LMPS
MCID: MLT055
MIFTS: 46

Multiple Pterygium Syndrome Lethal Type (LMPS) malady

Fetal diseases category

Summaries for Multiple Pterygium Syndrome Lethal Type

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. it is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers.  fetuses with this condition are usually not born. some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. both x-linked and autosomal recessive inheritance have been proposed.mutations in the chrng, chrna1, and chrnd genes have been found to cause this condition. last updated: 7/21/2011

MalaCards: Multiple Pterygium Syndrome Lethal Type, also known as pterygium syndrome multiple lethal type, is related to pterygium and x-linked lethal multiple pterygium syndrome, and has symptoms including megaureter/hydronephrosis/pyeloureteral junction syndrome, intrauterine growth retardation and capillary hemangioma/nevus/naevus flammeus/port-wine stain. An important gene associated with Multiple Pterygium Syndrome Lethal Type is CHRND (cholinergic receptor, nicotinic, delta (muscle)), and among its related pathways are Agrin Interactions at Neuromuscular Junction and Class A/1 (Rhodopsin-like receptors). The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and heart.

Description from OMIM:46 253290

Aliases & Classifications for Multiple Pterygium Syndrome Lethal Type

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42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases


Characteristics (Orphanet epidemiological data):

48
lethal multiple pterygium syndrome:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

multiple pterygium syndrome lethal type 42
pterygium syndrome multiple lethal type 42 20 22
multiple pterygium syndrome, lethal type 46 60
lethal multiple pterygium syndrome 42 48
lmps 42 48
autosomal recessive lethal multiple pterygium syndrome 48


External Ids:

OMIM46 253290
MESH via Orphanet35 C537378
ICD10 via Orphanet26 Q79.8
SNOMED-CT via Orphanet57 60192008
UMLS via Orphanet61 C1854678

Related Diseases for Multiple Pterygium Syndrome Lethal Type

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Multiple Pterygium Syndrome Lethal Type:



Diseases related to multiple pterygium syndrome lethal type

Clinical Features for Multiple Pterygium Syndrome Lethal Type

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46OMIM, 48Orphanet
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Clinical features from OMIM:

253290

Clinical synopsis from OMIM:

253290

Symptoms:

48 (show all 39)
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • intrauterine growth retardation
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • polyhydramnios
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • intestinal/gut/bowel malrotation
  • anomalies of spine, vertebrae and pelvis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • structural anomalies of the kidney and the urinary tract
  • malignant hyperthermia
  • camptodactyly of fingers
  • cutaneous/amniotic bands/webbing of joints
  • popliteal web
  • synostosis
  • arthrogryposis
  • cystic hygroma
  • abnormal dermatoglyphics
  • long philtrum
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • microcephaly
  • restricted joint mobility/joint stiffness/ankylosis
  • broad nose/nasal bridge
  • early death/lethality
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • autosomal recessive inheritance
  • low set ears/posteriorly rotated ears
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • webbed neck/pterygium colli
  • hydrops fetalis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • x-linked recessive inheritance
  • microstomia/little mouth
  • short rib cage/thorax
  • epicanthic folds
  • structural anomalies of the nervous system
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypertelorism

Drugs & Therapeutics for Multiple Pterygium Syndrome Lethal 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 Lethal Type

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20GeneTests, 22GTR
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Genetic tests related to Multiple Pterygium Syndrome Lethal Type:

id Genetic test Affiliating Genes
1 Multiple Pterygium Syndrome, Lethal Type20
2 Lethal Multiple Pterygium Syndrome22

Anatomical Context for Multiple Pterygium Syndrome Lethal Type

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

32
Bone, Lung, Heart, Skin, Testes, Kidney, Cerebellum

Animal Models for Multiple Pterygium Syndrome Lethal Type or affiliated genes

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Publications for Multiple Pterygium Syndrome Lethal Type

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Genetic Variations for Multiple Pterygium Syndrome Lethal Type

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

62
id Symbol AA change Variation ID SNP ID
1CHRNA1p.Arg254LeuVAR_043904
2CHRNDp.Phe95LeuVAR_043905
3CHRNGp.Val107GlyVAR_030753
4CHRNGp.Arg239CysVAR_030755

Expression for genes affiliated with Multiple Pterygium Syndrome Lethal 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 Lethal Type

Search GEO for disease gene expression data for Multiple Pterygium Syndrome Lethal Type.

Pathways for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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51QIAGEN, 53Reactome, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 49 28 11 2412.6RAPSN, CHRND, CHRNA1
2galantamine44 49 1110.2CHRND, CHRNA1, CHRNG

GO Terms for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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16Gene Ontology
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Cellular components related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315948.8RAPSN, CHRNA1
2acetylcholine-gated channel complexGO:0058928.6CHRND, CHRNA1, CHRNG
3postsynaptic membraneGO:0452118.0RAPSN, CHRND, CHRNA1, CHRNG
4plasma membraneGO:0058868.0RAPSN, CHRND, CHRNA1, CHRNG
5cell junctionGO:0300547.9CHRNG, CHRNA1, CHRND, RAPSN

Biological processes related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:0486309.2CHRNA1, CHRND
2musculoskeletal movementGO:0508819.2CHRND, CHRNA1
3neuromuscular processGO:0509059.1CHRND, CHRNA1
4muscle contractionGO:0069369.0CHRNG, CHRND
5regulation of membrane potentialGO:0423918.7CHRNA1, CHRND, CHRNG
6signal transductionGO:0071658.5CHRNG, CHRNA1, CHRND
7transportGO:0068108.4CHRNG, CHRNA1, CHRND
8synaptic transmissionGO:0072688.2CHRNA1, CHRND, RAPSN, CHRNG

Molecular functions related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.0CHRNA1, CHRNG
2acetylcholine bindingGO:0421668.8CHRND, CHRNA1
3acetylcholine-activated cation-selective channel activityGO:0048898.4CHRND, CHRNA1, CHRNG

Products for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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Sources for Multiple Pterygium Syndrome Lethal 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