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.
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
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
Search interest in AMPD2
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
SPG63 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AMPD2 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.
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 Germany.
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 Germany.
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 Estonia.
AMPD2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AMPD2 gene.
More info about this panel United States.
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 Finland.
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 Spain.
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 Spain.
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