ZC4H2 gene related symptoms and diseases

All the information presented here about the ZC4H2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZC4H2 gene

Symptoms // Phenotype % Cases
Respiratory insufficiency Very Common - Between 80% and 100% cases
Arthrogryposis multiplex congenita Very Common - Between 80% and 100% cases
Short neck Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases
Narrow chest Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZC4H2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Skeletal muscle atrophy
  • Facial palsy
  • Kyphosis
  • Long philtrum
  • Seizures
  • Areflexia
  • Flexion contracture
  • Ptosis

And 105 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ZC4H2 gene

Here you will find a list of rare diseases related to the ZC4H2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME

Alternate names

INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, foot contractures-muscle atrophy-oculomotor apraxia syndrome, wieacker-wolff syndrome, mrxs4, apraxia, oculomotor, with congenital contractures and muscle atrophy, mcs, miles-carpen

Description

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

Most common symptoms of INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME

SOURCES: OMIM MESH ORPHANET

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Alternate names

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2, amc, distal, x-linked, arthrogryposis, x-linked, type i, spinal muscular atrophy, infantile x-linked, x-linked spinal muscular atrophy type 2, spinal muscular atrophy, x-linked lethal infantile, spinal muscular atrophy with arthrogryposis, x-linked distal

Description

X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

Most common symptoms of INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

SOURCES: ORPHANET OMIM MESH


Potential gene panels for ZC4H2 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel
United States.

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel
United States.

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel
United States.

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel
United States.

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel
United States.

ZC4H2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ZC4H2 gene.

More info about this panel
Spain.

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel
United States.

Wieacker-Wolff Syndrome via ZC4H2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ZC4H2 gene.

More info about this panel
United States.

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
Germany.

Wieacker-Wolff syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZC4H2 gene.

More info about this panel
Germany.

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel
Germany.

Single gene testing ZC4H2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ZC4H2 gene.

More info about this panel
Germany.

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel
United States.

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel
Finland.

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel
Finland.

ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH INTELLECTUAL DISABILITY (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ZC4H2 gene.

More info about this panel
Spain.

ARTHROGRYPOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2

More info about this panel
Spain.

Wieacker-Wolff Syndrome , Sequencing ZC4H2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ZC4H2 gene.

More info about this panel
Spain.

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