IDH1 gene related symptoms and diseases

All the information presented here about the IDH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to IDH1 gene

Symptoms // Phenotype	% Cases
Neoplasm	Rare - less than 30% cases
Venous thrombosis	Rare - less than 30% cases
Scoliosis	Rare - less than 30% cases
Short stature	Rare - less than 30% cases
Multiple enchondromatosis	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with IDH1 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Chondrosarcoma
Astrocytoma
Sarcoma
Hemangioma
Neurofibromas
Osteolysis
Anemia
Bone pain

And 64 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IDH1 gene

Here you will find a list of rare diseases related to the IDH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ENCHONDROMATOSIS

Alternate names

ENCHONDROMATOSIS Is also known as dyschondroplasia, ollier disease

Description

Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

Most common symptoms of ENCHONDROMATOSIS

Neoplasm
Anemia
Joint stiffness
Platyspondyly
Micromelia

More info about ENCHONDROMATOSIS

SOURCES: ORPHANET

MAFFUCCI SYNDROME

Alternate names

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Description

Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

Most common symptoms of MAFFUCCI SYNDROME

Short stature
Scoliosis
Growth delay
Anemia
Dysphagia

More info about MAFFUCCI SYNDROME

SOURCES: ORPHANET OMIM

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic

Description

Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

Leukemia
Acute promyelocytic leukemia
Abnormal granulocytopoietic cell morphology

More info about ACUTE PROMYELOCYTIC LEUKEMIA

SOURCES: OMIM ORPHANET MESH

GLIOSARCOMA

More info about GLIOSARCOMA

SOURCES: MESH ORPHANET

GIANT CELL GLIOBLASTOMA

More info about GIANT CELL GLIOBLASTOMA

SOURCES: ORPHANET

GLIOMA SUSCEPTIBILITY 1; GLM1

Description

Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Most common symptoms of GLIOMA SUSCEPTIBILITY 1; GLM1

Neoplasm
Hydrocephalus
Polyhydramnios
Melanoma
Growth abnormality

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

SOURCES: OMIM ORPHANET

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Alternate names

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria, metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria, metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Description

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

Most common symptoms of METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Global developmental delay
Short stature
Scoliosis
Strabismus
Depressed nasal bridge

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

SOURCES: ORPHANET OMIM

Search interest in IDH1

Potential gene panels for IDH1 gene

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

IDH1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to IDH1 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to IDH1 gene

ENCHONDROMATOSIS

Alternate names

Description

Most common symptoms of ENCHONDROMATOSIS

MAFFUCCI SYNDROME

Alternate names

Description

Most common symptoms of MAFFUCCI SYNDROME

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

GLIOSARCOMA

GIANT CELL GLIOBLASTOMA

GLIOMA SUSCEPTIBILITY 1; GLM1

Description

Most common symptoms of GLIOMA SUSCEPTIBILITY 1; GLM1

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Alternate names

Description

Most common symptoms of METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Search interest in IDH1

Potential gene panels for IDH1 gene

MyeloidDx by NGS Panel

MyeloidDx by NGS Panel

Acute myeloid leukemia (AML, sequence analysis of exon 4 of IDH1 gene) Panel

Glioma (sequence analysis of exon 4 of IDH1 gene) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Glioma (methilation analysis of MGMT gene promoter and frequent mutations on IDH1 e IDH2 genes) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Glioma (methilation analysis of MGMT gene promoter and frequent mutations on IDH1 e IDH2 genes) Panel

IDH1 and IDH2 , targeted mutation testing Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Myeloid Tumor Panel Panel

Cancer Hotspot Panel Panel

Solid Tumor Panel Panel

Glioma, susceptibility to, somatic Panel

IDH1, selective sequencing of exon 4 Panel

Nuclear encoded Mitochondriopathies Panel Panel

IDH1 and IDH2 Exon 4 Mutation Detection Panel

IDH1 Exon 4 Mutation Detection Panel

NGS HemeOnc Panel Panel

AML post-FLT3 Comprehensive Mutation Panel Panel

TCA Cycle NGS Panel Panel

Nuclear-Mito NGS Panel Panel

IDH1 Panel

Onco microarray for MDS/AML Panel

IDH1 and IDH2 Mutations by Sanger Sequencing Panel

Focus::Myeloid™ NGS Panel Panel

Focus::Myeloid™ NGS Panel Panel

Focus::MDS™ NGS Panel Panel

Focus::MPN™ NGS Panel Panel

Focus::AML™ NGS Panel Panel

Focus::Oncomine™ NGS Panel Panel

Somatic Overgrowth Gene Set Panel

Solid Tumor Gene Set Panel

Hematopoietic Disorders Gene Set Panel

CNS Tumor Gene Set Panel

Maffucci syndrome Gene Set Panel

Breast Tumors Gene Set Panel

FoundationOne® Heme Panel

Guardant360 Panel

Comprehensive Panel for Individualized Cancer Threatment Panel

Cancer Hotspot Analysis Panel

Circulo Hematological Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

OmniSeq Comprehensive Panel

MULTIPLE ENCHONDROMATOSIS (OLLIER SYNDROME) Panel

Solid Tumor Targeted Mutation and Fusion Panel Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Myeloid AML Targeted Panel?, Sequencing Panel

Glioma, Sequencing IDH1 Gene Panel

Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes Panel

Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes Panel