COLEC11 gene related symptoms and diseases
All the information presented here about the COLEC11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COLEC11 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Downslanted palpebral fissures | Very Common - Between 80% and 100% cases |
| Caudal appendage | Very Common - Between 80% and 100% cases |
| Epicanthus inversus | Very Common - Between 80% and 100% cases |
| Diastasis recti | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COLEC11 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Supernumerary nipple
- Radioulnar synostosis
- Highly arched eyebrow
- Hip dislocation
- Blepharophimosis
- Craniosynostosis
- Postnatal growth retardation
- Telecanthus
And 59 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COLEC11 gene
Here you will find a list of rare diseases related to the COLEC11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3MC SYNDROME 2; 3MC2
Alternate names
3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia, oculo-skeletal-abdominal syndrome, carnevale syndrome, formerly, osa syndrome
Description
The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).
Most common symptoms of 3MC SYNDROME 2; 3MC2
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Scoliosis
More info about 3MC SYNDROME 2; 3MC2
3MC SYNDROME
Alternate names
3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome, malpuech-michels-mingarelli-carnevale syndrome
Description
3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
Most common symptoms of 3MC SYNDROME
- Intellectual disability
- Hearing impairment
- Scoliosis
- Hypertelorism
- Ptosis
More info about 3MC SYNDROME
SOURCES: ORPHANET
Search interest in COLEC11
Potential gene panels for COLEC11 gene
COLEC11. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COLEC11 gene.
More info about this panel Spain.
Craniofacial-ulnar-renal syndrome (sequence analysis of COLEC11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COLEC11 gene.
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
3MC2 syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COLEC11 gene.
More info about this panel Germany.
Single gene testing COLEC11 Panel
Germany.
By CeGaT GmbH
This panel specifically test the COLEC11 gene.
More info about this panel Germany.
Complement deficiencies Panel Panel
Germany.
By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3
More info about this panel Germany.
COLEC11 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COLEC11 gene.
More info about this panel United States.
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 Finland.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
More info about this panel Finland.
3MC SYNDROME 2; 3MC2 Panel
Spain.
By Bioarray
This panel specifically test the COLEC11 gene.
More info about this panel Spain.
3MC Syndrome Type 2 , Sequencing COLEC11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COLEC11 gene.
More info about this panel Spain.
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