ADULT SYNDROME
MCID: ADL002
MIFTS: 55

Adult Syndrome (ADULT SYNDROME)

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

Aliases & Classifications for Adult Syndrome

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 58 12 77 54 60 76 38 30 13 56 6 15 74
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 58 12 54 60 76
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 60
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 30
Acro Dermato Ungual Lacrimal Tooth Syndrome 54
Syndrome, Adult 41
Adult 17

Characteristics:

Orphanet epidemiological data:

60
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
adult syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adult Syndrome

UniProtKB/Swiss-Prot : 76 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 beckwith-wiedemann syndrome and hypertension, essential, 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 Cardiac Progenitor Differentiation and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include bone, kidney and heart, and related phenotypes are finger syndactyly and thin skin

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.

NIH Rare Diseases : 54 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.

Wikipedia : 77 Acro–dermato–ungual–lacrimal–tooth syndrome is a rare genetic disease. ADULT syndrome is an autosomal... more...

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 top 50) (show all 4529)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 31.6 IGF2 INS PHLDA2
2 hypertension, essential 31.6 HSD11B2 INS NR3C1
3 endogenous depression 31.5 INS NR3C1
4 osteochondrosis 30.2 IGF2 NR3C1
5 hyperinsulinemic hypoglycemia 29.8 IGF2 INS
6 spastic paraplegia 17, autosomal dominant 29.2 GRB10 IGF2
7 hypoglycemic coma 29.1 IGF2 INS
8 fetal macrosomia 29.0 IGF2 INS
9 hypokalemia 29.0 HSD11B2 NR3C1
10 islet cell tumor 29.0 IGF2 INS
11 hyperaldosteronism, familial, type i 29.0 HSD11B2 NR3C1
12 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.3
13 citrullinemia, type ii, adult-onset 12.3
14 neutropenia, nonimmune chronic idiopathic, of adults 12.3
15 hypophosphatasia, adult 12.3
16 cataract 13 with adult i phenotype 12.3
17 adult neuronal ceroid lipofuscinosis 12.3
18 epilepsy, familial adult myoclonic, 1 12.3
19 epilepsy, familial adult myoclonic, 6 12.2
20 epilepsy, familial adult myoclonic, 7 12.2
21 lactose intolerance, adult type 12.2
22 epilepsy, familial adult myoclonic, 2 12.2
23 adult acute monocytic leukemia 12.2
24 ataxia and polyneuropathy, adult-onset 12.2
25 adult-onset nemaline myopathy 12.2
26 adult teratoma 12.2
27 epilepsy, familial adult myoclonic, 5 12.2
28 adult cystic teratoma 12.1
29 cystinosis, adult nonnephropathic 12.1
30 b-cell adult acute lymphocytic leukemia 12.1
31 primary lateral sclerosis, adult, 1 12.1
32 adult acute lymphocytic leukemia 12.1
33 adult endodermal sinus tumor 12.1
34 benign adult familial myoclonic epilepsy 12.1
35 adult hepatocellular carcinoma 12.1
36 adult oligodendroglioma 12.1
37 adult medulloblastoma 12.1
38 t-cell adult acute lymphocytic leukemia 12.1
39 adult central nervous system choriocarcinoma 12.1
40 adult central nervous system embryonal carcinoma 12.1
41 adult dermatomyositis 12.1
42 macular dystrophy, vitelliform, 3 12.0
43 adult astrocytic tumour 12.0
44 reducing body myopathy, x-linked 1b, with late childhood or adult onset 12.0
45 adult mesenchymal chondrosarcoma 12.0
46 adult myxoid chondrosarcoma 12.0
47 adult brain ependymoma 12.0
48 adult extraosseous osteosarcoma 12.0
49 adult lymphoma 12.0
50 adult fibrosarcoma 12.0

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



Diseases related to Adult Syndrome

Symptoms & Phenotypes for Adult Syndrome

Human phenotypes related to Adult Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
2 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
3 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
4 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
5 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
6 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
7 nasolacrimal duct obstruction 60 33 hallmark (90%) Very frequent (99-80%) HP:0000579
8 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
9 fingernail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100798
10 nail pits 60 33 hallmark (90%) Very frequent (99-80%) HP:0001803
11 freckling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001480
12 toenail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100797
13 split foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001839
14 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
15 sparse scalp hair 60 33 frequent (33%) Frequent (79-30%) HP:0002209
16 abnormality of dental morphology 60 33 frequent (33%) Frequent (79-30%) HP:0006482
17 hypoplastic nipples 60 33 frequent (33%) Frequent (79-30%) HP:0002557
18 breast hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003187
19 absent nipple 60 33 frequent (33%) Frequent (79-30%) HP:0002561
20 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
21 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
22 abnormality of the dentition 60 Very frequent (99-80%)
23 abnormality of the nail 60 Very frequent (99-80%)
24 microdontia 33 HP:0000691
25 wide intermamillary distance 33 HP:0006610
26 abnormality of the face 60 Occasional (29-5%)
27 conjunctivitis 33 HP:0000509
28 split hand 33 HP:0001171
29 eczema 33 HP:0000964
30 hypodontia 33 HP:0000668
31 cutaneous photosensitivity 33 HP:0000992
32 oral cleft 33 HP:0000202
33 oligodontia 33 HP:0000677
34 sparse axillary hair 33 HP:0002215
35 ectodermal dysplasia 33 HP:0000968
36 dermal atrophy 33 HP:0004334
37 alopecia of scalp 33 HP:0002293
38 fair hair 33 HP:0002286
39 adermatoglyphia 33 HP:0007455
40 premature loss of permanent teeth 33 HP:0006357

