BICD2 gene related symptoms and diseases

All the information presented here about the BICD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, 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 BICD2 gene

Symptoms // Phenotype	% Cases
Generalized hypotonia	Very Common - Between 80% and 100% cases
Hip contracture	Very Common - Between 80% and 100% cases
Knee flexion contracture	Very Common - Between 80% and 100% cases
Short chin	Very Common - Between 80% and 100% cases
Scapular winging	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BICD2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Gowers sign
Spinal muscular atrophy
Toe walking
Overlapping toe
Brisk reflexes
Difficulty climbing stairs
Axonal loss
Difficulty running

And 43 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BICD2 gene

Here you will find a list of rare diseases related to the BICD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES

Alternate names

AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES Is also known as lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, smaled2

Description

SMALED2 is an autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013).For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (OMIM ).

Most common symptoms of AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES

Generalized hypotonia
Microcephaly
Micrognathia
Muscle weakness
Spasticity

More info about AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES

SOURCES: OMIM ORPHANET

Search interest in BICD2

Potential gene panels for BICD2 gene

Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation that also includes the following genes: UBA1 VRK1 BICD2 TRPV4 DYNC1H1 HSPB8 GARS HSPB1 HSPB3 IGHMBP2

BICD2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to BICD2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to BICD2 gene

AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY WITH CONTRACTURES

Search interest in BICD2

Potential gene panels for BICD2 gene

Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Panel

Neuromuscular Disorders Panel Panel

Hereditary Spastic Paraplegia Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 (sequence analysis of BICD2 gene) Panel

Spinal muscular atrophy (NGS panel for 21 genes) Panel

Congenital Myopathy Sequencing Panel Panel

Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel

Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel Panel

Distal hereditary motor neuropathy and related disorders NGS panel Panel

Distal hereditary motor neuropathy and related disorders Comprehensive panel Panel

Spinal muscular atrophy, lower extremity-predominant, 2, AD Panel

Neuropathy Panel

BICD2 Panel

Neurogenetic Disorders - panels Panel

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel

Newborn: “Floppy Infant “ Panel

Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel

Muscle Disease with Distal Myopathy Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 Panel

AllNeuro panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Spinal Muscular Atrophy Panel Panel

Spinal Muscular Atrophy (SMA) Panel Panel

Single gene testing BICD2 Panel

Invitae Comprehensive Neuropathies Panel Panel

Invitae Hereditary Motor Neuropathy Panel Panel

BICD2 Panel

Spinal Muscular Atrophy Panel Panel

ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel

SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT Panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel