ADULT SYNDROME
MCID: ADL002
MIFTS: 49

Adult Syndrome (ADULT SYNDROME)

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

Aliases & Classifications for Adult Syndrome

MalaCards integrated aliases for Adult Syndrome:

Name: Adult Syndrome 57 12 76 53 59 75 37 29 13 55 6 15 40 73
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 57 12 53 59 75
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome 59
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome 29
Acro Dermato Ungual Lacrimal Tooth Syndrome 53
Acrodermatounguallacrimaltooth Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
adult syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
adult syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adult Syndrome

UniProtKB/Swiss-Prot : 75 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 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 and limb-mammary syndrome, 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 FOXA2 and FOXA3 transcription factor networks and Aldosterone-regulated sodium reabsorption. Affiliated tissues include breast, skin and bone, and related phenotypes are finger syndactyly and wide nasal bridge

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Acro–dermato–ungual–lacrimal–tooth (ADULT) syndrome is a rare genetic disease. ADULT syndrome is an... 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 all 36)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 30.1 SATB2 TP63
2 limb-mammary syndrome 10.8
3 cleft lip/palate-ectodermal dysplasia syndrome 10.7 SATB2 TP63
4 hemifacial microsomia 10.7 BRF1 SATB2
5 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.7 SATB2 TP63
6 van der woude syndrome 1 10.6 BRF1 SATB2
7 rapp-hodgkin syndrome 10.6 SATB2 TP63
8 periosteal osteogenic sarcoma 10.5 IGF2 SATB2
9 type 1 diabetes mellitus 2 10.5 IGF2 INS
10 hypoglycemic coma 10.5 IGF2 INS
11 hyperinsulinemic hypoglycemia, familial, 2 10.5 IGF2 INS
12 juxtacortical osteosarcoma 10.5 IGF2 SATB2
13 ectodermal dysplasia 10.5
14 fetal macrosomia 10.4 IGF2 INS
15 split-hand/foot malformation 4 10.4 SATB2 TP63
16 islet cell tumor 10.3 IGF2 INS
17 rubeosis iridis 10.3 IGF2 INS
18 endocrine pancreas disease 10.2 IGF2 INS
19 osteochondrosis 10.2 IGF2 NR3C1
20 lacrimoauriculodentodigital syndrome 10.1 SATB2 TP63
21 pancreas disease 10.1 IGF2 INS
22 beckwith-wiedemann syndrome 10.1 IGF2 INS PHLDA2
23 hyperaldosteronism, familial, type i 10.1 HSD11B2 NR3C1
24 adrenal cortex disease 10.0 HSD11B2 NR3C1
25 adrenal gland disease 10.0 HSD11B2 NR3C1
26 apparent mineralocorticoid excess 10.0 HSD11B2 NR3C1
27 corticosteroid-binding globulin deficiency 10.0 HSD11B2 NR3C1
28 ocular hypertension 9.3 HSD11B2 NR3C1
29 hypertension, essential 9.3 HSD11B2 INS NR3C1
30 cleft palate, isolated 9.2
31 adermatoglyphia 9.2
32 lacrimal duct defect 9.2
33 ulnar-mammary syndrome 9.2
34 nail disorder, nonsyndromic congenital, 9 9.2
35 thrombocytopenia 9.2
36 acinar cell carcinoma 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:

57
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

Human phenotypes related to Adult Syndrome:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
3 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
4 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
5 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
6 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
7 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
8 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
9 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
10 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
11 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
12 nasolacrimal duct obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000579
13 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
14 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
15 fingernail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100798
16 nail pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0001803
17 freckling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001480
18 toenail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100797
19 breast hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003187
20 split foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001839
21 absent nipple 59 32 frequent (33%) Frequent (79-30%) HP:0002561
22 abnormality of the dentition 59 Very frequent (99-80%)
23 abnormality of the nail 59 Very frequent (99-80%)
24 microdontia 32 HP:0000691
25 wide intermamillary distance 32 HP:0006610
26 abnormality of the face 59 Occasional (29-5%)
27 conjunctivitis 32 HP:0000509
28 split hand 32 HP:0001171
29 eczema 32 HP:0000964
30 hypodontia 32 HP:0000668
31 cutaneous photosensitivity 32 HP:0000992
32 oral cleft 32 HP:0000202
33 oligodontia 32 HP:0000677
34 sparse axillary hair 32 HP:0002215
35 ectodermal dysplasia 32 HP:0000968
36 dermal atrophy 32 HP:0004334
37 alopecia of scalp 32 HP:0002293
38 fair hair 32 HP:0002286
39 adermatoglyphia 32 HP:0007455
40 premature loss of permanent teeth 32 HP:0006357

UMLS symptoms related to Adult Syndrome:


dry skin

MGI Mouse Phenotypes related to Adult Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 DHRS3 HSD11B2 IGF2 INS NR3C1 SATB2
2 cellular MP:0005384 9.86 ALG2 HSD11B2 IGF2 INS NR3C1 PHLDA2
3 digestive/alimentary MP:0005381 9.7 DHRS3 HSD11B2 IGF2 INS NR3C1 SATB2
4 embryo MP:0005380 9.43 IGF2 INS PHLDA2 SATB2 TP63 DHRS3
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 29 TP63
2 Acro-Dermato-Ungual-Lacrimal-Tooth (adult) Syndrome 29

Anatomical Context for Adult Syndrome

MalaCards organs/tissues related to Adult Syndrome:

41
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
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
8
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. ( 20814947 )
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
Further phenotypic and genetic variation in ADULT syndrome. ( 17041931 )
2006
12
Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome. ( 16929068 )
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:

75
# 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.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh37 Chromosome 3, 189582168: 189582168
2 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh38 Chromosome 3, 189864379: 189864379
3 TP63 NM_001114982.1(TP63): c.16A> C (p.Asn6His) single nucleotide variant Pathogenic rs113993963 GRCh38 Chromosome 3, 189789816: 189789816
4 TP63 NM_001114982.1(TP63): c.16A> C (p.Asn6His) single nucleotide variant Pathogenic rs113993963 GRCh37 Chromosome 3, 189507605: 189507605
5 TP63 NM_003722.4(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 GRCh37 Chromosome 3, 189586386: 189586386
6 TP63 NM_003722.4(TP63): c.1010G> A (p.Arg337Gln) single nucleotide variant Pathogenic rs113993967 GRCh38 Chromosome 3, 189868597: 189868597
7 TP63 TP63, VAL114MET single nucleotide variant Pathogenic
8 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
9 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh38 Chromosome 3, 189868641: 189868641
10 TP63 NM_003722.4(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 GRCh37 Chromosome 3, 189586385: 189586385
11 TP63 NM_003722.4(TP63): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs113993966 GRCh38 Chromosome 3, 189868596: 189868596
12 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
13 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh38 Chromosome 3, 189866712: 189866712
14 TP63 TP63, PRO127LEU single nucleotide variant Pathogenic
15 TP63 NM_003722.4(TP63): c.1846delC (p.Leu616Serfs) deletion Pathogenic rs113993964 GRCh37 Chromosome 3, 189612094: 189612094
16 TP63 NM_003722.4(TP63): c.1846delC (p.Leu616Serfs) deletion Pathogenic rs113993964 GRCh38 Chromosome 3, 189894305: 189894305
17 TP63 NM_003722.4(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 GRCh37 Chromosome 3, 189526254: 189526254
18 TP63 NM_003722.4(TP63): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs113993965 GRCh38 Chromosome 3, 189808465: 189808465
19 TP63 NM_003722.4(TP63): c.1963delC (p.Arg655Glufs) deletion Pathogenic rs797044843 GRCh37 Chromosome 3, 189612211: 189612211
20 TP63 NM_003722.4(TP63): c.1963delC (p.Arg655Glufs) deletion Pathogenic rs797044843 GRCh38 Chromosome 3, 189894422: 189894422

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 9.37 IGF2 INS
2 animal organ morphogenesis GO:0009887 9.33 IGF2 PHLDA2 TP63
3 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 IGF2 INS
4 positive regulation of glycogen biosynthetic process GO:0045725 9.26 IGF2 INS
5 response to insulin GO:0032868 9.13 HSD11B2 IGF2 INS
6 regulation of gene expression GO:0010468 8.92 IGF2 INS PHLDA2 SATB2

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

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.26 HSD11B2 NR3C1
2 insulin receptor binding GO:0005158 9.16 IGF2 INS
3 insulin-like growth factor receptor binding GO:0005159 8.96 IGF2 INS
4 receptor activator activity GO:0030546 8.62 IGF2 INS

Sources for Adult Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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