MCID: LTH039
MIFTS: 22

Lethal Congenital Contracture Syndrome 11

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome 11

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 11:

Name: Lethal Congenital Contracture Syndrome 11 57 53 75 29 6
Lccs11 57 53 75
Lethal Congenital Contracture Arthrogryposis-11 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lethal congenital contracture syndrome 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617194
MeSH 44 D001176
SNOMED-CT via HPO 69 258211005 276369006 80825009

Summaries for Lethal Congenital Contracture Syndrome 11

NIH Rare Diseases : 53 Lethal congenitalcontracturesyndrome 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, is also known as lccs11. An important gene associated with Lethal Congenital Contracture Syndrome 11 is GLDN (Gliomedin). The drugs Gliclazide and Indapamide have been mentioned in the context of this disorder. Affiliated tissues include lung and skeletal muscle, and related phenotypes are retrognathia and decreased fetal movement

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617194

Related Diseases for Lethal Congenital Contracture Syndrome 11

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 11

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
retrognathia (in some patients)

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

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

Prenatal Manifestations Amniotic Fluid:
marked polyhydramnios

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
flexion contractures of fingers

Prenatal Manifestations Movement:
decreased fetal movements


Clinical features from OMIM:

617194

Human phenotypes related to Lethal Congenital Contracture Syndrome 11:

32
# Description HPO Frequency HPO Source Accession
1 retrognathia 32 occasional (7.5%) HP:0000278
2 decreased fetal movement 32 HP:0001558
3 pulmonary hypoplasia 32 HP:0002089

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 11

Drugs for Lethal Congenital Contracture Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gliclazide Approved 21187-98-4 3475
2
Indapamide Approved 26807-65-8 3702
3
Perindopril Approved 107133-36-8, 82834-16-0 107807
4 Antihypertensive Agents
5 Hypoglycemic Agents
6 Indapamide, perindopril drug combination

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Action in Diabetes and Vascular Disease Preterax and Diamicron MR Controlled Evaluation Post Trial Observational Study Completed NCT00949286

Search 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:

41
Lung, Skeletal Muscle

Publications for Lethal Congenital Contracture Syndrome 11

Variations for Lethal Congenital Contracture Syndrome 11

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

75
# Symbol AA change Variation ID SNP ID
1 GLDN p.Ala32Glu VAR_078545 rs779432560
2 GLDN p.Ala475Pro VAR_078546 rs764239923

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 11:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLDN NM_181789.2(GLDN): c.758delC (p.Pro253Leufs) deletion Pathogenic rs886041056 GRCh37 Chromosome 15, 51689736: 51689736
2 GLDN NM_181789.2(GLDN): c.758delC (p.Pro253Leufs) deletion Pathogenic rs886041056 GRCh38 Chromosome 15, 51397539: 51397539
3 GLDN NM_181789.3(GLDN): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs764239923 GRCh38 Chromosome 15, 51404521: 51404521
4 GLDN NM_181789.3(GLDN): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs764239923 GRCh37 Chromosome 15, 51696718: 51696718
5 GLDN NM_181789.2(GLDN): c.95C> A (p.Ala32Glu) single nucleotide variant Pathogenic rs779432560 GRCh37 Chromosome 15, 51633976: 51633976
6 GLDN NM_181789.2(GLDN): c.95C> A (p.Ala32Glu) single nucleotide variant Pathogenic rs779432560 GRCh38 Chromosome 15, 51341779: 51341779
7 GLDN NM_181789.3(GLDN): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs539703340 GRCh38 Chromosome 15, 51404338: 51404338
8 GLDN NM_181789.3(GLDN): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic rs539703340 GRCh37 Chromosome 15, 51696535: 51696535
9 GLDN NM_181789.2(GLDN): c.541+1G> A single nucleotide variant Pathogenic rs886041057 GRCh38 Chromosome 15, 51383893: 51383893
10 GLDN NM_181789.2(GLDN): c.541+1G> A single nucleotide variant Pathogenic rs886041057 GRCh37 Chromosome 15, 51676090: 51676090
11 GLDN NM_181789.2(GLDN): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic rs368085516 GRCh37 Chromosome 15, 51696730: 51696730
12 GLDN NM_181789.2(GLDN): c.1435C> T (p.Arg479Ter) single nucleotide variant Pathogenic rs368085516 GRCh38 Chromosome 15, 51404533: 51404533
13 GLDN NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 GRCh37 Chromosome 15, 51696600: 51696600
14 GLDN NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter) single nucleotide variant Pathogenic/Likely pathogenic rs775011495 GRCh38 Chromosome 15, 51404403: 51404403

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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