Lethal Congenital Contracture Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 3

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 3:

Name: Lethal Congenital Contracture Syndrome 3 ⁵⁷ ¹² ²⁰ ⁷²

Lethal Congenital Contractural Syndrome 3 ⁵⁷ ²⁹ ¹³ ⁶ ⁷⁰

Lccs3 ⁵⁷ ²⁰ ⁵⁸ ⁷²

Lethal Congenital Contracture Syndrome Type 3 ²⁰ ⁵⁸

Multiple Contracture Syndrome, Israeli Bedouin Type B ⁵⁷

Multiple Contractural Syndrome Israeli Bedouin Type B ⁷²

Israeli Bedouin Type B Multiple Contracture Syndrome ¹²

Contracture Syndrome, Lethal, Congenital, Type 3 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

lethal congenital contracture syndrome type 3
Inheritance: Autosomal recessive;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth

HPO:

³¹

lethal congenital contracture syndrome 3:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital musculoskeletal deformities

Other specified congenital musculoskeletal deformities

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060653

OMIM® ⁵⁷ 611369

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴⁴ D001176

ICD10 via Orphanet ³³ Q68.8

UMLS via Orphanet ⁷¹ C1969655

Orphanet ⁵⁸ ORPHA137783

MedGen ⁴¹ C1969655

SNOMED-CT via HPO ⁶⁸ 111246005 19393004 202264009 more

UMLS ⁷⁰ C1969655

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Summaries for Lethal Congenital Contracture Syndrome 3

UniProtKB/Swiss-Prot : ⁷² Lethal congenital contracture syndrome 3: 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 (arthrogryposis). 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. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect.

MalaCards based summary : Lethal Congenital Contracture Syndrome 3, also known as lethal congenital contractural syndrome 3, is related to lethal congenital contracture syndrome and lethal congenital contracture syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome 3 is PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma). Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Disease Ontology : ¹² A lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13.

More information from OMIM: 611369 PS253310

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Related Diseases for Lethal Congenital Contracture Syndrome 3

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

#	Related Disease	Score	Top Affiliating Genes
1	lethal congenital contracture syndrome	29.1	PIP5K1C MYBPC1
2	lethal congenital contracture syndrome 2	9.9
3	neurogenic bladder	9.9
4	congenital amyoplasia	9.9

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 3

Human phenotypes related to Lethal Congenital Contracture Syndrome 3:

³¹

#	Description	HPO Source Accession
1	respiratory insufficiency ³¹	HP:0002093
2	skeletal muscle atrophy ³¹	HP:0003202
3	multiple joint contractures ³¹	HP:0002828
4	arthrogryposis multiplex congenita ³¹	HP:0002804

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Growth Other:
small or borderline to adequate size for gestational age

Skeletal Limbs:
severe multiple joint contractures

Respiratory:
respiratory insufficiency at birth, lethal

Muscle Soft Tissue:
severe muscle wasting and atrophy, primarily in the legs

Clinical features from OMIM®:

611369 (Updated 20-May-2021)

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 3

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 3

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Genetic Tests for Lethal Congenital Contracture Syndrome 3

Genetic tests related to Lethal Congenital Contracture Syndrome 3:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contractural Syndrome 3 ²⁹	PIP5K1C

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Anatomical Context for Lethal Congenital Contracture Syndrome 3

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 3:

⁴⁰

Skeletal Muscle

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Publications for Lethal Congenital Contracture Syndrome 3

Articles related to Lethal Congenital Contracture Syndrome 3:

#	Title	Authors	PMID	Year
1	Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. ⁶¹ ⁵⁷ ⁶	Narkis G...Birk OS	17701898	2007
2	Structural insights into lethal contractural syndrome type 3 (LCCS3) caused by a missense mutation of PIP5Kγ. ⁶¹	Zeng X...Hu J	29959184	2018
3	Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. ⁶¹	Nousiainen HO...Peltonen L	18204449	2008

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Genes for Lethal Congenital Contracture Syndrome 3

Genes related to Lethal Congenital Contracture Syndrome 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	1666.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17701898
2	MYBPC1	Myosin Binding Protein C1	Protein Coding	350	Causative germline mutation ⁵⁸	22610851

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Variations for Lethal Congenital Contracture Syndrome 3

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PIP5K1C	NM_012398.3(PIP5K1C):c.757G>A (p.Asp253Asn)	SNV	Pathogenic	4615	rs121908315	GRCh37: 19:3653452-3653452 GRCh38: 19:3653454-3653454
2	PIP5K1C	NM_012398.3(PIP5K1C):c.1979dup (p.Ala661fs)	Duplication	Pathogenic	1033229		GRCh37: 19:3633459-3633460 GRCh38: 19:3633461-3633462
3	PIP5K1C	NM_012398.3(PIP5K1C):c.1148T>C (p.Val383Ala)	SNV	Likely benign	694416	rs1489575349	GRCh37: 19:3648686-3648686 GRCh38: 19:3648688-3648688

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 3:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	PIP5K1C	p.Asp253Asn	VAR_036996	rs121908315

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Expression for Lethal Congenital Contracture Syndrome 3

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 3.

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Pathways for Lethal Congenital Contracture Syndrome 3

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GO Terms for Lethal Congenital Contracture Syndrome 3

Biological processes related to Lethal Congenital Contracture Syndrome 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	8.62	PIP5K1C MYBPC1

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Sources for Lethal Congenital Contracture Syndrome 3

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Lethal Congenital Contracture Syndrome 3 (LCCS3)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 3

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 3:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 3

Related Diseases for Lethal Congenital Contracture Syndrome 3

Diseases in the Lethal Congenital Contracture Syndrome family:

Diseases related to Lethal Congenital Contracture Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 3

Human phenotypes related to Lethal Congenital Contracture Syndrome 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 3

Genetic Tests for Lethal Congenital Contracture Syndrome 3

Genetic tests related to Lethal Congenital Contracture Syndrome 3:

Anatomical Context for Lethal Congenital Contracture Syndrome 3

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 3:

Publications for Lethal Congenital Contracture Syndrome 3

Articles related to Lethal Congenital Contracture Syndrome 3:

Genes for Lethal Congenital Contracture Syndrome 3

Genes related to Lethal Congenital Contracture Syndrome 3 (2 elite genes):

Variations for Lethal Congenital Contracture Syndrome 3

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 3:

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 3:

Expression for Lethal Congenital Contracture Syndrome 3

Pathways for Lethal Congenital Contracture Syndrome 3

GO Terms for Lethal Congenital Contracture Syndrome 3

Biological processes related to Lethal Congenital Contracture Syndrome 3 according to GeneCards Suite gene sharing:

Sources for Lethal Congenital Contracture Syndrome 3