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.

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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

SOURCES: OMIM ORPHANET

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


Potential gene panels for NUP107 gene

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

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 panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

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 panel

Steroid-Resistant Nephrotic Syndrome and XX Female Gonadal Dysgenesis via NUP107 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NUP107 gene.

More info about this panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

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 panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

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 panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Hereditary kidney disorders - different panels Panel

Germany.

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 panel

KidneySeq - 264 Genes Panel

United States.

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 panel

Nephrotic Syndrome Panel Panel

Finland.

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 panel

SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel

Spain.

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

More info about this panel


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