Disease #05375 (progeroid (progeroid syndrome (premature aging)))

Official abbreviation progeroid
Name progeroid syndrome (premature aging)
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 7
Associated with 1 gene MDM2
Associated tissues -
Disease features -
Remarks -
Date created 2018-01-12 16:46:58 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00132618 PatCALIF1010 PubMed: Mori 2018 - F no United States - - - - - progeroid see paper; ... ERCC4 ERCC4 2 1 Junko Oshima
00132619 PatMME1010 PubMed: Mori 2018 - F no Mexico - - - - - progeroid see paper; ..., 54y-bilateral cataracts , tight atrophic skin: 30y-graying and thinning of hair; type II diabetes mellitus, osteoporosis, overall aged appearance; 68y-height 162 cm, weight 40 kg; 56y-papillary thyroid cancer; no cognitive impairment, no sun sensitivity; sister possibly affected ERCC4 ERCC4 2 1 Junko Oshima
00150130 28846075-FamPatIV7 PubMed: Lessel 2017 4-generation family, 3 affecteds, (2F, M), unaffected heterozygous carrier parents, patient IV.7 M yes Saudi Arabia - - - - - progeroid see paper; ..., affected by a segmental progeroid syndrome - MDM2 1 1 Davor Lessel
00222778 Pat1 PubMed: Marbach 2019, Journal: Marbach 2019 - M - Germany - - - - - progeroid see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; short stature, low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay - LEMD2 1 1 Davor Lessel
00222781 Pat2 PubMed: Marbach 2019, Journal: Marbach 2019 - M - Norway - - - - - progeroid see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; no short stature (32th percentile, growth hormone treatment), no low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; no intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay - LEMD2 1 1 Davor Lessel
00245067 1 - - - no Canada French-Canadian - - - - progeroid progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) POLR3GL POLR3GL 1 1 Philippe Campeau
00306176 PatXP51RO PubMed: Niedernhofer 2006 - M - Afghanistan - - - - - progeroid see paper; ..., frequent sunburns, unique combination of progeroid symptoms, neurologic; hepatobiliary, musculoskeletal and haematopoietic symptoms ERCC4 ERCC4 1 1 Johan den Dunnen
00436422 - PubMed: Forouzandeh 2016 - - - - - - - - - progeroid - LMNA LMNA 1 1 Matheus Wilke
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