LMPHM7
MCID: LYM150
MIFTS: 40

Lymphatic Malformation 7 (LMPHM7)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Lymphatic Malformation 7

MalaCards integrated aliases for Lymphatic Malformation 7:

Name: Lymphatic Malformation 7 57 74
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect, Susceptibility to 29 6
Central Conduction Lymphatic Anomaly 57 74
Lmphm7 57 74
Hfasd 57 74
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect; Hfasd 57
Hydrops Fetalis, Non-Immune, and/or Atrial Septal Defect 74
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 57
Hydrops Fetalis 44

Characteristics:

OMIM:

57
Miscellaneous:
variable expressivity
variable severity
variability in age of onset (prenatal to adolescence)
onset of hydrops fetalis in utero
hydrops fetalis is associated with high morbidity and mortality in the neonatal period
hydrops resolves spontaneously with time after the neonatal period

Inheritance:
autosomal dominant


HPO:

32
lymphatic malformation 7:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

MeSH 44 D015160

Summaries for Lymphatic Malformation 7

UniProtKB/Swiss-Prot : 74 Lymphatic malformation 7: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.

MalaCards based summary : Lymphatic Malformation 7, also known as hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to, is related to hydrops fetalis, nonimmune and hydrops fetalis. An important gene associated with Lymphatic Malformation 7 is EPHB4 (EPH Receptor B4). The drugs Ibuprofen and Darbepoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and t cells, and related phenotypes are anemia and atrial septal defect

OMIM : 57 LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). (617300)

Related Diseases for Lymphatic Malformation 7

Diseases in the Lymphatic Malformations family:

Lymphatic Malformation 1 Lymphatic Malformation 5
Lymphatic Malformation 2 Lymphatic Malformation 3
Lymphatic Malformation 4 Lymphatic Malformation 6
Lymphatic Malformation 7 Rare Lymphatic Malformation

Diseases related to Lymphatic Malformation 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 425)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis, nonimmune 13.2
2 hydrops fetalis 13.2
3 immune hydrops fetalis 12.8
4 hydrops fetalis, nonimmune, with gracile bones and dysmorphism 12.6
5 obsolete: idiopathic hydrops fetalis 12.5
6 fetal edema 12.1
7 mucopolysaccharidosis, type vii 12.0
8 alpha-thalassemia 11.9
9 congenital disorder of glycosylation, type ia 11.8
10 hemoglobin h disease 11.8
11 lymphatic malformation 6 11.8
12 transaldolase deficiency 11.8
13 teratoma 11.7
14 gaucher's disease 11.7
15 galactosialidosis 11.7
16 congenital dyserythropoietic anemia 11.7
17 glycoproteinosis 11.7
18 hennekam syndrome 11.7
19 multiple pterygium syndrome, escobar variant 11.7
20 lymphangiectasia, pulmonary, congenital 11.7
21 pyruvate kinase deficiency of red cells 11.7
22 gaucher disease, perinatal lethal 11.7
23 arterial calcification of infancy 11.7
24 achondrogenesis 11.7
25 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.7
26 short-rib thoracic dysplasia 12 11.7
27 free sialic acid storage disorders 11.7
28 glucose phosphate isomerase deficiency 11.7
29 achondrogenesis, type ii 11.5
30 chondrodysplasia, blomstrand type 11.5
31 greenberg dysplasia 11.5
32 hypochondrogenesis 11.5
33 porphyria, congenital erythropoietic 11.3
34 pyknoachondrogenesis 11.3
35 retinohepatoendocrinologic syndrome 11.3
36 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
37 congenital disorder of glycosylation, type ih 11.3
38 fetal erythroblastosis 11.3
39 fetal parvovirus syndrome 11.3
40 dyserythropoietic anemia and thrombocytopenia 11.3
41 thalassemia 10.9
42 polyhydramnios 10.8
43 autism spectrum disorder 10.7
44 deficiency anemia 10.7
45 cystic lymphangioma 10.7
46 down syndrome 10.6
47 congestive heart failure 10.6
48 chorioangioma 10.6
49 chromosomal triplication 10.6
50 hydrops, lactic acidosis, and sideroblastic anemia 10.6

Graphical network of the top 20 diseases related to Lymphatic Malformation 7:



Diseases related to Lymphatic Malformation 7

Symptoms & Phenotypes for Lymphatic Malformation 7

Human phenotypes related to Lymphatic Malformation 7:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 anemia 32 occasional (7.5%) HP:0001903
2 atrial septal defect 32 occasional (7.5%) HP:0001631
3 respiratory distress 32 HP:0002098
4 lymphedema 32 HP:0001004
5 varicose veins 32 HP:0002619
6 abdominal distention 32 HP:0003270
7 pericardial effusion 32 HP:0001698
8 pulmonary edema 32 HP:0100598
9 facial edema 32 HP:0000282
10 nonimmune hydrops fetalis 32 HP:0001790

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
edema
lymphedema

Abdomen External Features:
abdominal distention

Head And Neck Face:
facial edema

Cardiovascular Heart:
pericardial effusions
atrial septal defect (in some patients)

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis, nonimmune

Cardiovascular Vascular:
prominent veins in lower limbs
varicose veins (in older patients)
venous stasis
superficial clots in lower limbs

Abdomen:
retrograde flow of contrast in lymphatics into retroperitoneum and abdomen
proliferation of lymphatic channels in retroperitoneum
retroperitoneal masses

Skeletal Spine:
proliferation of lymphatic channels around the spine

Respiratory:
respiratory distress
chylothoraces
hydrothoraces

Respiratory Lung:
pulmonary edema
pleural effusions
abnormal large lymphatic structures seen on lung biopsy
abnormal retrograde pulmonary lymphatic perfusion of right lung seen on magnetic resonance lymphangiography
proliferation of lymphatic channels in the lungs

Hematology:
anemia (in some patients)

Prenatal Manifestations:
nuchal translucency

Head And Neck Neck:
retrograde flow of contrast in lymphatics into neck

Chest:
retrograde flow of contrast in lymphatics into mediastinum
dilated and tortuous thoracic duct
lymphatic valves appear absent or dysfunctional

Abdomen Gastrointestinal:
diarrhea with fat-rich foods (in some patients)

Skin Nails Hair Skin Histology:
markedly increased dermal vascular structures

Clinical features from OMIM:

617300

Drugs & Therapeutics for Lymphatic Malformation 7

Drugs for Lymphatic Malformation 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
2
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
3 Analgesics Phase 2, Phase 3
4 Analgesics, Non-Narcotic Phase 2, Phase 3
5 Cyclooxygenase Inhibitors Phase 2, Phase 3
6 Peripheral Nervous System Agents Phase 2, Phase 3
7 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
8 Anti-Inflammatory Agents Phase 2, Phase 3
9 Antirheumatic Agents Phase 2, Phase 3
10 Hematinics Phase 2, Phase 3
11
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
12 Hormones Phase 1
13 Calcium, Dietary Phase 1
14 Bone Density Conservation Agents Phase 1
15
Ferrous fumarate Approved 141-01-5
16
Imidacloprid Vet_approved 105827-78-9 86418
17 interferons
18 Interferon-gamma
19 Anti-Arrhythmia Agents
20 Nutrients
21 Micronutrients
22 Trace Elements

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 High-dose Ibuprofen for Patent Ductus Arteriosus in Extremely Preterm Infants: a Randomized Controlled Study Completed NCT01243996 Phase 2, Phase 3 Ibuprofen
2 Randomized Controlled Trial on the Use of EPO to Reduce Top-up Transfusions in Neonates With Red Blood Cell Alloimmunization Treated With Intrauterine Transfusions Recruiting NCT03104426 Phase 2, Phase 3 Darbepoetin Alfa
3 Prevention of Myopia of Prematurity by Calcium Supplementation in a Randomized Controlled Pilot Trial Completed NCT00892476 Phase 1
4 A Single-Center, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fetuses With Alpha Thalassemia Major Recruiting NCT02986698 Phase 1
5 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564
6 Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity? Unknown status NCT01274208
7 Estimation of Umbilical Venous Catheter Insertion Depth in Newborns Using Weight or Body Measurement: A Randomized Trial Completed NCT02939690
8 Efficacy of a Comprehensive School-based Intervention for High-functioning Children With Autism Spectrum Disorder Completed NCT03338530
9 Identification of Early Predictors of Fetomaternal Hemorrhage And Development Of An Automated Screening Strategy For At-Risk Pregnancies Completed NCT01232387
10 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Recruiting NCT03412760
11 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops Recruiting NCT03911531
12 FAST Trial Registry: Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
13 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
14 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
15 Efficacy of a Multi-dimensional Program for Parents of Adolescents With High-functioning Autism Active, not recruiting NCT03361787
16 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by Nonimmune Hydrops and Severe Symmetrical Intrauterine Growth Restriction-A Multicenter Prospective Pilot Cohort Study Terminated NCT00143039

Search NIH Clinical Center for Lymphatic Malformation 7

Cochrane evidence based reviews: hydrops fetalis

Genetic Tests for Lymphatic Malformation 7

Genetic tests related to Lymphatic Malformation 7:

# Genetic test Affiliating Genes
1 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect, Susceptibility to 29 EPHB4

Anatomical Context for Lymphatic Malformation 7

MalaCards organs/tissues related to Lymphatic Malformation 7:

41
Lung, Bone, T Cells, Testes

Publications for Lymphatic Malformation 7

Articles related to Lymphatic Malformation 7:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 8 71
29905864 2018
2
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 8 71
27400125 2016
3
More than Leisure: Organized Activity Participation and Socio-Emotional Adjustment Among Adolescents with Autism Spectrum Disorder. 38
27141864 2019
4
Comprehension of literal statements and similes in Cantonese-speaking children with and without autism spectrum disorders. 38
31284783 2019
5
Psychometric Characteristics of the DANVA-2 in High-Functioning Children with ASD. 38
31267286 2019
6
Building Skills, Confidence, and Wellness: Psychosocial Effects of Soft Skills Training for Young Adults with Autism. 38
30879257 2019
7
Speaking the Same Language? A Preliminary Investigation, Comparing the Language and Communication Skills of Females and Males with High-Functioning Autism. 38
30830491 2019
8
Brief Report: Examination of Sex-Based Differences in ASD Symptom Severity Among High-Functioning Children with ASD Using the SRS-2. 38
30151783 2019
9
Content Validity of the Parentship Protocol: A Multidimensional Intervention for Parents of Adolescents with High-Functioning Autism Spectrum Disorder. 38
30188233 2019
10
An Investigation of Gelotophobia in Individuals with a Diagnosis of High-Functioning Autism Spectrum Disorder. 38
29971658 2018
11
Depression, Anxiety, and Hyperactivity in Youth with HFASD: A Replication and Extension of Symptom Level Differences in Self-Report Versus Parent Report. 38
30357643 2018
12
The relation between emotional intelligence and resilience in at-risk populations. 38
29083944 2018
13
Attention and written expression in school-age, high-functioning children with autism spectrum disorders. 38
27940570 2018
14
Sensitivity to the prototype in children with high-functioning autism spectrum disorder: An example of Bayesian cognitive psychometrics. 38
28290128 2018
15
Information, Advocacy and Signposting as a Low-Level Support for Adults with High-Functioning Autism Spectrum Disorder: An Example from the UK. 38
29063482 2018
16
The Stability of Self-Reported Anxiety in Youth with Autism Versus ADHD or Typical Development. 38
28593597 2017
17
Jurors' and Judges' Evaluation of Defendants with Autism and the Impact on Sentencing: A Systematic Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) Review of Autism Spectrum Disorder in the Courtroom. 38
29978627 2017
18
The Scope and Nature of Reading Comprehension Impairments in School-Aged Children with Higher-Functioning Autism Spectrum Disorder. 38
28624962 2017
19
Efficacy of an internet-based CBT program for children with comorbid High Functioning Autism Spectrum Disorder and anxiety: A randomised controlled trial. 38
28477505 2017
20
Meta-analysis of neuropsychological measures of executive functioning in children and adolescents with high-functioning autism spectrum disorder. 38
27874266 2017
21
Brief Report: Examination of Correlates of Adaptive Behavior in Children with HFASD using the BASC-2 Parent Rating Scale. 38
28188464 2017
22
A Comprehensive Examination of Reading Heterogeneity in Students with High Functioning Autism: Distinct Reading Profiles and Their Relation to Autism Symptom Severity. 38
28160222 2017
23
Intelligence profiles of Chinese school-aged boys with high-functioning ASD and ADHD. 38
28670123 2017
24
Social Cognition in Children with High-Functioning Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder. Associations with Executive Functions. 38
28690570 2017
25
Brief Report: Parent-Teacher Discrepancies on the Developmental Social Disorders Scale (BASC-2) in the Assessment of High-Functioning Children with ASD. 38
27401992 2016
26
Resilience and emotional intelligence in children with high-functioning autism spectrum disorder. 38
24960312 2016
27
Using Multitouch Collaboration Technology to Enhance Social Interaction of Children with High-Functioning Autism. 38
26422262 2016
28
A Psychometric Evaluation of the Danish Version of the Theory of Mind Storybook for 8-14 Year-Old Children. 38
27014139 2016
29
A Virtual Joy-Stick Study of Emotional Responses and Social Motivation in Children with Autism Spectrum Disorder. 38
24435405 2015
30
Determinants and challenges in physical activity participation in families with children with high functioning autism spectrum disorders from a family systems perspective. 38
26368652 2015
31
Sleep Patterns in Adults with a Diagnosis of High-Functioning Autism Spectrum Disorder. 38
26237770 2015
32
Irritability in boys with autism spectrum disorders: an investigation of physiological reactivity. 38
25626926 2015
33
Improving the Social Skills of Children with HFASD: An Intervention Study. 38
25956127 2015
34
Summer Treatment Program Improves Behavior of Children with High-Functioning Autism Spectrum Disorder. 38
25503679 2015
35
Impact of Psychiatric Information on Potential Jurors in Evaluating High-Functioning Autism Spectrum Disorder (hfASD). 38
26843900 2015
36
Randomized Controlled Trial of Mind Reading and In Vivo Rehearsal for High-Functioning Children with ASD. 38
25643864 2015
37
Increasing adaptive behavior skill deficits from childhood to adolescence in autism spectrum disorder: role of executive function. 38
25398602 2015
38
The Effectiveness of Theory of Mind Training On the Social Skills of Children with High Functioning Autism Spectrum Disorders. 38
26401152 2015
39
Self-report and caregiver-report of sleep and psychopathology in children with high-functioning autism spectrum disorder: A pilot study. 38
24087935 2015
40
Work performance evaluation and QoL of adults with High Functioning Autism Spectrum Disorders (HFASD). 38
25735411 2015
41
Risk Factors for Depression in Children and Adolescents with High Functioning Autism Spectrum Disorders. 38
26413564 2015
42
Facial emotion recognition in paranoid schizophrenia and autism spectrum disorder. 38
25278104 2014
43
Schematic and realistic biological motion identification in children with high-functioning autism spectrum disorder. 38
25395988 2014
44
The role of insomnia, pre-sleep arousal and psychopathology symptoms in daytime impairment in adolescents with high-functioning autism spectrum disorder. 38
24974199 2014
45
Young friendship in HFASD and typical development: friend versus non-friend comparisons. 38
24488120 2014
46
Spontaneous peer conversation in preschoolers with high-functioning autism spectrum disorder versus typical development. 38
24304222 2014
47
Pilot study: efficacy of sensory integration therapy for Japanese children with high-functioning autism spectrum disorder. 38
23893373 2014
48
Coping, daily hassles and behavior and emotional problems in adolescents with high-functioning autism/Asperger's Disorder. 38
23933998 2014
49
Feasibility and validity of ecological momentary assessment in adolescents with high-functioning autism and Asperger's disorder. 38
24331303 2014
50
Judiciary views on criminal behaviour and intention of offenders with high-functioning autism. 38
25866642 2014

Variations for Lymphatic Malformation 7

ClinVar genetic disease variations for Lymphatic Malformation 7:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EPHB4 NM_004444.5(EPHB4): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs1057519263 7:100405105-100405105 7:100807483-100807483
2 EPHB4 NM_004444.5(EPHB4): c.2345T> G (p.Ile782Ser) single nucleotide variant Pathogenic rs1057519264 7:100404181-100404181 7:100806559-100806559
3 EPHB4 NM_004444.5(EPHB4): c.2334+1G> C single nucleotide variant Pathogenic 7:100404986-100404986 7:100807364-100807364

UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 7:

74
# Symbol AA change Variation ID SNP ID
1 EPHB4 p.Arg739Gln VAR_078063 rs105751926
2 EPHB4 p.Ile782Ser VAR_078064 rs105751926

Expression for Lymphatic Malformation 7

Search GEO for disease gene expression data for Lymphatic Malformation 7.

Pathways for Lymphatic Malformation 7

GO Terms for Lymphatic Malformation 7

Sources for Lymphatic Malformation 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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