LMPS
MCID: MLT055
MIFTS: 39

Multiple Pterygium Syndrome Lethal Type (LMPS) malady

Fetal category

Summaries for Multiple Pterygium Syndrome Lethal Type

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 x-linked lethal multiple pterygium syndrome and chrna1-related multiple pterygium syndrome, lethal type, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and autosomal recessive inheritance. 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 skin, lung and heart.

Description from OMIM:47 253290

Aliases & Classifications for Multiple Pterygium Syndrome Lethal Type

Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43
pterygium syndrome multiple lethal type 43 20 22
multiple pterygium syndrome, lethal type 47 61
lethal multiple pterygium syndrome 43 49
lmps 43 49
autosomal recessive lethal multiple pterygium syndrome 49


External Ids:

OMIM47 253290
MESH via Orphanet36 C537378
ICD10 via Orphanet26 Q79.8
SNOMED-CT via Orphanet58 60192008
UMLS via Orphanet62 C1854678

Related Diseases for Multiple Pterygium Syndrome Lethal Type

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

253290

Clinical synopsis from OMIM:

253290

Symptoms:

49 (show all 39)
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • autosomal recessive inheritance
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • early death/lethality
  • synostosis
  • broad nose/nasal bridge
  • restricted joint mobility/joint stiffness/ankylosis
  • microcephaly
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • long philtrum
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • structural anomalies of the nervous system
  • epicanthic folds
  • short rib cage/thorax
  • microstomia/little mouth
  • x-linked recessive inheritance
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hydrops fetalis
  • webbed neck/pterygium colli
  • abnormal dermatoglyphics
  • cystic hygroma
  • arthrogryposis
  • 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

Drugs & Therapeutics for Multiple Pterygium Syndrome Lethal Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Multiple Pterygium Syndrome Lethal Type

Genetic Tests for Multiple Pterygium Syndrome Lethal Type

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Multiple Pterygium Syndrome Lethal Type:

33
Skin, Lung, Heart

Animal Models for Multiple Pterygium Syndrome Lethal Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Multiple Pterygium Syndrome Lethal Type

Genetic Variations for Multiple Pterygium Syndrome Lethal Type

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Multiple Pterygium Syndrome Lethal Type:

63
id Symbol AA change Variation SNP ID
1CHRNA1p.Arg254LeuVAR_043904
2CHRNDp.Phe95LeuVAR_043905
3CHRNGp.Val107GlyVAR_030753
4CHRNGp.Arg239CysVAR_030755

Expression for genes affiliated with Multiple Pterygium Syndrome Lethal Type

Sources:
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

Sources:
52QIAGEN, 54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Multiple Pterygium Syndrome Lethal Type

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine45 50 29 11 2412.6RAPSN, CHRND, CHRNA1
2galantamine45 50 1110.2CHRND, CHRNA1, CHRNG

GO Terms for genes affiliated with Multiple Pterygium Syndrome Lethal Type

Sources:
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:0486309.2CHRND, CHRNA1
2musculoskeletal movementGO:0508819.2CHRNA1, CHRND
3neuromuscular processGO:0509059.1CHRND, CHRNA1
4muscle contractionGO:0069369.0CHRND, CHRNG
5regulation of membrane potentialGO:0423918.7CHRNG, CHRNA1, CHRND
6signal transductionGO:0071658.5CHRND, CHRNA1, CHRNG
7transportGO:0068108.4CHRNG, CHRNA1, CHRND
8synaptic transmissionGO:0072688.2RAPSN, CHRND, CHRNA1, 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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet