Lethal Congenital Contracture Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 6

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 6:

Name: Lethal Congenital Contracture Syndrome 6 ⁵⁷ ⁷² ²⁹ ⁶ ⁷⁰

Lccs6 ⁵⁷ ⁷²

Contracture Syndrome, Lethal, Congenital, Type 6 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 saudi arabian family (last curated february 2015)

HPO:

³¹

lethal congenital contracture syndrome 6:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616248

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴⁴ D001176

MedGen ⁴¹ C4015686 CN227921

SNOMED-CT via HPO ⁶⁸ 258211005 276369006 86203003

UMLS ⁷⁰ C4015686

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Summaries for Lethal Congenital Contracture Syndrome 6

UniProtKB/Swiss-Prot : ⁷² Lethal congenital contracture syndrome 6: 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. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities.

MalaCards based summary : Lethal Congenital Contracture Syndrome 6, also known as lccs6, is related to distal arthrogryposis and lethal congenital contracture syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 6 is ZBTB42 (Zinc Finger And BTB Domain Containing 42). Affiliated tissues include skeletal muscle, and related phenotypes are macrocephaly and polyhydramnios

More information from OMIM: 616248 PS253310

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Related Diseases for Lethal Congenital Contracture Syndrome 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	distal arthrogryposis	9.9
2	lethal congenital contracture syndrome	9.9
3	congenital contractures	9.9
4	congenital amyoplasia	9.9

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 6

Human phenotypes related to Lethal Congenital Contracture Syndrome 6:

³¹

#	Description	HPO Source Accession
1	macrocephaly ³¹	HP:0000256
2	polyhydramnios ³¹	HP:0001561
3	decreased fetal movement ³¹	HP:0001558
4	congenital contracture ³¹	HP:0002803

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Head:
macrocephaly

Prenatal Manifestations Movement:
reduced fetal movements

Abdomen Gastrointestinal:
absent stomach

Skeletal Hands:
fixed flexion of hands

Prenatal Manifestations Amniotic Fluid:
severe polyhydramnios

Skeletal Skull:
macrocephaly

Respiratory:
no respiratory effort at birth

Skeletal Limbs:
fixed-flexion deformity at hips
severely adducted lower limbs
fixed extension deformity of knees

Skeletal Feet:
dorsiflexion of feet

Clinical features from OMIM®:

616248 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 6

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 6

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Genetic Tests for Lethal Congenital Contracture Syndrome 6

Genetic tests related to Lethal Congenital Contracture Syndrome 6:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 6 ²⁹	ZBTB42

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Anatomical Context for Lethal Congenital Contracture Syndrome 6

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 6:

⁴⁰

Skeletal Muscle

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Publications for Lethal Congenital Contracture Syndrome 6

Articles related to Lethal Congenital Contracture Syndrome 6:

#	Title	Authors	PMID	Year
1	ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ⁶¹ ⁵⁷ ⁶	Patel N...Alkuraya FS	25055871	2014

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Genes for Lethal Congenital Contracture Syndrome 6

Genes related to Lethal Congenital Contracture Syndrome 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ZBTB42	Zinc Finger And BTB Domain Containing 42	Protein Coding	1367.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	25055871

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Variations for Lethal Congenital Contracture Syndrome 6

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 6:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ZBTB42	NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His)	SNV	Pathogenic	183176	rs730882163	GRCh37: 14:105268724-105268724 GRCh38: 14:104802387-104802387
2	ZBTB42	NM_001137601.3(ZBTB42):c.1088C>G (p.Thr363Arg)	SNV	Uncertain significance	1031875		GRCh37: 14:105268622-105268622 GRCh38: 14:104802285-104802285
3	ZBTB42	NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys)	SNV	Benign	803053	rs4983387	GRCh37: 14:105268228-105268228 GRCh38: 14:104801891-104801891

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 6:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	ZBTB42	p.Arg397His	VAR_073265	rs730882163

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Expression for Lethal Congenital Contracture Syndrome 6

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 6.

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Pathways for Lethal Congenital Contracture Syndrome 6

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GO Terms for Lethal Congenital Contracture Syndrome 6

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Sources for Lethal Congenital Contracture Syndrome 6

¹ BioSystems

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Lethal Congenital Contracture Syndrome 6 (LCCS6)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 6

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 6:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 6

Related Diseases for Lethal Congenital Contracture Syndrome 6

Diseases in the Lethal Congenital Contracture Syndrome family:

Diseases related to Lethal Congenital Contracture Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 6

Human phenotypes related to Lethal Congenital Contracture Syndrome 6:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 6

Genetic Tests for Lethal Congenital Contracture Syndrome 6

Genetic tests related to Lethal Congenital Contracture Syndrome 6:

Anatomical Context for Lethal Congenital Contracture Syndrome 6

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 6:

Publications for Lethal Congenital Contracture Syndrome 6

Articles related to Lethal Congenital Contracture Syndrome 6:

Genes for Lethal Congenital Contracture Syndrome 6

Genes related to Lethal Congenital Contracture Syndrome 6 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 6

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 6:

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 6:

Expression for Lethal Congenital Contracture Syndrome 6

Pathways for Lethal Congenital Contracture Syndrome 6

GO Terms for Lethal Congenital Contracture Syndrome 6

Sources for Lethal Congenital Contracture Syndrome 6