EVMPS
MCID: MLT054
MIFTS: 38

Multiple Pterygium Syndrome Escobar Type (EVMPS) malady

Eye diseases, Fetal diseases, Genetic diseases categories

Summaries for Multiple Pterygium Syndrome Escobar Type

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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 hypoplastic lungs/pulmonary hypoplasia/agenesis, anomalies of ear and hearing and conductive deafness/hearing loss. An important gene associated with Multiple Pterygium Syndrome Escobar Type is CHRNG (cholinergic receptor, nicotinic, gamma (muscle)). Affiliated tissues include skin, testes and lung.

NIH Rare Diseases:42 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:46 265000

Aliases & Classifications for Multiple Pterygium Syndrome Escobar Type

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Sources:
42NIH Rare Diseases, 22GTR, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
escobar syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple pterygium syndrome escobar type 42 22
escobar syndrome 42 20 21 46 48
multiple pterygium syndrome 42 20 21
pterygium syndrome 42 21
autosomal recessive non-lethal multiple pterygium syndrome 48
autosomal recessive multiple pterygium syndrome 48
escobar variant multiple pterygium syndrome 48
multiple pterygium syndrome nonlethal type 42
familial pterygium syndrome 21
pterygium colli syndrome 42
evmps 48


External Ids:

OMIM46 265000
ICD10 via Orphanet26 Q79.8
ICD1025 H11.0

Related Diseases for Multiple Pterygium Syndrome Escobar Type

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17GeneCards, 18GeneDecks
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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

Clinical Features for Multiple Pterygium Syndrome Escobar Type

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

265000

Clinical synopsis from OMIM:

265000

Symptoms:

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

Drugs & Therapeutics for Multiple Pterygium Syndrome Escobar Type

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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Genetic tests related to Multiple Pterygium Syndrome Escobar Type:

id Genetic test Affiliating Genes
1 Escobar Syndrome20
2 Multiple Pterygium Syndrome20
3 Multiple Pterygium Syndrome Escobar Type22

Anatomical Context for Multiple Pterygium Syndrome Escobar Type

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32MalaCards
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MalaCards organs/tissues related to Multiple Pterygium Syndrome Escobar Type:

32
Skin, Testes, Lung, Eye, Tongue

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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Genetic Variations for Multiple Pterygium Syndrome Escobar Type

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Multiple Pterygium Syndrome Escobar Type:

62
id Symbol AA change Variation ID SNP ID
1CHRNGp.Val107GlyVAR_030753
2CHRNGp.Arg239CysVAR_030755

Expression for genes affiliated with Multiple Pterygium Syndrome Escobar Type

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1BioGPS, 15Gene 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Pterygium Syndrome Escobar Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet