MCID: MLT134
MIFTS: 44

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:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 50 23 68 12 66
Lethal Multiple Pterygium Syndrome 46 52 25
Lmps 46 52 68
 
Autosomal Recessive Lethal Multiple Pterygium Syndrome 52
Multiple Pterygium Syndrome Lethal Type 46
Pterygium Syndrome Multiple Lethal Type 46

Characteristics:

Orphanet epidemiological data:

52
lethal multiple pterygium syndrome:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
multiple pterygium syndrome, lethal type:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 253290
Orphanet52 ORPHA33108
ICD10 via Orphanet29 Q79.8
MESH via Orphanet38 C537378
UMLS via Orphanet67 C1854678
MedGen35 C1854678

Summaries for Multiple Pterygium Syndrome, Lethal Type

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NIH Rare Diseases:46 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 lethal multiple pterygium syndrome, 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 Acetylcholine Binding And Downstream Events. Affiliated tissues include lung, bone and heart, and related mouse phenotype nervous system.

UniProtKB/Swiss-Prot:68 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:50 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1chrna1-related multiple pterygium syndrome, lethal type12.2
2chrnd-related multiple pterygium syndrome, lethal type12.2
3escobar syndrome11.3
4multiple pterygium syndrome, x-linked11.2
5gingival overgrowth10.0CHRND, CHRNG
6omphalocele9.9
7hydranencephaly9.9
8hepatitis9.9
9hepatitis b9.9
10myasthenic syndrome, congenital, 3b, fast-channel9.8CHRNB1, CHRND
11hepatocellular carcinoma9.8
12renal cell carcinoma9.8
13celiac disease9.8
14lymphoma9.8
15tonsillitis9.8
16brucellosis9.8
17esophagitis9.8
18melanoma9.8
19cystadenoma9.8
20dermatitis9.8
21adenocarcinoma9.8
22ovarian cystadenoma9.8
23embryonal carcinoma9.8
24atopic dermatitis9.8
25lymphoepithelioma-like carcinoma9.8
26psoriasis9.8
27myasthenic syndrome, congenital, 3a, slow-channel9.7CHRNB1, CHRND
28plica syndrome9.7CHRNA1, CHRND, CHRNG
29myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency9.7CHRNB1, RAPSN
30myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency9.6CHRNB1, CHRND
31epileptic encephalopathy, early infantile, 259.6CHRNB1, RAPSN
32myasthenic syndrome, congenital, 1a, slow-channel9.6CHAT, CHRNA1, CHRND
33myasthenic syndrome, congenital, 1b, fast-channel9.6CHAT, CHRNA1, CHRND
34myelofibrosis9.6CHRNA1, CHRNG, RAPSN
35leukemia, chronic lymphocytic 19.4CHRNB1, RAPSN
36congenital myasthenic syndrome associated with acetylcholine receptor deficiency9.4CHRNA1, CHRNB1, CHRND
37mitochondrial complex iii deficiency, nuclear type 29.2CHRNB1, RAPSN
38snowflake vitreoretinal degeneration9.0CHRNA1, CHRNB1, CHRND, CHRNG
39multiple system atrophy, parkinsonian type8.9CHRNA1, CHRNB1, CHRND, RAPSN
40granulomatous dermatitis8.9CHRNA1, CHRNB1, CHRND, RAPSN
41oculoauricular syndrome8.5CHRNA1, CHRNB1, CHRND, CHRNG, RAPSN
42spinal cord intramedullary teratoma8.3CHAT, CHRNA1, CHRNB1, CHRND, RAPSN
43multiple pterygium syndrome, lethal type7.9CHAT, CHRNA1, CHRNB1, CHRND, CHRNG, RAPSN

