CNTNAP1 gene related symptoms and diseases

All the information presented here about the CNTNAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CNTNAP1 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Oral-pharyngeal dysphagia Uncommon - Between 30% and 50% cases
EMG abnormality Uncommon - Between 30% and 50% cases
Limitation of joint mobility Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CNTNAP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Muscular hypotonia
  • Fetal akinesia sequence
  • Facial diplegia
  • Distal arthrogryposis
  • Akinesia
  • Congenital contracture
  • Micrognathia
  • Pterygium

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CNTNAP1 gene

Here you will find a list of rare diseases related to the CNTNAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7


Description

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

SOURCES: OMIM

HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME


Description

Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Most common symptoms of HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

SOURCES: ORPHANET


Potential gene panels for CNTNAP1 gene

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

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

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

CNTNAP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CNTNAP1 gene.

More info about this panel

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


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