MCID: ADL002
MIFTS: 41

Adult Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories
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Summaries for Adult Syndrome

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Sources:
8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 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.

MalaCards: Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to cleft palate and eec syndrome, and has symptoms including alopecia, tooth shape anomaly and excessive freckling. An important gene associated with Adult Syndrome is TP63 (tumor protein p63). Affiliated tissues include breast, skin and eye.

Description from OMIM:47 103285

Aliases & Classifications for Adult Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
adult syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

adult syndrome 8 9 43 20 22 47 10 45 49 62
acro-dermato-ungual-lacrimal-tooth syndrome 8 43 49
acro dermato ungual lacrimal tooth syndrome 43
pigment anomaly - ectrodactyly - hypodontia 49


External Ids:

Disease Ontology8 DOID:0050601
OMIM47 103285
MESH via Orphanet36 C538052
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet63 C1863204
ICD1025 M83.9

Related Diseases for Adult Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Adult Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cleft palate9.8
2eec syndrome9.8
3limb-mammary syndrome9.8
4ulnar-mammary syndrome9.8
5adermatoglyphia9.8

Graphical network of diseases related to Adult Syndrome:



Diseases related to adult syndrome

Symptoms for Adult Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

103285

Clinical features from OMIM:

103285

Symptoms:

49 (show all 22)
  • alopecia
  • tooth shape anomaly
  • excessive freckling
  • oligodactyly/ectrodactyly of toes
  • syndactyly of toes
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • breast tissue/mammary gland absence/aplasia
  • fine hair
  • face/facial anomalies
  • pigmented naevi/naevus pigmentosus/lentigo
  • broad nose/nasal bridge
  • anomalies of teeth and dentition
  • nails anomalies
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • thin skin
  • hypoplastic/absent nipples
  • anomalies of eyelids, eyelashes and lacrimal system
  • high nasal bridge
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • syndactyly of fingers/interdigital palm

Drugs & Therapeutics for Adult Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Adult Syndrome

Search NIH Clinical Center for Adult Syndrome

Genetic Tests for Adult Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Adult Syndrome:

id Genetic test Affiliating Genes
1 Adult Syndrome20 22 TP63

Anatomical Context for Adult Syndrome

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Sources:
33MalaCards
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MalaCards organs/tissues related to Adult Syndrome:

33
Breast, Skin, Eye, Bone

Animal Models for Adult Syndrome or affiliated genes

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Publications for Adult Syndrome

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Sources:
52PubMed
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Articles related to Adult Syndrome:

(show all 19)
idTitleAuthorsYear
1
Shaken adult syndrome: report of 2 cases. (24077385)
2013
2
ADULT syndrome due to an R243W mutation in TP63. (22607287)
2012
3
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. (22069181)
2011
4
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. (21990121)
2011
5
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
6
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. (20814947)
2010
7
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. (19781362)
2009
8
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. (19530185)
2009
9
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. (16724007)
2006
10
Further phenotypic and genetic variation in ADULT syndrome. (17041931)
2006
11
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. (16929068)
2006
12
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. (16114047)
2005
13
Shaken adult syndrome revisited. (12960674)
2003
14
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. (11929852)
2002
15
TP63 gene mutation in ADULT syndrome. (11528512)
2001
16
ADULT syndrome allelic to limb mammary syndrome (LMS)? (10607963)
2000
17
Domestic violence: the shaken adult syndrome. (10718242)
2000
18
Shaken adult syndrome. (9430280)
1997
19
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. (8456838)
1993

Variations for Adult Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Adult Syndrome:

64
id Symbol AA change Variation ID SNP ID
1TP63p.Arg337GlnVAR_020875

Clinvar genetic disease variations for Adult Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP63NM_003722.4(TP63): c.1846delC (p.Leu616Serfs)deletionPathogenicrs113993964GRCh37Chr 3, 189612094: 189612094
2TP63NM_003722.4(TP63): c.518G> A (p.Gly173Asp)single nucleotide variantPathogenicrs113993965GRCh37Chr 3, 189526254: 189526254
3TP63NM_001114982.1(TP63): c.16A> C (p.Asn6His)single nucleotide variantPathogenicrs113993963GRCh37Chr 3, 189507605: 189507605
4TP63NM_003722.4(TP63): c.1010G> A (p.Arg337Gln)single nucleotide variantPathogenicrs113993967GRCh37Chr 3, 189586386: 189586386
5TP63TP63, VAL114METsingle nucleotide variantPathogenic
6TP63NM_003722.4(TP63): c.1009C> G (p.Arg337Gly)single nucleotide variantPathogenicrs113993966GRCh37Chr 3, 189586385: 189586385
7TP63NM_003722.4(TP63): c.797G> A (p.Arg266Gln)single nucleotide variantPathogenicrs121908849GRCh37Chr 3, 189584501: 189584501
8TP63TP63, PRO127LEUsingle nucleotide variantPathogenic

Expression for genes affiliated with Adult Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adult Syndrome

Search GEO for disease gene expression data for Adult Syndrome.

Pathways for genes affiliated with Adult Syndrome

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Compounds for genes affiliated with Adult Syndrome

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GO Terms for genes affiliated with Adult Syndrome

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Sources:
16Gene Ontology
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Biological processes related to Adult Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apoptotic processGO:0069159.5PHLDA2, TP63

Products for genes affiliated with Adult Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adult Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet