LMPHM7
MCID: LYM150
MIFTS: 34

Lymphatic Malformation 7 (LMPHM7)

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
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Aliases & Classifications for Lymphatic Malformation 7

MalaCards integrated aliases for Lymphatic Malformation 7:

Name: Lymphatic Malformation 7 57 73 28 5
Central Conduction Lymphatic Anomaly 57 73
Lmphm7 57 73
Hfasd 57 73
Hydrops Fetalis, Non-Immune, and/or Atrial Septal Defect 73
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 57
Lymphatic Malformation, Type 7 38
Hydrops Fetalis 71

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


HPO:

30
lymphatic malformation 7:
Onset and clinical course variable expressivity


Classifications:



Summaries for Lymphatic Malformation 7

UniProtKB/Swiss-Prot: 73 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 central conduction lymphatic anomaly, is related to lymphatic malformation 12 and autism spectrum disorder, and has symptoms including edema and peau d'orange. An important gene associated with Lymphatic Malformation 7 is EPHB4 (EPH Receptor B4). The drug Anti-Arrhythmia Agents has been mentioned in the context of this disorder. Affiliated tissues include lung, respiratory system-lung and respiratory system, 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). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (617300) (Updated 08-Dec-2022)

Related Diseases for Lymphatic Malformation 7

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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 30 Occasional (7.5%) HP:0001903
2 atrial septal defect 30 Occasional (7.5%) HP:0001631
3 lymphedema 30 HP:0001004
4 varicose veins 30 HP:0002619
5 respiratory distress 30 HP:0002098
6 abdominal distention 30 HP:0003270
7 pericardial effusion 30 HP:0001698
8 facial edema 30 HP:0000282
9 pulmonary edema 30 HP:0100598
10 nonimmune hydrops fetalis 30 HP:0001790

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
lymphedema
edema

Abdomen External Features:
abdominal distention

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

Prenatal Manifestations:
hydrops fetalis, nonimmune
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

Respiratory:
respiratory distress
chylothoraces
hydrothoraces

Head And Neck Face:
facial edema

Hematology:
anemia (in some patients)

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

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

Clinical features from OMIM®:

617300 (Updated 08-Dec-2022)

UMLS symptoms related to Lymphatic Malformation 7:


edema; peau d'orange

Drugs & Therapeutics for Lymphatic Malformation 7

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Arrhythmia Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Enrolling by invitation NCT02986698 Phase 1
2 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564
3 Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing Recruiting NCT04308603
4 Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops Recruiting NCT03911531
5 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
6 FAST Trial Registry: Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
7 Uncovering the Etiologies of Non-immune Hydrops Fetalis Through Comprehensive Genomic Analyses and Phenotyping Enrolling by invitation NCT05528796
8 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Enrolling by invitation NCT03412760
9 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

Genetic Tests for Lymphatic Malformation 7

Genetic tests related to Lymphatic Malformation 7:

# Genetic test Affiliating Genes
1 Lymphatic Malformation 7 28 EPHB4

Anatomical Context for Lymphatic Malformation 7

Organs/tissues related to Lymphatic Malformation 7:

MalaCards : Lung
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Lymphatic Malformation 7

Articles related to Lymphatic Malformation 7:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. 57 5
29905864 2018
2
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. 57 5
27400125 2016
3
Quality of Life among Mothers of High Functioning Autism Spectrum Disorder (HFASD)Adolescents. 62
35682245 2022
4
A pilot study of combining social skills training and parenting training for children with autism spectrum disorders and their parents in Japan. 62
34023190 2021
5
[Visual fixation patterns during basic facial emotion recognition and its correlation with social impairment among children with high-functioning autism spectrum disorder]. 62
34102822 2021
6
Thalamocortical connectivity is associated with autism symptoms in high-functioning adults with autism and typically developing adults. 62
33536431 2021
7
Evaluation of a parent preference-based outcome measure after intensive communication intervention for children with social (pragmatic) communication disorder and high-functioning autism spectrum disorder. 62
32771922 2020
8
Depression, Anxiety, and Hyperactivity in Youth with HFASD: A Replication and Extension of Symptom Level Differences in Self-Report Versus Parent Report. 62
30357643 2020
9
Building Skills, Confidence, and Wellness: Psychosocial Effects of Soft Skills Training for Young Adults with Autism. 62
30879257 2020
10
Speaking the Same Language? A Preliminary Investigation, Comparing the Language and Communication Skills of Females and Males with High-Functioning Autism. 62
30830491 2020
11
Preschool Peer Social Intervention (PPSI) to Enhance Social Play, Interaction, and Conversation: Study Outcomes. 62
31776882 2020
12
Comprehension of literal statements and similes in Cantonese-speaking children with and without autism spectrum disorders. 62
31284783 2020
13
Psychometric Characteristics of the DANVA-2 in High-Functioning Children with ASD. 62
31267286 2019
14
More than Leisure: Organized Activity Participation and Socio-Emotional Adjustment Among Adolescents with Autism Spectrum Disorder. 62
27141864 2019
15
Brief Report: Examination of Sex-Based Differences in ASD Symptom Severity Among High-Functioning Children with ASD Using the SRS-2. 62
30151783 2019
16
Content Validity of the Parentship Protocol: A Multidimensional Intervention for Parents of Adolescents with High-Functioning Autism Spectrum Disorder. 62
30188233 2019
17
An Investigation of Gelotophobia in Individuals with a Diagnosis of High-Functioning Autism Spectrum Disorder. 62
29971658 2018
18
The relation between emotional intelligence and resilience in at-risk populations. 62
29083944 2018
19
Attention and written expression in school-age, high-functioning children with autism spectrum disorders. 62
27940570 2018
20
Information, Advocacy and Signposting as a Low-Level Support for Adults with High-Functioning Autism Spectrum Disorder: An Example from the UK. 62
29063482 2018
21
Sensitivity to the prototype in children with high-functioning autism spectrum disorder: An example of Bayesian cognitive psychometrics. 62
28290128 2018
22
The Stability of Self-Reported Anxiety in Youth with Autism Versus ADHD or Typical Development. 62
28593597 2017
23
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. 62
29978627 2017
24
The Scope and Nature of Reading Comprehension Impairments in School-Aged Children with Higher-Functioning Autism Spectrum Disorder. 62
28624962 2017
25
Efficacy of an internet-based CBT program for children with comorbid High Functioning Autism Spectrum Disorder and anxiety: A randomised controlled trial. 62
28477505 2017
26
Meta-analysis of neuropsychological measures of executive functioning in children and adolescents with high-functioning autism spectrum disorder. 62
27874266 2017
27
Brief Report: Examination of Correlates of Adaptive Behavior in Children with HFASD using the BASC-2 Parent Rating Scale. 62
28188464 2017
28
A Comprehensive Examination of Reading Heterogeneity in Students with High Functioning Autism: Distinct Reading Profiles and Their Relation to Autism Symptom Severity. 62
28160222 2017
29
Intelligence profiles of Chinese school-aged boys with high-functioning ASD and ADHD. 62
28670123 2017
30
Social Cognition in Children with High-Functioning Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder. Associations with Executive Functions. 62
28690570 2017
31
A Parent-Mediated, Cognitive Behavioral Therapy Group Treatment for Young Children With High-Functioning Autism Spectrum Disorder and Comorbid Anxiety: Development and Case Illustration of the Fun With Feelings Program. 62
32755938 2017
32
Brief Report: Parent-Teacher Discrepancies on the Developmental Social Disorders Scale (BASC-2) in the Assessment of High-Functioning Children with ASD. 62
27401992 2016
33
Resilience and emotional intelligence in children with high-functioning autism spectrum disorder. 62
24960312 2016
34
Using Multitouch Collaboration Technology to Enhance Social Interaction of Children with High-Functioning Autism. 62
26422262 2016
35
A Psychometric Evaluation of the Danish Version of the Theory of Mind Storybook for 8-14 Year-Old Children. 62
27014139 2016
36
A Virtual Joy-Stick Study of Emotional Responses and Social Motivation in Children with Autism Spectrum Disorder. 62
24435405 2015
37
Determinants and challenges in physical activity participation in families with children with high functioning autism spectrum disorders from a family systems perspective. 62
26368652 2015
38
Sleep Patterns in Adults with a Diagnosis of High-Functioning Autism Spectrum Disorder. 62
26237770 2015
39
Irritability in boys with autism spectrum disorders: an investigation of physiological reactivity. 62
25626926 2015
40
Improving the Social Skills of Children with HFASD: An Intervention Study. 62
25956127 2015
41
Summer Treatment Program Improves Behavior of Children with High-Functioning Autism Spectrum Disorder. 62
25503679 2015
42
Impact of Psychiatric Information on Potential Jurors in Evaluating High-Functioning Autism Spectrum Disorder (hfASD). 62
26843900 2015
43
Randomized Controlled Trial of Mind Reading and In Vivo Rehearsal for High-Functioning Children with ASD. 62
25643864 2015
44
Increasing adaptive behavior skill deficits from childhood to adolescence in autism spectrum disorder: role of executive function. 62
25398602 2015
45
Self-report and caregiver-report of sleep and psychopathology in children with high-functioning autism spectrum disorder: A pilot study. 62
24087935 2015
46
Risk Factors for Depression in Children and Adolescents with High Functioning Autism Spectrum Disorders. 62
26413564 2015
47
Work performance evaluation and QoL of adults with High Functioning Autism Spectrum Disorders (HFASD). 62
25735411 2015
48
The Effectiveness of Theory of Mind Training On the Social Skills of Children with High Functioning Autism Spectrum Disorders. 62
26401152 2015
49
Facial emotion recognition in paranoid schizophrenia and autism spectrum disorder. 62
25278104 2014
50
Schematic and realistic biological motion identification in children with high-functioning autism spectrum disorder. 62
25395988 2014

Variations for Lymphatic Malformation 7

ClinVar genetic disease variations for Lymphatic Malformation 7:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPHB4 NM_004444.5(EPHB4):c.2345T>G (p.Ile782Ser) SNV Pathogenic
374837 rs1057519264 GRCh37: 7:100404181-100404181
GRCh38: 7:100806559-100806559
2 EPHB4 NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln) SNV Pathogenic
374836 rs1057519263 GRCh37: 7:100405105-100405105
GRCh38: 7:100807483-100807483
3 EPHB4 NM_004444.5(EPHB4):c.2334+1G>C SNV Pathogenic
599047 rs1562967463 GRCh37: 7:100404986-100404986
GRCh38: 7:100807364-100807364
4 EPHB4 NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs) MICROSAT Likely Pathogenic
692019 rs1584651110 GRCh37: 7:100401186-100401187
GRCh38: 7:100803564-100803565
5 EPHB4 NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) SNV Uncertain Significance
691534 rs1584653005 GRCh37: 7:100403234-100403234
GRCh38: 7:100805612-100805612
6 EPHB4 NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) SNV Uncertain Significance
1344631 GRCh37: 7:100414876-100414876
GRCh38: 7:100817254-100817254
7 EPHB4 NM_004444.5(EPHB4):c.1890C>T (p.Cys630=) SNV Benign
811000 rs2230585 GRCh37: 7:100410597-100410597
GRCh38: 7:100812975-100812975
8 EPHB4, SLC12A9 NM_004444.5(EPHB4):c.52+14C>G SNV Benign
811002 rs2304374 GRCh37: 7:100424587-100424587
GRCh38: 7:100826965-100826965
9 EPHB4 NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) SNV Benign
811643 rs144173 GRCh37: 7:100416250-100416250
GRCh38: 7:100818628-100818628
10 EPHB4 NM_004444.5(EPHB4):c.1752A>G (p.Gly584=) SNV Benign
811646 rs314359 GRCh37: 7:100411278-100411278
GRCh38: 7:100813656-100813656
11 EPHB4 NM_004444.5(EPHB4):c.1422+3A>G SNV Benign
811649 rs3857809 GRCh37: 7:100416139-100416139
GRCh38: 7:100818517-100818517

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

73
# Symbol AA change Variation ID SNP ID
1 EPHB4 p.Arg739Gln VAR_078063 rs1057519263
2 EPHB4 p.Ile782Ser VAR_078064 rs1057519264

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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