KRIT1 gene related symptoms and diseases

All the information presented here about the KRIT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRIT1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hemangioma Very Common - Between 80% and 100% cases
Cerebral hemorrhage Very Common - Between 80% and 100% cases
Venous malformation Very Common - Between 80% and 100% cases
Headache Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KRIT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Retrobulbar optic neuritis
  • Retinal vascular malformation
  • Varicocele
  • Neuritis
  • Cavernous hemangioma
  • Stroke
  • Capillary hemangioma
  • Abnormality of the musculature

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KRIT1 gene

Here you will find a list of rare diseases related to the KRIT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL CEREBRAL CAVERNOUS MALFORMATION


Alternate names

FAMILIAL CEREBRAL CAVERNOUS MALFORMATION Is also known as familial brain cavernous hemangioma, familial brain cavernous angioma, hereditary cerebral cavernoma, hereditary brain cavernous angioma, hereditary cerebral cavernous malformation, familial cerebral cavernoma, hereditary brain cavernous hemangioma

Description

Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.

Most common symptoms of FAMILIAL CEREBRAL CAVERNOUS MALFORMATION

  • Seizures
  • Scoliosis
  • Cognitive impairment
  • Headache
  • Hemangioma


More info about FAMILIAL CEREBRAL CAVERNOUS MALFORMATION

SOURCES: ORPHANET

CEREBRAL CAVERNOUS MALFORMATIONS; CCM


Alternate names

CEREBRAL CAVERNOUS MALFORMATIONS; CCM Is also known as cam, cerebral capillary malformations, cavernous angiomatous malformations, cavernous angioma, familial

Description

Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.

Most common symptoms of CEREBRAL CAVERNOUS MALFORMATIONS; CCM

  • Seizures
  • Muscle weakness
  • Hepatomegaly
  • Congestive heart failure
  • Headache


More info about CEREBRAL CAVERNOUS MALFORMATIONS; CCM

SOURCES: ORPHANET OMIM


Potential gene panels for KRIT1 gene

KRIT1 (CCM1) Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the KRIT1 gene.

More info about this panel

Complete CCM Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Complete CCM Sequencing and CNV Evaluation that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

NGS Vascular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1

More info about this panel

familial cerebral carvernous malformations (CCM) Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen familial cerebral carvernous malformations (CCM) that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3

More info about this panel

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2

More info about this panel

CCM2, KRIT1, PDCD10. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica CCM2, KRIT1, PDCD10. MLPA testing that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

KRIT1. Detection of the mutation c.1363C>T by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRIT1 gene.

More info about this panel

KRIT1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRIT1 gene.

More info about this panel

CCM2, KRIT1, PDCD10. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica CCM2, KRIT1, PDCD10. NextGeneDx. Complete sequencing by NGS that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral Cavernous Malformation, Familial (c.1363C>T mutation on KRIT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Familial Cerebral Cavernous Malformation 1 (sequence analysis of KRIT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Cerebral cavernous malformations type 1 (deletion/duplication analysis of KRIT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Cerebral cavernous malformations (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Cerebral cavernous malformations (NGS panel for 3 genes) that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral Cavernous Malformations Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cerebral Cavernous Malformations Sequencing Panel with CNV Detection that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10 Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KRIT1 gene.

More info about this panel

Cerebral Cavernous Malformations via KRIT1/CCM1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KRIT1 gene.

More info about this panel

Cerebral cavernous malformations Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cerebral cavernous malformations Comprehensive panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous malformations Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cerebral cavernous malformations Deletion / Duplication panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous malformations NGS panel Panel

United States.

By Connective Tissue Gene Tests Cerebral cavernous malformations NGS panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Vascular malformations Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Vascular malformations NGS panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Vascular malformations Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Cerebral Cavernous Malformation Panel Panel

United States.

By FirmaLab Cerebral Cavernous Malformation Panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous malformations (CCM) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cerebral cavernous malformations (CCM) panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous malformations type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRIT1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Vascular and lymphatic disorders Panel Panel

Germany.

By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1

More info about this panel

Cerebral Cavernous Malformation (KRIT1, CCM2, PDCD10) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Cerebral Cavernous Malformation (KRIT1, CCM2, PDCD10) that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Invitae Cerebral Cavernous Malformations Panel Panel

United States.

By Invitae Invitae Cerebral Cavernous Malformations Panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous familial: Deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cerebral cavernous familial: Deletions-duplications analysis (MLPA) that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous familial: KRIT1 gene mutation analysis (c.1363C>T, dG699, Q698X) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KRIT1 gene.

More info about this panel

Cerebral cavernous familial: KRIT1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KRIT1 gene.

More info about this panel

CEREBRAL CAVERNOUS MALFORMATION, FAMILIAL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CEREBRAL CAVERNOUS MALFORMATION, FAMILIAL that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral Cavernous Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cerebral Cavernous Malformation: Sequencing Panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral Cavernous Malformation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cerebral Cavernous Malformation: Deletion/Duplication Panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral Cavernous Malformations NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cerebral Cavernous Malformations NGS Panel that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

KRIT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Hereditary hemorrhagic telangiectasia (HHT) Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hereditary hemorrhagic telangiectasia (HHT) that also includes the following genes: BMPR2 CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 SMAD4 RASA1

More info about this panel

Cerebral Cavernous Malformation Panel Panel

Finland.

By Blueprint Genetics Cerebral Cavernous Malformation Panel that also includes the following genes: KRIT1 CCM2 PDCD10 RASA1

More info about this panel

Vascular Malformations Panel Panel

Finland.

By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4

More info about this panel

Hereditary cerebral cavernous malformation Panel

Spain.

By Bioarray

This panel specifically test the KRIT1 gene.

More info about this panel

Hereditary cerebral cavernous malformation, panel Panel

Spain.

By Bioarray

This panel specifically test the KRIT1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

FAMILIAL CEREBRAL CAVERNOMA Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL CEREBRAL CAVERNOMA that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Familial Cerebral Cavernous Malformation Type 1, Sequencing KRIT1 (CCM1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Familial Cerebral Cavernous Malformation Type 1, Screening Mutations KRIT1 (CCM1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Familial Cerebral Cavernous Malformation Type 1, Deletions-Duplications (MLPA) KRIT1(CCM1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRIT1 gene.

More info about this panel

Familial Cerebral Cavernous Malformation Types 1,2 and 3, Deletions-Duplications (MLPA) KRIT1, CCM2, PDCD10 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Cerebral Cavernous Malformation Types 1,2 and 3, Deletions-Duplications (MLPA) KRIT1, CCM2, PDCD10 Genes that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Familial Cerebral Cavernous Malformation Types 1,2 and 3, Sequencing CCM1,CCM2,CCM3 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Cerebral Cavernous Malformation Types 1,2 and 3, Sequencing CCM1,CCM2,CCM3 Genes that also includes the following genes: KRIT1 CCM2 PDCD10

More info about this panel

Cerebral cavernous malformations 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the KRIT1 gene.

More info about this panel


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