Phenotype: Abnormal neuron morphology (HP:0012757)
Associated genes and diseases:
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: MATR3
disease_id: OMIM:606070
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 21
gene_symbol: GBE1
disease_id: OMIM:263570
disease_name: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
gene_symbol: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: FUS
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: SQSTM1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TARDBP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TBK1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: CHCHD10
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: ERLIN2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: SETX
disease_id: OMIM:602433
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
gene_symbol: ASAH1
disease_id: ORPHA:2590
disease_name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: PLEKHG5
disease_id: OMIM:611067
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
gene_symbol: DCTN1
disease_id: OMIM:607641
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
gene_symbol: ATXN3
disease_id: ORPHA:276244
disease_name: Machado-Joseph disease type 3
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
gene_symbol: TRPM7
disease_id: OMIM:105500
disease_name: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
gene_symbol: SPG11
disease_id: OMIM:602099
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE
gene_symbol: C9orf72
disease_id: OMIM:105550
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: VPS13D
disease_id: ORPHA:95434
disease_name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
SCAR4
SCASI
gene_symbol: VPS41
disease_id: ORPHA:95434
disease_name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
SCAR4
SCASI
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: CPLANE1
disease_id: ORPHA:65684
disease_name: Monomelic amyotrophy
Benign focal amyotrophy
Hirayama disease
JMADUE
Juvenile muscular atrophy of distal upper extremity
Juvenile muscular atrophy of the distal upper limb
gene_symbol: CEP126
disease_id: ORPHA:65684
disease_name: Monomelic amyotrophy
Benign focal amyotrophy
Hirayama disease
JMADUE
Juvenile muscular atrophy of distal upper extremity
Juvenile muscular atrophy of the distal upper limb
gene_symbol: SMN1
disease_id: OMIM:253550
disease_name: SPINAL MUSCULAR ATROPHY, TYPE II
gene_symbol: SMN1
disease_id: OMIM:271150
disease_name: SPINAL MUSCULAR ATROPHY, TYPE IV
gene_symbol: SMN1
disease_id: OMIM:253400
disease_name: SPINAL MUSCULAR ATROPHY, TYPE III
gene_symbol: EXOSC8
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC9
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC3
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: SLC25A46
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: TFG
disease_id: OMIM:604484
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
gene_symbol: IGHMBP2
disease_id: OMIM:604320
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
gene_symbol: SMN2
disease_id: OMIM:253400
disease_name: SPINAL MUSCULAR ATROPHY, TYPE III
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VCP
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: UBA1
disease_id: ORPHA:1145
disease_name: Infantile-onset X-linked spinal muscular atrophy
SMAX2
Spinal muscular atrophy with arthrogryposis
X-linked distal arthrogryposis multiplex congenita
X-linked spinal muscular atrophy type 2
gene_symbol: CYLD
disease_id: OMIM:619132
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: TIA1
disease_id: OMIM:619133
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: TUBA4A
disease_id: OMIM:616208
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: OMIM:614373
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: KIF5A
disease_id: OMIM:617921
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
gene_symbol: RBM28
disease_id: ORPHA:157954
disease_name: ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
gene_symbol: TAF15
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VAPB
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PRPH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLT8D1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CFAP410
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PPARGC1A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: SOD1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: OPTN
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: FIG4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEFH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PFN1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANG
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UBQLN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEK1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ATXN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: DAO
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ERBB4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANXA11
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UNC13A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CCNF
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PIK3CA
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: AKT3
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: ZNF335
disease_id: ORPHA:329228
disease_name: Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism, Walsh type
gene_symbol: PRKAR1B
disease_id: ORPHA:412066
disease_name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: SERPINI1
disease_id: OMIM:604218
disease_name: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES