RIN2 gene related symptoms and diseases
All the information presented here about the RIN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RIN2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Increased susceptibility to fractures | Very Common - Between 80% and 100% cases |
| High myopia | Very Common - Between 80% and 100% cases |
| Thick lower lip vermilion | Very Common - Between 80% and 100% cases |
| Sparse scalp hair | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RIN2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Decreased body weight
- Bronchiectasis
- Gingival overgrowth
- Sparse and thin eyebrow
- Hypergonadotropic hypogonadism
- Cutis laxa
- Hyperextensible skin
- Redundant skin
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RIN2 gene
Here you will find a list of rare diseases related to the RIN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RIN2 SYNDROME
Alternate names
RIN2 SYNDROME Is also known as rin2 deficiency, tall forehead, sparse hair, skin hyperextensibility, and scoliosis, tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome, macrocephaly-alopecia-cutis laxa-scoliosis syndrome, macs syndrome, macrocephaly, alopecia, cutis laxa, a
Description
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.
Most common symptoms of RIN2 SYNDROME
- Intellectual disability
- Short stature
- Scoliosis
- Muscular hypotonia
- Cryptorchidism
More info about RIN2 SYNDROME
Search interest in RIN2
Potential gene panels for RIN2 gene
Macrocephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Macrocephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Cutis Laxa Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Cutis Laxa Panel that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 PTDSS1 PYCR1 ALDH18A1
More info about this panel United States.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panel United States.
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via RIN2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RIN2 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Macrocephaly, alopecia, cutis laxa, and scoliosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RIN2 gene.
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Ehlers-Danlos Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panel Estonia.
RIN2 screening Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the RIN2 gene.
More info about this panel Belgium.
RIN2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the RIN2 gene.
More info about this panel Belgium.
NGS panel - Cutis laxa Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Cutis laxa that also includes the following genes: RIN2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panel Netherlands.
RIN2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RIN2 gene.
More info about this panel United States.
CUTIS LAXA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CUTIS LAXA: NGS PANEL that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panel Spain.
Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A
More info about this panel Spain.
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