Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency

Description

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Hypertension
  • Hepatomegaly
  • Splenomegaly
  • Bone marrow hypocellularity
  • Absence seizures
  • Venous thrombosis
  • Portal hypertension

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Is also known as pigm-cdg, congenital disorder of glycosylation due to pigm deficiency, glycosylphosphatidylinositol biosynthesis defect 1, gpibd1.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RPN2, SEC23B, ST3GAL3, ST3GAL5, SLC35A1, COG5, ALG9, CHSY1, NGLY1, FKRP, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, PIGM, POMGNT1, ALG12, CHST3 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RPN2, SEC23B, ST3GAL3, ST3GAL5, SLC35A1, COG5, ALG9, CHSY1, NGLY1, FKRP, ATP6V0A2, COG4, COG6, COG7, COG8, PIGM, POMGNT1, ALG12, CHST3, POMT2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
PIGM.

By Fulgent Genetics Fulgent Genetics (United States).

PIGM
Specificity
100 %
Genes
50 %
PIGW.

By Fulgent Genetics Fulgent Genetics (United States).

PIGW
Specificity
100 %
Genes
50 %

We have -4 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OVARIAN DYSGENESIS 2; ODG2 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 OROFACIODIGITAL SYNDROME IV; OFD4 MELORHEOSTOSIS WITH OSTEOPOIKILOSIS ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more