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Hutchinson-Gilford progeria syndrome
1 OMIM reference -
2 associated genes
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
Hutchinson-Gilford progeria syndrome
Distal 22q11.2 microdeletion syndrome

LMNA
(UniProt - OMIM)
 BCR
(UniProt - OMIM)
ZMPSTE24
(UniProt - OMIM)
 CRKL
(UniProt - OMIM)
MAPK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.49)
CRKL


Citations in the biomedical literature:


Hutchinson-Gilford progeria syndrome
LMNA ZMPSTE24
Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1



Hutchinson-Gilford progeria syndrome
Distal 22q11.2 microdeletion syndrome

Synonym(s):
- Progeria
Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D011371
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin / retracted lips

Hutchinson-Gilford progeria syndrome
Distal 22q11.2 microdeletion syndrome

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
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Proptosis / exophthalmos
- Skull / cranial anomalies
- Thin skin
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- 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
- Global upper and lower limbs anomalies
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rippled skin
- Tight skin / lack of elasticity

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


Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Clinodactyly of fifth finger
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- Flat foot
- Intrauterine growth retardation
- Microcephaly
- Pointed chin
- Thin / hypoplastic ala nasi

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- High vaulted / narrow palate
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Obsessive-compulsive disorder
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of toes
- Tics / stereotypias
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes