STAMBP gene related symptoms and diseases
All the information presented here about the STAMBP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STAMBP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Capillary malformation | Very Common - Between 80% and 100% cases |
| Nevus flammeus | Uncommon - Between 30% and 50% cases |
| Oligohydramnios | Uncommon - Between 30% and 50% cases |
| Aggressive behavior | Uncommon - Between 30% and 50% cases |
| Muscular hypotonia of the trunk | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with STAMBP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intellectual disability, moderate
- Small for gestational age
- Severe global developmental delay
- Poor speech
- Short distal phalanx of finger
- Wide nose
- Downturned corners of mouth
- Hypoplasia of the maxilla
And 51 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STAMBP gene
Here you will find a list of rare diseases related to the STAMBP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
Alternate names
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION Is also known as cm-avm
Description
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
Most common symptoms of CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
- Nevus flammeus
- Capillary hemangioma
- Arteriovenous malformation
- Capillary malformation
- Arteriovenous fistula
More info about CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
Alternate names
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome, microcephaly-cutaneous capillary malformation syndrome, mic-cm syndrome
Description
Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
Most common symptoms of MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
Search interest in STAMBP
Potential gene panels for STAMBP gene
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 United States.
Autosomal Recessive Primary Microcephaly Tier 2 panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF
More info about this panel United States.
STAMBP deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the STAMBP gene.
More info about this panel United States.
STAMBP sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the STAMBP gene.
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
STAMBP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the STAMBP gene.
More info about this panel Spain.
Microcephaly-capillary malformation syndrome (sequence analysis of STAMBP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the STAMBP gene.
More info about this panel Portugal.
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Microcephaly-capillary malformation syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the STAMBP gene.
More info about this panel Germany.
RASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
RASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel Germany.
RASopathies Panel Panel
Germany.
By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1
More info about this panel Germany.
Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN) that also includes the following genes: STAMBP EPHB4 PTEN RASA1
More info about this panel Belgium.
STAMBP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STAMBP gene.
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
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 Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Microcephaly-Capillary Malformation Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the STAMBP gene.
More info about this panel Canada.
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