MCID: ADL002
MIFTS: 48

Adult Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Adult Syndrome

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 53 12 72 72 49 55 71 36 28 13 51 14 69
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 53 12 49 55 71
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 55
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 28
Acro Dermato Ungual Lacrimal Tooth Syndrome 49
Acrodermatounguallacrimaltooth Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
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:

31
adult syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adult Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/1/2016

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, finger syndactyly and wide nasal bridge. 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 cellular and digestive/alimentary

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.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 103285

Related Diseases for Adult Syndrome

Diseases related to Adult Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 29.7 SATB2 TP63
2 limb-mammary syndrome 10.9
3 ectodermal dysplasia 10.5
4 cleft lip/palate-ectodermal dysplasia syndrome 10.4 SATB2 TP63
5 hemifacial microsomia 10.4 BRF1 SATB2
6 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.4 SATB2 TP63
7 rapp-hodgkin syndrome 10.4 SATB2 TP63
8 van der woude syndrome 1 10.3 BRF1 SATB2
9 periosteal osteogenic sarcoma 10.3 IGF2 SATB2
10 juxtacortical osteosarcoma 10.3 IGF2 SATB2
11 hypoglycemic coma 10.3 IGF2 INS
12 type 1 diabetes mellitus 2 10.3 IGF2 INS
13 hyperinsulinemic hypoglycemia, familial, 2 10.3 IGF2 INS
14 split-hand/foot malformation 4 10.2 SATB2 TP63
15 fetal macrosomia 10.2 IGF2 INS
16 islet cell tumor 10.2 IGF2 INS
17 rubeosis iridis 10.2 IGF2 INS
18 osteochondrosis 10.1 IGF2 NR3C1
19 meninges hemangiopericytoma 10.1 IGF2 INS
20 endocrine pancreas disease 10.1 IGF2 INS
21 beckwith-wiedemann syndrome 10.0 IGF2 INS PHLDA2
22 pancreas disease 10.0 IGF2 INS
23 lacrimoauriculodentodigital syndrome 9.9 SATB2 TP63
24 hyperaldosteronism, familial, type i 9.8 HSD11B2 NR3C1
25 corticosteroid-binding globulin deficiency 9.8 HSD11B2 NR3C1
26 adrenal cortex disease 9.8 HSD11B2 NR3C1
27 adrenal gland disease 9.8 HSD11B2 NR3C1
28 apparent mineralocorticoid excess 9.8 HSD11B2 NR3C1
29 ocular hypertension 9.5 HSD11B2 NR3C1
30 hypertension, essential 9.4 HSD11B2 INS NR3C1
31 cleft palate, isolated 9.2
32 adermatoglyphia 9.2
33 lacrimal duct defect 9.2
34 ulnar-mammary syndrome 9.2
35 anus, imperforate 9.2
36 nail disorder, nonsyndromic congenital, 9 9.2

Graphical network of the top 20 diseases related to Adult Syndrome:



Diseases related to Adult Syndrome

Symptoms & Phenotypes for Adult Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
dry skin
thin skin
freckling
ectodermal dysplasia
adermatoglyphia
more
Head And Neck Teeth:
hypodontia
oligodontia
small teeth
dysplastic teeth
premature loss of secondary teeth (<25 years)

Skeletal Hands:
ectrodactyly
syndactyly

Skin Nails Hair Nails:
nail pits
dysplastic nails

Head And Neck Eyes:
conjunctivitis
lacrimal duct obstruction

Chest Breasts:
hypoplastic nipples
breast hypoplasia
mammary gland hypoplasia
widely spaced nipples
absent nipples

Skeletal Feet:
ectrodactyly
syndactyly

Skin Nails Hair Hair:
sparse axillary hair
blond hair
thin scalp hair
premature scalp hair loss (>30 years)


Clinical features from OMIM:

103285

Human phenotypes related to Adult Syndrome:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006101
3 wide nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000431
4 thin skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000963
5 melanocytic nevus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000995
6 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
7 skin ulcer 55 31 hallmark (90%) Very frequent (99-80%) HP:0200042
8 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
9 sparse scalp hair 55 31 frequent (33%) Frequent (79-30%) HP:0002209
10 fine hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002213
11 abnormality of dental morphology 55 31 frequent (33%) Frequent (79-30%) HP:0006482
12 nasolacrimal duct obstruction 55 31 hallmark (90%) Very frequent (99-80%) HP:0000579
13 toe syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001770
14 hypoplastic nipples 55 31 frequent (33%) Frequent (79-30%) HP:0002557
15 fingernail dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100798
16 nail pits 55 31 hallmark (90%) Very frequent (99-80%) HP:0001803
17 freckling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001480
18 toenail dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100797
19 breast hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0003187
20 split foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001839
21 absent nipple 55 31 frequent (33%) Frequent (79-30%) HP:0002561
22 abnormality of the dentition 55 Very frequent (99-80%)
23 abnormality of the nail 55 Very frequent (99-80%)
24 microdontia 31 HP:0000691
25 wide intermamillary distance 31 HP:0006610
26 abnormality of the face 55 Occasional (29-5%)
27 conjunctivitis 31 HP:0000509
28 split hand 31 HP:0001171
29 eczema 31 HP:0000964
30 hypodontia 31 HP:0000668
31 cutaneous photosensitivity 31 HP:0000992
32 oral cleft 31 HP:0000202
33 oligodontia 31 HP:0000677
34 sparse axillary hair 31 HP:0002215
35 ectodermal dysplasia 31 HP:0000968
36 dermal atrophy 31 HP:0004334
37 alopecia of scalp 31 HP:0002293
38 fair hair 31 HP:0002286
39 adermatoglyphia 31 HP:0007455
40 premature loss of permanent teeth 31 HP:0006357

