PedAM

Pediatric Disease Annotations & Medicines


	adult syndrome

Disease ID	698
Disease	adult syndrome
Definition	The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome has characteristics of ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed. Fourteen cases have been described so far. Transmission is autosomal dominant.
Synonym	acro-dermato-ungual-lacrimal-tooth syndrome acro-dermato-ungual-lacrimal-tooth syndrome (disorder) adult (acro-dermato-ungual-lacrimal-tooth) syndrome pigment anomaly ectrodactyly hypodontia propping zerres syndrome
Orphanet	ORPHANET:978
OMIM	OMIM:103285
DOID	DOID:0050601
UMLS	C1863204
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) TP63 \| 8626 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:126) 2288 \| FKBP4 \| DISEASES 5318 \| PKP2 \| DISEASES 8646 \| CHRD \| DISEASES 5106 \| PCK2 \| DISEASES 215 \| ABCD1 \| DISEASES 3972 \| LHB \| DISEASES 2798 \| GNRHR \| DISEASES 2908 \| NR3C1 \| DISEASES 8358 \| HIST1H3B \| DISEASES 6495 \| SIX1 \| DISEASES 3630 \| INS \| DISEASES 25796 \| PGLS \| DISEASES 3021 \| H3F3B \| DISEASES 5994 \| RFXAP \| DISEASES 54407 \| SLC38A2 \| DISEASES 6386 \| SDCBP \| DISEASES 64240 \| ABCG5 \| DISEASES 23314 \| SATB2 \| DISEASES 5629 \| PROX1 \| DISEASES 6095 \| RORA \| DISEASES 2184 \| FAH \| DISEASES 4481 \| MSR1 \| DISEASES 57045 \| TWSG1 \| DISEASES 6416 \| MAP2K4 \| DISEASES 5465 \| PPARA \| DISEASES 7350 \| UCP1 \| DISEASES 90 \| ACVR1 \| DISEASES 114879 \| OSBPL5 \| DISEASES 8626 \| TP63 \| DISEASES 55089 \| SLC38A4 \| DISEASES 7112 \| TMPO \| DISEASES 145226 \| RDH12 \| DISEASES 1583 \| CYP11A1 \| DISEASES 5373 \| PMM2 \| DISEASES 7157 \| TP53 \| DISEASES 6647 \| SOD1 \| DISEASES 29947 \| DNMT3L \| DISEASES 5972 \| REN \| DISEASES 64241 \| ABCG8 \| DISEASES 185 \| AGTR1 \| DISEASES 84159 \| ARID5B \| DISEASES 4154 \| MBNL1 \| DISEASES 5468 \| PPARG \| DISEASES 3099 \| HK2 \| DISEASES 168667 \| BMPER \| DISEASES 5092 \| PCBD1 \| DISEASES 26585 \| GREM1 \| DISEASES 3479 \| IGF1 \| DISEASES 5968 \| REG1B \| DISEASES 2237 \| FEN1 \| DISEASES 2525 \| FUT3 \| DISEASES 2548 \| GAA \| DISEASES 56246 \| MRAP \| DISEASES 3952 \| LEP \| DISEASES 10294 \| DNAJA2 \| DISEASES 3291 \| HSD11B2 \| DISEASES 4351 \| MPI \| DISEASES 7262 \| PHLDA2 \| DISEASES 9370 \| ADIPOQ \| DISEASES 117584 \| RFFL \| DISEASES 51218 \| GLRX5 \| DISEASES 8354 \| HIST1H3I \| DISEASES 8624 \| PSMG1 \| DISEASES 57178 \| ZMIZ1 \| DISEASES 2289 \| FKBP5 \| DISEASES 4862 \| NPAS2 \| DISEASES 6622 \| SNCA \| DISEASES 3572 \| IL6ST \| DISEASES 6609 \| SMPD1 \| DISEASES 866 \| SERPINA6 \| DISEASES 389421 \| LIN28B \| DISEASES 84706 \| GPT2 \| DISEASES 1760 \| DMPK \| DISEASES 6925 \| TCF4 \| DISEASES 5325 \| PLAGL1 \| DISEASES 3482 \| IGF2R \| DISEASES 8350 \| HIST1H3A \| DISEASES 26151 \| NAT9 \| DISEASES 23224 \| SYNE2 \| DISEASES 8356 \| HIST1H3J \| DISEASES 23607 \| CD2AP \| DISEASES 1786 \| DNMT1 \| DISEASES 8353 \| HIST1H3E \| DISEASES 3020 \| H3F3A \| DISEASES 148811 \| PM20D1 \| DISEASES 6446 \| SGK1 \| DISEASES 23557 \| SNAPIN \| DISEASES 6273 \| S100A2 \| DISEASES 8357 \| HIST1H3H \| DISEASES 3283 \| HSD3B1 \| DISEASES 8771 \| TNFRSF6B \| DISEASES 5688 \| PSMA7 \| DISEASES 64834 \| ELOVL1 \| DISEASES 5292 \| PIM1 \| DISEASES 7321 \| UBE2D1 \| DISEASES 2268 \| FGR \| DISEASES 3561 \| IL2RG \| DISEASES 7357 \| UGCG \| DISEASES 5698 \| PSMB9 \| DISEASES 3293 \| HSD17B3 \| DISEASES 9249 \| DHRS3 \| DISEASES 8351 \| HIST1H3D \| DISEASES 57126 \| CD177 \| DISEASES 4693 \| NDP \| DISEASES 4868 \| NPHS1 \| DISEASES 1906 \| EDN1 \| DISEASES 1543 \| CYP1A1 \| DISEASES 51378 \| ANGPT4 \| DISEASES 51199 \| NIN \| DISEASES 4487 \| MSX1 \| DISEASES 11132 \| CAPN10 \| DISEASES 2875 \| GPT \| DISEASES 81539 \| SLC38A1 \| DISEASES 2887 \| GRB10 \| DISEASES 8897 \| MTMR3 \| DISEASES 3481 \| IGF2 \| DISEASES 34 \| ACADM \| DISEASES 388564 \| TMEM238 \| DISEASES 85365 \| ALG2 \| DISEASES 6256 \| RXRA \| DISEASES 8352 \| HIST1H3C \| DISEASES 8355 \| HIST1H3G \| DISEASES 8968 \| HIST1H3F \| DISEASES 2972 \| BRF1 \| DISEASES 7138 \| TNNT1 \| DISEASES 348120 \| LINC01193 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) TP63 \| 3q28

Disease ID	698
Disease	adult syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:24) HP:0000426 \| Prominent nasal bridge HP:0003187 \| Breast hypoplasia HP:0000164 \| Abnormality of the teeth HP:0006101 \| Finger syndactyly HP:0001596 \| Alopecia HP:0001839 \| Split foot HP:0002561 \| Absent nipple HP:0100797 \| Toenail dysplasia HP:0200042 \| Skin ulcer HP:0002557 \| Hypoplastic nipples HP:0000431 \| Wide nasal bridge HP:0000995 \| Melanocytic nevus HP:0000579 \| Nasolacrimal duct obstruction HP:0001770 \| Toe syndactyly HP:0006482 \| Abnormality of dental morphology HP:0001597 \| Abnormality of the nail HP:0002213 \| Fine hair HP:0000958 \| Dry skin HP:0000271 \| Abnormality of the face HP:0100798 \| Fingernail dysplasia HP:0001480 \| Freckling HP:0001803 \| Nail pits HP:0002209 \| Sparse scalp hair HP:0000963 \| Thin skin
Text Mined Phenotype	(Waiting for update.)

Disease ID	698
Disease	adult syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113993963	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189789816	A	C
rs113993964	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189894305	C	-
rs113993965	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189808465	G	A
rs113993966	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189868596	C	G
rs113993967	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189868597	G	A
rs121908835	22607287	8626	TP63	umls:C1863204	BeFree	ADULT syndrome due to an R243W mutation in TP63.	0.483257302	2012	TP63	3	189864379	C	T
rs121908847	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189868641	A	G
rs121908849	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189866712	G	A
rs797044843	NA	8626	TP63	umls:C1863204	CLINVAR	NA	0.483257302	NA	TP63	3	189894422	C	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:8)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
6	396321	rs12203592	C	T	rs12203592	20585627	2.00E-91	NA	1.61	[NA] unit increase	9,126 European ancestry individuals	European(9126)	ALL(9126)	EUR(9126)	ALL(9126)	Freckling	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D010859	Pigmentation Disorders	EFOID:0003963	freckles	NA	rs12203592-T	Research Support, Non-U.S. Gov't	C	IRF4
6	466033	rs1540771	C	T	rs1540771	17952075	4.00E-18	NA	1.4	[1.26-1.57]	2,986 individuals	NOPOP(2986)	ALL(2986)	NOPOP(2986)	ALL(2986)	Freckles	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D008548	Melanosis	EFOID:0003963	freckles	NA	rs1540771-A	NA	G	NA
9	16864521	rs2153271	C	T	rs2153271	20585627	4.00E-10	NA	0.4	[NA] unit decrease	9,126 European ancestry individuals	European(9126)	ALL(9126)	EUR(9126)	ALL(9126)	Freckling	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D010859	Pigmentation Disorders	EFOID:0003963	freckles	NA	rs2153271-C	Research Support, Non-U.S. Gov't	G	BNC2
9	16864521	rs367899983	CTCTG	C	rs2153271	20585627	4.00E-10	NA	0.4	[NA] unit decrease	9,126 European ancestry individuals	European(9126)	ALL(9126)	EUR(9126)	ALL(9126)	Freckling	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D010859	Pigmentation Disorders	EFOID:0003963	freckles	NA	rs2153271-C	Research Support, Non-U.S. Gov't	G	BNC2
11	88911696	rs1042602	C	A	rs1042602	17952075	2.00E-11	NA	1.32	[1.17-1.49]	2,986 individuals	NOPOP(2986)	ALL(2986)	NOPOP(2986)	ALL(2986)	Freckles	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D008548	Melanosis	EFOID:0003963	freckles	NA	rs1042602-C	NA	C	TYR
16	89818732	rs12931267	C	G	rs12931267	20585627	8.00E-62	NA	1.88	[NA] unit decrease	9,126 European ancestry individuals	European(9126)	ALL(9126)	EUR(9126)	ALL(9126)	Freckling	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D010859	Pigmentation Disorders	EFOID:0003963	freckles	NA	rs12931267-G	Research Support, Non-U.S. Gov't	C	FANCA
16	89986117	rs1805007	C	T	rs1805007	17952075	1.00E-96		4.37	[3.56-5.37]	2,986 individuals	NOPOP(2986)	ALL(2986)	NOPOP(2986)	ALL(2986)	Freckles	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D008548	Melanosis	EFOID:0003963	freckles	NA	rs1805007-T	NA	C	MC1R
20	33867697	rs619865	A	G	rs619865	20585627	5.00E-14	NA	0.77	[NA] unit increase	9,126 European ancestry individuals	European(9126)	ALL(9126)	EUR(9126)	ALL(9126)	Freckling	HPOID:0001480	Freckling	DOID:0050601	ADULT syndrome	D010859	Pigmentation Disorders	EFOID:0003963	freckles	NA	rs619865-A	Research Support, Non-U.S. Gov't	G	EIF6

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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