Lethal Congenital Contracture Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Name: Lethal Congenital Contracture Syndrome 4 ⁵⁷ ¹¹ ¹⁹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Lccs4 ⁵⁷ ⁷³

Contracture Syndrome, Lethal, Congenital, Type 4 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth
clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3'

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060654

OMIM® ⁵⁷ 614915

OMIM Phenotypic Series ⁵⁷ PS253310

MeSH ⁴³ D001176

MedGen ⁴⁰ C3554046 CN160485

SNOMED-CT via HPO ⁶⁹ 19393004 202264009 24269006 more

UMLS ⁷¹ C3554046

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Summaries for Lethal Congenital Contracture Syndrome 4

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.

MalaCards based summary: Lethal Congenital Contracture Syndrome 4, also known as lccs4, is related to distal arthrogryposis and cardiomyopathy, familial hypertrophic, 4. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C1), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Disease Ontology: ¹¹ A lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23.

More information from OMIM: 614915 PS253310

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Related Diseases for Lethal Congenital Contracture Syndrome 4

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

(show top 50) (show all 60)

#	Related Disease	Score	Top Affiliating Genes
1	distal arthrogryposis	27.9	TPM2 TNNT3 TNNI2 SMN2 SMN1 SMAD9
2	cardiomyopathy, familial hypertrophic, 4	10.2	MYBPC3 MYBPC2 MYBPC1
3	lethal congenital contracture syndrome 2	10.2	MYBPC2 MYBPC1 ADGRG6
4	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	10.2	TPM2 TNNT3 TNNI2
5	joubert syndrome 33	10.2	SMAD9 CTSC
6	congenital fiber-type disproportion	10.2	TPM2 TNNT3 TNNI2
7	fibromuscular dysplasia	10.2	OBSCN MYLK
8	myopathy, distal, 1	10.2	TPM2 MYH3 MYBPC3
9	hyaline body myopathy	10.1	TPM2 MYH3
10	mitochondrial dna depletion syndrome 12b	10.1	SMAD9 OBSCN MYBPC3
11	fissured tongue	10.1	TPM2 TNNT3 TNNI2 MYBPC1
12	spinal muscular atrophy type 0	10.1	SMN2 SMN1
13	46,xy sex reversal 1	10.1	SMN2 SMN1
14	spinal muscular atrophy, x-linked 2	10.1	SMN2 SMN1
15	autosomal recessive distal hereditary motor neuronopathy	10.1	SMN2 SMN1
16	arthrogryposis, distal, type 2b1	10.1	TPM2 TNNT3 TNNI2 MYH3
17	clubfoot	10.1	TPM2 TNNT3 MYH3 MYBPC1
18	arthrogryposis, distal, type 2b3	10.1	TPM2 TNNT3 TNNI2 MYH3
19	anterior horn cell disease	10.0	SMN2 SMN1
20	ceroid lipofuscinosis, neuronal, 7	10.0	SMN2 SMN1
21	patent ductus arteriosus 1	10.0	SMAD9 MYLK MYBPC3
22	childhood spinal muscular atrophy	10.0	SMN2 SMN1
23	amyloidosis, hereditary, transthyretin-related	10.0	SMN2 SMN1 MYBPC3
24	bone structure disease	10.0	SMN2 SMN1 ADGRG6
25	arthrogryposis, distal, type 10	10.0	TPM2 TNNT3 TNNI2 MYH3 MYBPC1
26	arthrogryposis, distal, type 5d	10.0	TPM2 TNNT3 TNNI2 MYH3 MYBPC1
27	constrictive pericarditis	10.0	TNNI3 MYBPC3
28	arthrogryposis, distal, type 7	10.0	TPM2 TNNT3 TNNI2 MYH3 MYBPC1
29	spondylocarpotarsal synostosis syndrome	10.0	TPM2 TNNT3 TNNI2 MYH3 MYBPC1
30	myotonic dystrophy 1	10.0	TNNT3 SMN2 SMN1
31	lethal congenital contracture syndrome 1	10.0
32	lethal congenital contracture syndrome	10.0
33	multiple pterygium syndrome, escobar variant	10.0	TPM2 TNNT3 TNNI2 MYH3 MYBPC1
34	spinal muscular atrophy, distal, autosomal recessive, 1	10.0	SMN2 SMN1
35	developmental and epileptic encephalopathy 11	9.9	TRIM8 SMAD9
36	muscle tissue disease	9.9	SMN2 SMN1 MYH3
37	left bundle branch hemiblock	9.9	TNNI3 MYBPC3
38	spinal muscular atrophy with progressive myoclonic epilepsy	9.9	SMN2 SMN1
39	cardiomyopathy, dilated, 1m	9.9	TNNI3 TNNI2
40	diastolic heart failure	9.9	TNNI3 MYBPC3
41	muscular disease	9.9	SMN2 SMN1 MYH3
42	arthrogryposis, distal, type 2a	9.9	TPM2 TNNT3 TNNI2 MYH3 MYBPC2 MYBPC1
43	arthrogryposis, distal, type 1a	9.9	TPM2 TNNT3 TNNI2 MYH3 MYBPC2 MYBPC1
44	necrotizing fasciitis	9.9	MYOM2 FN1
45	rheumatic myocarditis	9.8	TNNI3 MYOM2
46	left ventricular noncompaction	9.8	TNNI3 OBSCN MYBPC3 MYBPC2
47	atrial heart septal defect	9.8	TNNI3 SMAD9 MYBPC3
48	patent foramen ovale	9.8	TNNI3 SMAD9 MYBPC3
49	nemaline myopathy 5	9.8	TPM2 TNNT3 TNNI3 TNNI2
50	arthrogryposis, distal, type 5	9.8	TPM2 TNNT3 TNNI2 MYH3 MYBPC2 MYBPC1

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 4:

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 4

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

³⁰

#	Description	HPO Source Accession
1	respiratory insufficiency ³⁰	HP:0002093
2	skeletal muscle atrophy ³⁰	HP:0003202
3	multiple joint contractures ³⁰	HP:0002828
4	distal arthrogryposis ³⁰	HP:0005684

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Respiratory:
respiratory insufficiency at birth, lethal

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

Skeletal Limbs:
severe multiple joint contractures

Clinical features from OMIM®:

614915 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.14	ADGRG6 CTSC FN1 GSTP1 MYBPC1 MYBPC2
2	no effect	GR00402-S-2	10.14	ADGRG6 FN1 GSTP1 MYBPC2 MYH3 MYLK

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome 4:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10.15	ADGRG6 FN1 MYBPC1 MYBPC3 MYH3 MYLK
2	growth/size/body region	MP:0005378	10.13	ADGRG6 CTSC FN1 GSTP1 MYBPC1 MYBPC2
3	cardiovascular system	MP:0005385	9.97	ADGRG6 FN1 MYBPC2 MYBPC3 MYLK OBSCN
4	limbs/digits/tail	MP:0005371	9.87	FMN1 FN1 SMAD9 SMN1 SMN2 TNNI2
5	skeleton	MP:0005390	9.65	ADGRG6 FMN1 FN1 MYBPC1 MYLK SMAD9
6	mortality/aging	MP:0010768	9.53	ADGRG6 FMN1 FN1 MYBPC1 MYBPC2 MYH3

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 4

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 4

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Genetic Tests for Lethal Congenital Contracture Syndrome 4

Genetic tests related to Lethal Congenital Contracture Syndrome 4:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 4 ²⁸	MYBPC1

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Anatomical Context for Lethal Congenital Contracture Syndrome 4

Organs/tissues related to Lethal Congenital Contracture Syndrome 4:

MalaCards : Skeletal Muscle

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Publications for Lethal Congenital Contracture Syndrome 4

Articles related to Lethal Congenital Contracture Syndrome 4:

#	Title	Authors	PMID	Year
1	Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ⁶² ⁵⁷ ⁵	Markus B...Birk OS	22610851	2012

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Genes for Lethal Congenital Contracture Syndrome 4

