ALDH18A1 gene related symptoms and diseases
All the information presented here about the ALDH18A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDH18A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Hernia | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Cutis laxa | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ALDH18A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Skeletal muscle atrophy
- Tremor
- Spasticity
- Short stature
- Growth delay
- Microcephaly
- Hyperreflexia
- Urinary incontinence
And 224 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDH18A1 gene
Here you will find a list of rare diseases related to the ALDH18A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT CUTIS LAXA
Alternate names
AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl
Description
Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
Most common symptoms of AUTOSOMAL DOMINANT CUTIS LAXA
- Generalized hypotonia
- Hypertelorism
- Feeding difficulties
- Fatigue
- Respiratory distress
More info about AUTOSOMAL DOMINANT CUTIS LAXA
CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
Description
Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).
Most common symptoms of CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3
SOURCES: OMIM
ALDH18A1-RELATED DE BARSY SYNDROME
Alternate names
ALDH18A1-RELATED DE BARSY SYNDROME Is also known as neurocutaneous syndrome, bicknell type, p5cs deficiency, delta-1-pyrroline 5-carboxylate synthetase deficiency
Description
ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
Most common symptoms of ALDH18A1-RELATED DE BARSY SYNDROME
- Intellectual disability
- Global developmental delay
- Cataract
- Joint hyperflexibility
- Hyperextensible skin
More info about ALDH18A1-RELATED DE BARSY SYNDROME
SOURCES: ORPHANET
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
Alternate names
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a, cutis laxa, corneal clouding, and mental retardation, progeroid syndrome of de barsy
Description
De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}.
Most common symptoms of CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
SOURCES: OMIM
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a, spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome, cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A
- Seizures
- Sensorineural hearing impairment
- Muscle weakness
- Tremor
- Babinski sign
More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A
SOURCES: ORPHANET
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A
Alternate names
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux, cataracts with motor neuronopathy, short stature, and skeletal abnormalities
Description
Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).
Most common symptoms of SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A
- Global developmental delay
- Short stature
- Nystagmus
- Muscle weakness
- Cataract
More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b
Description
Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9B
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9B Is also known as ad-spg9b
More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9B
SOURCES: ORPHANET
Search interest in ALDH18A1
Potential gene panels for ALDH18A1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Hereditary Spastic Paraplegia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panel United States.
Hereditary Spastic Paraplegia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
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.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Cutis Laxa Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Cutis Laxa Panel that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 PTDSS1 PYCR1 ALDH18A1
More info about this panel United States.
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panel United States.
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.
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via ALDH18A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ALDH18A1 gene.
More info about this panel United States.
Cutis laxa Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cutis laxa Deletion / Duplication panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1
More info about this panel United States.
Cutis laxa NGS panel Panel
United States.
By Connective Tissue Gene Tests Cutis laxa NGS panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1
More info about this panel United States.
Cutis laxa Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cutis laxa Comprehensive panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1
More info about this panel United States.
Progeroid syndromes and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
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.
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.
Cutis laxa panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cutis laxa panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Cutis laxa type 3A, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDH18A1 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.
Micro syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Micro syndrome panel that also includes the following genes: RAB18 TBC1D20 RAB3GAP1 RAB3GAP2 CUL7 CREBBP ALDH18A1
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
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.
Progeria syndromes Panel Panel
Germany.
By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
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.
Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 ABHD12 NIPA1 REEP2 CPT1C KANK1 REEP1
More info about this panel Germany.
Ehlers-Danlos Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panel Estonia.
ALDH18A1 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the ALDH18A1 gene.
More info about this panel Belgium.
Cutis laxa gene panel Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital Cutis laxa gene panel that also includes the following genes: TALDO1 ATP6V0A2 COG7 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1
More info about this panel Belgium.
Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel that also includes the following genes: RTN2 ATL1 SPAST VAMP1 BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A
More info about this panel United States.
Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel that also includes the following genes: SACS SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panel United States.
Invitae Urea Cycle Disorders Panel Panel
United States.
By Invitae Invitae Urea Cycle Disorders Panel that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OAT OTC ALDH18A1
More info about this panel United States.
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panel United States.
NGS panel - Cutis laxa Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Cutis laxa that also includes the following genes: RIN2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panel Netherlands.
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.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
ALDH18A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDH18A1 gene.
More info about this panel United States.
Cutis Laxa Panel Panel
Finland.
By Blueprint Genetics Cutis Laxa Panel that also includes the following genes: SLC2A10 ATP6V0A2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panel Finland.
Progeria and Progeroid Syndromes Panel Panel
Finland.
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
More info about this panel Finland.
Aorta Panel Panel
Finland.
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Ehlers-Danlos Syndrome Panel Panel
Finland.
By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panel Finland.
Cataract Panel Panel
Finland.
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panel Finland.
CUTIS LAXA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CUTIS LAXA: NGS PANEL that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1
More info about this panel Spain.
CUTIS LAXA (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL CUTIS LAXA (AUTOSOMAL RECESSIVE) that also includes the following genes: ATP6V0A2 EFEMP2 FBLN5 LTBP4 PYCR1 ALDH18A1
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.
Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A
More info about this panel Spain.
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