AMPD2 gene related symptoms and diseases

All the information presented here about the AMPD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AMPD2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypoplasia of the corpus callosum Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases
Narrow forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AMPD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Postnatal microcephaly
  • Cerebral visual impairment
  • Progressive microcephaly
  • Clonus
  • Facial hypotonia
  • Areflexia of lower limbs
  • Profound global developmental delay
  • Short upper lip

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to AMPD2 gene

Here you will find a list of rare diseases related to the AMPD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PONTOCEREBELLAR HYPOPLASIA TYPE 9


Alternate names

PONTOCEREBELLAR HYPOPLASIA TYPE 9 Is also known as pch9

Description

Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.

Most common symptoms of PONTOCEREBELLAR HYPOPLASIA TYPE 9

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


More info about PONTOCEREBELLAR HYPOPLASIA TYPE 9

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63


Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63 Is also known as spg63

Description

Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63

  • Global developmental delay
  • Short stature
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63

SOURCES: OMIM ORPHANET


Potential gene panels for AMPD2 gene

Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2

More info about this panel

Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2

More info about this panel

Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2

More info about this panel

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

Hereditary spastic paraplegia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1

More info about this panel

Pontocerebellar hypoplasia type 9 (sequence analysis of AMPD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AMPD2 gene.

More info about this panel

Pontocerebellar hypoplasia type 9 (sequence analysis of AMPD2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AMPD2 gene.

More info about this panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel

AMPD2-Related Disorders via AMPD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AMPD2 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

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

Pontocerebellar hypoplasia, type 9 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AMPD2 gene.

More info about this panel

SPG63 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AMPD2 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

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2

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

AMPD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AMPD2 gene.

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel

PONTOCEREBELLAR HYPOPLASIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PONTOCEREBELLAR HYPOPLASIA NGS PANEL that also includes the following genes: VLDLR VRK1 CASK TSEN34 EXOSC3 RARS2 TSEN54 TSEN2 SEPSECS AMPD2

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DNAJB2 CACNA1C

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more