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

Aliases & Descriptions for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 54 24 66 13 69
Lmps 50 56 66
Pterygium Syndrome Multiple Lethal Type 50 29
Lethal Multiple Pterygium Syndrome 50 56
Autosomal Recessive Lethal Multiple Pterygium Syndrome 56
Multiple Pterygium Syndrome Lethal Type 50

Characteristics:

Orphanet epidemiological data:

56
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:

32
multiple pterygium syndrome, lethal type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 253290
Orphanet 56 ORPHA33108
UMLS via Orphanet 70 C1854678
ICD10 via Orphanet 34 Q79.8
MESH via Orphanet 43 C537378
MedGen 40 C1854678

Summaries for Multiple Pterygium Syndrome, Lethal Type

NIH Rare Diseases : 50 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, hypertelorism and low-set ears. An important gene associated with Multiple Pterygium Syndrome, Lethal Type is CHRND (Cholinergic Receptor Nicotinic Delta Subunit), and among its related pathways/superpathways are CREB Pathway and Transmission across Chemical Synapses. Affiliated tissues include lung, bone and heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot : 66 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: 253290

Related Diseases for Multiple Pterygium Syndrome, Lethal Type

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)
id Related Disease Score Top Affiliating Genes
1 chrna1-related multiple pterygium syndrome, lethal type 12.1
2 chrnd-related multiple pterygium syndrome, lethal type 12.1
3 escobar syndrome 11.2
4 multiple pterygium syndrome, x-linked 11.0
5 mycobacterium marinum 10.0 CHRNG RAPSN
6 amelogenesis imperfecta, type iia5 10.0 CHRND CHRNG
7 sosby syndrome 9.9 CHRNA1 CHRND
8 granulomatous orchitis 9.9 CHRND CHRNG
9 hydranencephaly 9.8
10 omphalocele 9.8
11 cascade stomach 9.8 CHRNA1 CHRND CHRNG
12 inverse marcus-gunn phenomenon 9.8 CHRNA1 CHRND RAPSN
13 acneiform dermatitis 9.8 CHRNA1 CHRND RAPSN
14 hepatitis 9.8
15 hepatitis b 9.8
16 conus medullaris neoplasm 9.7 CHRNA1 CHRND RAPSN
17 brucellosis 9.6
18 esophagitis 9.6
19 squamous cell carcinoma 9.6
20 melanoma 9.6
21 cystadenoma 9.6
22 dermatitis 9.6
23 hepatocellular carcinoma 9.6
24 adenocarcinoma 9.6
25 renal cell carcinoma 9.6
26 ovarian cystadenoma 9.6
27 celiac disease 9.6
28 embryonal carcinoma 9.6
29 atopic dermatitis 9.6
30 lymphoepithelioma-like carcinoma 9.6
31 psoriasis 9.6
32 lymphoma 9.6
33 tonsillitis 9.6
34 tooth agenesis, selective, 1, with or without orofacial cleft 9.6 CHRNA1 CHRND CHRNG RAPSN
35 snowflake vitreoretinal degeneration 9.5 CHRNA1 CHRND CHRNG RYR1
36 neonatal stroke 9.5 CHRNA1 CHRNG RAPSN RYR1
37 mesomelic dysplasia, kantaputra type 9.3 CHRNA1 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

Symptoms by clinical synopsis from OMIM:

253290

Clinical features from OMIM:

253290

Human phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 joint dislocation 32 HP:0001373
5 abnormal facial shape 32 HP:0001999
6 flexion contracture 32 HP:0001371
7 cleft palate 32 HP:0000175
8 micrognathia 32 HP:0000347
9 epicanthus 32 HP:0000286
10 cystic hygroma 32 HP:0000476
11 depressed nasal ridge 32 HP:0000457
12 thin ribs 32 HP:0000883
13 intrauterine growth retardation 32 HP:0001511
14 polyhydramnios 32 HP:0001561
15 vertebral fusion 32 HP:0002948
16 malignant hyperthermia 32 HP:0002047
17 short finger 32 HP:0009381
18 pulmonary hypoplasia 32 HP:0002089
19 increased susceptibility to fractures 32 HP:0002659
20 akinesia 32 HP:0002304
21 multiple pterygia 32 HP:0001040
22 fetal akinesia sequence 32 HP:0001989
23 amyoplasia 32 HP:0003634
24 hypoplastic heart 32 HP:0001961
25 abnormal cervical curvature 32 HP:0005905

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 8.62 CHRNA1 RAPSN

Drugs & Therapeutics for Multiple Pterygium Syndrome, Lethal Type

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

Genetic Tests for Multiple Pterygium Syndrome, Lethal Type

Genetic tests related to Multiple Pterygium Syndrome, Lethal Type:

id Genetic test Affiliating Genes
1 Lethal Multiple Pterygium Syndrome 29
2 Multiple Pterygium Syndrome, Lethal Type 24

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

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

39
Lung, Bone, Heart, Skin

Publications for Multiple Pterygium Syndrome, Lethal Type

Variations for Multiple Pterygium Syndrome, Lethal Type

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

66
id Symbol AA change Variation ID SNP ID
1 CHRNA1 p.Arg254Leu VAR_043904 rs137852809
2 CHRND p.Phe95Leu VAR_043905 rs121909506
3 CHRNG p.Val107Gly VAR_030753 rs267606726
4 CHRNG p.Arg239Cys VAR_030755 rs121912670

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHRNG NM_005199.4(CHRNG): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs121912670 GRCh37 Chromosome 2, 233407702: 233407702
2 CHRNG NM_005199.4(CHRNG): c.320T> G (p.Val107Gly) single nucleotide variant Pathogenic rs267606726 GRCh37 Chromosome 2, 233405391: 233405391
3 CHRNG NM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs) deletion Pathogenic rs767503038 GRCh37 Chromosome 2, 233407740: 233407741
4 CHRND NM_000751.2(CHRND): c.234G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs121909505 GRCh37 Chromosome 2, 233392146: 233392146
5 CHRND NM_000751.2(CHRND): c.283T> C (p.Phe95Leu) single nucleotide variant Pathogenic rs121909506 GRCh37 Chromosome 2, 233393011: 233393011
6 CHRND NM_000751.2(CHRND): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs121909507 GRCh37 Chromosome 2, 233399858: 233399858
7 CHRNA1 NM_001039523.2(CHRNA1): c.761G> T (p.Arg254Leu) single nucleotide variant Pathogenic rs137852809 GRCh37 Chromosome 2, 175618323: 175618323
8 CHRNA1 CHRNA1, 17-BP DUP, NT117 duplication Pathogenic
9 CHRNG CHRNG, 1-BP DUP, 459A duplication Pathogenic
10 CHRND NM_000751.2(CHRND): c.1374_1375delGA (p.Lys459Argfs) deletion Likely pathogenic rs1060499782 GRCh38 Chromosome 2, 232535132: 232535133

Expression for Multiple Pterygium Syndrome, Lethal Type

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

Pathways for Multiple Pterygium Syndrome, Lethal Type

GO Terms for Multiple Pterygium Syndrome, Lethal Type

Cellular components related to Multiple Pterygium Syndrome, Lethal Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.77 CHRNA1 CHRND CHRNG RAPSN RYR1
2 cell junction GO:0030054 9.56 CHRNA1 CHRND CHRNG RAPSN
3 synapse GO:0045202 9.46 CHRNA1 CHRND CHRNG RAPSN
4 neuromuscular junction GO:0031594 9.32 CHRNA1 RAPSN
5 postsynaptic membrane GO:0045211 9.26 CHRNA1 CHRND CHRNG RAPSN
6 acetylcholine-gated channel complex GO:0005892 8.8 CHRNA1 CHRND CHRNG

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.86 CHRNA1 CHRND CHRNG RYR1
2 ion transport GO:0006811 9.78 CHRNA1 CHRND CHRNG RYR1
3 ion transmembrane transport GO:0034220 9.7 CHRNA1 CHRND RYR1
4 muscle contraction GO:0006936 9.63 CHRND CHRNG RYR1
5 cation transmembrane transport GO:0098655 9.58 CHRNA1 CHRND CHRNG
6 regulation of membrane potential GO:0042391 9.55 CHRNA1 CHRND
7 cation transport GO:0006812 9.54 CHRNA1 CHRND
8 excitatory postsynaptic potential GO:0060079 9.54 CHRNA1 CHRND CHRNG
9 neuromuscular process GO:0050905 9.51 CHRNA1 CHRND
10 skeletal muscle contraction GO:0003009 9.49 CHRNA1 CHRND
11 musculoskeletal movement GO:0050881 9.43 CHRNA1 CHRND
12 regulation of postsynaptic membrane potential GO:0060078 9.43 CHRNA1 CHRND CHRNG
13 response to nicotine GO:0035094 9.33 CHRNA1 CHRND CHRNG
14 skeletal muscle tissue growth GO:0048630 9.32 CHRNA1 CHRND
15 neuromuscular synaptic transmission GO:0007274 9.13 CHRNA1 CHRND CHRNG
16 synaptic transmission, cholinergic GO:0007271 8.92 CHRNA1 CHRND CHRNG RAPSN

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 CHRNA1 CHRND RYR1
2 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNA1 CHRND CHRNG
3 acetylcholine receptor activity GO:0015464 9.37 CHRNA1 CHRNG
4 ligand-gated ion channel activity GO:0015276 9.33 CHRNA1 CHRND CHRNG
5 acetylcholine binding GO:0042166 9.13 CHRNA1 CHRND CHRNG
6 acetylcholine-gated cation-selective channel activity GO:0022848 8.8 CHRNA1 CHRND CHRNG

Sources for Multiple Pterygium Syndrome, Lethal Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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