DISP1 gene related symptoms and diseases
All the information presented here about the DISP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DISP1 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Rare - less than 30% cases |
Leiomyosarcoma | Rare - less than 30% cases |
Hypermelanotic macule | Rare - less than 30% cases |
Neurofibromas | Rare - less than 30% cases |
Irregular hyperpigmentation | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with DISP1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Lipoma
- Paraganglioma
- Schwannoma
- Gastrointestinal stroma tumor
- Soft tissue sarcoma
- Intestinal obstruction
- Mastocytosis
- Neoplasm of the small intestine
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DISP1 gene
Here you will find a list of rare diseases related to the DISP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
SEMILOBAR HOLOPROSENCEPHALY
Description
Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
More info about SEMILOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
SEPTOPREOPTIC HOLOPROSENCEPHALY
Alternate names
SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe
Description
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.
More info about SEPTOPREOPTIC HOLOPROSENCEPHALY
SOURCES: ORPHANET
LOBAR HOLOPROSENCEPHALY
Description
Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
More info about LOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
ALOBAR HOLOPROSENCEPHALY
Description
Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.
More info about ALOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY
Alternate names
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant
Description
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY
SOURCES: ORPHANET
Search interest in DISP1
Potential gene panels for DISP1 gene
Comprehensive Brain Malformation Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panelHoloprosencephaly Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panelHoloprosencephaly Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panelHoloprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panelDISP1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DISP1 gene.
More info about this panelHoloprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panelMicroform Holoprosencephaly (HPE10) via DISP1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DISP1 gene.
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelHoloprosencephaly Panel
By MGZ Medical Genetics Center Holoprosencephaly that also includes the following genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelqGenEx Craniofacial Anomalies Panel
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panelNeurology: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panelDISP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DISP1 gene.
More info about this panelHoloprosencephaly type 10 Panel
By Bioarray
This panel specifically test the DISP1 gene.
More info about this panelHoloprosencephaly: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
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