HSPA9 gene related symptoms and diseases
All the information presented here about the HSPA9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HSPA9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Patent foramen ovale | Uncommon - Between 30% and 50% cases |
| Flat face | Uncommon - Between 30% and 50% cases |
| Highly arched eyebrow | Uncommon - Between 30% and 50% cases |
| Hypodontia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HSPA9 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Vesicoureteral reflux
- Oligohydramnios
- Renal hypoplasia
- Depressed nasal ridge
- Inflammatory abnormality of the skin
- Recurrent urinary tract infections
- Abnormality of the outer ear
- Deep philtrum
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HSPA9 gene
Here you will find a list of rare diseases related to the HSPA9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ANEMIA, SIDEROBLASTIC, 4; SIDBA4
Description
Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015).For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (OMIM ).
Most common symptoms of ANEMIA, SIDEROBLASTIC, 4; SIDBA4
- Anemia
- Anemia of inadequate production
- Sideroblastic anemia
- Refractory anemia with ringed sideroblasts
More info about ANEMIA, SIDEROBLASTIC, 4; SIDBA4
EVEN-PLUS SYNDROME
Alternate names
EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome, epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations
Description
EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).
Most common symptoms of EVEN-PLUS SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
More info about EVEN-PLUS SYNDROME
AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA
Alternate names
AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA Is also known as arsa, congenital sideroblastic anemia
Description
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
More info about AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA
SOURCES: ORPHANET
Search interest in HSPA9
Potential gene panels for HSPA9 gene
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Hereditary Sideroblastic Anemia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hereditary Sideroblastic Anemia that also includes the following genes: SLC19A2 PUS1 TRNT1 GLRX5 YARS2 SLC25A38 ALAS2 ABCB7 HSPA9
More info about this panel Estonia.
NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38
More info about this panel Spain.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
HSPA9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HSPA9 gene.
More info about this panel United States.
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