NUP107 gene related symptoms and diseases
All the information presented here about the NUP107 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NUP107 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypoalbuminemia | Uncommon - Between 30% and 50% cases |
Proteinuria | Uncommon - Between 30% and 50% cases |
Glomerulosclerosis | Uncommon - Between 30% and 50% cases |
Focal segmental glomerulosclerosis | Uncommon - Between 30% and 50% cases |
Arachnodactyly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NUP107 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Primary amenorrhea
- Ataxia
- Nephrotic syndrome
- Short stature
- Microcephaly
Rarely - Less than 30% cases
- Congenital hypothyroidism
- Hemiplegia/hemiparesis
- Diffuse cerebral atrophy
And 155 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NUP107 gene
Here you will find a list of rare diseases related to the NUP107. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GALLOWAY-MOWAT SYNDROME
Alternate names
GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome, spinocerebellar ataxia, autosomal recessive 5, formerly, microcephaly, hiatal hernia, and nephrotic syndrome, scar5, formerly, galloway syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnor
Description
Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.
Most common symptoms of GALLOWAY-MOWAT SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about GALLOWAY-MOWAT SYNDROME
46,XX GONADAL DYSGENESIS
Alternate names
46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis, 46,xx pure gonadal dysgenesis, 46,xx complete gonadal dysgenesis, follicular stimulating hormone-resistant ovaries, hypergonadotropic ovarian dysgenesis, xx-gd, 46,xx ovarian dysgenesis, fsh-ro
Description
46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
Most common symptoms of 46,XX GONADAL DYSGENESIS
- Short stature
- Hearing impairment
- Microcephaly
- Ataxia
- Abnormality of metabolism/homeostasis
More info about 46,XX GONADAL DYSGENESIS
SOURCES: ORPHANET
NEPHROTIC SYNDROME, TYPE 11; NPHS11
Description
Nephrotic syndrome type 11 is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (summary by Miyake et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).
Most common symptoms of NEPHROTIC SYNDROME, TYPE 11; NPHS11
- Proteinuria
- Stage 5 chronic kidney disease
- Nephrotic syndrome
- Hypoalbuminemia
- Glomerulosclerosis
More info about NEPHROTIC SYNDROME, TYPE 11; NPHS11
SOURCES: OMIM
OVARIAN DYSGENESIS 6; ODG6
Description
Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015).
Most common symptoms of OVARIAN DYSGENESIS 6; ODG6
- Amenorrhea
- Primary amenorrhea
- Hypoplasia of the uterus
- Elevated circulating luteinizing hormone level
More info about OVARIAN DYSGENESIS 6; ODG6
SOURCES: OMIM
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
Alternate names
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
SOURCES: ORPHANET
Search interest in NUP107
Potential gene panels for NUP107 gene
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelSteroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via NUP107 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the NUP107 gene.
More info about this panelNephrotic syndrome and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelNephrotic syndrome and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelNephrotic syndrome and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelNephrotic Syndrome Panel Panel
By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelSYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2
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