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Disease Information for ADULT syndrome (3q27)

Disease Mechanism & Classification

Class

CLASS/Acronymic term disorder (ex)

CLASS/Pediatric disorders (ex)

Pathophysiology

Pathophysiology/Gene locus 3q27

Pathophysiology/Gene locus chromosome 3

Pathophysiology/Gene Locus chromosome 3q

Pathophysiology/Gene Locus Identified/OMIM database

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Pathophysiology/Maternal Chromosome mutation

Process

PROCESS/Autosomal dominant hereditary disease (ex).

PROCESS/Eponymic (category)

PROCESS/Eponymic/Esoteric/Not yet integrated into database

PROCESS/Genetic disorder/Spontaneous mutations/sporadic

PROCESS/Hereditary dominance/incomplete penetrance (ex).

PROCESS/Hereditofamilial (category)

PROCESS/INCIDENCE/Esoteric disease (example)

Definition

undr construction gene locus 3q27;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME or ADULT Syndrome; [A-D-U-L-T Syndrome or ADULTS]; Gene map locus 3 q 27;mutation in the TP63 gene; Family members were affected by a syndrome with variable expression, Features included ectrodactyly, (absent digits/rays/ulna) syndactyly, fingernail and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and loss of permanent teeth; Because of the phenotypic similarity with limb-mammary syndrome (LMS) which had been mapped to chromosome 3q27; studies placed the ADULT locus in the same chromosome region as the LMS locus, suggesting that these 2 conditions are allelic; a missense mutation in the TP63 gene, located at chromosome 3q27, in spontaneous germ cell mutation then the mutation was inherited with incomplete penetrance-----------------[OMIM]-----------------

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External Links Related to ADULT syndrome (3q27)

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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