LMPS
MCID: MLT055
MIFTS: 46

Multiple Pterygium Syndrome Lethal Type (LMPS) malady

Genetic diseases, Rare diseases, Fetal diseases categories
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Summaries for Multiple Pterygium Syndrome Lethal Type

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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 based summary: 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 upslanted palpebral fissures/mongoloid slanting palpebral fissures, epicanthic folds and broad nose/nasal bridge. 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 heart.

Description from OMIM:46 253290

Aliases & Classifications for Multiple Pterygium Syndrome Lethal Type

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Multiple Pterygium Syndrome Lethal Type, Aliases & Descriptions:

Name: Multiple Pterygium Syndrome Lethal Type 42
Pterygium Syndrome Multiple Lethal Type 42 20 22
Lmps 42 48 62
 
Multiple Pterygium Syndrome, Lethal Type 46 62
Lethal Multiple Pterygium Syndrome 42 48
Autosomal Recessive Lethal Multiple Pterygium Syndrome 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C537378
ICD10 via Orphanet26 Q79.8
UMLS via Orphanet63 C1854678
OMIM46 253290

Related Diseases for Multiple Pterygium Syndrome Lethal Type

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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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Symptoms by clinical synopsis from OMIM:

253290

Clinical features from OMIM:

253290

Symptoms:

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

HPO human phenotypes related to Multiple Pterygium Syndrome Lethal Type:

(show all 58)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 abnormality of the nose hallmark (90%) HP:0000366
3 webbed neck hallmark (90%) HP:0000465
4 cystic hygroma hallmark (90%) HP:0000476
5 upslanted palpebral fissure hallmark (90%) HP:0000582
6 limitation of joint mobility hallmark (90%) HP:0001376
7 intrauterine growth retardation hallmark (90%) HP:0001511
8 polyhydramnios hallmark (90%) HP:0001561
9 hydrops fetalis hallmark (90%) HP:0001789
10 arthrogryposis multiplex congenita hallmark (90%) HP:0002804
11 popliteal pterygium hallmark (90%) HP:0009756
12 amniotic constriction ring hallmark (90%) HP:0009775
13 camptodactyly of finger hallmark (90%) HP:0100490
14 narrow mouth typical (50%) HP:0000160
15 cleft palate typical (50%) HP:0000175
16 hypertelorism typical (50%) HP:0000316
17 long philtrum typical (50%) HP:0000343
18 micrognathia typical (50%) HP:0000347
19 low-set, posteriorly rotated ears typical (50%) HP:0000368
20 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
21 short thorax typical (50%) HP:0010306
22 cryptorchidism occasional (7.5%) HP:0000028
23 microcephaly occasional (7.5%) HP:0000252
24 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
25 malignant hyperthermia occasional (7.5%) HP:0002047
26 malformation of the heart and great vessels occasional (7.5%) HP:0002564
27 intestinal malrotation occasional (7.5%) HP:0002566
28 amyotrophy occasional (7.5%) HP:0003202
29 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
30 abnormal dermatoglyphics occasional (7.5%) HP:0007477
31 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
32 synostosis of joints occasional (7.5%) HP:0100240
33 autosomal recessive inheritance HP:0000007
34 cleft palate HP:0000175
35 epicanthus HP:0000286
36 hypertelorism HP:0000316
37 micrognathia HP:0000347
38 low-set ears HP:0000369
39 depressed nasal ridge HP:0000457
40 cystic hygroma HP:0000476
41 thin ribs HP:0000883
42 edema HP:0000969
43 multiple pterygia HP:0001040
44 flexion contracture HP:0001371
45 joint dislocation HP:0001373
46 intrauterine growth retardation HP:0001511
47 polyhydramnios HP:0001561
48 hypoplastic heart HP:0001961
49 fetal akinesia sequence HP:0001989
50 abnormal facial shape HP:0001999
51 malignant hyperthermia HP:0002047
52 pulmonary hypoplasia HP:0002089
53 akinesia HP:0002304
54 increased susceptibility to fractures HP:0002659
55 vertebral fusion HP:0002948
56 generalized amyoplasia HP:0003634
57 abnormal cervical curvature HP:0005905
58 short finger HP:0009381

Drugs & Therapeutics for Multiple Pterygium Syndrome Lethal Type

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Drug clinical trials:

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Search NIH Clinical Center for Multiple Pterygium Syndrome Lethal Type

Genetic Tests for Multiple Pterygium Syndrome Lethal Type

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

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

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

64
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:

6
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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Expression patterns in normal tissues for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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Pathways for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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

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

Compounds for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Multiple Pterygium Syndrome Lethal Type according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acetylcholine44 50 28 24 1112.6RAPSN, CHRND, CHRNA1
2galantamine44 50 1110.2CHRNG, CHRND, CHRNA1

GO Terms for genes affiliated with Multiple Pterygium Syndrome Lethal Type

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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:0452117.9CHRND, CHRNG, RAPSN, CHRNA1
4cell junctionGO:0300547.7CHRND, CHRNG, RAPSN, 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:0486309.3CHRNA1, CHRND
2musculoskeletal movementGO:0508819.2CHRND, CHRNA1
3neuromuscular processGO:0509059.2CHRND, CHRNA1
4cation transportGO:0068129.0CHRNA1, CHRND
5muscle contractionGO:0069369.0CHRND, CHRNG
6regulation of membrane potentialGO:0423918.7CHRND, CHRNG, CHRNA1
7transportGO:0068108.5CHRND, CHRNA1, CHRNG
8signal transductionGO:0071658.5CHRNG, CHRND, CHRNA1
9synaptic transmissionGO:0072688.2CHRNG, RAPSN, CHRNA1, CHRND

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet