UBA1 gene related symptoms and diseases

All the information presented here about the UBA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to UBA1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Respiratory insufficiency due to muscle weakness Very Common - Between 80% and 100% cases
Dolichocephaly Very Common - Between 80% and 100% cases
Arthrogryposis multiplex congenita 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 UBA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Wide intermamillary distance
  • Hypoplasia of penis
  • Decreased fetal movement
  • Interphalangeal joint contracture of finger
  • Open mouth
  • Bilateral single transverse palmar creases
  • Abnormality of the fingernails
  • Severe muscular hypotonia

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to UBA1 gene

Here you will find a list of rare diseases related to the UBA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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 UBA1 gene

X-Linked Spinal Muscular Atrophy (XLSMA) - UBE1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the UBA1 gene.

More info about this panel

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

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

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

Spinal muscular atrophy, X-linked, infantile (SMAX2, sequence analysis of UBA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the UBA1 gene.

More info about this panel

Spinal muscular atrophy (NGS panel for 21 genes) Panel

Portugal.

By CGC Genetics Spinal muscular atrophy (NGS panel for 21 genes) that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 TRPV4

More info about this panel

Spinal muscular atrophy, X-linked infantile Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the UBA1 gene.

More info about this panel

Spinal Muscular Atrophy, X-Linked Infantile Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the UBA1 gene.

More info about this panel

Newborn: “Floppy Infant “ Panel

Germany.

By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Spinal Muscular Atrophy Panel Panel

Germany.

By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3

More info about this panel

Spinal Muscular Atrophy (SMA) Panel Panel

Germany.

By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Hereditary Motor Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Motor Neuropathy Panel that also includes the following genes: SMN1 SMN2 UBA1 VAPB SLC5A7 CHCHD10 BSCL2 BICD2 TRPV4 REEP1

More info about this panel

Spinal muscular atrophy, X-linked infantile: UBA1 gene sequence analysis (exon 15) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the UBA1 gene.

More info about this panel

UBA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UBA1 gene.

More info about this panel

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

Spinal Muscular Atrophy Panel Panel

Finland.

By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2

More info about this panel

ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL (X-LINKED ) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the UBA1 gene.

More info about this panel

INFANTILE SPINAL MUSCULAR ATROPHY (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the UBA1 gene.

More info about this panel

ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2

More info about this panel

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

X-Linked Spinal Muscular Atrophy , Sequencing UBA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the UBA1 gene.

More info about this panel

X-Linked Spinal Muscular Atrophy , Sequencing Exon 15 UBA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the UBA1 gene.

More info about this panel

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

Spain.

By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B

More info about this panel

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

Spain.

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel

Spain.

By Reference Laboratory Genetics Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SCO2 SMN1 SMN2 UBA1 VAPB VRK1 SLC5A7 BSCL2 TRPV4 REEP1

More info about this panel


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