NLRC4 gene related symptoms and diseases

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

SOURCES: ORPHANET

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

SOURCES: OMIM ORPHANET

Most common symptoms of FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4

• Pain
• Splenomegaly
• Arthralgia
• Skin rash
• Pruritus

SOURCES: OMIM

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

SOURCES: ORPHANET OMIM MESH

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

SOURCES: OMIM ORPHANET