LMPS
MCID: MLT134
MIFTS: 47

Multiple Pterygium Syndrome, Lethal Type (LMPS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Multiple Pterygium Syndrome, Lethal Type

MalaCards integrated aliases for Multiple Pterygium Syndrome, Lethal Type:

Name: Multiple Pterygium Syndrome, Lethal Type 57 75 13 40 73
Lethal Multiple Pterygium Syndrome 53 59 29 6
Lmps 57 53 59 75
Autosomal Recessive Lethal Multiple Pterygium Syndrome 59
Pterygium Syndrome, Multiple, Lethal Type 57
Multiple Pterygium Syndrome Lethal Type 53
Pterygium Syndrome Multiple Lethal Type 53

Characteristics:

Orphanet epidemiological data:

59
lethal multiple pterygium syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal


HPO:

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


Classifications:



Summaries for Multiple Pterygium Syndrome, Lethal Type

NIH Rare Diseases : 53 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.

MalaCards based summary : Multiple Pterygium Syndrome, Lethal Type, also known as lethal multiple pterygium syndrome, is related to multiple pterygium syndrome, escobar variant and multiple pterygium syndrome, x-linked, and has symptoms including edema 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 bone, lung and heart, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 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 related to Multiple Pterygium Syndrome, Lethal Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, escobar variant 32.6 CHRNA1 CHRND CHRNG
2 multiple pterygium syndrome, x-linked 12.0
3 hepatitis 10.1
4 hepatitis b 10.1
5 viral infectious disease 10.1
6 cystic lymphangioma 10.0 CHRND CHRNG
7 slow-channel congenital myasthenic syndrome 10.0 CHRNA1 CHRND
8 bartsocas-papas syndrome 10.0
9 omphalocele 10.0
10 hydranencephaly 10.0
11 uniparental disomy of chromosome 2 10.0
12 microphthalmia, isolated 1 10.0 CHRND CHRNG
13 autoimmune disease 9.9
14 hepatocellular carcinoma 9.9
15 lymphoma, mucosa-associated lymphoid type 9.9
16 celiac disease 1 9.9
17 diabetes mellitus 9.9
18 lymphoma 9.9
19 brucellosis 9.9
20 melanoma 9.9
21 adenocarcinoma 9.9
22 lymphoepithelioma-like carcinoma 9.9
23 psoriasis 9.9
24 arthrogryposis, distal, type 1a 9.9 RAPSN RYR1
25 congenital contractures 9.9 CHRNG RYR1
26 oligohydramnios 9.9 CHRNA1 CHRND CHRNG
27 postsynaptic congenital myasthenic syndromes 9.9 CHRNA1 CHRND RAPSN
28 neuromuscular junction disease 9.8 CHRNA1 CHRND RAPSN
29 congenital structural myopathy 9.8 NEB RYR1
30 central core disease of muscle 9.8 NEB RYR1
31 muscle tissue disease 9.7 NEB RYR1
32 fetal akinesia deformation sequence 9.7 CHRNA1 CHRND CHRNG RAPSN
33 myopathy, congenital 9.6 NEB RYR1
34 ptosis 9.6 CHRNA1 CHRND RAPSN RYR1
35 myasthenia gravis 9.6 CHRNA1 CHRNG RAPSN RYR1
36 congenital myasthenic syndrome 9.5 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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Mouth:
cleft palate
cleft lip/palate

Growth Other:
intrauterine growth retardation

Metabolic Features:
malignant hyperthermia

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Nose:
flat nose

Skeletal:
fractures
congenital bone fusions

Respiratory Lung:
hypoplastic lungs

Cardiovascular Heart:
hypoplastic heart

Muscle Soft Tissue:
generalized amyoplasia

Head And Neck Ears:
low-set ears

Head And Neck Face:
micrognathia
dysmorphic facies

Head And Neck Neck:
cystic hygroma
jugular lymphatic obstruction sequence

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skin Nails Hair Skin:
multiple pterygia

Skeletal Limbs:
flexion contractures
joint dislocations

Prenatal Manifestations:
hydrops

Skeletal Spine:
spinal fusion
abnormal cervical curvature

Skeletal Hands:
microbrachydactyly

Neurologic Central Nervous System:
early severe fetal akinesia sequence


Clinical features from OMIM:

253290

Human phenotypes related to Multiple Pterygium Syndrome, Lethal Type:

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CHRNG NEB RAPSN RYR1

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:

# Genetic test Affiliating Genes
1 Lethal Multiple Pterygium Syndrome 29 CHRNA1 CHRND CHRNG

Anatomical Context for Multiple Pterygium Syndrome, Lethal Type

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

41
Bone, Lung, Heart, Skin

Publications for Multiple Pterygium Syndrome, Lethal Type

Articles related to Multiple Pterygium Syndrome, Lethal Type:

(show all 35)
# Title Authors Year
1
Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome. ( 29399782 )
2018
2
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. ( 28336317 )
2017
3
Continuous fetal head flexion as a marker for prenatal diagnosis of lethal multiple pterygium syndrome: a case report. ( 27987045 )
2017
4
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. ( 26932181 )
2016
5
Lethal multiple pterygium syndrome. ( 27843868 )
2016
6
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. ( 25476234 )
2014
7
Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography. ( 23230547 )
2012
8
Lethal multiple pterygium syndrome associated with omphalocele. ( 18286827 )
2007
9
First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. ( 16912497 )
2006
10
Sonographic features of lethal multiple pterygium syndrome at 14 weeks. ( 15966038 )
2005
11
Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. ( 12417929 )
2003
12
Case report: lethal multiple pterygium syndrome. ( 14578039 )
2003
13
Lethal multiple pterygium syndrome: antenatal ultrasonographic diagnosis. ( 10972565 )
2000
14
Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype? ( 9916854 )
1999
15
Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. ( 9605614 )
1998
16
Prenatal diagnosis of lethal multiple pterygium syndrome in mid-pregnancy. ( 9793197 )
1998
17
Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. ( 8986282 )
1997
18
Lethal multiple pterygium syndrome: importance of fetal physical examination. ( 7645590 )
1995
19
Lethal multiple pterygium syndrome: report of a case with neurological anomalies. ( 8368251 )
1993
20
Prenatal ultrasound diagnosis of a rare occurrence of lethal multiple pterygium syndrome in two siblings. ( 12797247 )
1993
21
Lethal multiple pterygium syndrome. The importance of fetal posture in mid-trimester diagnosis by ultrasound: discussion and case report. ( 12797292 )
1993
22
Lethal multiple pterygium syndrome. ( 1286892 )
1992
23
Fragile collagen and the lethal multiple pterygium syndrome: does heat stress play a role? ( 2063909 )
1991
24
The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report. ( 2185959 )
1990
25
The lethal multiple pterygium syndrome: a nosological approach. ( 2222917 )
1990
26
Pathogenesis of the lethal multiple pterygium syndrome. ( 2309791 )
1990
27
Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia. ( 2531978 )
1989
28
Nosological difference between the Bartsocas-Papas syndrome and lethal multiple pterygium syndrome. ( 3377016 )
1988
29
The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. ( 3044117 )
1988
30
Brief clinical report: an unusual bandlike web in an infant with lethal multiple pterygium syndrome. ( 3189397 )
1988
31
A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance. ( 3425601 )
1987
32
Lethal multiple pterygium syndrome: report of a new case with hydranencephaly. ( 3789017 )
1986
33
Lethal multiple pterygium syndrome: three consecutive cases in one family. ( 3717212 )
1986
34
Lethal multiple pterygium syndrome. ( 6720747 )
1984
35
Brief clinical report: lethal multiple pterygium syndrome in an 18-week fetus with hydrops. ( 6720748 )
1984

Variations for Multiple Pterygium Syndrome, Lethal Type

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

75
# 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 (show top 50) (show all 207)
# 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.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs121912670 GRCh38 Chromosome 2, 232542992: 232542992
3 CHRNG NM_005199.4(CHRNG): c.320T> G (p.Val107Gly) single nucleotide variant Pathogenic rs267606726 GRCh37 Chromosome 2, 233405391: 233405391
4 CHRNG NM_005199.4(CHRNG): c.320T> G (p.Val107Gly) single nucleotide variant Pathogenic rs267606726 GRCh38 Chromosome 2, 232540681: 232540681
5 CHRNG NM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs) deletion Pathogenic rs767503038 GRCh37 Chromosome 2, 233407740: 233407741
6 CHRNG NM_005199.4(CHRNG): c.753_754delCT (p.Val253Alafs) deletion Pathogenic rs767503038 GRCh38 Chromosome 2, 232543030: 232543031
7 CHRND NM_000751.2(CHRND): c.234G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs121909505 GRCh37 Chromosome 2, 233392146: 233392146
8 CHRND NM_000751.2(CHRND): c.234G> A (p.Trp78Ter) single nucleotide variant Pathogenic rs121909505 GRCh38 Chromosome 2, 232527436: 232527436
9 CHRND NM_000751.2(CHRND): c.283T> C (p.Phe95Leu) single nucleotide variant Pathogenic rs121909506 GRCh37 Chromosome 2, 233393011: 233393011
10 CHRND NM_000751.2(CHRND): c.283T> C (p.Phe95Leu) single nucleotide variant Pathogenic rs121909506 GRCh38 Chromosome 2, 232528301: 232528301
11 CHRND NM_000751.2(CHRND): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs121909507 GRCh37 Chromosome 2, 233399858: 233399858
12 CHRND NM_000751.2(CHRND): c.1390C> T (p.Arg464Ter) single nucleotide variant Pathogenic rs121909507 GRCh38 Chromosome 2, 232535148: 232535148
13 CHRNA1 NM_000079.3(CHRNA1): c.517G> A (p.Gly173Ser) single nucleotide variant Pathogenic rs137852801 GRCh37 Chromosome 2, 175618970: 175618970
14 CHRNA1 NM_000079.3(CHRNA1): c.517G> A (p.Gly173Ser) single nucleotide variant Pathogenic rs137852801 GRCh38 Chromosome 2, 174754242: 174754242
15 CHRNA1 NM_001039523.2(CHRNA1): c.761G> T (p.Arg254Leu) single nucleotide variant Pathogenic rs137852809 GRCh37 Chromosome 2, 175618323: 175618323
16 CHRNA1 NM_001039523.2(CHRNA1): c.761G> T (p.Arg254Leu) single nucleotide variant Pathogenic rs137852809 GRCh38 Chromosome 2, 174753595: 174753595
17 CHRNA1 CHRNA1, 17-BP DUP, NT117 duplication Pathogenic
18 CHRNG CHRNG, 1-BP DUP, 459A duplication Pathogenic
19 CHRNA1 NM_000079.3(CHRNA1): c.1073A> T (p.Asp358Val) single nucleotide variant Benign/Likely benign rs6739001 GRCh37 Chromosome 2, 175613477: 175613477
20 CHRNA1 NM_000079.3(CHRNA1): c.1073A> T (p.Asp358Val) single nucleotide variant Benign/Likely benign rs6739001 GRCh38 Chromosome 2, 174748749: 174748749
21 CHRNA1 NM_000079.3(CHRNA1): c.540+4G> C single nucleotide variant Benign/Likely benign rs112674580 GRCh37 Chromosome 2, 175618943: 175618943
22 CHRNA1 NM_000079.3(CHRNA1): c.540+4G> C single nucleotide variant Benign/Likely benign rs112674580 GRCh38 Chromosome 2, 174754215: 174754215
23 CHRND NM_000751.2(CHRND): c.120G> A (p.Lys40=) single nucleotide variant Benign/Likely benign rs55921262 GRCh37 Chromosome 2, 233391306: 233391306
24 CHRND NM_000751.2(CHRND): c.120G> A (p.Lys40=) single nucleotide variant Benign/Likely benign rs55921262 GRCh38 Chromosome 2, 232526596: 232526596
25 CHRND NM_000751.2(CHRND): c.243C> T (p.His81=) single nucleotide variant Benign/Likely benign rs115841867 GRCh37 Chromosome 2, 233392155: 233392155
26 CHRND NM_000751.2(CHRND): c.243C> T (p.His81=) single nucleotide variant Benign/Likely benign rs115841867 GRCh38 Chromosome 2, 232527445: 232527445
27 CHRND NM_000751.2(CHRND): c.44C> T (p.Ala15Val) single nucleotide variant Uncertain significance rs142531974 GRCh37 Chromosome 2, 233390969: 233390969
28 CHRND NM_000751.2(CHRND): c.44C> T (p.Ala15Val) single nucleotide variant Uncertain significance rs142531974 GRCh38 Chromosome 2, 232526259: 232526259
29 CHRND NM_000751.2(CHRND): c.1105C> T (p.Pro369Ser) single nucleotide variant Benign rs2229194 GRCh37 Chromosome 2, 233398698: 233398698
30 CHRND NM_000751.2(CHRND): c.1105C> T (p.Pro369Ser) single nucleotide variant Benign rs2229194 GRCh38 Chromosome 2, 232533988: 232533988
31 CHRND NM_000751.2(CHRND): c.1400G> A (p.Arg467His) single nucleotide variant Conflicting interpretations of pathogenicity rs148939701 GRCh37 Chromosome 2, 233399868: 233399868
32 CHRND NM_000751.2(CHRND): c.1400G> A (p.Arg467His) single nucleotide variant Conflicting interpretations of pathogenicity rs148939701 GRCh38 Chromosome 2, 232535158: 232535158
33 CHRND NM_000751.2(CHRND): c.117C> G (p.Asn39Lys) single nucleotide variant Benign rs77084550 GRCh37 Chromosome 2, 233391303: 233391303
34 CHRND NM_000751.2(CHRND): c.117C> G (p.Asn39Lys) single nucleotide variant Benign rs77084550 GRCh38 Chromosome 2, 232526593: 232526593
35 CHRNA1 NM_001039523.2(CHRNA1): c.730C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs150638770 GRCh37 Chromosome 2, 175618354: 175618354
36 CHRNA1 NM_001039523.2(CHRNA1): c.730C> T (p.Leu244=) single nucleotide variant Conflicting interpretations of pathogenicity rs150638770 GRCh38 Chromosome 2, 174753626: 174753626
37 CHRNA1 NM_000079.3(CHRNA1): c.948C> A (p.Ile316=) single nucleotide variant Conflicting interpretations of pathogenicity rs141733086 GRCh37 Chromosome 2, 175614728: 175614728
38 CHRNA1 NM_000079.3(CHRNA1): c.948C> A (p.Ile316=) single nucleotide variant Conflicting interpretations of pathogenicity rs141733086 GRCh38 Chromosome 2, 174750000: 174750000
39 CHRND NM_000751.2(CHRND): c.862C> G (p.Gln288Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41265127 GRCh37 Chromosome 2, 233396103: 233396103
40 CHRND NM_000751.2(CHRND): c.862C> G (p.Gln288Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41265127 GRCh38 Chromosome 2, 232531393: 232531393
41 CHRND NM_000751.2(CHRND): c.1371+7G> T single nucleotide variant Benign rs188395796 GRCh38 Chromosome 2, 232534349: 232534349
42 CHRND NM_000751.2(CHRND): c.1371+7G> T single nucleotide variant Benign rs188395796 GRCh37 Chromosome 2, 233399059: 233399059
43 CHRNG NM_005199.4(CHRNG): c.1115C> T (p.Ser372Phe) single nucleotide variant Uncertain significance rs145433186 GRCh37 Chromosome 2, 233409156: 233409156
44 CHRNG NM_005199.4(CHRNG): c.1115C> T (p.Ser372Phe) single nucleotide variant Uncertain significance rs145433186 GRCh38 Chromosome 2, 232544446: 232544446
45 CHRND NM_000751.2(CHRND): c.817G> A (p.Asp273Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs202209156 GRCh38 Chromosome 2, 232530136: 232530136
46 CHRND NM_000751.2(CHRND): c.817G> A (p.Asp273Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs202209156 GRCh37 Chromosome 2, 233394846: 233394846
47 CHRND NM_000751.2(CHRND): c.919C> T (p.Pro307Ser) single nucleotide variant Uncertain significance rs142063328 GRCh37 Chromosome 2, 233396160: 233396160
48 CHRND NM_000751.2(CHRND): c.919C> T (p.Pro307Ser) single nucleotide variant Uncertain significance rs142063328 GRCh38 Chromosome 2, 232531450: 232531450
49 CHRND NM_000751.2(CHRND): c.727C> T (p.Arg243Cys) single nucleotide variant Uncertain significance rs201733876 GRCh37 Chromosome 2, 233394756: 233394756
50 CHRND NM_000751.2(CHRND): c.727C> T (p.Arg243Cys) single nucleotide variant Uncertain significance rs201733876 GRCh38 Chromosome 2, 232530046: 232530046

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:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.73 CHRNA1 CHRND CHRNG RYR1
2 cell junction GO:0030054 9.62 CHRNA1 CHRND CHRNG RAPSN
3 neuron projection GO:0043005 9.58 CHRNA1 CHRND CHRNG
4 synapse GO:0045202 9.56 CHRNA1 CHRND CHRNG RAPSN
5 Z disc GO:0030018 9.46 NEB RYR1
6 integral component of postsynaptic specialization membrane GO:0099060 9.37 CHRNA1 CHRND
7 neuromuscular junction GO:0031594 9.33 CHRNA1 CHRND RAPSN
8 postsynaptic membrane GO:0045211 9.26 CHRNA1 CHRND CHRNG RAPSN
9 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)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 CHRNA1 CHRND CHRNG RYR1
2 ion transmembrane transport GO:0034220 9.71 CHRNA1 CHRND CHRNG RYR1
3 regulation of membrane potential GO:0042391 9.69 CHRNA1 CHRND CHRNG
4 muscle contraction GO:0006936 9.67 CHRND CHRNG RYR1
5 excitatory postsynaptic potential GO:0060079 9.63 CHRNA1 CHRND CHRNG
6 chemical synaptic transmission GO:0007268 9.62 CHRNA1 CHRND CHRNG RAPSN
7 cation transport GO:0006812 9.56 CHRNA1 CHRND
8 neuromuscular process GO:0050905 9.55 CHRNA1 CHRND
9 skeletal muscle contraction GO:0003009 9.54 CHRNA1 CHRND
10 nervous system process GO:0050877 9.54 CHRNA1 CHRND CHRNG
11 musculoskeletal movement GO:0050881 9.48 CHRNA1 CHRND
12 skeletal muscle tissue growth GO:0048630 9.43 CHRNA1 CHRND
13 regulation of postsynaptic membrane potential GO:0060078 9.43 CHRNA1 CHRND CHRNG
14 response to nicotine GO:0035094 9.33 CHRNA1 CHRND CHRNG
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:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.56 CHRNA1 CHRND CHRNG RYR1
2 extracellular ligand-gated ion channel activity GO:0005230 9.54 CHRNA1 CHRND CHRNG
3 ligand-gated ion channel activity GO:0015276 9.5 CHRNA1 CHRND CHRNG
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.4 CHRNA1 CHRND
5 acetylcholine binding GO:0042166 9.33 CHRNA1 CHRND CHRNG
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.13 CHRNA1 CHRND CHRNG
7 acetylcholine receptor activity GO:0015464 8.8 CHRNA1 CHRND CHRNG

Sources for Multiple Pterygium Syndrome, Lethal Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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