CC2D2A gene related symptoms and diseases

All the information presented here about the CC2D2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to CC2D2A gene

Symptoms // Phenotype	% Cases
Encephalocele	Very Common - Between 80% and 100% cases
Hydrocephalus	Very Common - Between 80% and 100% cases
Hepatic fibrosis	Common - Between 50% and 80% cases
Postaxial hand polydactyly	Common - Between 50% and 80% cases
Renal cyst	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CC2D2A gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Aplasia/Hypoplasia of the corpus callosum
Multicystic kidney dysplasia
Molar tooth sign on MRI
Congenital hepatic fibrosis
Cerebellar vermis hypoplasia
Retinal dystrophy
Coloboma
Seizures

And 190 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CC2D2A gene

Here you will find a list of rare diseases related to the CC2D2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MECKEL SYNDROME

Alternate names

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Description

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

Most common symptoms of MECKEL SYNDROME

Microcephaly
Hypertelorism
Micrognathia
Cleft palate
Cataract

More info about MECKEL SYNDROME

SOURCES: ORPHANET

MECKEL SYNDROME, TYPE 6; MKS6

Most common symptoms of MECKEL SYNDROME, TYPE 6; MKS6

Cleft palate
Talipes equinovarus
Hydrocephalus
Polydactyly
Cleft lip

More info about MECKEL SYNDROME, TYPE 6; MKS6

SOURCES: OMIM MESH

JOUBERT SYNDROME 9; JBTS9

Most common symptoms of JOUBERT SYNDROME 9; JBTS9

Intellectual disability
Seizures
Nystagmus
Abnormal facial shape
Cataract

More info about JOUBERT SYNDROME 9; JBTS9

SOURCES: OMIM

GASTROINTESTINAL STROMAL TUMOR

Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

Neoplasm
Pain
Anemia
Fever
Fatigue

More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

JOUBERT SYNDROME WITH HEPATIC DEFECT

Alternate names

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome, cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, js-h, joubert syndrome with congenital hepatic fibro

Description

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Most common symptoms of JOUBERT SYNDROME WITH HEPATIC DEFECT

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

SOURCES: ORPHANET MESH OMIM

JOUBERT SYNDROME WITH OCULORENAL DEFECT

Alternate names

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia, arima syndrome, js-or, js type b, cerebellooculorenal syndrome, joubert syndrome with senior-loken syndrome, cors, joubert syndrome with bilateral chorioretinal coloboma, cerebrooculohepatorenal syndrome, de

Description

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

Most common symptoms of JOUBERT SYNDROME WITH OCULORENAL DEFECT

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

SOURCES: OMIM ORPHANET

Search interest in CC2D2A

Potential gene panels for CC2D2A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

CC2D2A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CC2D2A gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to CC2D2A gene

MECKEL SYNDROME

Alternate names

Description

Most common symptoms of MECKEL SYNDROME

MECKEL SYNDROME, TYPE 6; MKS6

Most common symptoms of MECKEL SYNDROME, TYPE 6; MKS6

JOUBERT SYNDROME 9; JBTS9

Most common symptoms of JOUBERT SYNDROME 9; JBTS9

GASTROINTESTINAL STROMAL TUMOR

Alternate names

Description

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

JOUBERT SYNDROME WITH HEPATIC DEFECT

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME WITH HEPATIC DEFECT

JOUBERT SYNDROME WITH OCULORENAL DEFECT

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME WITH OCULORENAL DEFECT

Search interest in CC2D2A

Potential gene panels for CC2D2A gene

MitoMet®Plus aCGH Analysis Panel

CC2D2A DNA Sequencing Test Panel

Joubert Syndrome Evaluation Panel

Ciliopathies Panel

Comprehensive Brain Malformation Panel Panel

Joubert Syndrome Panel

Liver Diseases Deletion/duplication panel Panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

Joubert/Meckel-Gruber syndrome Panel Panel

Meckel Gruber Syndrome Sequencing Panel Panel

Renal Cystic Disorders Sequencing Panel Panel

Meckel Gruber Syndrome Deletion/Duplication Panel Panel

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

Comprehensive Brain Malformations Panel Panel

CC2D2A. Detection of the mutation c.1762C>T (p.Val587fs) by sequencing Panel

TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS Panel

CC2D2A. Complete sequencing Panel

Joubert syndrome type 9 (sequence analysis of CC2D2A gene) Panel

Meckel syndrome type 6 (sequence analysis of CC2D2A gene) Panel

Joubert syndrome (NGS panel for 24 genes) Panel

Ciliopathies (NGS panel for 90 genes) Panel

Meckel syndrome MKS1 and CC2D2A gene founder mutation analyses Panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Ciliopathy Sequencing Panel with CNV Detection Panel

Joubert and Meckel-Gruber Syndromes via CC2D2A Gene Sequencing with CNV Detection Panel

Nephronophthisis and related disorders NGS panel Panel

Nephronophthisis and related disorders Comprehensive panel Panel

Nephronophthisis and related disorders Deletion / Duplication panel Panel

Joubert syndrome and related disorders NGS panel Panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

Joubert syndrome and related disorders Comprehensive panel Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

Hepatic and pancreatic diseases - panels Panel

CC2D2A-Related Joubert Syndrome Panel

CC2D2A-Related Meckel Syndrome Panel

Meckel Gruber Syndrome Panel

COACH syndrome Panel

Joubert syndrome type 9 Panel

AllNeuro panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel Panel

Ataxia and differential diagnoses Panel Panel

Meckel Syndrome Panel Panel

Joubert Syndrome Panel Panel

Joubert Syndrome Panel

Brain malformations Panel

Eye diseases comprehensive panel Panel

Retinal Dystrophy Panel Panel