Nestor-Guillermo progeria syndrome |
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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Short stature | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Facial dysmorphism | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Delayed closure of anterior fontanel | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Alopecia | integumentary | 100 % | 21932319 | 2013-08-06 | |
| Micrognathia | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Decreased subcutaneous fat | integumentary | 100 % | 21932319 | 2013-08-06 | |
| Skin pigmentation changes | integumentary | 100 % | 21932319 | 2013-08-06 | |
| Hypoplastic or absent clavicles | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Thorax deformity | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Thin limbs | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Stiff joints | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Contracture | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Acro-osteolysis | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Osteoporosis | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Prominent veins | circulatory | 100 % | 21932319 | 2013-08-06 | |
| Scoliosis | skeletal | 100 % | 21932319 | 2013-08-06 | |
| Nail dystrophy | integumentary | 100 % | 21932319 | 2013-08-06 | |
| Weight loss | multi | 100 % | 21932319 | 2013-08-06 | |
| Skin atrophy | integumentary | 100 % | 21932319 | 2013-08-06 | |
| Hypoglycemia | circulatory | 50 % | 21932319 | 2013-08-06 |
List of references:
Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
Rubén Cabanillas, Juan Cadiñanos, José A F Villameytide, Mercedes Pérez, Jesús Longo, José M Richard, Rebeca Alvarez, Noelia S Durán, Rafael Illán, Daniel J González, Carlos López-Otín,
American journal of medical genetics. Part A - Nov 2011