Category
page 1Progeroid syndromes

progeria
Progeria (also Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome; HGPS) is a type of progeroid syndrome. A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complication
xeroderma pigmentosum
autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair
Werner syndrome
Lethal autosomal recessive disorder
Bloom syndrome
rare genetic disorder with short strature and predisposition to cancer
Cockayne syndrome
rare and fatal autosomal recessive neurodegenerative disorder
Rothmund-Thomson syndrome
human disease

Wiedemann-Rautenstrauch syndrome
very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism
dyskeratosis congenita
rare progressive congenital disorder with a highly variable phenotype
trichothiodystrophy syndromes
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBID
progeroid syndrome
range of genetic disorders which cause a person to appear to grow older faster
De Barsy syndrome
human disease
PRELP
Prolargin is a protein that in humans is encoded by the PRELP gene.