MCID: ADL002
MIFTS: 41

Adult Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories

Summaries for Adult Syndrome

About this section
Sources:
9Disease Ontology, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Disease Ontology:9 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:48 103285

Aliases & Classifications for Adult Syndrome

About this section
Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
adult syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

adult syndrome 9 10 44 21 23 48 11 46 50 63
acro-dermato-ungual-lacrimal-tooth syndrome 9 44 50
acro dermato ungual lacrimal tooth syndrome 44
pigment anomaly - ectrodactyly - hypodontia 50


External Ids:

Disease Ontology9 DOID:0050601
OMIM48 103285
MESH via Orphanet37 C538052
ICD10 via Orphanet27 Q87.2
UMLS via Orphanet64 C1863204
ICD1026 M83.9

Related Diseases for Adult Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

103285

Clinical features from OMIM:

103285

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Adult Syndrome

Drug clinical trials:

Search ClinicalTrials for Adult Syndrome

Search NIH Clinical Center for Adult Syndrome

Search CenterWatch for Adult Syndrome

Genetic Tests for Adult Syndrome

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Adult Syndrome:

id Genetic test Affiliating Genes
1 Adult Syndrome21 23 TP63

Anatomical Context for Adult Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Adult Syndrome:

34
Breast, Skin, Eye, Bone

Animal Models for Adult Syndrome or affiliated genes

About this section

Publications for Adult Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Adult Syndrome:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Adult Syndrome

About this section

GO Terms for genes affiliated with Adult Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adult Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet