MCID: ADL002
MIFTS: 42

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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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 based summary: Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to cleft palate and eec syndrome, and has symptoms including anomalies of eyelids, eyelashes and lacrimal system, anomalies of teeth and dentition and syndactyly of fingers/interdigital palm. An important gene associated with Adult Syndrome is TP63 (tumor protein p63). Affiliated tissues include breast, skin and eye.

Description from OMIM:46 103285

Aliases & Classifications for Adult Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Adult Syndrome, Aliases & Descriptions:

Name: Adult Syndrome 8 9 42 20 22 46 10 44 48 62
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 8 42 48 62
 
Acro Dermato Ungual Lacrimal Tooth Syndrome 42
Pigment Anomaly - Ectrodactyly - Hypodontia 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
adult syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:0050601
OMIM46 103285
MESH via Orphanet35 C538052
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet63 C1863204
ICD1025 M83.9

Related Diseases for Adult Syndrome

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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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Symptoms by clinical synopsis from OMIM:

103285

Clinical features from OMIM:

103285

Symptoms:

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

HPO human phenotypes related to Adult Syndrome:

(show all 46)
id Description Frequency HPO Source Accession
1 abnormality of the eye hallmark (90%) HP:0000478
2 dry skin hallmark (90%) HP:0000958
3 thin skin hallmark (90%) HP:0000963
4 melanocytic nevus hallmark (90%) HP:0000995
5 abnormality of the fingernails hallmark (90%) HP:0001231
6 freckling hallmark (90%) HP:0001480
7 toe syndactyly hallmark (90%) HP:0001770
8 split foot hallmark (90%) HP:0001839
9 fine hair hallmark (90%) HP:0002213
10 finger syndactyly hallmark (90%) HP:0006101
11 abnormality of the toenail hallmark (90%) HP:0008388
12 skin ulcer hallmark (90%) HP:0200042
13 alopecia typical (50%) HP:0001596
14 abnormality of dental morphology typical (50%) HP:0006482
15 aplasia/hypoplasia of the nipples typical (50%) HP:0006709
16 breast aplasia typical (50%) HP:0100783
17 prominent nasal bridge occasional (7.5%) HP:0000426
18 autosomal dominant inheritance HP:0000006
19 oral cleft HP:0000202
20 conjunctivitis HP:0000509
21 nasolacrimal duct obstruction HP:0000579
22 hypodontia HP:0000668
23 oligodontia HP:0000677
24 microdontia HP:0000691
25 dry skin HP:0000958
26 thin skin HP:0000963
27 eczema HP:0000964
28 ectodermal dysplasia HP:0000968
29 cutaneous photosensitivity HP:0000992
30 split hand HP:0001171
31 freckling HP:0001480
32 toe syndactyly HP:0001770
33 nail pits HP:0001803
34 split foot HP:0001839
35 sparse scalp hair HP:0002209
36 sparse axillary hair HP:0002215
37 fair hair HP:0002286
38 alopecia of scalp HP:0002293
39 hypoplastic nipples HP:0002557
40 absent nipples HP:0002561
41 breast hypoplasia HP:0003187
42 dermal atrophy HP:0004334
43 premature loss of permanent teeth HP:0006357
44 wide intermamillary distance HP:0006610
45 adermatoglyphia HP:0007455
46 scalp hair loss HP:0200115

Drugs & Therapeutics for Adult Syndrome

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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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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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MalaCards organs/tissues related to Adult Syndrome:

32
Breast, Skin, Eye, Bone

Animal Models for Adult Syndrome or affiliated genes

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Publications for Adult Syndrome

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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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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:

6
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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Expression patterns in normal tissues for genes affiliated with Adult Syndrome

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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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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
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Sources for Adult Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet