ADULT SYNDROME
MCID: ADL002
MIFTS: 68
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Adult Syndrome (ADULT SYNDROME)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Adult Syndrome:
Characteristics:Inheritance:OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
adult is an acronym for acro-dermato-ungual-lacrimal-tooth allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (eec3, ) allelic disorder to limb-mammary syndrome (lms, ) allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (aec, ) allelic disorder to rapp-hodgkin syndrome (rhs, ) allelic disorder to split-hand/foot malformation 4 (shfm4, ) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases Skin diseases Oral diseases
ICD10:
32
Orphanet: 58
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UniProtKB/Swiss-Prot: 73 A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. MalaCards based summary: Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to alcohol use disorder and attention deficit-hyperactivity disorder, and has symptoms including dry skin An important gene associated with Adult Syndrome is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Gene expression (Transcription) and Metabolism of proteins. The drug D-Leucine has been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related phenotypes are dry skin and melanocytic nevus OMIM®: 57 ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth (summary by Reisler et al., 2006). (103285) (Updated 08-Dec-2022) Disease Ontology: 11 A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has material basis in a mutation in TP63. GARD: 19 A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Orphanet: 58 A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Wikipedia: 75 Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) is a rare genetic disease. It is an... more... |
Human phenotypes related to Adult Syndrome:58 30 (show all 40)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:103285 (Updated 08-Dec-2022)UMLS symptoms related to Adult Syndrome:dry skin GenomeRNAi Phenotypes related to Adult Syndrome according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Adult Syndrome:45 (show all 23)
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Drugs for Adult Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Organs/tissues related to Adult Syndrome:
MalaCards :
Skin,
Breast,
Bone,
Eye,
Bone Marrow,
Brain,
Spinal Cord
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Articles related to Adult Syndrome:(show top 50) (show all 30060)
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ClinVar genetic disease variations for Adult Syndrome:5
UniProtKB/Swiss-Prot genetic disease variations for Adult Syndrome:73
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Search
GEO
for disease gene expression data for Adult Syndrome.
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Pathways related to Adult Syndrome according to GeneCards Suite gene sharing:(show all 34)
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Biological processes related to Adult Syndrome according to GeneCards Suite gene sharing:(show all 35)
Molecular functions related to Adult Syndrome according to GeneCards Suite gene sharing:
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