MCID: ADL002
MIFTS: 52

Adult Syndrome malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Adult Syndrome

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Sources:
8Disease Ontology, 46OMIM, 32MalaCards
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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: Adult Syndrome, also known as acro-dermato-ungual-lacrimal-tooth syndrome, is related to cleft palate and actinic keratosis, and has symptoms including excessive freckling, pigmented naevi/naevus pigmentosus/lentigo and thin skin. An important gene associated with Adult Syndrome is TP63 (tumor protein p63). Affiliated tissues include lung, breast and skin, and related mouse phenotype craniofacial.

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, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

adult syndrome 8 9 42 20 22 46 10 44 48 60
acro-dermato-ungual-lacrimal-tooth syndrome 8 42 48
acro dermato ungual lacrimal tooth syndrome 42
pigment anomaly - ectrodactyly - hypodontia 48


External Ids:

Disease Ontology8 DOID:0050601
OMIM46 103285
MESH via Orphanet35 C538052
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet61 C1863204
ICD1025 M83.9

Related Diseases for Adult Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Adult Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cleft palate29.6PVRL1, TP63
2actinic keratosis10.0TP63

Clinical Features for Adult Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

103285

Clinical synopsis from OMIM:

103285

Symptoms:

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

Drugs & Therapeutics for Adult Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Sources:
20GeneTests, 22GTR
See all sources

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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Sources:
32MalaCards
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MalaCards organs/tissues related to Adult Syndrome:

32
Lung, Breast, Skin, Bone, Heart, Brain, Testes, T cells, Kidney, Liver, Ovary, Eye, Bone marrow, Endothelial, Myeloid, Thyroid, Spinal cord, Pituitary, Monocytes, Lymph node, Skeletal muscle, Thymus, Amygdala, B cells, Testis, Cerebellum, Uterus, Adipocyte, Spleen, Whole blood, Bronchial epithelium

Animal Models for Adult Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Adult Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0TP63, TBX3, L1CAM, PVRL1

Publications for Adult Syndrome

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Sources:
50PubMed
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Articles related to Adult Syndrome:

