CLCF1 gene related symptoms and diseases

All the information presented here about the CLCF1 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 CLCF1 gene

Symptoms // Phenotype % Cases
Scoliosis Common - Between 50% and 80% cases
Full cheeks Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CLCF1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Feeding difficulties
  • Anteverted nares
  • Long philtrum
  • Hyperhidrosis
  • Not very common - Between 30% and 50% cases

  • Cognitive impairment
  • Opisthotonus
  • Limited elbow extension
  • Trismus

And 96 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CLCF1 gene

Here you will find a list of rare diseases related to the CLCF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Description

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Most common symptoms of CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

SOURCES: OMIM MESH

COLD-INDUCED SWEATING SYNDROME


Alternate names

COLD-INDUCED SWEATING SYNDROME Is also known as ciss

Description

Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.


More info about COLD-INDUCED SWEATING SYNDROME

SOURCES: ORPHANET

CRISPONI SYNDROME


Description

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Most common symptoms of CRISPONI SYNDROME

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


More info about CRISPONI SYNDROME

SOURCES: ORPHANET

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Alternate names

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome, sohar-crisponi syndrome, muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Description

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

Most common symptoms of CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

SOURCES: MESH OMIM


Potential gene panels for CLCF1 gene

Cold-Induced sweating syndrome including Crisponi syndrome: CLCF1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CLCF1 gene.

More info about this panel

CLCF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLCF1 gene.

More info about this panel

CRISPONI SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL CRISPONI SYNDROME that also includes the following genes: CLCF1 CRLF1

More info about this panel

COLD INDUCED SWEATING SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL COLD INDUCED SWEATING SYNDROME that also includes the following genes: CLCF1 CRLF1

More info about this panel

Induced Sweating by Cold Syndrome including Crisponi Syndrome , Sequencing CLCF1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CLCF1 gene.

More info about this panel


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