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.
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
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
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
Search interest in TBCE
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
TBCE Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBCE gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
Sanjad-Sakati syndrome Panel
Spain.
By Bioarray
This panel specifically test the TBCE gene.
More info about this panel Spain.
Kenny-Caffey syndrome type 1 Panel
Spain.
By Bioarray
This panel specifically test the TBCE gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
Sanjad-Sakati Syndrome, Sequencing TBCE Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TBCE gene.
More info about this panel Spain.
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