View phenotypes for disease #00009

12 entries on 1 page. Showing entries 1 - 12.
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Individual ID     
0000000138 Mother affected with EB has compound heterozygous mutations in COL17A1: a 25bp duplication (frameshift) described as "3514ins25" in the article and the c.1880G>T mutation. Both children have AI and have inherited the c.1880G>T mutation Familial, autosomal dominant Claire Smith 00000134
0000000139 "Enamel defects" pits and grooves to the surface of the front of the tooth. Affected son with EB carries compound heterozygous mutations in COL17A1 - c.433C>T, p.R145* inherited from mother and c.2003G>A, p.G633D inherited from father. Both mother and father have "carious lesions", but the author is unsure whether this is relate the mutations that they carry. Daughter carries c.433C>T, p.R145* but her phenotype is not described. Familial, autosomal dominant Claire Smith 00000135
0000000140 "Dental abnormalities" affected male with EB is compound heterozygous for c.3676C>T, p.R1226* (See variant #00000133) and c.1826G>A, p.G609D. Mother carries c.1826G>A, p.G609D. Familial, autosomal dominant Claire Smith 00000136
0000000141 "Dental abnormalities". Male child with EB is homozygous for c.1834G>A, p.G612R variant. Parents both heterozygous. Familial, autosomal dominant Claire Smith 00000137
0000000142 "Dental anomalies" Female child with EB homozygous for variant. Both parents heterozygotes. Father described as affected with "dental anomalies". Familial, autosomal dominant Claire Smith 00000138
0000000163 enamel pitting of secondary dentition and no history of skin blistering Familial, autosomal dominant Henny Lemmink 00000159
0000000164 enamel pitting and grooves in some of her secondary dentition. Skin fragility was absent Familial, autosomal dominant Henny Lemmink 00000160
0000000168 Normal thickness of scalp hair at birth but easy to pluck, progressive hair loss and thinning started at ages 10–12 years. All had sparse eyebrows and eyelashes, and early-onset skin aging with deeply set facial wrinkles, progeroid appearance. Poor speech, memory, aggressive and/or lacked the concept of danger or fear. Mild-to-moderate intellectual disability (IQ 53–61). Dental plaques, calculi and gingival recession - one had no teeth others had yellowish-brown tooth stains. The lateral maxillary incisors of one were super-erupted and protruded anteriorly. For another, alignment of maxillary teeth was normal, but the mandibular incisors and canines were badly aligned and had rough enamel surfaces. Familial, autosomal recessive Claire Smith 00000164
0000000191 Atopic dermatitis (eyelids, the arms and legs) and tangled hair since early childhood. Repeated dental problems, most recently a gum abscess. A panorama x-ray of dentition revealed enlarged pulp chambers (taurodontism) as well as enamel hypoplasia. Pointed conical canine teeth (upper jaw). Unknown Claire Smith 00000187
0000000195 Teeth appeared small and varied between areas of opaque white enamel with yellow-brown discolourations to teeth that were very yellow brown in colouration. Small tooth size gave an appearance of increased tooth spacing in most cases. Two affecteds had abnormal second mandibular and maxillary molars that were heart-shaped with only three major cusps. Radiographically, teeth had a decreased enamel thickness and an increased pulp chamber dimension. The molar teeth had varying degrees of apical displacement of the root furcation resulting in taurodontism. Molar taurodontism ranged from normal (cynodont) to mesotaurodont morphology, none were hypertaurodont. One had essentially normal pulp morphology but had severely abnormal enamel and markedly yellow-brown discolouration of the teeth. Cephalometric radiographs showed no markedly increased bone density, obliteration of the diplöe or mastoid air cells, or frontal sinus. Affected adults statistically significant increase in spine BMD compared with unaffecteds. The increase in hip BMD was approaching a significant level (P = 0.08), whereas the total femur, femoral neck, wrist, and full body BMD did not show significant differences. Affecteds had coarse, unruly hair compared with the unaffecteds. Electron microscopy showed smaller diameter hair shafts compared with unaffecteds. Hair shafts in the affecteds frequently displayed abnormal shaft morphology with horizontal grooves. Familial, autosomal dominant Claire Smith 00000191
0000000197 Classified as TDO, other than that no details given as to phenotype. Further details may be included in Hart et al. 1997, Pubmed ID: 9361034 Familial, autosomal dominant Claire Smith 00000193
0000000198 All affected reported to have kinky/curly hair as infants, no unaffected subjects had kinky or curly hair. Marked osseous changes radiographically compared with the unaffected. Affected subjects also exhibited obliteration of diploe and a complete lack of visible mastoid pneumatisation. Osseous changes evident in proband, they were much more pronounced in mother. Proband had teeth with small clinical crowns and thin enamel. Radiographically, taurodontism was present in all the molars. Previously reported by Lichtenstein et al. 1972, PMID:5054226. Familial, autosomal dominant Claire Smith 00000194
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