Lethal Congenital Contracture Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Respiratory diseases Neuronal diseases Bone diseases Eye diseases Nephrological diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617194

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴³ D001176

MedGen ⁴⁰ C4310670 CN239054

SNOMED-CT via HPO ⁶⁹ 276369006 80825009 86203003

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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

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Related Diseases for Lethal Congenital Contracture Syndrome 11

Diseases in the Lethal Congenital Contracture Syndrome family:

Lethal Congenital Contracture Syndrome 1	Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 3	Lethal Congenital Contracture Syndrome 4
Lethal Congenital Contracture Syndrome 5	Lethal Congenital Contracture Syndrome 6
Lethal Congenital Contracture Syndrome 7	Lethal Congenital Contracture Syndrome 8
Lethal Congenital Contracture Syndrome 9	Lethal Congenital Contracture Syndrome 10
Lethal Congenital Contracture Syndrome 11

Diseases related to Lethal Congenital Contracture Syndrome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	lethal congenital contracture syndrome	10.3
2	polyhydramnios	10.3
3	congenital contractures	10.3
4	distal arthrogryposis	10.1

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 11

Human phenotypes related to Lethal Congenital Contracture Syndrome 11:

³⁰

#	Description	HPO 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)

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 11

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

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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

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Anatomical Context for Lethal Congenital Contracture Syndrome 11

Organs/tissues related to Lethal Congenital Contracture Syndrome 11:

MalaCards : Skeletal Muscle

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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	Maluenda J...Melki J	27616481	2016
2	Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). ⁶² ⁵	Wambach JA...Steinfeld R	28726266	2017
3	Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review. ⁶²	Potrony M...Rodriguez-Revenga L	35806855	2022
4	Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. ⁶²	Eurich B...Stichtenoth G	35740734	2022

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Genes for Lethal Congenital Contracture Syndrome 11

Genes related to Lethal Congenital Contracture Syndrome 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GLDN	Gliomedin	Protein Coding	1342.16	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	27616481 28726266

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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

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Expression for Lethal Congenital Contracture Syndrome 11

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

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Pathways for Lethal Congenital Contracture Syndrome 11

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GO Terms for Lethal Congenital Contracture Syndrome 11

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Sources for Lethal Congenital Contracture Syndrome 11

¹ BitterDB

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lethal Congenital Contracture Syndrome 11 (LCCS11)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 11

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 11:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 11

Related Diseases for Lethal Congenital Contracture Syndrome 11

Diseases in the Lethal Congenital Contracture Syndrome family:

Diseases related to Lethal Congenital Contracture Syndrome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 11

Human phenotypes related to Lethal Congenital Contracture Syndrome 11:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 11

Genetic Tests for Lethal Congenital Contracture Syndrome 11

Genetic tests related to Lethal Congenital Contracture Syndrome 11:

Anatomical Context for Lethal Congenital Contracture Syndrome 11

Organs/tissues related to Lethal Congenital Contracture Syndrome 11:

Publications for Lethal Congenital Contracture Syndrome 11

Articles related to Lethal Congenital Contracture Syndrome 11:

Genes for Lethal Congenital Contracture Syndrome 11

Genes related to Lethal Congenital Contracture Syndrome 11 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 11

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 11:

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

Expression 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