KPTN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to KPTN gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Mandibular prognathia Very Common - Between 80% and 100% cases
Microretrognathia Very Common - Between 80% and 100% cases
Finger clinodactyly Very Common - Between 80% and 100% cases
Recurrent pneumonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Stereotypy
  • Broad nasal tip
  • Craniosynostosis
  • Aggressive behavior
  • Anxiety
  • Hepatosplenomegaly
  • Retrognathia
  • Prominent forehead

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KPTN gene

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


MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Description

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Most common symptoms of MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for KPTN gene

Macrocephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Macrocephaly Deletion/Duplication Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Macrocephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Macrocephaly Sequencing Panel that also includes the following genes: MED12 NSD1 RAB39B BRWD3 SETD2 RIN2 UPF3B TBC1D7 RNF125 RNF135

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

Macrocephaly Panel

Germany.

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Mental retardation, autosomal recessive type 41 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KPTN gene.

More info about this panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

United States.

By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2

More info about this panel

KPTN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KPTN gene.

More info about this panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Finland.

By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

KPTN Defect Syndrome Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the KPTN gene.

More info about this panel

Autosomal Recessive Mental Retardation Type 41, Sequencing KPTN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KPTN gene.

More info about this panel


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