GLI1 gene related symptoms and diseases

All the information presented here about the GLI1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GLI1 gene

Symptoms // Phenotype % Cases
Nail dysplasia Uncommon - Between 30% and 50% cases
Genu valgum Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GLI1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Atrial septal defect
  • Rarely - Less than 30% cases

  • Abnormality of pelvic girdle bone morphology
  • Abnormality of the fingernails
  • Renal hypoplasia/aplasia
  • Short long bone
  • Leukemia
  • Hand polydactyly
  • Abnormality of the nail

And 121 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GLI1 gene

Here you will find a list of rare diseases related to the GLI1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

GASTROINTESTINAL STROMAL TUMOR


Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

ELLIS VAN CREVELD SYNDROME


Alternate names

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia, mesoectodermal dysplasia, chondroectodermal dysplasia

Description

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

Most common symptoms of ELLIS VAN CREVELD SYNDROME

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


More info about ELLIS VAN CREVELD SYNDROME

SOURCES: OMIM ORPHANET

POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8


Description

Postaxial polydactyly type 8A is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017).For a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.

Most common symptoms of POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8

  • Short stature
  • Atrial septal defect
  • Polydactyly
  • Genu valgum
  • Postaxial polydactyly


More info about POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8

SOURCES: OMIM


Potential gene panels for GLI1 gene

Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel Panel

United States.

By FirmaLab Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 GLI1 PTCH1

More info about this panel

GLI1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLI1 gene.

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Prostate cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Prostate cancer: Extended gene sequencing Panel that also includes the following genes: SCN11A SPOP TBX20 MED12 TP53 NIPA2 PDZRN3 CDKN1B CDKN2A KLF6

More info about this panel


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