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

HPO human phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

(show all 56)
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 intestinal malrotation occasional (7.5%) HP:0002566
27 skeletal muscle atrophy occasional (7.5%) HP:0003202
28 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
29 abnormal dermatoglyphics occasional (7.5%) HP:0007477
30 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
31 synostosis of joints occasional (7.5%) HP:0100240
32 cleft palate HP:0000175
33 epicanthus HP:0000286
34 hypertelorism HP:0000316
35 micrognathia HP:0000347
36 low-set ears HP:0000369
37 depressed nasal ridge HP:0000457
38 cystic hygroma HP:0000476
39 thin ribs HP:0000883
40 edema HP:0000969
41 multiple pterygia HP:0001040
42 flexion contracture HP:0001371
43 joint dislocation HP:0001373
44 intrauterine growth retardation HP:0001511
45 polyhydramnios HP:0001561
46 hypoplastic heart HP:0001961
47 fetal akinesia sequence HP:0001989
48 abnormal facial shape HP:0001999
49 malignant hyperthermia HP:0002047
50 pulmonary hypoplasia HP:0002089
51 akinesia HP:0002304
52 increased susceptibility to fractures HP:0002659
53 vertebral fusion HP:0002948
54 amyoplasia HP:0003634
55 abnormal cervical curvature HP:0005905
56 short finger 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 Syndrome25
2 Multiple Pterygium Syndrome, Lethal Type23

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

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

34
Lung, Bone, Heart, Skin, Cerebellum, Skeletal muscle

Animal Models for Multiple Pterygium Syndrome, Lethal Type or affiliated genes

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MGI Mouse Phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8CHAT, CHRNA1, CHRNB1, CHRNG, RAPSN

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:

68
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)single nucleotide variantPathogenicrs121912670GRCh37Chr 2, 233407702: 233407702
2CHRNGNM_005199.4(CHRNG): c.320T> G (p.Val107Gly)single nucleotide variantPathogenicrs267606726GRCh37Chr 2, 233405391: 233405391
3CHRNGNM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs)deletionPathogenicrs767503038GRCh38Chr 2, 232543030: 232543031
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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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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Pathways related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4CHRNA1, RAPSN
2
Show member pathways
9.1CHRNA1, CHRND, CHRNG
38.7CHRNA1, CHRNB1, CHRND
4
Show member pathways
8.5CHAT, CHRNA1, CHRND, CHRNG
5
Show member pathways
8.3CHRNA1, CHRNB1, CHRND, CHRNG
6
Show member pathways
8.3CHRNA1, CHRNB1, CHRND, CHRNG

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:00315949.6CHRNA1, RAPSN
2acetylcholine-gated channel complexGO:00058928.8CHRNA1, CHRNB1, CHRND, CHRNG
3postsynaptic membraneGO:00452117.7CHRNA1, CHRNB1, CHRND, CHRNG, RAPSN
4cell junctionGO:00300547.7CHRNA1, CHRNB1, CHRND, CHRNG, RAPSN

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:005090510.1CHRNA1, CHRND
2musculoskeletal movementGO:005088110.1CHRNA1, CHRND
3skeletal muscle tissue growthGO:00486309.8CHRNA1, CHRND
4transportGO:00068109.4CHRNA1, CHRND, CHRNG
5skeletal muscle contractionGO:00030099.3CHRNA1, CHRNB1, CHRND
6cation transportGO:00068129.2CHRNA1, CHRNB1, CHRND
7muscle contractionGO:00069369.0CHRNB1, CHRND, CHRNG
8response to nicotineGO:00350949.0CHRNA1, CHRND, CHRNG
9regulation of membrane potentialGO:00423919.0CHRNA1, CHRNB1, CHRND
10cation transmembrane transportGO:00986558.8CHRNA1, CHRNB1, CHRND, CHRNG
11neuromuscular synaptic transmissionGO:00072748.8CHRNA1, CHRNB1, CHRND, CHRNG
12synaptic transmission, cholinergicGO:00072718.3CHRNA1, CHRNB1, CHRND, CHRNG, RAPSN
13signal transductionGO:00071658.3CHRNA1, CHRNB1, CHRND, CHRNG
14chemical synaptic transmission, postsynapticGO:00995658.0CHRNA1, CHRNB1, CHRND, CHRNG

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.4CHRNB1, CHRNG
2acetylcholine receptor activityGO:00154648.5CHRNA1, CHRNB1, CHRND, CHRNG
3acetylcholine-activated cation-selective channel activityGO:00048898.4CHRNA1, CHRNB1, CHRND, CHRNG
4acetylcholine bindingGO:00421668.4CHRNA1, CHRNB1, CHRND, CHRNG
5ligand-gated ion channel activityGO:00152768.3CHRNA1, CHRNB1, CHRND, CHRNG

Sources for Multiple Pterygium Syndrome, Lethal Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet