MAPK1 gene related symptoms and diseases
All the information presented here about the MAPK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MAPK1 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Very Common - Between 80% and 100% cases |
Immunodeficiency | Very Common - Between 80% and 100% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Aortic aneurysm | Common - Between 50% and 80% cases |
High, narrow palate | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MAPK1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Highly arched eyebrow
- Premature birth
- Underdeveloped nasal alae
- Choanal atresia
- Bowing of the long bones
- Recurrent urinary tract infections
- Pointed chin
- Coxa valga
And 110 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MAPK1 gene
Here you will find a list of rare diseases related to the MAPK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DISTAL 22Q11.2 MICRODELETION SYNDROME
Alternate names
DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2), distal monosomy 22q11.2
Description
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.
Most common symptoms of DISTAL 22Q11.2 MICRODELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about DISTAL 22Q11.2 MICRODELETION SYNDROME
SOURCES: ORPHANET
CAYLER CARDIOFACIAL SYNDROME
Alternate names
CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of, facial paresis, partial, unilateral, asymmetric crying facies, acf
Most common symptoms of CAYLER CARDIOFACIAL SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about CAYLER CARDIOFACIAL SYNDROME
SOURCES: OMIM
SÉZARY SYNDROME
Alternate names
SÉZARY SYNDROME Is also known as sÉzary lymphoma
Description
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Most common symptoms of SÉZARY SYNDROME
- Neoplasm
- Abnormal facial shape
- Peripheral neuropathy
- Hepatomegaly
- Fever
More info about SÉZARY SYNDROME
Search interest in MAPK1
Potential gene panels for MAPK1 gene
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelGuardant360 Panel
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panelOmniSeq Comprehensive Panel
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
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 panelTempus xT assay Panel
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 panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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