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 ALG2 HSD11B2 IFT80 IGF2 INS NR3C1
2 digestive/alimentary MP:0005381 9.43 HSD11B2 IGF2 INS NR3C1 SATB2 TP63
3 renal/urinary system MP:0005367 9.1 HSD11B2 IFT80 IGF2 INS NR3C1 TP63

Drugs & Therapeutics for Adult Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Feasibility of Upright Bed Position in ARDS Patients Completed NCT02160561

Search NIH Clinical Center for Adult Syndrome

Genetic Tests for Adult Syndrome

Genetic tests related to Adult Syndrome:

# Genetic test Affiliating Genes
1 Adult Syndrome 28 TP63
2 Acro-Dermato-Ungual-Lacrimal-Tooth (adult) Syndrome 28

Anatomical Context for Adult Syndrome

MalaCards organs/tissues related to Adult Syndrome:

38
Breast, Skin, Bone, Eye

Publications for Adult Syndrome

Articles related to Adult Syndrome:

(show all 21)
# Title Authors Year
1
ADULT syndrome: dental features of a very rare condition. ( 28691455 )
2017
2
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
3
Shaken adult syndrome: report of 2 cases. ( 24077385 )
2013
4
ADULT syndrome due to an R243W mutation in TP63. ( 22607287 )
2012
5
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes. ( 22069181 )
2011
6
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
7
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. ( 20814947 )
2010
8
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
9
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. ( 19781362 )
2009
10
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. ( 19530185 )
2009
11
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. ( 16929068 )
2006
12
Further phenotypic and genetic variation in ADULT syndrome. ( 17041931 )
2006
13
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. ( 16724007 )
2006
14
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
15
Shaken adult syndrome revisited. ( 12960674 )
2003
16
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. ( 11929852 )
2002
17
TP63 gene mutation in ADULT syndrome. ( 11528512 )
2001
18
ADULT syndrome allelic to limb mammary syndrome (LMS)? ( 10607963 )
2000
19
Domestic violence: the shaken adult syndrome. ( 10718242 )
2000
20
Shaken adult syndrome. ( 9430280 )
1997
21
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. ( 8456838 )
1993

Variations for Adult Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg337Gln VAR_020875 rs113993967

ClinVar genetic disease variations for Adult Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.1846delC (p.Leu616Serfs) deletion Pathogenic rs113993964 GRCh37 Chromosome 3, 189612094: 189612094
2 TP63 NM_003722.4(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 GRCh37 Chromosome 3, 189526254: 189526254
3 TP63 NM_001114982.1(TP63): c.16A> C (p.Asn6His) single nucleotide variant Pathogenic rs113993963 GRCh37 Chromosome 3, 189507605: 189507605
4 TP63 NM_003722.4(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 GRCh37 Chromosome 3, 189586386: 189586386
5 TP63 TP63, VAL114MET single nucleotide variant Pathogenic
6 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
7 TP63 NM_003722.4(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 GRCh37 Chromosome 3, 189586385: 189586385
8 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
9 TP63 TP63, PRO127LEU single nucleotide variant Pathogenic
10 TP63 NM_003722.4(TP63): c.1963delC (p.Arg655Glufs) deletion Pathogenic rs797044843 GRCh37 Chromosome 3, 189612211: 189612211

Expression for Adult Syndrome

Search GEO for disease gene expression data for Adult Syndrome.

Pathways for Adult Syndrome

Pathways related to Adult Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 INS NR3C1
2 10.19 HSD11B2 INS

GO Terms for Adult Syndrome

Biological processes related to Adult Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of mitotic nuclear division GO:0045840 9.16 IGF2 INS
2 positive regulation of glycogen biosynthetic process GO:0045725 8.96 IGF2 INS
3 positive regulation of insulin receptor signaling pathway GO:0046628 8.62 IGF2 INS

Molecular functions related to Adult Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.16 IGF2 INS
2 steroid binding GO:0005496 8.96 HSD11B2 NR3C1
3 insulin-like growth factor receptor binding GO:0005159 8.62 IGF2 INS

Sources for Adult Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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