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ADULT SYNDROME
MCID: ADL002
MIFTS: 49
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Adult Syndrome (ADULT SYNDROME)
Categories:
Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases
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MalaCards integrated aliases for Adult Syndrome:
Characteristics:Orphanet epidemiological data:59
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
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, ) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases Skin diseases Oral diseases
ICD10:
34
33
Orphanet: 59
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
External Ids:
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UniProtKB/Swiss-Prot
:
75
Acro-dermato-ungual-lacrimal-tooth syndrome: 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 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 and limb-mammary syndrome, 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 FOXA2 and FOXA3 transcription factor networks and Aldosterone-regulated sodium reabsorption. Affiliated tissues include breast, skin and bone, and related phenotypes are finger syndactyly and wide nasal bridge NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 978Disease definitionADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) 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.Visit the Orphanet disease page for more resources. Disease Ontology : 12 An autosomal dominant disease 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. Wikipedia : 76 Acro–dermato–ungual–lacrimal–tooth (ADULT) syndrome is a rare genetic disease. ADULT syndrome is an... more...
Description from OMIM:
103285
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:103285Human phenotypes related to Adult Syndrome:59 32 (show all 40)
UMLS symptoms related to Adult Syndrome:dry skin MGI Mouse Phenotypes related to Adult Syndrome:46
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Interventional clinical trials:
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MalaCards organs/tissues related to Adult Syndrome:41
Breast,
Skin,
Bone,
Eye
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Articles related to Adult Syndrome:(show all 21)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Adult Syndrome:75
ClinVar genetic disease variations for Adult Syndrome:6
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Search
GEO
for disease gene expression data for Adult Syndrome.
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Biological processes related to Adult Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Adult Syndrome according to GeneCards Suite gene sharing:
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