LCCS11
MCID: LTH039
MIFTS: 25

Lethal Congenital Contracture Syndrome 11 (LCCS11)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 11

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 11:

Name: Lethal Congenital Contracture Syndrome 11 57 19 73 28 5
Lccs11 57 19 73
Lethal Congenital Contracture Arthrogryposis-11 19

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

OMIM® 57 617194
OMIM Phenotypic Series 57 PS253310
MeSH 43 D001176
SNOMED-CT via HPO 69 276369006 80825009 86203003

Summaries for Lethal Congenital Contracture Syndrome 11

GARD: 19 Lethal congenital contracture syndrome 11 (LCCS11) is a severe disorder characterized by congenital (present at birth) contractures. A contracture is a condition in which a joint becomes permanently fixed in a bent or straightened position, partially or completely restricting the movement of the affected joint. The condition has only being described in few people. Symptoms include flexion and extension contractures of the upper and lower limbs, very small lungs (pulmonary hypoplasia), a small and recessed lower jaw (retrognathia), bent toes and fingers (camptodactyly), and bilateral clubfoot. The disease is very severe and most affected infants die soon after birth due to respiratory complications. Ultrasound examination done during the prenatal period may show a fetus that does not move. Lethal congenital contracture arthrogryposis 11 is caused by genetic changes in the GLDN gene. Inheritance is autosomal recessive. Lethal congenital contracture syndrome 11 is a subtype of the lethal congenital contracture syndromes, which are classified under the arthrogryposis syndromes. The term arthrogryposis is used to describe multiple congenital contractures that affect two or more different areas of the body.

MalaCards based summary: Lethal Congenital Contracture Syndrome 11, also known as lccs11, is related to lethal congenital contracture syndrome and polyhydramnios. An important gene associated with Lethal Congenital Contracture Syndrome 11 is GLDN (Gliomedin). Affiliated tissues include skeletal muscle, and related phenotypes are retrognathia and polyhydramnios

UniProtKB/Swiss-Prot: 73 A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.

More information from OMIM: 617194 PS253310

Related Diseases for Lethal Congenital Contracture Syndrome 11

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 11

Human phenotypes related to Lethal Congenital Contracture Syndrome 11:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retrognathia 30 Occasional (7.5%) HP:0000278
2 polyhydramnios 30 HP:0001561
3 decreased fetal movement 30 HP:0001558
4 pulmonary hypoplasia 30 HP:0002089

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory Lung:
pulmonary hypoplasia

Head And Neck Face:
retrognathia (in some patients)

Skeletal Limbs:
flexion contractures of upper limbs
extension contractures of lower limbs

Prenatal Manifestations Amniotic Fluid:
marked polyhydramnios

Skeletal Hands:
flexion contractures of fingers

Prenatal Manifestations Movement:
decreased fetal movements

Neurologic Peripheral Nervous System:
reduced number of myelinated fibers (seen on transmission electron microscopy)
increased nodal length (seen on transmission electron microscopy)

Clinical features from OMIM®:

617194 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 11

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 11

Genetic Tests for Lethal Congenital Contracture Syndrome 11

Genetic tests related to Lethal Congenital Contracture Syndrome 11:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 11 28 GLDN

Anatomical Context for Lethal Congenital Contracture Syndrome 11

Organs/tissues related to Lethal Congenital Contracture Syndrome 11:

MalaCards : Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 11

Articles related to Lethal Congenital Contracture Syndrome 11:

# Title Authors PMID Year
1
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. 57 5
27616481 2016
2
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). 62 5
28726266 2017
3
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review. 62
35806855 2022
4
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. 62
35740734 2022

Variations for Lethal Congenital Contracture Syndrome 11

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 11:

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLDN NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter) SNV Pathogenic
268109 rs368085516 GRCh37: 15:51696730-51696730
GRCh38: 15:51404533-51404533
2 GLDN NM_181789.4(GLDN):c.758del (p.Pro253fs) DEL Pathogenic
268104 rs886041056 GRCh37: 15:51689732-51689732
GRCh38: 15:51397535-51397535
3 GLDN NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter) SNV Pathogenic
268107 rs539703340 GRCh37: 15:51696535-51696535
GRCh38: 15:51404338-51404338
4 GLDN NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) SNV Pathogenic
488521 rs775011495 GRCh37: 15:51696600-51696600
GRCh38: 15:51404403-51404403
5 GLDN NM_181789.4(GLDN):c.541+1G>A SNV Pathogenic
268108 rs886041057 GRCh37: 15:51676090-51676090
GRCh38: 15:51383893-51383893
6 GLDN NM_181789.4(GLDN):c.980_981del (p.Ser327fs) DEL Pathogenic
870381 rs755420151 GRCh37: 15:51692647-51692648
GRCh38: 15:51400450-51400451
7 GLDN NM_181789.4(GLDN):c.82G>C (p.Ala28Pro) SNV Likely Pathogenic
1175345 GRCh37: 15:51633963-51633963
GRCh38: 15:51341766-51341766
8 GLDN NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) SNV Likely Pathogenic
692276 rs147954907 GRCh37: 15:51693940-51693940
GRCh38: 15:51401743-51401743
9 GLDN NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) SNV Likely Pathogenic
268106 rs779432560 GRCh37: 15:51633976-51633976
GRCh38: 15:51341779-51341779
10 GLDN NM_181789.4(GLDN):c.689-2A>C SNV Likely Pathogenic
712166 rs149543159 GRCh37: 15:51689665-51689665
GRCh38: 15:51397468-51397468
11 GLDN NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) SNV Likely Pathogenic
268105 rs764239923 GRCh37: 15:51696718-51696718
GRCh38: 15:51404521-51404521
12 GLDN NM_181789.4(GLDN):c.86T>C (p.Leu29Pro) SNV Likely Pathogenic
807423 rs1595795343 GRCh37: 15:51633967-51633967
GRCh38: 15:51341770-51341770
13 GLDN NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) SNV Likely Pathogenic
813924 rs1595795307 GRCh37: 15:51633940-51633940
GRCh38: 15:51341743-51341743
14 GLDN NM_181789.4(GLDN):c.385_392del (p.Cys129fs) DEL Likely Pathogenic
916579 rs2037658180 GRCh37: 15:51669666-51669673
GRCh38: 15:51377469-51377476
15 GLDN NM_181789.4(GLDN):c.1028-2A>T SNV Likely Pathogenic
974889 rs2038250738 GRCh37: 15:51693788-51693788
GRCh38: 15:51401591-51401591
16 GLDN NM_181789.4(GLDN):c.314G>A (p.Arg105His) SNV Uncertain Significance
1027905 rs764097726 GRCh37: 15:51634195-51634195
GRCh38: 15:51341998-51341998
17 GLDN NM_181789.4(GLDN):c.363+1G>A SNV Uncertain Significance
813925 rs556661550 GRCh37: 15:51634245-51634245
GRCh38: 15:51342048-51342048
18 GLDN NM_181789.4(GLDN):c.794G>A (p.Ser265Asn) SNV Benign
1285294 GRCh37: 15:51689772-51689772
GRCh38: 15:51397575-51397575

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 11:

73
# Symbol AA change Variation ID SNP ID
1 GLDN p.Ala32Glu VAR_078545 rs779432560
2 GLDN p.Ala475Pro VAR_078546 rs764239923

Expression for Lethal Congenital Contracture Syndrome 11

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 11.

Pathways for Lethal Congenital Contracture Syndrome 11

GO Terms for Lethal Congenital Contracture Syndrome 11

Sources for Lethal Congenital Contracture Syndrome 11

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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