VAMP1 gene related symptoms and diseases

All the information presented here about the VAMP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to VAMP1 gene

Symptoms // Phenotype	% Cases
Ptosis	Very Common - Between 80% and 100% cases
Dysphagia	Very Common - Between 80% and 100% cases
Pes cavus	Very Common - Between 80% and 100% cases
Seizures	Common - Between 50% and 80% cases
Leg muscle stiffness	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with VAMP1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Ataxia
Supranuclear gaze palsy
Slow saccadic eye movements
Spastic gait
Memory impairment
Spastic paraplegia
Difficulty walking
Dystonia

And 84 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to VAMP1 gene

Here you will find a list of rare diseases related to the VAMP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

Alternate names

AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1 Is also known as spax1

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

Seizures
Ptosis
Hyperreflexia
Tremor
Dysphagia

More info about AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

SOURCES: ORPHANET

SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

Description

Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). Genetic Heterogeneity of Spastic AtaxiaSee also SPAX2 (OMIM ), caused by mutation in the KIF1C gene (OMIM ) on chromosome 17p13; SPAX3 (OMIM ), caused by rearrangements of the MARS2 gene (OMIM ) on chromosome 2q33; SPAX4 (OMIM ), caused by mutation in the MTPAP gene (OMIM ) on chromosome 10p11; SPAX5 (OMIM ), caused by mutation in the AFG3L2 gene (OMIM ) on chromosome 18p11; SPAX6 (OMIM ), caused by mutation in the SACS gene (OMIM ) on chromosome 13q12; SPAX7 (OMIM ); and SPAX8 (OMIM ), caused by mutation in the NKX6-2 gene (OMIM ) on chromosome 8q21.

Most common symptoms of SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

Ataxia
Spasticity
Ptosis
Hyperreflexia
Dysarthria

More info about SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

SOURCES: OMIM

PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Description

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Intellectual disability
Seizures
Ataxia
Nystagmus
Sensorineural hearing impairment

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET

Search interest in VAMP1

Potential gene panels for VAMP1 gene

Ataxia, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA

VAMP1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to VAMP1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to VAMP1 gene

AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

Alternate names

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

Description

Most common symptoms of SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Description

Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Search interest in VAMP1

Potential gene panels for VAMP1 gene

Ataxia, Comprehensive Evaluation Panel

Ataxia, Supplemental Dominant Evaluation Panel

Ataxia, Complete Dominant Evaluation Panel

Hereditary Spastic Paraplegia Panel Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Ataxia Exome Panel Panel

Autosomal dominant spastic ataxia 1 (sequence analysis of VAMP1 gene) Panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Neurogenetic Disorders - panels Panel

Autosomal dominant spastic ataxia Panel

AllNeuro panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Ataxia and differential diagnoses Panel Panel

Ataxia, autosomal dominant and X-linked Panel Panel

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

VAMP1 Panel

Ataxia Panel Panel

SPASTIC ATAXIA Panel

SPASTIC ATAXIA: NGS PANEL Panel

Spinocerebellar ataxia panel Panel