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Hutchinson-Gilford progeria syndrome
1 OMIM reference -
2 associated genes
145 connected diseases
43 signs/symptoms
Disease Type of connection
Lethal restrictive dermopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Progeria-associated arthropathy
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Familial isolated dilated cardiomyopathy
X-linked Emery-Dreifuss muscular dystrophy
Precursor T-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
Hereditary breast and ovarian cancer syndrome
Acute promyelocytic leukemia
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Adult-onset autosomal dominant leukodystrophy
Burkitt lymphoma
Familial gastric cancer
Gastric linitis plastica
Early-onset generalized limb-onset dystonia
Myoclonus-dystonia syndrome
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Nuclear cataract
Adult hepatocellular carcinoma
Berardinelli-Seip congenital lipodystrophy
Congenital non-bullous ichthyosiform erythroderma
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Lamellar ichthyosis
Self-healing collodion baby
3C syndrome
Adult-onset distal myopathy due to VCP mutation
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Autosomal dominant spastic paraplegia type 8
Autosomal recessive limb-girdle muscular dystrophy type 2T
Behavioral variant of frontotemporal dementia
Combined immunodeficiency due to STK4 deficiency
Congenital bilateral absence of vas deferens
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Cystic fibrosis
Dedifferentiated liposarcoma
Desmoid tumor
Estrogen resistance syndrome
Familial hemophagocytic lymphohistiocytosis
Fibronectin glomerulopathy
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Hepatocellular carcinoma, childhood-onset
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Male infertility with normal virilization due to meiosis defect
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscle-eye-brain disease
Muscular dystrophy, Selcen type
Nestor-Guillermo progeria syndrome
Progressive non-fluent aphasia
Semantic dementia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spastic paraplegia - Paget disease of bone
Squamous cell carcinoma of head and neck
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Fanconi anemia
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Translocation renal cell carcinoma
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
12q14 microdeletion syndrome
46,XY partial gonadal dysgenesis
Acute necrotizing encephalopathy of childhood
Ataxia-telangiectasia-like disorder
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal thrombocytopenia with normal platelets
Buschke-Ollendorff syndrome
Constitutional mismatch repair deficiency syndrome
Distal 22q11.2 microdeletion syndrome
Extraskeletal Ewing sarcoma
Familial acute necrotizing encephalopathy
Familial atrial fibrillation
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frontotemporal dementia with motor neuron disease
Greenberg dysplasia
Hereditary nonpolyposis colon cancer
Inflammatory myofibroblastic tumor
Isolated osteopoikilosis
Juvenile amyotrophic lateral sclerosis
Melorheostosis with osteopoikilosis
Methylmalonic acidemia with homocystinuria, type cblX
Myxoid / round cell liposarcoma
Non-polyposis Turcot syndrome
Papillary or follicular thyroid carcinoma
Partial acquired lipodystrophy
Reducing body myopathy
Renal tubular dysgenesis of genetic origin
Reynolds syndrome
Sjögren-Larsson syndrome
TARP syndrome
Williams syndrome
Wolfram syndrome
X-linked myopathy with postural muscle atrophy
X-linked non-syndromic intellectual deficit
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Primary peritoneal carcinoma
- Progeria

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D011371

Gene symbol UniProt reference OMIM reference
LMNA P02545150330
ZMPSTE24 O75844606480
Very frequent
- Abnormal fat distribution / lipodystrophy
- Alopecia
- Anodontia / oligodontia / hypodontia
- Asthenia / fatigue / weakness
- Decreased body hair / axillar / pubic hairlessness
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Proptosis / exophthalmos
- Short stature / dwarfism / nanism
- Skull / cranial anomalies
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin skin
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Weight loss / loss of appetite / break in weight curve / general health alteration

- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Angor pectoris / myocardial infarction
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Beaked nose
- Clavicle absent / abnormal
- External ear anomalies
- Global upper and lower limbs anomalies
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rippled skin
- Thin / retracted lips
- Tight skin / lack of elasticity

- Articular / joint pain / arthralgia
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Nephrosclerosis