LMPS
MCID: MLT134
MIFTS: 40

Multiple Pterygium Syndrome, Lethal Type (LMPS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Multiple Pterygium Syndrome, Lethal Type

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 52 24 70 12 68
Lmps 48 54 70
Pterygium Syndrome Multiple Lethal Type 48 27
 
Lethal Multiple Pterygium Syndrome 48 54
Autosomal Recessive Lethal Multiple Pterygium Syndrome 54
Multiple Pterygium Syndrome Lethal Type 48

Characteristics:

Orphanet epidemiological data:

54
lmps:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

64
multiple pterygium syndrome, lethal type:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 253290
Orphanet54 ORPHA33108
UMLS via Orphanet69 C1854678
ICD10 via Orphanet31 Q79.8
MESH via Orphanet40 C537378
MedGen37 C1854678

Summaries for Multiple Pterygium Syndrome, Lethal Type

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NIH Rare Diseases:48 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 LMPS, is related to chrna1-related multiple pterygium syndrome, lethal type and chrnd-related multiple pterygium syndrome, lethal type, and has symptoms including edema, edema and cleft palate. An important gene associated with Multiple Pterygium Syndrome, Lethal Type is CHRND (Cholinergic Receptor Nicotinic Delta Subunit), and among its related pathways are Agrin Interactions at Neuromuscular Junction and Activation of Nicotinic Acetylcholine Receptors. Affiliated tissues include bone, lung and heart, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot:70 Multiple pterygium syndrome, lethal type: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent.

Description from OMIM:52 253290

Related Diseases for Multiple Pterygium Syndrome, Lethal Type

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Diseases in the Multiple Pterygium Syndrome, Lethal Type family:

Chrna1-Related Multiple Pterygium Syndrome, Lethal Type Chrnd-Related Multiple Pterygium Syndrome, Lethal Type

Diseases related to Multiple Pterygium Syndrome, Lethal Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1chrna1-related multiple pterygium syndrome, lethal type12.1
2chrnd-related multiple pterygium syndrome, lethal type12.1
3escobar syndrome11.2
4multiple pterygium syndrome, x-linked11.0
5amelogenesis imperfecta, type iia510.0CHRND, CHRNG
6mycobacterium marinum10.0CHRNG, RAPSN
7sosby syndrome9.9CHRNA1, CHRND
8granulomatous orchitis9.9CHRND, CHRNG
9omphalocele9.8
10hydranencephaly9.8
11cascade stomach9.8CHRNA1, CHRND, CHRNG
12inverse marcus-gunn phenomenon9.8CHRNA1, CHRND, RAPSN
13acneiform dermatitis9.8CHRNA1, CHRND, RAPSN
14hepatitis9.8
15hepatitis b9.8
16conus medullaris neoplasm9.7CHRNA1, CHRND, RAPSN
17hepatocellular carcinoma9.6
18renal cell carcinoma9.6
19celiac disease9.6
20lymphoma9.6
21tonsillitis9.6
22brucellosis9.6
23esophagitis9.6
24squamous cell carcinoma9.6
25melanoma9.6
26cystadenoma9.6
27dermatitis9.6
28adenocarcinoma9.6
29ovarian cystadenoma9.6
30embryonal carcinoma9.6
31atopic dermatitis9.6
32lymphoepithelioma-like carcinoma9.6
33psoriasis9.6
34tooth agenesis, selective, 1, with or without orofacial cleft9.6CHRNA1, CHRND, CHRNG, RAPSN
35snowflake vitreoretinal degeneration9.5CHRNA1, CHRND, CHRNG, RYR1
36neonatal stroke9.5CHRNA1, CHRNG, RAPSN, RYR1
37mesomelic dysplasia, kantaputra type9.3CHRNA1, CHRND, CHRNG, RAPSN, RYR1

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



Diseases related to multiple pterygium syndrome, lethal type

Symptoms & Phenotypes for Multiple Pterygium Syndrome, Lethal Type

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Symptoms by clinical synopsis from OMIM:

253290

Clinical features from OMIM:

253290

Human phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 epicanthus64 HP:0000286
3 hypertelorism64 HP:0000316
4 micrognathia64 HP:0000347
5 low-set ears64 HP:0000369
6 depressed nasal ridge64 HP:0000457
7 cystic hygroma64 HP:0000476
8 thin ribs64 HP:0000883
9 edema64 HP:0000969
10 multiple pterygia64 HP:0001040
11 flexion contracture64 HP:0001371
12 joint dislocation64 HP:0001373
13 intrauterine growth retardation64 HP:0001511
14 polyhydramnios64 HP:0001561
15 hypoplastic heart64 HP:0001961
16 fetal akinesia sequence64 HP:0001989
17 abnormal facial shape64 HP:0001999
18 malignant hyperthermia64 HP:0002047
19 pulmonary hypoplasia64 HP:0002089
20 akinesia64 HP:0002304
21 increased susceptibility to fractures64 HP:0002659
22 vertebral fusion64 HP:0002948
23 amyoplasia64 HP:0003634
24 abnormal cervical curvature64 HP:0005905
25 short finger64 HP:0009381

UMLS symptoms related to Multiple Pterygium Syndrome, Lethal Type:


edema

GenomeRNAi Phenotypes related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.3CHRNA1, RAPSN

Drugs & Therapeutics for Multiple Pterygium Syndrome, Lethal Type

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Interventional clinical trials:

Search ClinicalTrials, 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 Lethal Multiple Pterygium Syndrome27
2 Multiple Pterygium Syndrome, Lethal Type24

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

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

36
Bone, Lung, Heart, Skin

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:

70
id Symbol AA change Variation ID SNP ID
1CHRNA1p.Arg254LeuVAR_043904rs137852809
2CHRNDp.Phe95LeuVAR_043905rs121909506
3CHRNGp.Val107GlyVAR_030753rs267606726
4CHRNGp.Arg239CysVAR_030755rs121912670

Clinvar genetic disease variations for Multiple Pterygium Syndrome, Lethal Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHRNGNM_ 005199.4(CHRNG): c.715C> T (p.Arg239Cys)SNVPathogenicrs121912670GRCh37Chr 2, 233407702: 233407702
2CHRNGNM_ 005199.4(CHRNG): c.320T> G (p.Val107Gly)SNVPathogenicrs267606726GRCh37Chr 2, 233405391: 233405391
3CHRNGNM_ 005199.4(CHRNG): c.753_ 754delCT (p.Val253Alafs)deletionPathogenicrs767503038GRCh37Chr 2, 233407740: 233407741
4CHRNDNM_ 000751.2(CHRND): c.234G> A (p.Trp78Ter)SNVPathogenicrs121909505GRCh37Chr 2, 233392146: 233392146
5CHRNDNM_ 000751.2(CHRND): c.283T> C (p.Phe95Leu)SNVPathogenicrs121909506GRCh37Chr 2, 233393011: 233393011
6CHRNDNM_ 000751.2(CHRND): c.1390C> T (p.Arg464Ter)SNVPathogenicrs121909507GRCh37Chr 2, 233399858: 233399858
7CHRNA1NM_ 001039523.2(CHRNA1): c.761G> T (p.Arg254Leu)SNVPathogenicrs137852809GRCh37Chr 2, 175618323: 175618323
8CHRNA1CHRNA1, 17-BP DUP, NT117duplicationPathogenic
9CHRNGCHRNG, 1-BP DUP, 459AduplicationPathogenic
10CHRNDNM_ 000751.2(CHRND): c.1374_ 1375delGA (p.Lys459Argfs)deletionLikely pathogenicrs1060499782GRCh38Chr 2, 232535132: 232535133

Expression for genes affiliated with Multiple Pterygium Syndrome, Lethal Type

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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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:003159410.1CHRNA1, RAPSN
2acetylcholine-gated channel complexGO:00058929.7CHRNA1, CHRND, CHRNG
3cell junctionGO:00300549.1CHRNA1, CHRND, CHRNG, RAPSN
4postsynaptic membraneGO:00452119.0CHRNA1, CHRND, CHRNG, RAPSN
5synapseGO:00452028.4CHRNA1, CHRND, CHRNG, RAPSN
6plasma membraneGO:00058868.2CHRNA1, CHRND, CHRNG, RAPSN, RYR1

Biological processes related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cation transportGO:000681210.2CHRNA1, CHRND
2musculoskeletal movementGO:005088110.1CHRNA1, CHRND
3neuromuscular processGO:005090510.1CHRNA1, CHRND
4regulation of membrane potentialGO:004239110.1CHRNA1, CHRND
5skeletal muscle contractionGO:000300910.1CHRNA1, CHRND
6skeletal muscle tissue growthGO:004863010.1CHRNA1, CHRND
7cation transmembrane transportGO:00986559.6CHRNA1, CHRND, CHRNG
8excitatory postsynaptic potentialGO:00600799.6CHRNA1, CHRND, CHRNG
9neuromuscular synaptic transmissionGO:00072749.6CHRNA1, CHRND, CHRNG
10regulation of postsynaptic membrane potentialGO:00600789.6CHRNA1, CHRND, CHRNG
11response to nicotineGO:00350949.6CHRNA1, CHRND, CHRNG
12muscle contractionGO:00069369.4CHRND, CHRNG, RYR1
13ion transmembrane transportGO:00342209.3CHRNA1, CHRND, RYR1
14synaptic transmission, cholinergicGO:00072719.1CHRNA1, CHRND, CHRNG, RAPSN
15ion transportGO:00068118.8CHRNA1, CHRND, CHRNG, RYR1
16transportGO:00068108.1CHRNA1, CHRND, CHRNG, RYR1

Molecular functions related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:00154649.9CHRNA1, CHRNG
2acetylcholine bindingGO:00421669.5CHRNA1, CHRND, CHRNG
3acetylcholine-gated cation-selective channel activityGO:00228489.5CHRNA1, CHRND, CHRNG
4extracellular ligand-gated ion channel activityGO:00052309.4CHRNA1, CHRND, CHRNG
5ion channel activityGO:00052169.0CHRNA1, CHRND, RYR1
6ligand-gated ion channel activityGO:00152768.9CHRNA1, CHRND, CHRNG

Sources for Multiple Pterygium Syndrome, Lethal Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet