LMPS
MCID: MLT055
MIFTS: 46

Multiple Pterygium Syndrome Lethal Type (LMPS) malady

Genetic diseases, Rare diseases, Fetal diseases categories

Summaries for Multiple Pterygium Syndrome Lethal Type

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 intestinal/gut/bowel malrotation, upslanted palpebral fissures/mongoloid slanting palpebral fissures and polyhydramnios. 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 Peptide ligand-binding receptors. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and skin.

Description from OMIM:48 253290

Aliases & Classifications for Multiple Pterygium Syndrome Lethal Type

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44NIH Rare Diseases, 50Orphanet, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 44
pterygium syndrome multiple lethal type 44 21 23
multiple pterygium syndrome, lethal type 48 63
lethal multiple pterygium syndrome 44 50
lmps 44 50
autosomal recessive lethal multiple pterygium syndrome 50


External Ids:

OMIM48 253290
MESH via Orphanet37 C537378
ICD10 via Orphanet27 Q79.8
SNOMED-CT via Orphanet60 60192008
UMLS via Orphanet64 C1854678

Related Diseases for Multiple Pterygium Syndrome Lethal Type

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18GeneCards, 19GeneDecks
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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

Symptoms for Multiple Pterygium Syndrome Lethal Type

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

253290

Clinical features from OMIM:

253290

Symptoms:

50 (show all 39)
  • intestinal/gut/bowel malrotation
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • polyhydramnios
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • intrauterine growth retardation
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Multiple Pterygium Syndrome Lethal Type

Search CenterWatch for Multiple Pterygium Syndrome Lethal Type

Genetic Tests for Multiple Pterygium Syndrome Lethal Type

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

id Genetic test Affiliating Genes
1 Multiple Pterygium Syndrome, Lethal Type21
2 Lethal Multiple Pterygium Syndrome23

Anatomical Context for Multiple Pterygium Syndrome Lethal Type

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

34
Bone, Lung, Skin, Heart, 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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Variations for Multiple Pterygium Syndrome Lethal Type

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

65
id Symbol AA change Variation ID SNP ID
1CHRNA1p.Arg254LeuVAR_043904
2CHRNDp.Phe95LeuVAR_043905
3CHRNGp.Val107GlyVAR_030753
4CHRNGp.Arg239CysVAR_030755

Clinvar genetic disease variations for Multiple Pterygium Syndrome Lethal Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1CHRNGNM_005199.4(CHRNG): c.715C> T (p.Arg239Cys)single nucleotide variantPathogenicrs121912670GRCh37Chr 2, 233407702: 233407702
2CHRNGNM_005199.4(CHRNG): c.320T> G (p.Val107Gly)single nucleotide variantPathogenicrs267606726GRCh37Chr 2, 233405391: 233405391
3CHRNGCHRNG, 2-BP DEL, 753CTdeletionPathogenic
4CHRNDNM_000751.2(CHRND): c.234G> A (p.Trp78Ter)single nucleotide variantPathogenicrs121909505GRCh37Chr 2, 233392146: 233392146
5CHRNDNM_000751.2(CHRND): c.283T> C (p.Phe95Leu)single nucleotide variantPathogenicrs121909506GRCh37Chr 2, 233393011: 233393011
6CHRNDNM_000751.2(CHRND): c.1390C> T (p.Arg464Ter)single nucleotide variantPathogenicrs121909507GRCh37Chr 2, 233399858: 233399858
7CHRNA1NM_001039523.2(CHRNA1): c.761G> T (p.Arg254Leu)single nucleotide variantPathogenicrs137852809GRCh37Chr 2, 175618323: 175618323
8CHRNA1CHRNA1, 17-BP DUP, NT117duplicationPathogenic
9CHRNGCHRNG, 1-BP DUP, 459AduplicationPathogenic

Expression for genes affiliated with Multiple Pterygium Syndrome Lethal 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 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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51PathCards, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 13EMD Millipore
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Pathways related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1RAPSN, CHRNA1
2
Show member pathways
8.5CHRNG, CHRND, CHRNA1
3
Show member pathways
8.5CHRNA1, CHRND, CHRNG
4
Show member pathways
8.5CHRNA1, CHRND, CHRNG
58.5CHRNG, CHRND, CHRNA1
6
Show member pathways
8.5CHRNA1, CHRND, CHRNG
7
Show member pathways
8.5CHRNG, CHRND, CHRNA1

Compounds for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine46 52 30 25 1212.6RAPSN, CHRND, CHRNA1
2galantamine46 52 1210.2CHRNG, CHRND, CHRNA1

GO Terms for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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17Gene Ontology
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Cellular components related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315949.1RAPSN, CHRNA1
2acetylcholine-gated channel complexGO:0058928.5CHRNG, CHRND, CHRNA1
3postsynaptic membraneGO:0452117.9CHRNA1, CHRND, CHRNG, RAPSN
4cell junctionGO:0300547.7RAPSN, CHRNG, CHRND, CHRNA1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle tissue growthGO:0486309.3CHRND, CHRNA1
2musculoskeletal movementGO:0508819.2CHRND, CHRNA1
3neuromuscular processGO:0509059.2CHRNA1, CHRND
4cation transportGO:0068129.0CHRNA1, CHRND
5muscle contractionGO:0069369.0CHRNG, CHRND
6regulation of membrane potentialGO:0423918.7CHRNA1, CHRND, CHRNG
7transportGO:0068108.5CHRNG, CHRND, CHRNA1
8signal transductionGO:0071658.5CHRNG, CHRND, CHRNA1
9synaptic transmissionGO:0072688.2RAPSN, CHRNG, CHRND, CHRNA1

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

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

Products for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Pterygium Syndrome Lethal 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