Lethal Congenital Contracture Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 2

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 2:

Name: Lethal Congenital Contracture Syndrome 2 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ⁴⁴ ¹⁵ ⁷³

Lccs2 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁵

Multiple Contracture Syndrome, Israeli-Bedouin Type ¹² ⁵⁹

Lethal Congenital Contractural Syndrome 2 ⁵⁷ ¹³

Multiple Contracture Syndrome, Israeli Bedouin Type a ⁵⁷

Israeli Bedouin Multiple Contracture Syndrome Type a ⁷⁵

Multiple Contracture Syndrome, Israeli Bedouin Type ⁵³

Contracture Syndrome, Lethal, Congenital, Type 2 ⁴⁰

Lethal Congenital Contracture Syndrome Type 2 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

lethal congenital contracture syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
most affected infants die shortly after birth from respiratory failure

HPO:

³²

lethal congenital contracture syndrome 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital musculoskeletal deformities

Other specified congenital musculoskeletal deformities

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 607598

Disease Ontology ¹² DOID:0060560

ICD10 ³³ Q68.8

MeSH ⁴⁴ C564369 D001176

Orphanet ⁵⁹ ORPHA137776

UMLS via Orphanet ⁷⁴ C1843478

ICD10 via Orphanet ³⁴ Q68.8

MedGen ⁴² C1843478

UMLS ⁷³ C1843478

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Summaries for Lethal Congenital Contracture Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁵ Lethal congenital contracture syndrome 2: 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. LCCS2 patients manifest craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy and a unique feature of a markedly distended urinary bladder (neurogenic bladder defect). The phenotype suggests a spinal cord neuropathic etiology.

MalaCards based summary : Lethal Congenital Contracture Syndrome 2, also known as lccs2, is related to lethal congenital contracture syndrome and lethal congenital contracture syndrome 3. An important gene associated with Lethal Congenital Contracture Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and PI3K/AKT activation. The drugs Gliclazide and Indapamide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, spinal cord and lung, and related phenotypes are skeletal muscle atrophy and micrognathia

Disease Ontology : ¹² A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13.

Description from OMIM: 607598

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Related Diseases for Lethal Congenital Contracture Syndrome 2

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

#	Related Disease	Score	Top Affiliating Genes
1	lethal congenital contracture syndrome	29.3	GLE1 PIP5K1C
2	lethal congenital contracture syndrome 3	10.9
3	congenital contractures	10.1
4	mesenteric lymphadenitis	9.8	EGF ERBB3
5	lethal congenital contracture syndrome 1	9.7	GLE1 PIP5K1C
6	neurogenic bladder	9.4	ERBB3 PIP5K1C

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 2:

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory insufficiency
respiratory failure in infancy

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
no fetal hydrops

Genitourinary Kidneys:
hydronephrosis
cystic changes in the kidney

Skeletal:
arthrogryposis

Respiratory Lung:
normal lung histology

Neurologic Central Nervous System:
neurogenic muscle atrophy, especially in the lower limbs
anterior horn atrophy
spinal cord glial hyperplasia

Head And Neck Face:
micrognathia
hemifacial palsy

Prenatal Manifestations Movement:
decreased fetal movement
akinesia

Cardiovascular Heart:
ventricular septal defect (in some patients)
dilated cardiomyopathy (in some patients)

Head And Neck Eyes:
high myopia
degenerative vitreoretinopathy

Genitourinary Bladder:
distended urinary bladder

Clinical features from OMIM:

607598

Human phenotypes related to Lethal Congenital Contracture Syndrome 2:

³² (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	skeletal muscle atrophy ³²		HP:0003202
2	micrognathia ³²		HP:0000347
3	edema ³²		HP:0000969
4	arthrogryposis multiplex congenita ³²		HP:0002804
5	respiratory failure ³²		HP:0002878
6	polyhydramnios ³²		HP:0001561
7	ventricular septal defect ³²	occasional (7.5%)	HP:0001629
8	decreased fetal movement ³²		HP:0001558
9	hydronephrosis ³²		HP:0000126
10	dilated cardiomyopathy ³²	occasional (7.5%)	HP:0001644
11	akinesia ³²		HP:0002304
12	high myopia ³²		HP:0011003
13	degenerative vitreoretinopathy ³²		HP:0007964

GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:

²⁶ (show all 28)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-109	9.97	GLE1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-112	9.97	PIP5K1C
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	9.97	NTRK1 PIP5K1C
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-20	9.97	NTRK1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.97	ERBB3
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	9.97	GLE1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.97	ERBB3 GLE1 NTRK1 PIP5K1C
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	9.97	ERBB3 NTRK1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.68	PIP5K1C
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.68	ERBB3
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.68	ERBB3
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	9.68	PIP5K1C
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.68	GLE1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.68	ERBB3
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.68	NTRK1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.68	PIP5K1C
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.68	PIP5K1C
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.68	GLE1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.68	PIP5K1C
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-198	9.68	ERBB3
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-31	9.68	GLE1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.68	NTRK1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.68	PIP5K1C
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	9.68	NTRK1 PIP5K1C
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.68	NTRK1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	9.68	PIP5K1C
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.68	NTRK1 PIP5K1C ERBB3 GLE1
28	Increased senescence-associated beta-galactosidase protein expression after pRB stimulation	GR00230-A-2	8.96	ERBB3 NTRK1

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.26	EGF ERBB3 NTRK1 PIP5K1C
2	normal	MP:0002873	8.92	EGF ERBB3 NTRK1 PIP5K1C

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 2

Drugs for Lethal Congenital Contracture Syndrome 2 (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

Synonyms:

1-(3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]pyrrol-2-yl)-3-(4-methylphenyl)sulfonylurea

1-(3-azabicyclo(3.3.0)Oct-3-yl)-3-(P-tolylsulfonyl)urea

1-(3-Azabicyclo(3.3.0)oct-3-yl)-3-(p-tolylsulfonyl)urea

1-(3-azabicyclo(3.3.0)Oct-3-yl)-3-(P-tolylsulphonyl)urea

1-(3-Azabicyclo[3.3.0]oct-3-yl)-3-p-tolylsulphonylurea

1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(p-tolylsulfonyl)urea

1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(P-tolylsulfonyl)urea

1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(P-tolylsulphonyl)urea

21187-98-4

AB00053165

AB1004595

AC-12045

AC1L1G0Q

AKOS003237903

Alphapharm brand OF gliclazide

Bio-0502

BPBio1_000699

BRD-A61154809-001-04-3

BRN 1657836

BSPBio_000635

BSPBio_003304

C15H21N3O3S

CHEBI:31654

CHEMBL427216

CID3475

D01599

DB01120

Diabrezide

Diaglyk

Diaikron

Diamicron

Diamicron MR

DivK1c_006966

EINECS 244-260-5

G2167_SIGMA

Gen gliclazide

Generics brand OF gliclazide

Gen-gliclazide

Genpharm brand OF gliclazide

Gliclazida

Gliclazida [INN-Spanish]

gliclazide

Gliclazide (JAN/INN)

Gliclazide [BAN:INN:DCF:JAN]

Gliclazide servier brand

Gliclazidum

Gliclazidum [INN-Latin]

Gliklazid

Glimicron

Glimicron (TN)

Glyade

Glyclazide

Helsinn brand OF gliclazide

HMS1569P17

HMS1922D15

HMS2090K16

I06-0117

KBio1_001910

KBio2_001958

KBio2_004526

KBio2_007094

KBio3_002806

KBioGR_001096

KBioSS_001958

LS-160299

MLS001215197

MLS001304077

MLS001304118

MolPort-002-507-779

Mylan-Gliclazide

N-(4-Methylbenzenesulfonyl)-n'-(3-azabicyclo(3.3.0)oct-3-yl)urea

N-(4-Methylbenzenesulfonyl)-N'-(3-azabicyclo(3.3.0)oct-3-yl)urea

N-(hexahydrocyclopenta[c]pyrrol-2(1H)-ylcarbamoyl)-4-methylbenzenesulfonamide

N-[(hexahydrocyclopenta[c]pyrrol-2(1H)-ylamino)carbonyl]-4-methylbenzenesulfonamide

NCGC00095107-01

NCGC00095107-02

NCGC00095107-03

NCGC00095107-04

NCGC00095107-05

NCGC00095107-06

Nordialex

novo Gliclazide

novo-Gliclazide

Novopharm brand OF gliclazide

PMS-Gliclazide

Prestwick_869

Prestwick0_000558

Prestwick1_000558

Prestwick2_000558

Prestwick3_000558

S 1702

S 852

S-1702

S-852

SE 1702

Servier brand OF gliclazide

SMR000542971

SPBio_002556

SpecPlus_000870

Spectrum_001478

SPECTRUM1504145

SPECTRUM1505013

Spectrum3_001862

Spectrum4_000598

Spectrum5_000753

STK803142

2

Indapamide

Approved

26807-65-8

3702

Synonyms:

1-(4-Chloro-3-sulfamoylbenzamido)-2-methylindoline

26807-65-8

3-(Aminosulfonyl)-4-chloro-N-(2,3-dihydro-2-methyl-1H-indol-1-yl)benzamide

49564-58-1

4-Chloro-N-(2-methyl-1-indolinyl)-3-sulfamoylbenzamide

4-chloro-N-(2-methyl-2,3-dihydroindol-1-yl)-3-sulfamoylbenzamide

5-20-06-00348 (Beilstein Handbook Reference)

AB00052021

AC1L1GIW

AC-2073

Apo-Indapamide

Arifon

Bajaten

Benzamide, 3-(aminosulfonyl)-4-chloro-N-(2,3-dihydro-2-methyl-1H-indol-1-yl)- (9CI)

BPBio1_000263

BRD-A95869247-001-04-6

BRN 1604026

BSPBio_000239

BSPBio_002174

CHEMBL406

CID3702

Cormil

CPD000058829

D00345

Damide

DB00808

DivK1c_000508

EINECS 248-012-7

Fludex

HMS1920F19

HMS2090M16

HMS2091N07

HMS501J10

I01-0369

I0730

I1887_FLUKA

I1887_SIGMA

Idapamide

IDI1_000508

Indaflex

Indamol

Indapamid

Indapamida

Indapamida [INN-Spanish]

indapamide

Indapamide

Indapamide (JAN/USP)

Indapamide (USP)

Indapamide [USAN:INN:BAN:JAN]

Indapamidum

Indapamidum [INN-Latin]

Ipamix

KBio1_000508

KBio2_001397

KBio2_003965

KBio2_006533

KBio3_001394

KBioGR_000393

KBioSS_001397

Lozide

Lozol

Lozol (TN)

LS-26138

Metindamide

MLS000028554

MLS001148152

MLS002222229

MolPort-003-666-209

N-(4-Chloro-3-sulfamoylbenzamido)-2-methylindoline

N-[4-Chloro-3-sulfamoylbenzamido]-2- methylindoline

Natrilix

Natrix

Natrix (TN)

NCGC00089727-02

NCGC00089727-03

NINDS_000508

NLozol, Arifon, Fludex, Noranat, Veroxil, Tertensif, Indapamide

Noranat

Novo-Indapamide

Nu-Indapamide

Pressurai

Prestwick3_000220

RHC 2555

S-1520

S1730_Selleck

SAM002564214

SE 1520

SE-1520

SMR000058829

SPBio_001019

Spectrum_000917

SPECTRUM1500349

Spectrum2_000980

Spectrum3_000467

Spectrum4_000017

Spectrum5_000866

ST51015024

Tandix

Tertensif

TL8002131

UNII-F089I0511L

USV 2555

Veroxil

3

Perindopril

Approved

107133-36-8, 82834-16-0

107807

Synonyms:

(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid

(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid

(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylate

(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid

(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid

82834-16-0

82834-16-0 (Parent)

99149-83-4

AC1L32S9

Aceon

ACEON

BIDD:GT0786

BRD-K92731339-227-02-3

BSPBio_003206

C07706

C19H32N2O5

CHEBI:8024

CHEMBL1581

CID107807

Coverene Cor

Coverex

Coversum

Coversyl

cpd with unspecified MF

D03753

DB00790

DW-7950

Erbumine, perindopril

ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate

KBio2_002494

KBio2_005062

KBio2_007630

KBio3_002426

KBioGR_001190

KBioSS_002502

LS-178402

McN-A-2833

MLS002154153

MolPort-005-935-307

PERINDOPRIL

Perindopril (USAN/INN)

Perindopril erbumine

Perindopril Erbumine

Perindoprilum

Perstarium

Pirindopril

Prestarium

S-9490

SED-9490

SMR001233453

SPBio_001216

Spectrum_001948

Spectrum2_001108

Spectrum3_001683

Spectrum4_000775

Spectrum5_001689

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 2

Cochrane evidence based reviews: lethal congenital contracture syndrome 2

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Genetic Tests for Lethal Congenital Contracture Syndrome 2

Genetic tests related to Lethal Congenital Contracture Syndrome 2:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 2 ²⁹	ERBB3

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Anatomical Context for Lethal Congenital Contracture Syndrome 2

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 2:

⁴¹

Skeletal Muscle, Spinal Cord, Lung, Kidney

Sources

Publications for Lethal Congenital Contracture Syndrome 2

Articles related to Lethal Congenital Contracture Syndrome 2:

#	Title	Authors	Year
1	Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3- kinase/Akt pathway. ( 17701904 )	Narkis G....Birk O.S.	2007
2	Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )	Narkis G....Birk O.S.	2004

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Genes for Lethal Congenital Contracture Syndrome 2

Genes related to Lethal Congenital Contracture Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1382.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name (show sections)	17701904
2	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	18.47	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	GLE1	GLE1, RNA Export Mediator	Protein Coding	16.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	14.83	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	EGF	Epidermal Growth Factor	Protein Coding	14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Lethal Congenital Contracture Syndrome 2

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ERBB3	ERBB3, IVS10, A-G, -8	single nucleotide variant	Pathogenic

Sources

Expression for Lethal Congenital Contracture Syndrome 2

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 2.

Sources

Pathways for Lethal Congenital Contracture Syndrome 2

Pathways related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.51	EGF ERBB3 NTRK1
2	PI3K/AKT activation ⁶⁶ Show member pathways Constitutive Signaling by Aberrant PI3K in Cancer ⁶⁶ GAB1 signalosome ⁶⁶ Negative regulation of the PI3K/AKT network ⁶⁶ PI3K/AKT Signaling in Cancer ⁶⁶ PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ⁶⁶ PIP3 activates AKT signaling ⁶⁶ Role of LAT2/NTAL/LAB on calcium mobilization ⁶⁶	12.39	EGF ERBB3 NTRK1 PIP5K1C
3	MAPK signaling pathway ¹ ³⁷	12.3	EGF ERBB3 NTRK1
4	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.25	EGF ERBB3 PIP5K1C
5	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.66	ERBB3 NTRK1
6	Signaling by PTK6 ⁶⁶ Show member pathways PTK6 Activates STAT3 ⁶⁶ PTK6 Down-Regulation ⁶⁶ PTK6 Expression ⁶⁶ PTK6 promotes HIF1A stabilization ⁶⁶ PTK6 Regulates Proteins Involved in RNA Processing ⁶⁶ PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases ⁶⁶ PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 ⁶⁶ RAS signaling downstream of NF1 loss-of-function variants ⁶⁶	11.65	EGF ERBB3
7	Signaling by ERBB4 ⁶⁶ Show member pathways Downregulation of ERBB4 signaling ⁶⁶ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁶	11.56	EGF ERBB3
8	Endocytic Trafficking of EGFR ⁶⁴ Show member pathways Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF) ²² Recycling pathway of L1 ⁶⁶ Retrograde neurotrophin signalling ⁶⁶	11.39	EGF NTRK1
9	AKT Signaling Pathway ⁶⁷	11.29	ERBB3 NTRK1 PIP5K1C
10	Alzheimers Disease Pathway ⁶⁴	11.06	ERBB3 NTRK1
11	Stabilization and expansion of the E-cadherin adherens junction ¹	10.97	EGF PIP5K1C
12	Tyrosine Kinases / Adaptors ⁴	10.97	EGF ERBB3 NTRK1
13	a6b1 and a6b4 Integrin signaling ¹	10.81	EGF ERBB3
14	EGF receptor (ErbB1) signaling pathway ¹	10.65	EGF PIP5K1C

Sources

GO Terms for Lethal Congenital Contracture Syndrome 2

Cellular components related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	receptor complex	GO:0043235	8.8	EGF ERBB3 NTRK1

Biological processes related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylation	GO:0016310	9.65	ERBB3 NTRK1 PIP5K1C
2	negative regulation of neuron apoptotic process	GO:0043524	9.54	ERBB3 NTRK1
3	membrane organization	GO:0061024	9.52	EGF PIP5K1C
4	transmembrane receptor protein tyrosine kinase signaling pathway	GO:0007169	9.51	ERBB3 NTRK1
5	negative regulation of signal transduction	GO:0009968	9.49	ERBB3 NTRK1
6	positive regulation of kinase activity	GO:0033674	9.46	ERBB3 NTRK1
7	activation of MAPKK activity	GO:0000186	9.43	EGF NTRK1
8	ERBB2 signaling pathway	GO:0038128	9.4	EGF ERBB3
9	positive regulation of protein tyrosine kinase activity	GO:0061098	9.37	EGF ERBB3
10	peptidyl-tyrosine phosphorylation	GO:0018108	9.33	EGF ERBB3 NTRK1
11	regulation of cell motility	GO:2000145	9.32	EGF ERBB3
12	negative regulation of ERBB signaling pathway	GO:1901185	9.26	EGF ERBB3
13	phosphatidylinositol phosphorylation	GO:0046854	9.13	EGF ERBB3 PIP5K1C
14	negative regulation of secretion	GO:0051048	8.62	EGF ERBB3

Molecular functions related to Lethal Congenital Contracture Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	kinase activity	GO:0016301	9.54	ERBB3 NTRK1 PIP5K1C
2	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.4	EGF ERBB3
3	MAP kinase kinase kinase activity	GO:0004709	9.32	ERBB3 NTRK1
4	mitogen-activated protein kinase kinase binding	GO:0031434	9.26	ERBB3 NTRK1
5	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	9.16	EGF ERBB3
6	transmembrane receptor protein tyrosine kinase activity	GO:0004714	8.96	ERBB3 NTRK1
7	protein tyrosine kinase activity	GO:0004713	8.8	EGF ERBB3 NTRK1

Sources

Sources for Lethal Congenital Contracture Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia