View phenotypes for disease #00009

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Phenotype details: Additional information on the phenotype of the individual.

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
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Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Complex

12 entries on 1 page. Showing entries 1 - 12.

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Phenotype ID	Phenotype details	Inheritance	Owner	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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