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.
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
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).
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
Search interest in CLCF1
Potential gene panels for CLCF1 gene
Cold-Induced sweating syndrome including Crisponi syndrome: CLCF1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CLCF1 gene.
More info about this panelCLCF1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLCF1 gene.
More info about this panelCRISPONI SYNDROME Panel
By Laboratorio de Genetica Clinica SL CRISPONI SYNDROME that also includes the following genes: CLCF1 CRLF1
More info about this panelCOLD INDUCED SWEATING SYNDROME Panel
By Laboratorio de Genetica Clinica SL COLD INDUCED SWEATING SYNDROME that also includes the following genes: CLCF1 CRLF1
More info about this panelInduced Sweating by Cold Syndrome including Crisponi Syndrome , Sequencing CLCF1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CLCF1 gene.
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