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
thin skin
dry 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

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 ALG2 GRB10 HSD11B2 IGF2 INS NR3C1
2 digestive/alimentary MP:0005381 9.73 DHRS3 HSD11B2 IGF2 INS NR3C1 TP63
3 embryo MP:0005380 9.63 DHRS3 GRB10 IGF2 INS PHLDA2 TP63
4 muscle MP:0005369 9.43 GRB10 HSD11B2 IGF2 INS NR3C1 TP63
5 renal/urinary system MP:0005367 9.02 HSD11B2 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 Not Applicable

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 30 TP63
2 Acro-Dermato-Ungual-Lacrimal-Tooth (adult) Syndrome 30

Anatomical Context for Adult Syndrome

MalaCards organs/tissues related to Adult Syndrome:

42
Bone, Kidney, Heart, Brain, Breast, Skin, T Cells

Publications for Adult Syndrome

Articles related to Adult Syndrome:

(show all 29)
# Title Authors Year
1
ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation. ( 30656674 )
2019
2
ADULT (acro-dermato-ungual-lacrimal-tooth) Syndrome: A Case Report from India. ( 29854643 )
2018
3
ADULT syndrome: dental features of a very rare condition. ( 28691455 )
2017
4
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
5
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. ( 27469932 )
2016
6
Shaken adult syndrome: report of 2 cases. ( 24077385 )
2013
7
ADULT syndrome due to an R243W mutation in TP63. ( 22607287 )
2012
8
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. ( 21204238 )
2011
9
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. ( 20814947 )
2010
10
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
11
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. ( 19530185 )
2009
12
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome. ( 19781362 )
2009
13
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. ( 18603493 )
2008
14
Acro-dermato-ungual-lacrimal-tooth syndrome: case report. ( 17531133 )
2007
15
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? ( 17431922 )
2007
16
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. ( 16724007 )
2006
17
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. ( 16929068 )
2006
18
Further phenotypic and genetic variation in ADULT syndrome. ( 17041931 )
2006
19
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
20
Shaken adult syndrome revisited. ( 12960674 )
2003
21
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. ( 11929852 )
2002
22
TP63 gene mutation in ADULT syndrome. ( 11528512 )
2001
23
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. ( 11462173 )
2001
24
Domestic violence: the shaken adult syndrome. ( 10718242 )
2000
25
ADULT syndrome allelic to limb mammary syndrome (LMS)? ( 10607963 )
2000
26
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. ( 9443880 )
1998
27
Shaken adult syndrome. ( 9430280 )
1997
28
EEC syndrome and genitourinary anomalies: an update. ( 8737655 )
1996
29
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:

76
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg337Gln VAR_020875 rs113993967

ClinVar genetic disease variations for Adult Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.1963delC (p.Arg655Glufs) deletion Pathogenic rs797044843 GRCh38 Chromosome 3, 189894422: 189894422
2 TP63 NM_003722.4(TP63): c.1963delC (p.Arg655Glufs) deletion Pathogenic rs797044843 GRCh37 Chromosome 3, 189612211: 189612211
3 TP63 NM_003722.4(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 GRCh38 Chromosome 3, 189808465: 189808465
4 TP63 NM_003722.4(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 GRCh37 Chromosome 3, 189526254: 189526254
5 TP63 NM_003722.4(TP63): c.1846delC (p.Leu616Serfs) deletion Pathogenic rs113993964 GRCh38 Chromosome 3, 189894305: 189894305
6 TP63 NM_003722.4(TP63): c.1846delC (p.Leu616Serfs) deletion Pathogenic rs113993964 GRCh37 Chromosome 3, 189612094: 189612094
7 TP63 TP63, PRO127LEU single nucleotide variant Pathogenic
8 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh38 Chromosome 3, 189866712: 189866712
9 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
10 TP63 NM_003722.4(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 GRCh38 Chromosome 3, 189868596: 189868596
11 TP63 NM_003722.4(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 GRCh37 Chromosome 3, 189586385: 189586385
12 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh38 Chromosome 3, 189868641: 189868641
13 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
14 TP63 TP63, VAL114MET single nucleotide variant Pathogenic
15 TP63 NM_003722.4(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 GRCh38 Chromosome 3, 189868597: 189868597
16 TP63 NM_003722.4(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 GRCh37 Chromosome 3, 189586386: 189586386
17 TP63 NM_001114982.1(TP63): c.16A> C (p.Asn6His) single nucleotide variant Pathogenic rs113993963 GRCh38 Chromosome 3, 189789816: 189789816
18 TP63 NM_001114982.1(TP63): c.16A> C (p.Asn6His) single nucleotide variant Pathogenic rs113993963 GRCh37 Chromosome 3, 189507605: 189507605
19 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh38 Chromosome 3, 189864379: 189864379
20 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh37 Chromosome 3, 189582168: 189582168

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 10.98 IGF2 INS
2 10.8 INS NR3C1
3 10.59 GRB10 INS
4 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 steroid binding GO:0005496 9.16 HSD11B2 NR3C1
2 insulin-like growth factor receptor binding GO:0005159 8.96 IGF2 INS
3 insulin receptor binding GO:0005158 8.8 GRB10 IGF2 INS

Sources for Adult Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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