NLRC4 gene related symptoms and diseases

All the information presented here about the NLRC4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NLRC4 gene

Symptoms // Phenotype % Cases
Arthralgia Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Skin rash Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NLRC4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Myalgia
  • Arthritis
  • Urticaria
  • Not very common - Between 30% and 50% cases

  • Sensorineural hearing impairment
  • Anemia
  • Seizures
  • Intellectual disability
  • Pain

And 126 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NLRC4 gene

Here you will find a list of rare diseases related to the NLRC4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL COLD URTICARIA


Alternate names

FAMILIAL COLD URTICARIA Is also known as fcas, familial cold autoinflammatory syndrome, fcu

Description

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

Most common symptoms of FAMILIAL COLD URTICARIA

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


More info about FAMILIAL COLD URTICARIA

SOURCES: ORPHANET

CINCA SYNDROME


Alternate names

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset, nomid syndrome, iomid syndrome, infantile-onset multisystem inflammatory disease, prieur-griscelli syndrome, neonatal-onset multisystem inflammatory disease, chronic neurologic cutaneous and articular syndrome, c

Description

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

Most common symptoms of CINCA SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


More info about CINCA SYNDROME

SOURCES: OMIM ORPHANET

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4


Most common symptoms of FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4

  • Pain
  • Splenomegaly
  • Arthralgia
  • Skin rash
  • Pruritus


More info about FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4

SOURCES: OMIM

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4


Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Is also known as familial spastic paraplegia, autosomal dominant, 2, spg4, fsp2

Description

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

SOURCES: ORPHANET OMIM MESH

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Alternate names

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome, nlrc4-related infantile enterocolitis-autoinflammatory syndrome, nlrc4-related autoinflammatory syndrome with macrophage activation syndrome, nlrc4-related mas, nlrc4-related autoinflammatory syndrome with mas

Description

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

Most common symptoms of PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for NLRC4 gene

NLRC4 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the NLRC4 gene.

More info about this panel

NLRC4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NLRC4 gene.

More info about this panel

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3

More info about this panel

Single gene testing NLRC4 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NLRC4 gene.

More info about this panel

Invitae Periodic Fever Syndromes Panel Panel

United States.

By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Autoinflammatory Syndromes Panel Panel

United States.

By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2

More info about this panel

Invitae Familial Cold Autoinflammatory Syndrome Panel Panel

United States.

By Invitae Invitae Familial Cold Autoinflammatory Syndrome Panel that also includes the following genes: NLRP3 NLRC4 NLRP12 PLCG2

More info about this panel

Hemophagocytic Lymphohistiocytosis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2

More info about this panel

NLRC4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NLRC4 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Autoinflammatory Syndrome Panel Panel

Finland.

By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4

More info about this panel

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL COLD AUTOINFLAMMATORY SYNDROME that also includes the following genes: NLRP3 NLRC4 NLRP12

More info about this panel

PERIODIC FEVER Panel

Spain.

By Laboratorio de Genetica Clinica SL PERIODIC FEVER that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1

More info about this panel


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