EVMPS
MCID: MLT054
MIFTS: 38

Multiple Pterygium Syndrome Escobar Type (EVMPS) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Multiple Pterygium Syndrome Escobar Type

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Multiple Pterygium Syndrome Escobar Type, also known as escobar syndrome, is related to popliteal pterygium syndrome and multiple pterygium syndrome lethal type, and has symptoms including pointed chin, facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy and cleft lip and palate. An important gene associated with Multiple Pterygium Syndrome Escobar Type is CHRNG (cholinergic receptor, nicotinic, gamma (muscle)). Affiliated tissues include lung, testes and eye.

NIH Rare Diseases:44 Multiple pterygium syndrome, escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. symptoms of escobar syndrome are present from birth. it can be caused by mutations in the chrng gene. it tends to be inherited in an autosomal recessive fashion. last updated: 1/29/2010

Description from OMIM:48 265000

Aliases & Classifications for Multiple Pterygium Syndrome Escobar Type

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Sources:
44NIH Rare Diseases, 23GTR, 21GeneTests, 22Genetics Home Reference, 48OMIM, 50Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

50
escobar syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple pterygium syndrome escobar type 44 23
escobar syndrome 44 21 22 48 50
multiple pterygium syndrome 44 21 22
pterygium syndrome 44 22
autosomal recessive non-lethal multiple pterygium syndrome 50
autosomal recessive multiple pterygium syndrome 50
escobar variant multiple pterygium syndrome 50
multiple pterygium syndrome nonlethal type 44
familial pterygium syndrome 22
pterygium colli syndrome 44
pterygium universale 44
evmps 50


External Ids:

OMIM48 265000
ICD10 via Orphanet27 Q79.8
ICD1026 H11.0

Related Diseases for Multiple Pterygium Syndrome Escobar Type

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Multiple Pterygium Syndrome Escobar Type:



Diseases related to multiple pterygium syndrome escobar type

Symptoms for Multiple Pterygium Syndrome Escobar Type

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

265000

Clinical features from OMIM:

265000

Symptoms:

50 (show all 64)
  • pointed chin
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • cleft lip and palate
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • vertebral segmentation anomaly/hemivertebrae
  • micropenis/small penis/agenesis
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • intrauterine growth retardation
  • telecanthus/canthal dystopy
  • anomalies of eyelids, eyelashes and lacrimal system
  • aortic dilatation/dilation
  • arthrogryposis
  • webbed neck/pterygium colli
  • skin hypoplasia/aplasia/atrophy
  • conductive deafness/hearing loss
  • long face
  • popliteal web
  • cutaneous/amniotic bands/webbing of joints
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • pterygion
  • sternal/sternum anomalies
  • camptodactyly of fingers
  • symphalangy of fingers
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • foot anomalies
  • anomalies of spine, vertebrae and pelvis
  • spina bifida occulta
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • low hair line (back)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • structural anomalies of the digestive tract
  • restricted joint mobility/joint stiffness/ankylosis
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • hearing loss/hypoacusia/deafness
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • high vaulted/narrow palate
  • abnormal gait
  • ptosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • scoliosis
  • autosomal recessive inheritance
  • syndactyly of fingers/interdigital palm
  • pectus excavatum
  • low set ears/posteriorly rotated ears
  • short stature/dwarfism/nanism
  • microcephaly
  • anomalies of tongue, gingiva and oral mucosa
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • anomalies of ear and hearing
  • dolichocephaly/scaphocephaly
  • strabismus/squint
  • epicanthic folds
  • congenital cardiac anomaly/malformation/cardiopathy
  • anomalies of the ribs
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • long philtrum
  • movement disorder
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • late puberty/hypogonadism/hypogenitalism
  • absent/hypotonic/flaccid abdominal wall muscles
  • hypertelorism

Drugs & Therapeutics for Multiple Pterygium Syndrome Escobar Type

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Multiple Pterygium Syndrome Escobar Type

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21GeneTests, 23GTR
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Genetic tests related to Multiple Pterygium Syndrome Escobar Type:

id Genetic test Affiliating Genes
1 Escobar Syndrome21
2 Multiple Pterygium Syndrome21
3 Multiple Pterygium Syndrome Escobar Type23

Anatomical Context for Multiple Pterygium Syndrome Escobar Type

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34MalaCards
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MalaCards organs/tissues related to Multiple Pterygium Syndrome Escobar Type:

34
Lung, Testes, Eye, Tongue, Skin

Animal Models for Multiple Pterygium Syndrome Escobar Type or affiliated genes

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Publications for Multiple Pterygium Syndrome Escobar Type

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53PubMed
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Articles related to Multiple Pterygium Syndrome Escobar Type:

idTitleAuthorsYear
1
Anesthetic management of a pregnant patient with multiple pterygium syndrome (Escobar type). (22325835)
2012

Variations for Multiple Pterygium Syndrome Escobar Type

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Multiple Pterygium Syndrome Escobar Type:

65
id Symbol AA change Variation ID SNP ID
1CHRNGp.Val107GlyVAR_030753
2CHRNGp.Arg239CysVAR_030755

Clinvar genetic disease variations for Multiple Pterygium Syndrome Escobar Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1CHRNGNM_005199.4(CHRNG): c.13C> T (p.Gln5Ter)single nucleotide variantPathogenicrs267606725GRCh37Chr 2, 233404470: 233404470
2CHRNGNM_005199.4(CHRNG): c.715C> T (p.Arg239Cys)single nucleotide variantPathogenicrs121912670GRCh37Chr 2, 233407702: 233407702
3CHRNGCHRNG, 9-BP DUPduplicationPathogenic
4CHRNGNM_005199.4(CHRNG): c.1408C> T (p.Arg470Ter)single nucleotide variantPathogenicrs121912671GRCh37Chr 2, 233410280: 233410280
5CHRNGNM_005199.4(CHRNG): c.320T> G (p.Val107Gly)single nucleotide variantPathogenicrs267606726GRCh37Chr 2, 233405391: 233405391
6CHRNGNM_005199.4(CHRNG): c.136C> T (p.Arg46Ter)single nucleotide variantPathogenicrs121912672GRCh37Chr 2, 233404782: 233404782
7CHRNGCHRNG, 1-BP DUP, 459AduplicationPathogenic

Expression for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Pathways for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Compounds for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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GO Terms for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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Products for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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  • Antibodies
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  • Antibodies

Sources for Multiple Pterygium Syndrome Escobar Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet