LCCS11
MCID: LTH039
MIFTS: 24

Lethal Congenital Contracture Syndrome 11 (LCCS11)

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 11

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 11:

Name: Lethal Congenital Contracture Syndrome 11 56 52 73 29 6
Lccs11 56 52 73
Lethal Congenital Contracture Arthrogryposis-11 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
lethal congenital contracture syndrome 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617194
OMIM Phenotypic Series 56 PS253310
MeSH 43 D001176

Summaries for Lethal Congenital Contracture Syndrome 11

NIH Rare Diseases : 52 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 mutations in the GLDN gene . Inheritance is autosomal recessive . Treatment is supportive and may include tracheostomy due to the respiratory problems and a feeding tube for nutrition. 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 congenital contractures. An important gene associated with Lethal Congenital Contracture Syndrome 11 is GLDN (Gliomedin). Affiliated tissues include skeletal muscle and lung, and related phenotypes are retrognathia and polyhydramnios

UniProtKB/Swiss-Prot : 73 Lethal congenital contracture syndrome 11: 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:

31
# Description HPO Frequency HPO Source Accession
1 retrognathia 31 occasional (7.5%) HP:0000278
2 polyhydramnios 31 HP:0001561
3 decreased fetal movement 31 HP:0001558
4 pulmonary hypoplasia 31 HP:0002089

Symptoms via clinical synopsis from OMIM:

56
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

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 29 GLDN

Anatomical Context for Lethal Congenital Contracture Syndrome 11

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 11:

40
Skeletal Muscle, Lung

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. 52 6 56
27616481 2016
2
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). 61
28726266 2017

Variations for Lethal Congenital Contracture Syndrome 11

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 11:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLDN NM_181789.4(GLDN):c.758del (p.Pro253fs)deletion Pathogenic 268104 rs886041056 15:51689732-51689732 15:51397535-51397535
2 GLDN NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro)SNV Pathogenic 268105 rs764239923 15:51696718-51696718 15:51404521-51404521
3 GLDN NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)SNV Pathogenic 268106 rs779432560 15:51633976-51633976 15:51341779-51341779
4 GLDN NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter)SNV Pathogenic 268107 rs539703340 15:51696535-51696535 15:51404338-51404338
5 GLDN NM_181789.4(GLDN):c.541+1G>ASNV Pathogenic 268108 rs886041057 15:51676090-51676090 15:51383893-51383893
6 GLDN NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter)SNV Pathogenic 268109 rs368085516 15:51696730-51696730 15:51404533-51404533
7 GLDN NM_181789.4(GLDN):c.980_981del (p.Ser327fs)deletion Pathogenic 870381 15:51692647-51692648 15:51400450-51400451
8 GLDN NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)SNV Pathogenic/Likely pathogenic 488521 rs775011495 15:51696600-51696600 15:51404403-51404403
9 GLDN NM_181789.4(GLDN):c.86T>C (p.Leu29Pro)SNV Likely pathogenic 807423 15:51633967-51633967 15:51341770-51341770
10 GLDN NM_181789.4(GLDN):c.59T>C (p.Leu20Pro)SNV Likely pathogenic 813924 15:51633940-51633940 15:51341743-51341743
11 GLDN NM_181789.4(GLDN):c.385_392del (p.Cys129fs)deletion Likely pathogenic 916579 15:51669666-51669673 15:51377469-51377476
12 GLDN NM_181789.4(GLDN):c.363+1G>ASNV Uncertain significance 813925 15:51634245-51634245 15:51342048-51342048

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

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72 UMLS via Orphanet
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