Details of HSPD1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| HSPD1 | HSP60 | P10809 | CH60_HUMAN | 3329
| Q9UCR6
| --- | Leukodystrophy |
Phenotypes
"Intellectual disability, Abnormal CNS myelination, Abnormal joint morphology, Abnormal muscle tone, Abnormality of central motor function, Abnormality of connective tissue, Abnormality of eye movement, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of temperature regulation, Abnormality of the bladder, Abnormality of the central nervous system, Abnormality of the eye, Abnormality of the genitourinary system, Abnormality of the lower urinary tract, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the urinary system, Age of onset, All, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Chorea, Choreoathetosis, Cognitive impairment, Congenital onset, Fever, Flexion contracture, Functional abnormality of the bladder, Hyperreflexia, Hypertonia, Impaired vibration sensation in the lower limbs, Impaired vibratory sensation, Intellectual disability, Involuntary movements, Leukodystrophy, Limb muscle weakness, Lower limb muscle weakness, Lower limb spasticity, Mode of inheritance, Muscle weakness, Muscular hypotonia, Nystagmus, Onset, Onset and clinical course, Pace of progression, Paralysis due to lesions of the principle motor tracts, Paraplegia, Paraplegia/paraparesis, Peripheral neuropathy, Phenotypic abnormality, Progressive disorder, Progressive spasticity, Seizures, Sensory impairment, Spastic gait, Spastic paraplegia, Spasticity, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Fatal error: Uncaught TypeError: count(): Argument #1 ($var) must be of type Countable|array, string given in /var/www/html/dbin/cnsb/metazoa/php/gene_details.php:895
Stack trace:
#0 {main}
thrown in /var/www/html/dbin/cnsb/metazoa/php/gene_details.php on line 895
