome 2, 233409156: 233409156
45 CHRNG NM_005199.4(CHRNG): c.1115C> T (p.Ser372Phe) single nucleotide variant Uncertain significance rs145433186 GRCh38 Chromosome 2, 232544446: 232544446
46 CHRNG NM_005199.4(CHRNG): c.1516C> T (p.Pro506Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs71421651 GRCh37 Chromosome 2, 233410388: 233410388
47 CHRNG NM_005199.4(CHRNG): c.1516C> T (p.Pro506Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs71421651 GRCh38 Chromosome 2, 232545678: 232545678
48 CHRNA1 NM_001039523.2(CHRNA1): c.190-5delT deletion Benign rs34695580 GRCh38 Chromosome 2, 174759380: 174759380
49 CHRNA1 NM_001039523.2(CHRNA1): c.190-5delT deletion Benign rs34695580 GRCh37 Chromosome 2, 175624108: 175624108
50 CHRND; CHRNG NM_005199.4(CHRNG): c.445G> A (p.Ala149Thr) single nucleotide variant Benign/Likely benign rs2289080 GRCh37 Chromosome 2, 233406178: 233406178

Expression for Multiple Pterygium Syndrome, Escobar Variant

Search GEO for disease gene expression data for Multiple Pterygium Syndrome, Escobar Variant.

Pathways for Multiple Pterygium Syndrome, Escobar Variant

Pathways related to Multiple Pterygium Syndrome, Escobar Variant according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080

GO Terms for Multiple Pterygium Syndrome, Escobar Variant

Cellular components related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.71 CHRNA1 CHRNB1 CHRND CHRNG
2 synapse GO:0045202 9.67 CHRNA1 CHRNB1 CHRND CHRNG
3 neuron projection GO:0043005 9.62 CHRNA1 CHRNB1 CHRND CHRNG
4 postsynaptic membrane GO:0045211 9.46 CHRNA1 CHRNB1 CHRND CHRNG
5 neuromuscular junction GO:0031594 9.43 CHRNA1 CHRNB1 CHRND
6 integral component of postsynaptic specialization membrane GO:0099060 9.13 CHRNA1 CHRNB1 CHRND
7 acetylcholine-gated channel complex GO:0005892 8.92 CHRNA1 CHRNB1 CHRND CHRNG

Biological processes related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.86 CHRNA1 CHRNB1 CHRND CHRNG
2 ion transmembrane transport GO:0034220 9.81 CHRNA1 CHRNB1 CHRND CHRNG
3 chemical synaptic transmission GO:0007268 9.78 CHRNA1 CHRNB1 CHRND CHRNG
4 regulation of membrane potential GO:0042391 9.73 CHRNA1 CHRNB1 CHRND CHRNG
5 muscle contraction GO:0006936 9.71 CHRNB1 CHRND CHRNG
6 excitatory postsynaptic potential GO:0060079 9.71 CHRNA1 CHRNB1 CHRND CHRNG
7 cation transport GO:0006812 9.7 CHRNA1 CHRNB1 CHRND
8 nervous system process GO:0050877 9.67 CHRNA1 CHRNB1 CHRND CHRNG
9 regulation of postsynaptic membrane potential GO:0060078 9.62 CHRNA1 CHRNB1 CHRND CHRNG
10 response to nicotine GO:0035094 9.56 CHRNA1 CHRNB1 CHRND CHRNG
11 neuromuscular process GO:0050905 9.55 CHRNA1 CHRND
12 musculoskeletal movement GO:0050881 9.49 CHRNA1 CHRND
13 skeletal muscle tissue growth GO:0048630 9.46 CHRNA1 CHRND
14 neuromuscular synaptic transmission GO:0007274 9.46 CHRNA1 CHRNB1 CHRND CHRNG
15 skeletal muscle contraction GO:0003009 9.26 CHRNA1 CHRNB1 CHRND MYH3
16 synaptic transmission, cholinergic GO:0007271 8.92 CHRNA1 CHRNB1 CHRND CHRNG

Molecular functions related to Multiple Pterygium Syndrome, Escobar Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.67 CHRNA1 CHRNB1 CHRND CHRNG
2 transmembrane signaling receptor activity GO:0004888 9.63 CHRNA1 CHRNB1 CHRND
3 extracellular ligand-gated ion channel activity GO:0005230 9.62 CHRNA1 CHRNB1 CHRND CHRNG
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.58 CHRNA1 CHRNB1 CHRND
5 ligand-gated ion channel activity GO:0015276 9.56 CHRNA1 CHRNB1 CHRND CHRNG
6 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNB1 CHRND CHRNG
7 channel activity GO:0015267 9.43 CHRNB1 CHRNG
8 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA1 CHRNB1 CHRND CHRNG
9 acetylcholine receptor activity GO:0015464 8.92 CHRNA1 CHRNB1 CHRND CHRNG

Sources for Multiple Pterygium Syndrome, Escobar Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....