SMCHD1 gene related symptoms and diseases
All the information presented here about the SMCHD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SMCHD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Muscular dystrophy | Uncommon - Between 30% and 50% cases |
| Hyposmia | Uncommon - Between 30% and 50% cases |
| Anophthalmia | Uncommon - Between 30% and 50% cases |
| Anosmia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SMCHD1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypogonadism
- Inguinal hernia
- Microphthalmia
- Cryptorchidism
- Cataract
- Cleft palate
- Iris coloboma
- Hearing impairment
And 69 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SMCHD1 gene
Here you will find a list of rare diseases related to the SMCHD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FACIOSCAPULOHUMERAL DYSTROPHY
Alternate names
FACIOSCAPULOHUMERAL DYSTROPHY Is also known as fsh dystrophy, fshd, landouzy-dejerine myopathy, facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy
Description
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
Most common symptoms of FACIOSCAPULOHUMERAL DYSTROPHY
- Sensorineural hearing impairment
- Skeletal muscle atrophy
- Abnormality of cardiovascular system morphology
- Elevated serum creatine phosphokinase
- Hyperlordosis
More info about FACIOSCAPULOHUMERAL DYSTROPHY
SOURCES: ORPHANET
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2
Alternate names
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 Is also known as facioscapulohumeral muscular dystrophy 2, digenic, fshd1b, muscular dystrophy, facioscapulohumeral, type 2, fshd2, digenic, muscular dystrophy, facioscapulohumeral, type 1b
Description
Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012).FSHD1 (OMIM ), which is clinically indistinguishable from FSHD2, is associated with contraction of the D4Z4 macrosatellite repeat (see {606009}) in the subtelomeric region of chromosome 4q35. The disease mechanisms of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and variegated expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012).
Most common symptoms of FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Pain
- Fatigue
More info about FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2
SOURCES: OMIM
ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME
Alternate names
ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
Description
Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.
Most common symptoms of ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME
- Hearing impairment
- Hypertelorism
- Cleft palate
- Cataract
- Cryptorchidism
More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME
HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME
Alternate names
HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome, bosma-henkin-christiansen syndrome
Description
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
Most common symptoms of HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME
- Cleft palate
- Cataract
- Cryptorchidism
- Blindness
- Microphthalmia
More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME
SOURCES: ORPHANET
Search interest in SMCHD1
Potential gene panels for SMCHD1 gene
Muscular Dystrophy Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
Facioscapulohumeral muscular dystrophy 2 (sequence analysis of SMCHD1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SMCHD1 gene.
More info about this panel Portugal.
Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype) Panel
Portugal.
By CGC Genetics Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype) that also includes the following genes: SMCHD1 DUX4
More info about this panel Portugal.
Congenital muscular dystrophies (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panel Portugal.
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panel United States.
Facioscapulohumeral Muscular Dystrophy 2 via SMCHD1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SMCHD1 gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
SMCHD1 - FSHD2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SMCHD1 gene.
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Disease with FSHD Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with FSHD Phenocopies that also includes the following genes: SGCA VCP CAPN3 SMCHD1 FHL1
More info about this panel Germany.
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.
Muscular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panel Germany.
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel United States.
SMCHD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SMCHD1 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
LGMD and Congenital Muscular Dystrophy Panel Panel
Finland.
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Finland.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel Finland.
Facioscapulohumeral Dystrophy Type 2 , Massive Sequencing (NGS) SMCHD1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SMCHD1 gene.
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Facioscapulohumeral Muscular Dystrophy: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SMCHD1 gene.
More info about this panel Canada.
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