ADCY6 gene related symptoms and diseases

All the information presented here about the ADCY6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC.

Top 5 symptoms associated to ADCY6 gene



Symptoms // Phenotype % Cases
Respiratory distress Very Common - Between 80% and 100% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Distal arthrogryposis Uncommon - Between 30% and 50% cases
Facial diplegia Uncommon - Between 30% and 50% cases
Pterygium Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ADCY6 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Akinesia Paralysis Arthrogryposis multiplex congenita Areflexia Polyhydramnios Cleft palate Generalized hypotonia Autosomal recessive inheritance

And 4 more phenotypes.

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Rare diseases associated to ADCY6 gene

Here you will find a list of rare diseases related to the ADCY6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

Description

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

LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Description

Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, 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 8; LCCS8

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Cleft palate
  • Respiratory distress
  • Areflexia


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

SOURCES: OMIM UMLS MONDO

Potential gene panels for ADCY6 gene

Congenital Contractures Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Congenital Contractures Panel that also includes the following genes: FKBP10 COL3A1 FBN1 PLOD3 SLC39A13 PLOD2 ALG2 CHAT CHRNE DOK7

More info about this panel

Congenital contracture syndrome extended NGS panel Panel

By Connective Tissue Gene Tests in United States. Congenital contracture syndrome extended NGS panel that also includes the following genes: DOK7 RAPSN DNM2 LMNA TPM2 MUSK CHRNA1 CHRND CHRNG NALCN

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: DOK7 RAPSN DNM2 LMNA TPM2 MUSK CHRNA1 CHRND CHRNG NALCN

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

By Connective Tissue Gene Tests in United States. Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: DOK7 RAPSN DNM2 LMNA TPM2 MUSK CHRNA1 CHRND CHRNG NALCN

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

By Connective Tissue Gene Tests in United States. Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: DOK7 RAPSN DNM2 LMNA MUSK CHRNA1 CHRND CHRNG GLE1 NEK9

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

By Connective Tissue Gene Tests in United States. Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: DOK7 RAPSN DNM2 LMNA MUSK CHRNA1 CHRND CHRNG GLE1 NEK9

More info about this panel

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

By Connective Tissue Gene Tests in United States. Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: DOK7 RAPSN DNM2 LMNA MUSK CHRNA1 CHRND CHRNG GLE1 NEK9

More info about this panel

Vascular and connective tissue diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Vascular and connective tissue diseases - panels that also includes the following genes: TTR AGL B4GALT7 ADSL COL1A1 COL1A2 COL3A1 AMACR POLG AFG3L2

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

By CeGaT GmbH in Germany. Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: FKBP10 PLOD2 ALG2 CHAT DPAGT1 CHRNE DOK7 RAPSN DNM2 SCN4A

More info about this panel

ADCY6 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADCY6 gene.

More info about this panel


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