(show top 50)    (show all 1994)
idTitleAuthorsYear
1
Inpatient health care utilization in the United States among children, adolescents, and young adults with nephrotic syndrome. (23434062)
2013
2
Asperger syndrome and &quot;non-verbal learning problems&quot; in a longitudinal perspective: neuropsychological and social adaptive outcome in early adult life. (23871410)
2013
3
Glucose homeostasis in adults with Prader-Willi syndrome during treatment with growth hormone: Results from a 12-month prospective study. (24360789)
2013
4
Successful treatment of heart failure in an adult patient with Prader-Willi syndrome. (23545673)
2013
5
Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. (22064563)
2012
6
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. (22780858)
2012
7
Becoming a member of the work force: perceptions of adults with Asperger Syndrome. (22927626)
2012
8
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
9
Adult cyclic vomiting syndrome successfully treated with intranasal sumatriptan. (19911235)
2010
10
Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS. (20431273)
2010
11
A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome. (20566803)
2010
12
Apolipoprotein A5 polymorphisms interact with total dietary fat intake in association with markers of metabolic syndrome in Puerto Rican older adults. (19828688)
2009
13
Inferior vena cava stent resolves hepatopulmonary syndrome in an adult with a spontaneous inferior vena cava-portal vein shunt. (19938123)
2009
14
Metabolic syndrome and C-reactive protein in American adults: the impact of abdominal obesity. (19067532)
2008
15
CETP TaqIB polymorphism in Turkish adults: association with dyslipidemia and metabolic syndrome. (18849221)
2008
16
Loss of extracellular superoxide dismutase leads to acute lung damage in the presence of ambient air: a potential mechanism underlying adult respiratory distress syndrome. (18787098)
2008
17
Islet hyperplasia in adults: challenge to preoperatively diagnose non-insulinoma pancreatogenic hypoglycemia syndrome. (16555022)
2006
18
Dumping syndrome as a complication of laparoscopic Nissen fundoplication in an adult. (16709369)
2006
19
Ganglioneuroma manifesting as an incidental adrenal mass in an adult with Turner's syndrome. (16638724)
2005
20
Pulmonary computed tomography and adult respiratory distress syndrome. (15846529)
2005
21
An unusual non-traumatic atlantoaxial subluxation in an adult patient: Grisel's syndrome. (15045640)
2004
22
Adult respiratory distress syndrome and renal failure associated with citalopram overdose. (12693836)
2003
23
The challenge of adolescents and adults with Asperger syndrome. (12512403)
2003
24
Successful use of extracorporeal life support in two cases of posttraumatic adult respiratory distress syndrome. (11426130)
2001
25
Practice parameter for repetitive nerve stimulation and single fiber EMG evaluation of adults with suspected myasthenia gravis or Lambert-Eaton myasthenic syndrome: summary statement. (11494280)
2001
26
TP63 gene mutation in ADULT syndrome. (11528512)
2001
27
Reduced rate of adult respiratory distress syndrome. (10864718)
2000
28
Persistent Mullerian duct syndrome in adult: a case report. (11253897)
2000
29
APOE epsilon 4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome. (10912224)
2000
30
Up-regulation of adhesion and MHC molecules on splenic monocyte/macrophages in adult haemophagocytic syndrome. (10192453)
1999
31
Adult respiratory distress syndrome due to pheochromocytoma as the initial presentation of multiple endocrine neoplasia type IIA syndrome. (10527046)
1999
32
Phaeochromocytoma with adult respiratory distress syndrome mimicking septicaemic shock. (9216583)
1997
33
Sagittal sinus thrombosis in adult minimal change nephrotic syndrome. (8846526)
1996
34
Computed tomography in adult respiratory distress syndrome: what has it taught us? (8793469)
1996
35
Inflammatory predictors for the development of the adult respiratory distress syndrome. (7491546)
1995
36
Adult respiratory distress syndrome and late death following imipramine overdose: a case report. (7850687)
1994
37
Prolonged treatment with almitrine for refractory hypoxemia in adult respiratory distress syndrome. (8181359)
1994
38
Adult respiratory distress syndrome complicating a systemic capillary leak syndrome. (8046129)
1994
39
Relationships between polymorphonuclear neutrophils and cytokines in patients with adult respiratory distress syndrome. (8031007)
1994
40
Adult respiratory distress syndrome as a complication of postanginal sepsis. (8486067)
1993
41
Adult respiratory distress syndrome after radical neck dissection. (8403139)
1993
42
Serum antioxidants as predictors of adult respiratory distress syndrome in patients with sepsis. (8095998)
1993
43
Fetal alcohol syndrome in adolescents and adults. (2008025)
1991
44
Cyclosporin A treatment of severe steroid resistant nephrotic syndrome in adults. (2299300)
1990
45
Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. (4073013)
1985
46
A draining arm lesion in a female adult. Lymphangiosarcoma (LAS) of Stewart-Treves syndrome. (4051535)
1985
47
Miliary tuberculosis and adult respiratory distress syndrome. (6938849)
1981
48
The adult respiratory distress syndrome associated with miliary tuberculosis. (620556)
1978
49
The chromosome 49, XXXXY syndrome: report of a case in an adult. (962613)
1976
50
Adult Fanconi syndrome and multiple myelomatosis. (5798628)
1969

Genetic Variations for Adult Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Adult Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TP63p.Arg337GlnVAR_020875

Expression for genes affiliated with Adult Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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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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Sources:
16Gene Ontology
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Biological processes related to Adult Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heterophilic cell-cell adhesionGO:0071579.7L1CAM, PVRL1
2cell agingGO:0075699.5TP63, TBX3

Products for genes affiliated with Adult Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adult Syndrome

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet