CLP1 gene related symptoms and diseases

All the information presented here about the CLP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CLP1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Progressive microcephaly Very Common - Between 80% and 100% cases
Thin upper lip vermilion Very Common - Between 80% and 100% cases
Irritability Very Common - Between 80% and 100% cases
Abnormality of the cerebral white matter Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CLP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Highly arched eyebrow
  • Brain atrophy
  • Delayed myelination
  • Underdeveloped nasal alae
  • Esotropia
  • Long eyelashes
  • Sensorimotor neuropathy
  • Cerebral cortical atrophy

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CLP1 gene

Here you will find a list of rare diseases related to the CLP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PONTOCEREBELLAR HYPOPLASIA TYPE 10


Alternate names

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10, clp1-related pontocerebellar hypoplasia

Description

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 10

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


More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

SOURCES: ORPHANET OMIM


Potential gene panels for CLP1 gene

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Pontocerebellar Hypoplasia via CLP1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CLP1 gene.

More info about this panel

Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection that also includes the following genes: VRK1 TSEN34 TSEN15 CLP1 EXOSC3 RARS2 VPS53 TSEN54 TSEN2 SEPSECS

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

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Epileptic Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

More info about this panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

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

Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Pontocerebellar hypoplasia, type 10 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CLP1 gene.

More info about this panel

CLP1 - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the CLP1 gene.

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

CLP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLP1 gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel


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