MCID: MLT134
MIFTS: 44

Multiple Pterygium Syndrome, Lethal Type malady

Genetic diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Multiple Pterygium Syndrome, Lethal Type

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

Aliases & Descriptions for Multiple Pterygium Syndrome, Lethal Type:

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


Classifications:



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


External Ids:

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

Summaries for Multiple Pterygium Syndrome, Lethal Type

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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 pterygium syndrome multiple lethal type, 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 (Muscle)), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include lung, bone and heart.

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

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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 top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1chrna1-related multiple pterygium syndrome, lethal type10.6
2chrnd-related multiple pterygium syndrome, lethal type10.6
3x-linked lethal multiple pterygium syndrome10.5
4aphthous stomatitis10.3
5hydranencephaly10.3
6omphalocele10.3
7autosomal recessive multiple pterygium syndrome10.3
8greenberg skeletal dysplasia10.1
9hodgkin lymphoma10.1
10pfeiffer syndrome10.1
11burkitt lymphoma10.1
12lymphoma, non-hodgkin10.1
13hepatitis10.1
14hepatitis b10.1
15gamma chain deficiency10.1
16bowman's membrane folds or rupture10.1
17lymphosarcoma10.1
18lymphoepithelioma-like carcinoma10.1
19adult lymphoma10.1
20blood protein disease10.1
21excessive tearing10.1
22hypersensitivity reaction type iv disease10.1
23leukocyte disease10.1
24lymph node cancer10.1
25lymph node disease10.1
26lymphatic system cancer10.1
27lymphatic system disease10.1
28chronic active epstein-barr virus infection10.1
29lymphatic neoplasm10.1
30primary malignant lymphoma10.1
31myasthenic syndrome, congenital, 4b, fast-channel10.0CHRND, RAPSN
32myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.0CHRND, RAPSN
33epileptic encephalopathy, early infantile, 2510.0CHRND, RAPSN
34hepatocellular carcinoma10.0
35renal cell carcinoma10.0
36aplastic anemia10.0
37celiac disease10.0
38familial mediterranean fever, ar10.0
39b-cell lymphomas10.0
40muscle disorders10.0
41post-transplant lymphoproliferative disease10.0
42cystadenoma10.0
43tonsillitis10.0
44atopic dermatitis10.0
45bone leiomyosarcoma10.0
46bone lymphoma10.0
47secondary syphilis10.0
48adenocarcinoma10.0
49bone cancer10.0
50bone marrow cancer10.0

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:

 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 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 skeletal muscle atrophy 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 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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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 Multiple Pterygium Syndrome, Lethal Type22
2 Lethal Multiple Pterygium Syndrome24

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

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

33
Lung, Bone, Heart, Skin, Cerebellum, Testes, 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:

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

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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:00058929.3CHRNA1, CHRND, CHRNG
3neuron projectionGO:00430059.1CHRNA1, CHRND, CHRNG
4synapseGO:00452028.7CHRND, CHRNG, RAPSN
5postsynaptic membraneGO:00452118.4CHRNA1, CHRND, CHRNG, RAPSN
6cell junctionGO:00300548.3CHRNA1, CHRND, CHRNG, RAPSN

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular processGO:00509059.9CHRNA1, CHRND
2skeletal muscle contractionGO:00030099.8CHRNA1, CHRND
3neurological system processGO:00508779.8CHRND, CHRNG
4musculoskeletal movementGO:00508819.8CHRNA1, CHRND
5muscle contractionGO:00069369.7CHRND, CHRNG
6skeletal muscle tissue growthGO:00486309.6CHRNA1, CHRND
7response to nicotineGO:00350949.3CHRNA1, CHRND, CHRNG
8cation transportGO:00068129.3CHRNA1, CHRND, CHRNG
9neuromuscular synaptic transmissionGO:00072749.3CHRNA1, CHRND, CHRNG
10cation transmembrane transportGO:00986559.3CHRNA1, CHRND, CHRNG
11ion transportGO:00068119.1CHRNA1, CHRND, CHRNG
12transportGO:00068108.9CHRNA1, CHRND, CHRNG
13regulation of membrane potentialGO:00423918.9CHRNA1, CHRND, CHRNG
14synaptic transmission, cholinergicGO:00072718.8CHRNA1, CHRND, CHRNG, RAPSN
15synaptic transmissionGO:00072687.2CHAT, CHRNA1, CHRND, CHRNG, RAPSN

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:00048898.9CHRNA1, CHRND, CHRNG
2acetylcholine bindingGO:00421668.9CHRNA1, CHRND, CHRNG
3extracellular ligand-gated ion channel activityGO:00052308.8CHRNA1, CHRND, CHRNG
4acetylcholine receptor activityGO:00154648.6CHRNA1, CHRND, CHRNG

Sources for Multiple Pterygium Syndrome, Lethal Type

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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