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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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


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

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

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

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

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

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

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

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

SMCHD1 - FSHD2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SMCHD1 gene.

More info about this panel

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

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

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

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

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

SMCHD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SMCHD1 gene.

More info about this panel

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

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

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MTHFR ZNF711

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more