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Pelizaeus-Merzbacher-like due to HSPD1 mutation
1 OMIM reference -
1 associated gene
128 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant spastic paraplegia type 13
Precursor T-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Chronic myeloid leukemia
Giant cell glioblastoma
Gliosarcoma
Noonan syndrome
Pilocytic astrocytoma
Young adult-onset Parkinsonism
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Osteopetrosis with renal tubular acidosis
Constitutional megaloblastic anemia with severe neurologic disease
Familial renal cell carcinoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
LEOPARD syndrome
Familial gastric cancer
Gastric linitis plastica
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Estrogen resistance syndrome
Pseudohypoaldosteronism type 2E
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal recessive spastic paraplegia type 20
Burkitt lymphoma
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Idiopathic bronchiectasis
Incontinentia pigmenti
Male infertility with normal virilization due to meiosis defect
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Ewing sarcoma
Extraskeletal Ewing sarcoma
Hypoplasminogenemia
Ligneous conjunctivitis
Peripheral primitive neuroectodermal tumor
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Adrenocortical carcinoma
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
B-cell chronic lymphocytic leukemia
Behavioral variant of frontotemporal dementia
Cerebellar ataxia - hypogonadism
Chronic mucocutaneous candidiasis
Combined immunodeficiency due to STK4 deficiency
Congenital brain dysgenesis due to glutamine synthetase deficiency
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Distal 22q11.2 microdeletion syndrome
Distal myopathy with posterior leg and anterior hand involvement
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Essential thrombocythemia
Fibronectin glomerulopathy
Glucocorticoid resistance
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Huntington disease
Hypoplastic left heart syndrome
Inflammatory myofibroblastic tumor
Intellectual deficit, X-linked, Snyder type
Juvenile Huntington disease
Li-Fraumeni syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscle filaminopathy
Neuroblastoma
Oculodentodigital dysplasia
Papilloma of choroid plexus
Phosphoenolpyruvate carboxykinase 1 deficiency
Pontocerebellar hypoplasia type 1
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Syndactyly type 3
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 26
Genetic recurrent myoglobinuria
Isolated cytochrome C oxidase deficiency
Leber hereditary optic neuropathy
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
MELAS syndrome
Maternally-inherited Leigh syndrome
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Capillary malformation - arteriovenous malformation
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Parkes Weber syndrome
Action myoclonus - renal failure syndrome
Cardiofaciocutaneous syndrome
Cobblestone lissencephaly without muscular or ocular involvement
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Costello syndrome
Gaucher disease type 1
Genetic hyperferritinemia without iron overload
Glycogen storage disease due to aldolase A deficiency
Hereditary hyperferritinemia with congenital cataracts
Hereditary nonpolyposis colon cancer
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Juvenile myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Linear nevus sebaceus syndrome
Neuralgic amyotrophy
Neuroferritinopathy
Oligoarticular juvenile arthritis
Unverricht-Lundborg disease
Synonym(s):
- Mitochondrial HSP60 chaperonopathy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HSPD1 P10809118190
No signs/symptoms info available.