Genes related to Lethal Congenital Contracture Syndrome 4 (1 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYBPC1	Myosin Binding Protein C1	Protein Coding	1015.49	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	22610851
2	MYBPC2	Myosin Binding Protein C2	Protein Coding	6.42	DISEASES inferred ¹⁴
3	MYBPC3	Myosin Binding Protein C3	Protein Coding	5.78	DISEASES inferred ¹⁴
4	TNNI2	Troponin I2, Fast Skeletal Type	Protein Coding	4.95	DISEASES inferred ¹⁴
5	TNNT3	Troponin T3, Fast Skeletal Type	Protein Coding	4.89	DISEASES inferred ¹⁴
6	OBSCN	Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF	Protein Coding	4.58	DISEASES inferred ¹⁴
7	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	4.56	DISEASES inferred ¹⁴
8	TPM2	Tropomyosin 2	Protein Coding	4.47	DISEASES inferred ¹⁴
9	MYH3	Myosin Heavy Chain 3	Protein Coding	4.33	DISEASES inferred ¹⁴
10	FMN1	Formin 1	Protein Coding	4.2	DISEASES inferred ¹⁴
11	TRIM8	Tripartite Motif Containing 8	Protein Coding	4.12	DISEASES inferred ¹⁴
12	CTSC	Cathepsin C	Protein Coding	3.98	DISEASES inferred ¹⁴
13	SMAD9	SMAD Family Member 9	Protein Coding	3.69	DISEASES inferred ¹⁴
14	SMN2	Survival Of Motor Neuron 2, Centromeric	Protein Coding	3.67	DISEASES inferred ¹⁴
15	MYLK	Myosin Light Chain Kinase	Protein Coding	3.66	DISEASES inferred ¹⁴
16	SMN1	Survival Of Motor Neuron 1, Telomeric	Protein Coding	3.59	DISEASES inferred ¹⁴
17	MYOM2	Myomesin 2	Protein Coding	3.33	DISEASES inferred ¹⁴
18	GSTP1	Glutathione S-Transferase Pi 1	Protein Coding	3.28	DISEASES inferred ¹⁴
19	TNNI3	Troponin I3, Cardiac Type	Protein Coding	3.16	DISEASES inferred ¹⁴
20	FN1	Fibronectin 1	Protein Coding	3.13	DISEASES inferred ¹⁴

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Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

⁵ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MYBPC1	NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)	SNV	Pathogenic	39766	rs397515422	GRCh37: 12:102038561-102038561 GRCh38: 12:101644783-101644783
2	MYBPC1	NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly)	SNV	Uncertain Significance	816808	rs1309691397	GRCh37: 12:102008280-102008280 GRCh38: 12:101614502-101614502
3	MYBPC1	NM_002465.4(MYBPC1):c.1634-18del	DEL	Benign	258658	rs3835190	GRCh37: 12:102046875-102046875 GRCh38: 12:101653097-101653097
4	MYBPC1	NM_002465.4(MYBPC1):c.2222-38T>C	SNV	Benign	1228159		GRCh37: 12:102057166-102057166 GRCh38: 12:101663388-101663388
5	MYBPC1	NM_002465.4(MYBPC1):c.3492+39C>T	SNV	Benign	1276920		GRCh37: 12:102076479-102076479 GRCh38: 12:101682701-101682701
6	MYBPC1	NM_002465.4(MYBPC1):c.1633+33T>C	SNV	Benign	1277918		GRCh37: 12:102046595-102046595 GRCh38: 12:101652817-101652817
7	MYBPC1	NM_002465.4(MYBPC1):c.774C>T (p.Asp258_Leu259=)	SNV	Benign	129647	rs2293468	GRCh37: 12:102036305-102036305 GRCh38: 12:101642527-101642527
8	MYBPC1	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939_Gly940=)	SNV	Benign	129645	rs764291	GRCh37: 12:102069077-102069077 GRCh38: 12:101675299-101675299
9	MYBPC1	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848_Pro849=)	SNV	Benign	129644	rs7139095	GRCh37: 12:102064118-102064118 GRCh38: 12:101670340-101670340
10	MYBPC1	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	SNV	Benign	129642	rs3817552	GRCh37: 12:102045163-102045163 GRCh38: 12:101651385-101651385
11	MYBPC1	NM_002465.4(MYBPC1):c.*78G>A	SNV	Benign	306752	rs2764	GRCh37: 12:102079418-102079418 GRCh38: 12:101685640-101685640

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Expression for Lethal Congenital Contracture Syndrome 4

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 4.

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Pathways for Lethal Congenital Contracture Syndrome 4

Pathways related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.34	TPM2 TNNT3 TNNI3 TNNI2 MYLK MYH3
2	Striated muscle contraction pathway ⁷⁴ Show member pathways Striated Muscle Contraction ⁶⁶	11.09	TPM2 TNNT3 TNNI3 TNNI2 MYH3 MYBPC3

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GO Terms for Lethal Congenital Contracture Syndrome 4

Cellular components related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	9.8	TNNI3 OBSCN MYH3 MYBPC3
2	Gemini of coiled bodies	GO:0097504	9.73	SMN2 SMN1
3	SMN complex	GO:0032797	9.71	SMN2 SMN1
4	troponin complex	GO:0005861	9.63	TNNI2 TNNI3 TNNT3
5	cardiac myofibril	GO:0097512	9.62	TNNI3 MYBPC3
6	myofibril	GO:0030016	9.43	TNNI3 OBSCN MYH3 MYBPC1
7	contractile fiber	GO:0043292	9.37	TNNI3 MYH3
8	myosin filament	GO:0032982	9.28	MYOM2 MYH3 MYBPC3 MYBPC2 MYBPC1

Biological processes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cardiac muscle contraction	GO:0060048	9.8	TNNI3 TNNI2 MYBPC3
2	sarcomere organization	GO:0045214	9.76	MYH3 MYOM2 OBSCN TNNT3
3	DNA-templated transcription termination	GO:0006353	9.73	SMN2 SMN1
4	regulation of ATP-dependent activity	GO:0043462	9.71	TPM2 TNNT3
5	regulation of striated muscle contraction	GO:0006942	9.67	TNNT3 MYBPC3
6	regulation of muscle contraction	GO:0006937	9.56	TNNT3 TNNI3 TNNI2
7	skeletal muscle contraction	GO:0003009	9.56	TNNT3 TNNI3 TNNI2 MYH3
8	muscle contraction	GO:0006936	9.36	TPM2 TNNT3 TNNI3 TNNI2 MYOM2 MYH3

Molecular functions related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of muscle	GO:0008307	9.73	MYBPC1 MYBPC2 MYBPC3 MYOM2 OBSCN TPM2
2	titin binding	GO:0031432	9.63	OBSCN MYBPC3 MYBPC1
3	troponin T binding	GO:0031014	9.62	TNNI3 TNNI2
4	actin binding	GO:0003779	9.6	TPM2 TNNT3 TNNI3 TNNI2 MYLK MYH3
5	troponin C binding	GO:0030172	9.56	TNNT3 TNNI3

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Sources for Lethal Congenital Contracture Syndrome 4

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCCS4 MCID: LTH026 MIFTS: 36	Lethal Congenital Contracture Syndrome 4 (LCCS4) 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 4 (LCCS4)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 4

Related Diseases for Lethal Congenital Contracture Syndrome 4

Diseases in the Lethal Congenital Contracture Syndrome family:

Diseases related to Lethal Congenital Contracture Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 4:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 4

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome 4:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 4

Genetic Tests for Lethal Congenital Contracture Syndrome 4

Genetic tests related to Lethal Congenital Contracture Syndrome 4:

Anatomical Context for Lethal Congenital Contracture Syndrome 4

Organs/tissues related to Lethal Congenital Contracture Syndrome 4:

Publications for Lethal Congenital Contracture Syndrome 4

Articles related to Lethal Congenital Contracture Syndrome 4:

Genes for Lethal Congenital Contracture Syndrome 4

Genes related to Lethal Congenital Contracture Syndrome 4 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

Expression for Lethal Congenital Contracture Syndrome 4

Pathways for Lethal Congenital Contracture Syndrome 4

Pathways related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

GO Terms for Lethal Congenital Contracture Syndrome 4

Cellular components related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

Biological processes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

Molecular functions related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:

Sources for Lethal Congenital Contracture Syndrome 4