MCID: MLT134
MIFTS: 41

Multiple Pterygium Syndrome, Lethal Type malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Multiple Pterygium Syndrome, Lethal Type

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 51 24 69 12 67
Lmps 47 53 69
Pterygium Syndrome Multiple Lethal Type 47 26
 
Lethal Multiple Pterygium Syndrome 47 53
Autosomal Recessive Lethal Multiple Pterygium Syndrome 53
Multiple Pterygium Syndrome Lethal Type 47

Characteristics:

Orphanet epidemiological data:

53
lmps:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

63
multiple pterygium syndrome, lethal type:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 253290
Orphanet53 ORPHA33108
UMLS via Orphanet68 C1854678
ICD10 via Orphanet30 Q79.8
MESH via Orphanet39 C537378
MedGen36 C1854678

Summaries for Multiple Pterygium Syndrome, Lethal Type

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NIH Rare Diseases:47 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 epicanthus, abnormality of the nose and webbed neck. 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 Transmission across Chemical Synapses. Affiliated tissues include lung, bone and heart.

UniProtKB/Swiss-Prot:69 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:51 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 36)
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
5myasthenic syndrome, congenital, 1a, slow-channel9.9CHRNA1, CHRND
6myasthenic syndrome, congenital, 1b, fast-channel9.9CHRNA1, CHRND
7gingival overgrowth9.9CHRND, CHRNG
8congenital myasthenic syndrome associated with acetylcholine receptor deficiency9.8CHRNA1, CHRND
9omphalocele9.8
10hydranencephaly9.8
11hepatitis9.8
12hepatitis b9.8
13hepatocellular carcinoma9.6
14renal cell carcinoma9.6
15celiac disease9.6
16lymphoma9.6
17tonsillitis9.6
18brucellosis9.6
19esophagitis9.6
20cystadenoma9.6
21dermatitis9.6
22adenocarcinoma9.6
23ovarian cystadenoma9.6
24embryonal carcinoma9.6
25atopic dermatitis9.6
26lymphoepithelioma-like carcinoma9.6
27psoriasis9.6
28multiple system atrophy, parkinsonian type9.5CHRNA1, CHRND, RAPSN
29plica syndrome9.5CHRNA1, CHRND, CHRNG
30granulomatous dermatitis9.5CHRNA1, CHRND, RAPSN
31spinal cord intramedullary teratoma9.5CHRNA1, CHRND, RAPSN
32occupational dermatitis9.5RAPSN, RYR1
33myelofibrosis9.4CHRNA1, CHRNG, RAPSN
34porencephaly9.3RAPSN, RYR1
35oculoauricular syndrome9.1CHRNA1, CHRND, CHRNG, RAPSN
36snowflake vitreoretinal degeneration8.8CHRNA1, CHRND, CHRNG, RYR1

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

Human phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

 63 (show all 48)
id Description HPO Frequency HPO Source Accession
1 epicanthus63 hallmark (90%) HP:0000286
2 abnormality of the nose63 hallmark (90%) HP:0000366
3 webbed neck63 hallmark (90%) HP:0000465
4 cystic hygroma63 hallmark (90%) HP:0000476
5 upslanted palpebral fissure63 hallmark (90%) HP:0000582
6 limitation of joint mobility63 hallmark (90%) HP:0001376
7 intrauterine growth retardation63 hallmark (90%) HP:0001511
8 polyhydramnios63 hallmark (90%) HP:0001561
9 hydrops fetalis63 hallmark (90%) HP:0001789
10 arthrogryposis multiplex congenita63 hallmark (90%) HP:0002804
11 popliteal pterygium63 hallmark (90%) HP:0009756
12 amniotic constriction ring63 hallmark (90%) HP:0009775
13 camptodactyly of finger63 hallmark (90%) HP:0100490
14 narrow mouth63 typical (50%) HP:0000160
15 cleft palate63 typical (50%) HP:0000175
16 hypertelorism63 typical (50%) HP:0000316
17 long philtrum63 typical (50%) HP:0000343
18 micrognathia63 typical (50%) HP:0000347
19 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
20 aplasia/hypoplasia of the lungs63 typical (50%) HP:0006703
21 short thorax63 typical (50%) HP:0010306
22 cryptorchidism63 occasional (7.5%) HP:0000028
23 microcephaly63 occasional (7.5%) HP:0000252
24 congenital diaphragmatic hernia63 occasional (7.5%) HP:0000776
25 malignant hyperthermia63 occasional (7.5%) HP:0002047
26 intestinal malrotation63 occasional (7.5%) HP:0002566
27 skeletal muscle atrophy63 occasional (7.5%) HP:0003202
28 aplasia/hypoplasia of the cerebellum63 occasional (7.5%) HP:0007360
29 abnormal dermatoglyphics63 occasional (7.5%) HP:0007477
30 abnormality of the upper urinary tract63 occasional (7.5%) HP:0010935
31 synostosis of joints63 occasional (7.5%) HP:0100240
32 low-set ears63 HP:0000369
33 depressed nasal ridge63 HP:0000457
34 thin ribs63 HP:0000883
35 edema63 HP:0000969
36 multiple pterygia63 HP:0001040
37 flexion contracture63 HP:0001371
38 joint dislocation63 HP:0001373
39 hypoplastic heart63 HP:0001961
40 fetal akinesia sequence63 HP:0001989
41 abnormal facial shape63 HP:0001999
42 pulmonary hypoplasia63 HP:0002089
43 akinesia63 HP:0002304
44 increased susceptibility to fractures63 HP:0002659
45 vertebral fusion63 HP:0002948
46 amyoplasia63 HP:0003634
47 abnormal cervical curvature63 HP:0005905
48 short finger63 HP:0009381

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 Syndrome26
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:

35
Lung, Bone, Heart, Skin, Cerebellum, Skeletal muscle

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:

69
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, NT117duplicationPathogenicChr na, -1: -1
9CHRNGCHRNG, 1-BP DUP, 459AduplicationPathogenicChr na, -1: -1

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:00315949.8CHRNA1, RAPSN
2acetylcholine-gated channel complexGO:00058929.5CHRNA1, CHRND, CHRNG
3postsynaptic membraneGO:00452118.5CHRNA1, CHRND, CHRNG, RAPSN
4cell junctionGO:00300548.3CHRNA1, CHRND, CHRNG, RAPSN
5plasma membraneGO:00058867.5CHRNA1, CHRND, CHRNG, RAPSN, RYR1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:005090510.0CHRNA1, CHRND
2musculoskeletal movementGO:005088110.0CHRNA1, CHRND
3skeletal muscle contractionGO:000300910.0CHRNA1, CHRND
4cation transportGO:00068129.9CHRNA1, CHRND
5skeletal muscle tissue growthGO:00486309.7CHRNA1, CHRND
6regulation of membrane potentialGO:00423919.5CHRNA1, CHRND
7neuromuscular synaptic transmissionGO:00072749.4CHRNA1, CHRND, CHRNG
8cation transmembrane transportGO:00986559.4CHRNA1, CHRND, CHRNG
9synaptic transmission, cholinergicGO:00072718.9CHRNA1, CHRND, CHRNG, RAPSN
10transportGO:00068108.9CHRNA1, CHRND, CHRNG
11chemical synaptic transmission, postsynapticGO:00995658.9CHRNA1, CHRND, CHRNG
12response to nicotineGO:00350948.6CHRNA1, CHRND, CHRNG
13muscle contractionGO:00069368.6CHRND, CHRNG, RYR1

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

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-activated cation-selective channel activityGO:00048899.2CHRNA1, CHRND, CHRNG
2acetylcholine receptor activityGO:00154649.0CHRNA1, CHRND, CHRNG
3acetylcholine bindingGO:00421669.0CHRNA1, CHRND, CHRNG
4ligand-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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet