Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd

Description

HFASD 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).

Clinical Features

Top most frequent phenotypes and symptoms related to Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia
  • Ascites
  • Congenital diaphragmatic hernia
  • Lymphedema
  • Hydrops fetalis
  • Pericardial effusion

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hydrops Fetalis, Nonimmune, And/or Atrial Septal Defect, Susceptibility To; Hfasd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary lymphedema and Hydrops fetalis.

By Center for Human Genetics Cliniques Universitaires Saint Luc (Belgium).

SOS1, SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, EPHB4, FLT4, FOXC2, GATA2, GJA1, HGF, HRAS, IKBKG, ITGA9, KIF11, KRAS, NRAS, PTPN11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN).

By Center for Human Genetics Cliniques Universitaires Saint Luc (Belgium).

STAMBP, EPHB4, PTEN, RASA1
Specificity
25 %
Genes
100 %
EPHB4.

By Fulgent Genetics Fulgent Genetics (United States).

EPHB4
Specificity
100 %
Genes
100 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

RHEB, ROS1, BRAF, ARID1A, KDM5C, SMO, TP53, TSC1, TSC2, VHL, SETD2, PBRM1, EGFR, EPHB4, ERBB2, FGFR1, FLT3, AKT1, AKT2, MTOR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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