TBCE gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TBCE gene

Symptoms // Phenotype % Cases
Hypoparathyroidism Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Tetany Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with TBCE gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Small hand
  • Postnatal growth retardation
  • Short foot
  • Hypocalcemia
  • Recurrent bacterial infections
  • Delayed skeletal maturation
  • Hypoplasia of the corpus callosum
  • Intellectual disability

And 98 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TBCE gene

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


SANJAD-SAKATI SYNDROME


Alternate names

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome, hrd syndrome, sanjad-sakati syndrome, hypoparathyroidism-intellectual disability-dysmorphism syndrome, hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay, sss, hypoparathyroidism wi

Description

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

Most common symptoms of SANJAD-SAKATI SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about SANJAD-SAKATI SYNDROME

SOURCES: ORPHANET MESH OMIM

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME


Alternate names

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs, kenny-caffey syndrome, autosomal recessive

Description

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

Most common symptoms of AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

SOURCES: ORPHANET MESH OMIM

EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME


Description

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Most common symptoms of EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for TBCE gene

Hypoparathyroidism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2

More info about this panel

Hypoparathyroidism sequencing panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

TBCE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TBCE gene.

More info about this panel

TBCE. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TBCE gene.

More info about this panel

Kenny-Caffey syndrome (sequence analysis of TBCE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TBCE gene.

More info about this panel

Sanjad-Sakati syndrome (sequence analysis of TBCE gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TBCE gene.

More info about this panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Portugal.

By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5

More info about this panel

Kenny-Caffey Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Kenny-Caffey Syndrome Sequencing Panel with CNV Detection that also includes the following genes: TBCE FAM111A

More info about this panel

Hypoparathyroidism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS

More info about this panel

Kenny-Caffey Syndrome Type 1 via TBCE Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TBCE gene.

More info about this panel

Kenny-Caffey syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Kenny-Caffey syndrome Comprehensive panel that also includes the following genes: TBCE FAM111A

More info about this panel

Kenny-Caffey syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Kenny-Caffey syndrome Deletion / Duplication panel that also includes the following genes: TBCE FAM111A

More info about this panel

Kenny-Caffey syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Kenny-Caffey syndrome NGS panel that also includes the following genes: TBCE FAM111A

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Epileptic encephalopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic encephalopathy panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

More info about this panel

Hypoparathyroidism-retardation-dysmorphism syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TBCE gene.

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

Basal ganglia calcification Panel Panel

Germany.

By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

Dystonia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

TBCE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBCE gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

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

Sanjad-Sakati syndrome Panel

Spain.

By Bioarray

This panel specifically test the TBCE gene.

More info about this panel

Kenny-Caffey syndrome type 1 Panel

Spain.

By Bioarray

This panel specifically test the TBCE gene.

More info about this panel

KENNY-CAFFEY SYNDROME TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TBCE 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

Kenny-Caffey Syndrome Type 1, Sequencing TBCE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TBCE gene.

More info about this panel

Sanjad-Sakati Syndrome, Sequencing TBCE Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TBCE gene.

More info about this panel


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