HFASD
MCID: LYM150
MIFTS: 40

Lymphatic Malformation 7 (HFASD)

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

Aliases & Classifications for Lymphatic Malformation 7

MalaCards integrated aliases for Lymphatic Malformation 7:

Name: Lymphatic Malformation 7 58
Hfasd 58 76
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect, Susceptibility to 6
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect; Hfasd 58
Hydrops Fetalis, Non-Immune, and/or Atrial Septal Defect 76
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 58
Central Conduction Lymphatic Anomaly 58
Hydrops Fetalis 45
Lmphm7 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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:

33
lymphatic malformation 7:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lymphatic Malformation 7

UniProtKB/Swiss-Prot : 76 Hydrops fetalis, non-immune, and/or atrial septal defect: A form of non-immune hydrops fetalis, a condition characterized by fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are non-immune conditions that present with generalized edema of the fetus. Approximately 15% of non- immune cases result from a lymphatic abnormality. HFASD is an autosomal dominant, lymphatic-related form with variable expressivity. Some patients suffer from severe manifestations that can result in early death, whereas others have milder clinical features, such as atrial septal defect or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period.

MalaCards based summary : Lymphatic Malformation 7, also known as hfasd, is related to hydrops fetalis and hydrops fetalis, nonimmune. An important gene associated with Lymphatic Malformation 7 is EPHB4 (EPH Receptor B4). Affiliated tissues include lung, heart and placenta, and related phenotypes are anemia and atrial septal defect

OMIM : 58 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

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

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis 13.0
2 hydrops fetalis, nonimmune 13.0
3 immune hydrops fetalis 12.7
4 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 12.3
5 hydrops fetalis anemia immune disorder absent thumb 12.3
6 fetal edema 12.0
7 mucopolysaccharidosis, type vii 11.8
8 hemoglobin h disease 11.7
9 alpha-thalassemia 11.6
10 teratoma 11.6
11 pyruvate kinase deficiency of red cells 11.6
12 gaucher disease, perinatal lethal 11.6
13 transaldolase deficiency 11.6
14 achondrogenesis, type ii 11.4
15 chondrodysplasia, blomstrand type 11.4
16 lymphatic malformation 6 11.4
17 semmekrot haraldsson weemaes syndrome 11.3
18 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
19 greenberg dysplasia 11.2
20 porphyria, congenital erythropoietic 11.2
21 pyknoachondrogenesis 11.2
22 retinohepatoendocrinologic syndrome 11.2
23 short-rib thoracic dysplasia 12 11.2
24 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
25 hypochondrogenesis 11.2
26 fetal erythroblastosis 11.2
27 fetal parvovirus syndrome 11.2
28 glucosephosphate isomerase deficiency 11.2
29 thalassemia 10.7
30 chorioangioma 10.5
31 down syndrome 10.4
32 cystic lymphangioma 10.4
33 atrial standstill 1 10.4
34 polyhydramnios 10.3
35 pulmonary sequestration 10.3
36 lymphangiectasia, pulmonary, congenital 10.3
37 chylothorax, congenital 10.3
38 diamond-blackfan anemia 10.3
39 hemophagocytic lymphohistiocytosis 10.3
40 lymphedema 10.3
41 thrombosis 10.3
42 gaucher's disease 10.3
43 syphilis 10.3
44 hemangioendothelioma 10.3
45 cytomegalovirus infection 10.3
46 autism 10.3
47 neuroblastoma 10.2
48 hemangioma 10.2
49 congenital dyserythropoietic anemia 10.2
50 congenital syphilis 10.2

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 anemia 33 occasional (7.5%) HP:0001903
2 atrial septal defect 33 occasional (7.5%) HP:0001631
3 respiratory distress 33 HP:0002098
4 varicose veins 33 HP:0002619
5 pericardial effusion 33 HP:0001698
6 facial edema 33 HP:0000282
7 pulmonary edema 33 HP:0100598
8 nonimmune hydrops fetalis 33 HP:0001790

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
edema
lymphedema

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

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

Head And Neck Face:
facial edema

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

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 7

Cochrane evidence based reviews: hydrops fetalis

Genetic Tests for Lymphatic Malformation 7

Anatomical Context for Lymphatic Malformation 7

MalaCards organs/tissues related to Lymphatic Malformation 7:

42
Lung, Heart, Placenta, Brain, Testes, Kidney, Bone

Publications for Lymphatic Malformation 7

Articles related to Lymphatic Malformation 7:

(show top 50) (show all 847)
# Title Authors Year
1
Placental chorioangioma associated with polyhydramnios and hydrops fetalis. ( 30700468 )
2019
2
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. ( 30786798 )
2019
3
Trisomy 21 and hydrops fetalis: parvovirus B19 or transient abnormal myelopoiesis? ( 30634881 )
2019
4
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. ( 30690204 )
2019
5
Non-immune hydrops fetalis neonate born to a mother with yellow nail syndrome. ( 30883972 )
2019
6
Outcomes following antenatal identification of hydrops fetalis: a single-centre experience from 2001 to 2012. ( 29769237 )
2018
7
A case of vasculopathy of unknown etiology associated with fatal hydrops fetalis and review of the literature on intimomedial mucoid degeneration. ( 29414431 )
2018
8
Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm. ( 29500832 )
2018
9
Thymic teratoma presenting as non-immune hydrops fetalis. ( 29515979 )
2018
10
Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report: Erratum. ( 29480868 )
2018
11
Nonimmune Hydrops Fetalis: Factors Which Predict Outcome. ( 29895999 )
2018
12
Recurring mutations in <i>RPL15</i> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. ( 29599205 )
2018
13
Iron overload in transfusion-dependent survivors of hemoglobin Bart's hydrops fetalis. ( 29371322 )
2018
14
Characterization of Hb Bart's Hydrops Fetalis Caused by -a88-<sup>SEA</sup> and a Large Novel I+<sup>0</sup>-Thalassemia Deletion. ( 29493331 )
2018
15
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. ( 29654786 )
2018
16
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the <i>GBA</i> Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. ( 29854527 )
2018
17
A case of mirror syndrome caused by hydrops fetalis after fetoscopic laser photocoagulation. ( 29881553 )
2018
18
Sonographic Demonstration of Intracranial Hemorrhage in a Fetus with Hydrops Fetalis due to Rh Alloimmunization after Intrauterine Intravascular Transfusion: A Case Report and Review of the Literature. ( 29780649 )
2018
19
Invasive prenatal diagnosis of I+-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15A years of experience. ( 29948167 )
2018
20
Outcomes and morbidities of patients who survive haemoglobin Bart's hydrops fetalis syndrome: 20-year retrospective review. ( 29632273 )
2018
21
Effect of maternal betamethasone on hydrops fetalis caused by extralobar pulmonary sequestration: a case report. ( 29553854 )
2018
22
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. ( 29476731 )
2018
23
Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia. ( 30504332 )
2018
24
Depression, Anxiety, and Hyperactivity in Youth with HFASD: A Replication and Extension of Symptom Level Differences in Self-Report Versus Parent Report. ( 30357643 )
2018
25
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. ( 30378124 )
2018
26
Placental Chorioangioma with Nonimmune Hydrops Fetalis. ( 30075468 )
2018
27
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family. ( 30055085 )
2018
28
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. ( 30115739 )
2018
29
Hydrops Fetalis And The Parvovirus B-19. ( 30124157 )
2018
30
Peripheral Blood Smear of Bart's Hydrops Fetalis. ( 30127576 )
2018
31
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. ( 30244526 )
2018
32
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. ( 30410095 )
2018
33
A Rare Hb H Hydrops Fetalis Syndrome Caused by the - -SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient. ( 30486690 )
2018
34
Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis. ( 30545550 )
2018
35
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. ( 30564329 )
2018
36
Fetal Thoracoamniotic Shunting in a Case of Congenital Pulmonary Airway Malformations with Hydrops Fetalis. ( 28948063 )
2017
37
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. ( 28174644 )
2017
38
Fetal hemoglobin Bart's hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment. ( 28277912 )
2017
39
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. ( 28822227 )
2017
40
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. ( 28603204 )
2017
41
Genetic origin of I+(0)-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart's hydrops fetalis syndrome. ( 28381876 )
2017
42
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
43
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis. ( 29594000 )
2017
44
Prognostic factors of hydrops fetalis with pleural effusion. ( 28672054 )
2017
45
Pulmonary Neuroendocrine Cell Hyperplasia in Hemoglobin Bart-induced Hydrops Fetalis: A model for Chronic Intrauterine Hypoxia. ( 28727978 )
2017
46
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. ( 28180938 )
2017
47
Fetal Anemia Causing Hydrops Fetalis From an Alpha-Globin Variant: Homozygous Hemoglobin Constant Spring. ( 29240037 )
2017
48
An international registry of survivors with Hb Bart's Hydrops Fetalis Syndrome. ( 28057638 )
2017
49
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter? ( 29076544 )
2017
50
Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report. ( 29390381 )
2017

Variations for Lymphatic Malformation 7

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

76
# Symbol AA change Variation ID SNP ID
1 EPHB4 p.Arg739Gln VAR_078063 rs105751926
2 EPHB4 p.Ile782Ser VAR_078064 rs105751926

ClinVar genetic disease variations for Lymphatic Malformation 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPHB4 NM_004444.4(EPHB4): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs1057519263 GRCh38 Chromosome 7, 100807483: 100807483
2 EPHB4 NM_004444.4(EPHB4): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs1057519263 GRCh37 Chromosome 7, 100405105: 100405105
3 EPHB4 NM_004444.4(EPHB4): c.2345T> G (p.Ile782Ser) single nucleotide variant Pathogenic rs1057519264 GRCh38 Chromosome 7, 100806559: 100806559
4 EPHB4 NM_004444.4(EPHB4): c.2345T> G (p.Ile782Ser) single nucleotide variant Pathogenic rs1057519264 GRCh37 Chromosome 7, 100404181: 100404181
5 EPHB4 NM_004444.5(EPHB4): c.2334+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100807364: 100807364
6 EPHB4 NM_004444.5(EPHB4): c.2334+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100404986: 100404986

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
20 FMA
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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