MCID: MLT134
MIFTS: 45

Multiple Pterygium Syndrome, Lethal Type malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Multiple Pterygium Syndrome, Lethal Type

About this section
Sources:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 49 11 22 67 65
Lmps 45 51 67
Pterygium Syndrome Multiple Lethal Type 45 24
 
Lethal Multiple Pterygium Syndrome 45 51
Autosomal Recessive Lethal Multiple Pterygium Syndrome 51
Multiple Pterygium Syndrome Lethal Type 45

Characteristics:

Orphanet epidemiological data:

51
lmps:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

61
multiple pterygium syndrome, lethal type:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 253290
Orphanet51 33108
ICD10 via Orphanet28 Q79.8
MESH via Orphanet37 C537378
UMLS via Orphanet66 C1854678
MedGen34 C1854678
UMLS65 C1854678

Summaries for Multiple Pterygium Syndrome, Lethal Type

About this section
NIH Rare Diseases:45 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 camptodactyly of finger, amniotic constriction ring and popliteal pterygium. 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 Postsynaptic nicotinic acetylcholine receptors. Affiliated tissues include lung, bone and heart, and related mouse phenotype nervous system.

UniProtKB/Swiss-Prot:67 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:49 253290

Related Diseases for Multiple Pterygium Syndrome, Lethal Type

About this section

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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1chrna1-related multiple pterygium syndrome, lethal type12.6
2chrnd-related multiple pterygium syndrome, lethal type12.6
3x-linked lethal multiple pterygium syndrome12.6
4escobar syndrome11.7
5lymphoma10.3
6ovarian epithelial cancer10.3
7endotheliitis10.3
8keratitis10.2
9listeria meningitis10.2
10hyperparathyroidism10.2
11meningitis10.2
12obesity10.1
13hepatitis c virus10.1
14cystic fibrosis10.1
15adenylosuccinase deficiency10.1
16metachromatic leukodystrophy10.1
17aicardi syndrome10.1
18brain injury10.1
19hemangioma10.1
20hepatitis10.1
21traumatic brain injury10.1
22gastric lymphoma10.1
23leukodystrophy10.1
24sarcoma10.1
25hypoparathyroidism10.1
26hepatitis c10.1
27cryoglobulinemia10.1
28substance abuse10.1
29mouth disease10.1
30myopathy10.1
31cavernous hemangioma10.1
32cerebrovascular disease10.1
33hypersomnia10.1
34interstitial lung disease10.0CHRND, CHRNG
35myasthenic syndrome, congenital, 3b, fast-channel9.9CHRNB1, CHRND
36myasthenic syndrome, congenital, 3a, slow-channel9.8CHRNB1, CHRND
37specific bursitis often of occupational origin9.8CHRNA1, CHRND, CHRNG
38myasthenic syndrome, congenital, 4b, fast-channel9.8CHRNB1, RAPSN
39myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency9.8CHRNB1, CHRND
40myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency9.8CHRNB1, RAPSN
41myasthenic syndrome, congenital, 1a, slow-channel9.7CHAT, CHRNA1, CHRND
42myasthenic syndrome, congenital, 1b, fast-channel9.7CHAT, CHRNA1, CHRND
43mycosis fungoides9.7CHRNA1, CHRNG, RAPSN
44leukemia, chronic lymphocytic 19.6CHRNB1, RAPSN
45slti salem syndrome9.6CHRNA1, CHRNB1, CHRND
46schimke immunoosseous dysplasia9.5CHRNA1, CHRND, CHRNG, RAPSN
47epileptic encephalopathy, early infantile, 259.5CHRNB1, RAPSN
48acute motor axonal neuropathy9.3CHRNA1, CHRNB1, CHRND, RAPSN
49reticulohistiocytic granuloma9.3CHRNA1, CHRNB1, CHRND, RAPSN
50oculoauricular syndrome9.0CHRNA1, 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

About this section

Symptoms by clinical synopsis from OMIM:

253290

Clinical features from OMIM:

253290

Symptoms:

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

Drugs & Therapeutics for Multiple Pterygium Syndrome, Lethal Type

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Multiple Pterygium Syndrome, Lethal Type

Genetic Tests for Multiple Pterygium Syndrome, Lethal Type

About this section

Genetic tests related to Multiple Pterygium Syndrome, Lethal Type:

id Genetic test Affiliating Genes
1 Multiple Pterygium Syndrome, Lethal Type22

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

About this section

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

33
Lung, Bone, Heart, Skin, Testes, Cerebellum, Skeletal muscle

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.9CHAT, CHRNA1, CHRNB1, CHRNG, RAPSN

Publications for Multiple Pterygium Syndrome, Lethal Type

About this section

Variations for Multiple Pterygium Syndrome, Lethal Type

About this section

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

67
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:

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_754delCTdeletionPathogenicrs767503038GRCh37Chr 2, 233407740: 233407741
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

About this section
Search GEO for disease gene expression data for Multiple Pterygium Syndrome, Lethal Type.

Pathways for genes affiliated with Multiple Pterygium Syndrome, Lethal Type

About this section

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

About this section

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation transportGO:000681210.0CHRNA1, CHRND
2synaptic transmissionGO:00072689.7CHRNA1, CHRND
3muscle contractionGO:00069369.7CHRNB1, CHRND
4ion transportGO:00068119.4CHRNA1, CHRND, CHRNG
5neuromuscular synaptic transmissionGO:00072749.3CHRNA1, CHRNB1, CHRND
6transportGO:00068108.8CHRNA1, CHRNB1, CHRND
7cation transmembrane transportGO:00986558.5CHRNA1, CHRNB1, CHRND, CHRNG
8synaptic transmission, cholinergicGO:00072718.5CHRNA1, CHRNB1, CHRND, CHRNG
9signal transductionGO:00071658.3CHRNA1, CHRNB1, CHRND, CHRNG

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.3CHRNB1, CHRNG
2extracellular ligand-gated ion channel activityGO:00052308.3CHRNA1, CHRNB1, CHRND, CHRNG
3acetylcholine receptor activityGO:00154648.2CHRNA1, CHRNB1, CHRND, CHRNG

Sources for Multiple Pterygium Syndrome, Lethal Type

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet