Symbol Name ID |
Hspd1
heat shock protein 1 (chaperonin) MGI:96242 |
Darker colors indicate more annotations |
Human Phenotypes | Secondary microcephaly |
Lower limb spasticity |
Spastic paraplegia |
Progressive spasticity |
Spastic gait |
Leukodystrophy |
Choreoathetosis |
Head titubation |
Abnormal pyramidal sign |
Babinski sign |
EEG abnormality |
Abnormal nonverbal communicative behavior |
Delayed speech and language development |
Lack of spontaneous play |
Impaired ability to form peer relationships |
Autism |
Inflexible adherence to routines |
Motor stereotypy |
Restrictive behavior |
Intellectual disability |
Intellectual disability, profound |
Hyperreflexia |
Hyperreflexia in upper limbs |
Global developmental delay |
Seizure |
Impaired vibration sensation in the lower limbs |
Disease(s) Associated with HSPD1 | ||||||||||||||||||||||||||
autistic disorder | ||||||||||||||||||||||||||
hereditary spastic paraplegia 13 | ||||||||||||||||||||||||||
hypomyelinating leukodystrophy 4 |
Mouse Phenotypes | abnormal corticospinal tract morphology |
abnormal motor neuron morphology |
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Availability | Mouse Genotype | ||
Hspd1Gt(OST171441)Lex/Hspd1+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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