Lymphatic Malformation 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lymphatic Malformation 12

MalaCards integrated aliases for Lymphatic Malformation 12:

Name: Lymphatic Malformation 12 ⁵⁷ ⁵

Central Conducting Lymphatic Anomaly ⁵⁷ ¹¹

Lymphatic Malformation-7 ¹¹

Doid:0081030 ¹⁴

Lmphm12 ⁵⁷

Ccla ⁵⁷

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable severity
variable features may be present
affected individuals may be stillborn due to hydrops fetalis

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases
Anatomical: Immune diseases Cardiovascular diseases Reproductive diseases Skin diseases Neuronal diseases Gastrointestinal diseases Respiratory diseases Oral diseases

See all MalaCards categories (disease lists)

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Summaries for Lymphatic Malformation 12

OMIM®: ⁵⁷ Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). (620014) (Updated 08-Dec-2022)

MalaCards based summary: Lymphatic Malformation 12, also known as central conducting lymphatic anomaly, is related to capillary malformation-arteriovenous malformation 1 and lymphatic system disease. An important gene associated with Lymphatic Malformation 12 is MDFIC (MyoD Family Inhibitor Domain Containing), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include placenta, testis and lymph node, and related phenotypes are inguinal hernia and hyperkeratosis

Disease Ontology: ¹¹ A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has material basis in heterozygous mutation in the EPHB4 gene on chromosome 7q22.

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Related Diseases for Lymphatic Malformation 12

Diseases in the Rare Lymphatic Malformation family:

Lymphatic Malformation 1	Lymphatic Malformation 5
Lymphatic Malformation 2	Lymphatic Malformation 3
Lymphatic Malformation 4	Lymphatic Malformation 6
Lymphatic Malformation 7	Lymphatic Malformation 8
Lymphatic Malformation 9	Lymphatic Malformation 10
Lymphatic Malformation 11	Lymphatic Malformation 12

Diseases related to Lymphatic Malformation 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)

#	Related Disease	Score	Top Affiliating Genes
1	capillary malformation-arteriovenous malformation 1	30.4	RASA1 EPHB4
2	lymphatic system disease	10.3
3	weber syndrome	10.1	RASA1 EPHB4
4	digeorge syndrome	10.1
5	down syndrome	10.1
6	ascites, chylous	10.1
7	hydrops fetalis, nonimmune	10.1
8	chromosome 22q11.2 deletion syndrome, distal	10.1
9	lymphatic malformation 7	10.1
10	hereditary lymphedema i	10.1
11	lymphangioma	10.1
12	hemangioma	10.1
13	pyogenic granuloma	10.1	EPHB4 EFNB2
14	hemangioma of intra-abdominal structure	10.1	SYNGAP1 RASA1
15	taylor's syndrome	10.1	SYNGAP1 RASA1
16	angiokeratoma circumscriptum	10.1	SYNGAP1 RASA1
17	capillary lymphangioma	10.0	SYNGAP1 RASA1
18	intracranial structure hemangioma	10.0	SYNGAP1 RASA1
19	intracranial cavernous angioma	10.0	SYNGAP1 RASA1
20	venous malformations, multiple cutaneous and mucosal	10.0	SYNGAP1 RASA1
21	congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	10.0	SYNGAP1 RASA1
22	lymphedema-distichiasis syndrome	10.0	EPHB4 EFNB2
23	aspergillosis	10.0
24	invasive aspergillosis	10.0
25	capillary hemangioma	10.0	SYNGAP1 RASA1
26	sturge-weber syndrome	10.0	SYNGAP1 RASA1
27	infiltrating angiolipoma	9.9	SYNGAP1 RASA1 EPHB4
28	klippel-trenaunay-weber syndrome	9.9	SYNGAP1 RASA1 EPHB4
29	cardiovascular organ benign neoplasm	9.9	SYNGAP1 RASA1 EPHB4
30	pylorospasm	9.9	RASA2 A2ML1
31	proteus syndrome	9.9	SYNGAP1 RASA1
32	chylothorax, congenital	9.9	SOS2 EFNB2
33	trophoblastic neoplasm	9.8	RASA2 RASA1
34	nevus, epidermal	9.7	SYNGAP1 RASA1
35	pseudo-turner syndrome	9.7	SOS2 RRAS2
36	hereditary hemorrhagic telangiectasia	9.7	SYNGAP1 RASA1 EPHB4 EFNB2
37	noonan syndrome-like disorder with loose anagen hair	9.7	SOS2 RASA2
38	gingival fibromatosis	9.6	SOS2 RASA2 RASA1
39	pulmonary valve stenosis	9.5	SOS2 RASA2 A2ML1
40	pulmonary valve disease	9.5	SOS2 RASA2 A2ML1
41	juvenile myelomonocytic leukemia	9.4	SOS2 RRAS2 RASA2
42	arteriovenous malformations of the brain	9.4	SYNGAP1 RASA2 RASA1 EPHB4 EFNB2
43	arteriovenous malformation	9.4	SYNGAP1 RASA2 RASA1 EPHB4 EFNB2
44	neurofibromatosis-noonan syndrome	9.3	SOS2 RRAS2 RASA2 A2ML1
45	costello syndrome	9.1	SYNGAP1 SOS2 RASA2 RASA1 A2ML1
46	noonan syndrome with multiple lentigines	8.7	SYNGAP1 SOS2 RRAS2 RASA2 RASA1 ARAF
47	cardiofaciocutaneous syndrome 1	8.7	SYNGAP1 SOS2 RRAS2 RASA2 RASA1 ARAF
48	rasopathy	8.7	SYNGAP1 SOS2 RRAS2 RASA2 RASA1 ARAF
49	noonan syndrome 1	8.7	SYNGAP1 SOS2 RRAS2 RASA2 RASA1 ARAF

Graphical network of the top 20 diseases related to Lymphatic Malformation 12:

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Symptoms & Phenotypes for Lymphatic Malformation 12

Human phenotypes related to Lymphatic Malformation 12:

³⁰ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	inguinal hernia ³⁰	Very rare (1%)	HP:0000023
2	hyperkeratosis ³⁰	Very rare (1%)	HP:0000962
3	lymphedema ³⁰	Very rare (1%)	HP:0001004
4	neonatal respiratory distress ³⁰	Very rare (1%)	HP:0002643
5	polyhydramnios ³⁰	Very rare (1%)	HP:0001561
6	fetal ascites ³⁰	Very rare (1%)	HP:0001791
7	hydrocele testis ³⁰	Very rare (1%)	HP:0000034
8	recurrent upper and lower respiratory tract infections ³⁰	Very rare (1%)	HP:0200117
9	nonimmune hydrops fetalis ³⁰	Very rare (1%)	HP:0001790
10	pleural thickening ³⁰	Very rare (1%)	HP:0031944
11	fetal pericardial effusion ³⁰	Very rare (1%)	HP:0025671
12	fetal chylothorax ³⁰	Very rare (1%)	HP:0025677

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
ptosis
edema around eyes
edema of eyelids

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest:
chylothorax
dilated thoracic duct
hypoplastic or absent thoracic duct

Genitourinary External Genitalia Male:
hydrocele

Skin Nails Hair Skin:
subcutaneous edema
large cutaneous lymph channels
lymphedema below the knees

Abdomen:
ascites
retrograde mesenteric lymph flow

Cardiovascular Heart:
mitral valve prolapse
ventricular septal defect
pericardial effusion

Respiratory Lung:
pulmonary hypoplasia
frequent infections
pleural effusions, recurrent chylous

Cardiovascular Vascular:
patent foramen ovale

Prenatal Manifestations:
hydrops fetalis, nonimmune

Prenatal Manifestations Placenta And Umbilical Cord:
edematous placenta

Clinical features from OMIM®:

620014 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lymphatic Malformation 12 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	9.4	ARAF EPHB4
2	Decreased viability	GR00221-A-2	9.4	EPHB4
3	Decreased viability	GR00221-A-3	9.4	RASA1
4	Decreased viability	GR00221-A-4	9.4	ARAF EPHB4 RASA1 RASA2
5	Decreased viability	GR00301-A	9.4	EPHB4
6	Decreased viability	GR00381-A-1	9.4	RASA1
7	Decreased viability	GR00386-A-1	9.4	RASA1
8	Decreased viability	GR00402-S-2	9.4	EPHB4

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Drugs & Therapeutics for Lymphatic Malformation 12

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Lymphatic Anomalies Registry for the Assessment of Outcome Data	Recruiting	NCT02399527

Search NIH Clinical Center for Lymphatic Malformation 12

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Genetic Tests for Lymphatic Malformation 12

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Anatomical Context for Lymphatic Malformation 12

Organs/tissues related to Lymphatic Malformation 12:

MalaCards : Placenta, Testis, Lymph Node, Breast, Liver

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Publications for Lymphatic Malformation 12

Articles related to Lymphatic Malformation 12:

(show top 50) (show all 71)

#	Title	Authors	PMID	Year
1	Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. ⁶² ⁵⁷ ⁵	Byrne AB...Harvey NL	35235341	2022
2	A neonatal case of central conducting lymphatic anomaly successfully treated with sirolimus. ⁶²	Passarello L...Popat H	35652569	2022
3	Non-Surgical Transversal Dentoalveolar Compensation with Completely Customized Lingual Appliances versus Surgically Assisted Rapid Palatal Expansion in Adults-The Amount of Posterior Crossbite Correction. ⁶²	Schmid JQ...Middelberg C	36422069	2022
4	Double Valorization for a Discard-α-Chitin and Calcium Lactate Production from the Crab Polybius henslowii Using a Deep Eutectic Solvent Approach. ⁶²	McReynolds C...Fernandes SCM	36421995	2022
5	Pain perception following computer-controlled versus conventional dental anesthesia: randomized controlled trial. ⁶²	Attia S...Riad A	36138388	2022
6	Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. ⁶²	Liu M...Sheppard SE	35606495	2022
7	Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. ⁶²	Liu M...Sheppard SE	35654890	2022
8	Optimization of Ultrasonic-Assisted Extraction (UAE) Method Using Natural Deep Eutectic Solvent (NADES) to Increase Curcuminoid Yield from Curcuma longa L., Curcuma xanthorrhiza, and Curcuma mangga Val. ⁶²	Rosarina D...Hermansyah H	36144813	2022
9	Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment. ⁶²	Snyder EJ...Tekes A	35043669	2022
10	Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy. ⁶²	Kleimeier LER...Draaisma JMT	35683512	2022
11	Is dentin biomodification with collagen cross-linking agents effective for improving dentin adhesion? A systematic review and meta-analysis. ⁶²	Silva JC...Saboia VPA	35692222	2022
12	Layer 6A Pyramidal Cell Subtypes Form Synaptic Microcircuits with Distinct Functional and Structural Properties. ⁶²	Yang D...Feldmeyer D	34628499	2022
13	Combination Strategy of Genetic Dereplication and Manipulation of Epigenetic Regulators Reveals a Novel Compound from Plant Endophytic Fungus. ⁶²	Yang L...Liu X	35409046	2022
14	Indications and Limitations of Sirolimus in the Treatment of Vascular Anomalies-Insights From a Retrospective Case Series. ⁶²	Karastaneva A...Benesch M	35676905	2022
15	Case Report: Progressive central conducting lymphatic abnormalities in the RASopathies. Two case reports, including successful treatment by MEK inhibition. ⁶²	Gordon K...Mansour S	36238151	2022
16	Objective treatment outcome assessment of a completely customized lingual appliance: A retrospective study. ⁶²	AlQatami FM...Schwestka-Polly R	34305012	2021
17	Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. ⁶²	Rossler J...Kapp FG	33580918	2021
18	Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes. ⁶²	Martin-Almedina S...Ostergaard P	33864021	2021
19	Chylous cyst-venous shunt for the management of central conducting lymphatic anomaly. ⁶²	Amore MA...Papendieck CM	33997561	2021
20	Class II correction by maxillary en masse distalization using a completely customized lingual appliance and a novel mini-screw anchorage concept - preliminary results. ⁶²	Beyling F...Wiechmann D	34187487	2021
21	Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1. ⁶²	Li D...Hakonarson H	33433009	2021
22	Likelihood of myocardial infarction, revascularization and death following catheterization laboratory activation in patients with vs. without both chest pain and ST elevation. ⁶²	Puleo P...Stoltzfus J	32541211	2021
23	CCLA: an accurate method and web server for cancer cell line authentication using gene expression profiles. ⁶²	Zhang Q...Guo AY	32510568	2021
24	Laryngotracheal Reconstruction in a Patient With a Central Conducting Lymphatic Anomaly. ⁶²	Macielak RJ...Balakrishnan K	32902851	2021
25	Controlling incisor torque with completely customized lingual appliances. ⁶²	Alouini O...Wiechmann D	32472341	2020
26	Surgical Residents as Certified Bilingual Speakers: A Quality Improvement Initiative. ⁶²	Solomon A...Garcia AV	32165106	2020
27	Inhibition of jasmonate-mediated plant defences by the fungal metabolite higginsianin B. ⁶²	Dallery JF...O'Connell RJ	32006004	2020
28	Liver lipid metabolism disruption in cancer cachexia is aggravated by cla supplementation -induced inflammation. ⁶²	Goncalves DC...Seelaender MCL	30322784	2019
29	Regulation of subtelomeric fungal secondary metabolite genes by H3K4me3 regulators CclA and KdmB. ⁶²	Lukito Y...Scott B	31165508	2019
30	ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. ⁶²	Li D...Hakonarson H	31263281	2019
31	The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies. ⁶²	Ozeki M...Fukao T	31196128	2019
32	H3K4 trimethylation by CclA regulates pathogenicity and the production of three families of terpenoid secondary metabolites in Colletotrichum higginsianum. ⁶²	Dallery JF...O'Connell RJ	30924614	2019
33	Factors Associated With Accuracy of Self-Assessment Compared With Tested Non-English Language Proficiency Among Primary Care Providers. ⁶²	Diamond L...Gany F	30844905	2019
34	Deleting a Chromatin Remodeling Gene Increases the Diversity of Secondary Metabolites Produced by Colletotrichum higginsianum. ⁶²	Dallery JF...Ouazzani J	30776231	2019
35	Baculovirus IE2 Interacts with Viral DNA through Daxx To Generate an Organized Nuclear Body Structure for Gene Activation in Vero Cells. ⁶²	Wei SC...Chao YC	30728268	2019
36	Lymphaticovenous bypass of the thoracic duct for the treatment of chylous leak in central conducting lymphatic anomalies. ⁶²	Taghinia AH...Fishman SJ	30292452	2019
37	Evidence of a Demethylase-Independent Role for the H3K4-Specific Histone Demethylases in Aspergillus nidulans and Fusarium graminearum Secondary Metabolism. ⁶²	Bachleitner S...Strauss J	31456754	2019
38	Speed and energy optimized quasi-delay-insensitive block carry lookahead adder. ⁶²	Balasubramanian P...Mastorakis NE	31226125	2019
39	Abdominal lymphatic malformations. ⁶²	Wohlgemuth WA...Schreyer AG	29796772	2018
40	Quality of occlusal outcome following space closure in cases of lower second premolar aplasia using lingual orthodontic molar mesialization without maxillary counterbalancing extraction. ⁶²	Klang E...Wiechmann D	30249268	2018
41	Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. ⁶²	Li D...Hakonarson H	29905864	2018
42	[Abdominal lymphatic malformations. German version]. ⁶²	Wohlgemuth WA...Schreyer AG	29242954	2018
43	Single tooth torque correction in the lower frontal area by a completely customized lingual appliance. ⁶²	Jacobs C...Schwestka-Polly R	29017523	2017
44	Identification of an itaconic acid degrading pathway in itaconic acid producing Aspergillus terreus. ⁶²	Chen M...Lu X	27102125	2016
45	Imaging features of kaposiform lymphangiomatosis. ⁶²	Goyal P...Chaudry G	27053281	2016
46	McCormick et al. A Case of a Central Conducting Lymphatic Anomaly Responsive to Sirolimus. Pediatrics. 2016;137(1):e20152694. ⁶²		27033110	2016
47	A Case of a Central Conducting Lymphatic Anomaly Responsive to Sirolimus. ⁶²	McCormick A...Balest A	26729539	2016
48	An overproduction of astellolides induced by genetic disruption of chromatin-remodeling factors in Aspergillus oryzae. ⁶²	Shinohara Y...Koyama Y	26126743	2016
49	Stress response and adaptation of Listeria monocytogenes 08-5923 exposed to a sublethal dose of carnocyclin A. ⁶²	Liu X...McMullen LM	24747893	2014
50	Relationship between self-assessed and tested non-English-language proficiency among primary care providers. ⁶²	Diamond L...Gany F	24556893	2014

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Genes for Lymphatic Malformation 12

Genes related to Lymphatic Malformation 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MDFIC	MyoD Family Inhibitor Domain Containing	Protein Coding	904.59	Molecular basis known ⁵⁷ Pathogenic ⁵ DISEASES inferred ¹⁴	35235341
2	EPHB4	EPH Receptor B4	Protein Coding	6.6	DISEASES inferred ¹⁴
3	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	6.46	DISEASES inferred ¹⁴
4	RASA1	RAS P21 Protein Activator 1	Protein Coding	5.63	DISEASES inferred ¹⁴
5	EFNB2	Ephrin B2	Protein Coding	5.57	DISEASES inferred ¹⁴
6	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	5.3	DISEASES inferred ¹⁴
7	A2ML1	Alpha-2-Macroglobulin Like 1	Protein Coding	5.26	DISEASES inferred ¹⁴
8	RASA2	RAS P21 Protein Activator 2	Protein Coding	5.25	DISEASES inferred ¹⁴
9	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	5.04	DISEASES inferred ¹⁴
10	RRAS2	RAS Related 2	Protein Coding	5	DISEASES inferred ¹⁴

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Variations for Lymphatic Malformation 12

ClinVar genetic disease variations for Lymphatic Malformation 12:

⁵

#	Gene	Name	Type	Significance	ClinVarId	Position
1	MDFIC	NM_001166345.3(MDFIC):c.391dup (p.Met131fs)	DUP	Pathogenic	1702938	GRCh37: 7:114619728-114619729 GRCh38: 7:114979673-114979674
2	MDFIC	NM_001166345.3(MDFIC):c.732T>G (p.Phe244Leu)	SNV	Pathogenic	1702939	GRCh37: 7:114655980-114655980 GRCh38: 7:115015926-115015926
3	MDFIC	NM_001166345.3(MDFIC):c.371del (p.Leu123_Ser124insTer)	DEL	Pathogenic	1702940	GRCh37: 7:114619714-114619714 GRCh38: 7:114979659-114979659
4	MDFIC	NM_001166345.3(MDFIC):c.187G>T (p.Gly63Ter)	SNV	Pathogenic	1702941	GRCh37: 7:114582422-114582422 GRCh38: 7:114942367-114942367

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Expression for Lymphatic Malformation 12

Search GEO for disease gene expression data for Lymphatic Malformation 12.

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Pathways for Lymphatic Malformation 12

Pathways related to Lymphatic Malformation 12 according to GeneCards Suite gene sharing:

(show all 24)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.52	ARAF EPHB4 RASA1 RRAS2 SOS2 SYNGAP1
2	Signal Transduction ⁶⁶	13.48	SYNGAP1 SOS2 RRAS2 RASA2 RASA1 ARAF
3	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.12	SYNGAP1 SOS2 RRAS2 RASA2 RASA1 ARAF
4	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.58	SOS2 RRAS2 RASA1 ARAF
5	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.38	SOS2 RRAS2 ARAF
6	EPH-Ephrin signaling ⁶⁶ Show member pathways Cell adhesion Ephrins signaling ²² Cytoskeleton remodeling Fibronectin-binding integrins in cell motility ²² EPHB forward signaling ⁶¹ EPHB-mediated forward signaling ⁶⁶ EPH-ephrin mediated repulsion of cells ⁶⁶ Ephrin signaling ⁶⁶ EphrinB-EPHB pathway ⁶¹	12.33	RASA1 EPHB4 EFNB2
7	Semaphorin interactions ⁶⁶ Show member pathways CRMPs in Sema3A signaling ⁶⁶ Other semaphorin interactions ⁶⁶ RHO GTPases activate CIT ⁶⁶ RHO GTPases activate PAKs ⁶⁶ RHO GTPases Activate ROCKs ⁶⁶ Sema3A PAK dependent Axon repulsion ⁶⁶ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁶ Sema4D in semaphorin signaling ⁶⁶ Sema4D induced cell migration and growth-cone collapse ⁶⁶ Sema4D mediated inhibition of cell attachment and migration ⁶⁶ Semaphorin Signaling ⁶⁴	12.2	SOS2 RASA2 RASA1 ARAF
8	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.15	SOS2 RASA1 ARAF
9	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.15	SOS2 RRAS2 RASA1
10	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.15	SOS2 RRAS2 RASA1 ARAF
11	EphB-EphrinB Signaling ⁶⁴ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²² Ephrin-Eph Signaling ⁶⁴	12.09	SOS2 RASA1 EPHB4 EFNB2
12	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	12.01	ARAF EPHB4 RASA1 RRAS2 SOS2
13	Integrin-mediated cell adhesion ⁷⁴ Show member pathways HGF Pathway ⁶⁴	12	SOS2 RRAS2 ARAF
14	MAPK signaling pathway ⁷⁴	11.94	SOS2 RRAS2 RASA2 RASA1 ARAF
15	GDNF-Family Ligands and Receptor Interactions ⁶⁴ Show member pathways BDNF Pathway ⁶⁴ Development GDNF family signaling ²²	11.93	SOS2 RRAS2 RASA1
16	NGF Pathway ⁶⁴ Show member pathways MAPK and NFkB signaling pathways inhibited by Yersinia YopJ ⁷⁴ TRKA Signaling ⁶⁴	11.89	SOS2 RRAS2 ARAF
17	CCR3 Pathway in Eosinophils ⁶⁴ Show member pathways VEGF and S-1P Signaling ⁶⁴	11.81	RRAS2 RASA1 ARAF
18	Ras signaling ⁷⁴	11.62	SYNGAP1 SOS2 RRAS2 RASA2 RASA1
19	Vemurafenib Pathway, Pharmacodynamics ⁶⁰	11.24	SOS2 ARAF
20	G-protein signaling TC21 regulation pathway ²² Show member pathways G-protein signaling M-RAS regulation pathway ²² Negative feedback regulation of MAPK pathway ⁶⁶ Signaling by MAP2K mutants ⁶⁶	11.2	RRAS2 RASA2 RASA1
21	G-protein signaling_H-RAS regulation pathway ²²	11.17	SOS2 RASA1
22	G-protein signaling_K-RAS regulation pathway ²²	11	SOS2 ARAF
23	Ephrin B reverse signaling ⁶¹	10.75	EFNB2 EPHB4
24	Regulation of Ras family activation ⁶¹ Show member pathways Activation of RAS in B cells ⁶⁶	10.43	SYNGAP1 SOS2 RASA2 RASA1

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GO Terms for Lymphatic Malformation 12

Biological processes related to Lymphatic Malformation 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Ras protein signal transduction	GO:0007265	9.73	SYNGAP1 SOS2 RRAS2
2	blood vessel morphogenesis	GO:0048514	9.67	RASA1 EFNB2
3	cell migration involved in sprouting angiogenesis	GO:0002042	9.62	EPHB4 EFNB2
4	regulation of GTPase activity	GO:0043087	9.55	RASA1 RASA2 SYNGAP1
5	ephrin receptor signaling pathway	GO:0048013	9.43	RASA1 EPHB4 EFNB2
6	negative regulation of Ras protein signal transduction	GO:0046580	9.1	SYNGAP1 RASA2 RASA1

Sources

Sources for Lymphatic Malformation 12

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

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LMPHM12 MCID: LYM161 MIFTS: 42	Lymphatic Malformation 12 (LMPHM12) Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lymphatic Malformation 12 (LMPHM12)

Aliases & Classifications for Lymphatic Malformation 12

MalaCards integrated aliases for Lymphatic Malformation 12:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lymphatic Malformation 12

Related Diseases for Lymphatic Malformation 12

Diseases in the Rare Lymphatic Malformation family:

Diseases related to Lymphatic Malformation 12 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Lymphatic Malformation 12:

Symptoms & Phenotypes for Lymphatic Malformation 12

Human phenotypes related to Lymphatic Malformation 12:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Lymphatic Malformation 12 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Lymphatic Malformation 12

Interventional clinical trials:

Genetic Tests for Lymphatic Malformation 12

Anatomical Context for Lymphatic Malformation 12

Organs/tissues related to Lymphatic Malformation 12:

Publications for Lymphatic Malformation 12

Articles related to Lymphatic Malformation 12:

Genes for Lymphatic Malformation 12

Genes related to Lymphatic Malformation 12 (1 elite genes):

Variations for Lymphatic Malformation 12

ClinVar genetic disease variations for Lymphatic Malformation 12:

Expression for Lymphatic Malformation 12

Pathways for Lymphatic Malformation 12

Pathways related to Lymphatic Malformation 12 according to GeneCards Suite gene sharing:

GO Terms for Lymphatic Malformation 12

Biological processes related to Lymphatic Malformation 12 according to GeneCards Suite gene sharing:

Sources for Lymphatic Malformation 12