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.

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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

SOURCES: MESH OMIM ORPHANET

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


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

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

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

3MC2 syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COLEC11 gene.

More info about this panel

Single gene testing COLEC11 Panel

Germany.

By CeGaT GmbH

This panel specifically test the COLEC11 gene.

More info about this panel

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

COLEC11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COLEC11 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

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

3MC SYNDROME 2; 3MC2 Panel

Spain.

By Bioarray

This panel specifically test the COLEC11 gene.

More info about this panel

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


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