eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adult syndrome | ||||
| Disease ID | 1145 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C1863204 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:68) 34 | ACADM | 1.912 | DISEASES 9370 | ADIPOQ | 1.709 | DISEASES 85365 | ALG2 | 2.849 | DISEASES 51378 | ANGPT4 | 2.493 | DISEASES 2972 | BRF1 | 3.366 | DISEASES 11132 | CAPN10 | 1.214 | DISEASES 57126 | CD177 | 1.225 | DISEASES 23607 | CD2AP | 2.204 | DISEASES 1543 | CYP1A1 | 1.104 | DISEASES 9249 | DHRS3 | 2.856 | DISEASES 1760 | DMPK | 1.015 | DISEASES 1786 | DNMT1 | 1.249 | DISEASES 1906 | EDN1 | 1.713 | DISEASES 64834 | ELOVL1 | 2.526 | DISEASES 2268 | FGR | 1.549 | DISEASES 2289 | FKBP5 | 1.336 | DISEASES 51218 | GLRX5 | 2.351 | DISEASES 2875 | GPT | 1.747 | DISEASES 84706 | GPT2 | 1.974 | DISEASES 2887 | GRB10 | 2.806 | DISEASES 3020 | H3F3A | 1.624 | DISEASES 8350 | HIST1H3A | 2.408 | DISEASES 8352 | HIST1H3C | 2.195 | DISEASES 8351 | HIST1H3D | 2.408 | DISEASES 8353 | HIST1H3E | 2.2 | DISEASES 8968 | HIST1H3F | 2.408 | DISEASES 8355 | HIST1H3G | 2.408 | DISEASES 8357 | HIST1H3H | 2.408 | DISEASES 8354 | HIST1H3I | 2.408 | DISEASES 8356 | HIST1H3J | 2.198 | DISEASES 3293 | HSD17B3 | 2.083 | DISEASES 3283 | HSD3B1 | 1.359 | DISEASES 3481 | IGF2 | 2.785 | DISEASES 3482 | IGF2R | 1.116 | DISEASES 3561 | IL2RG | 1.001 | DISEASES 3572 | IL6ST | 1.739 | DISEASES 389421 | LIN28B | 1.65 | DISEASES 348120 | LINC01193 | 1.675 | DISEASES 4487 | MSX1 | 1.313 | DISEASES 8897 | MTMR3 | 2.879 | DISEASES 26151 | NAT9 | 1.194 | DISEASES 4693 | NDP | 1.852 | DISEASES 51199 | NIN | 1.862 | DISEASES 4862 | NPAS2 | 1.953 | DISEASES 4868 | NPHS1 | 1.386 | DISEASES 5292 | PIM1 | 1.269 | DISEASES 5325 | PLAGL1 | 1.651 | DISEASES 148811 | PM20D1 | 3.381 | DISEASES 5688 | PSMA7 | 1.316 | DISEASES 5698 | PSMB9 | 1.191 | DISEASES 8624 | PSMG1 | 2.957 | DISEASES 117584 | RFFL | 2.351 | DISEASES 6256 | RXRA | 1.349 | DISEASES 6273 | S100A2 | 1.739 | DISEASES 866 | SERPINA6 | 1.28 | DISEASES 6446 | SGK1 | 1.04 | DISEASES 81539 | SLC38A1 | 2.292 | DISEASES 6609 | SMPD1 | 1.825 | DISEASES 23557 | SNAPIN | 2.498 | DISEASES 6622 | SNCA | 1.169 | DISEASES 23224 | SYNE2 | 1.714 | DISEASES 6925 | TCF4 | 1.126 | DISEASES 388564 | TMEM238 | 4.995 | DISEASES 8771 | TNFRSF6B | 1.438 | DISEASES 7138 | TNNT1 | 1.754 | DISEASES 7321 | UBE2D1 | 1.289 | DISEASES 7357 | UGCG | 1.539 | DISEASES 57178 | ZMIZ1 | 2.299 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TP63 | 3q28 |
| Disease ID | 1145 |
|---|---|
| Disease | adult syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0001480 | Freckling HP:0002213 | Fine hair HP:0001770 | Toe syndactyly HP:0002557 | Hypoplastic nipples HP:0000963 | Thin skin HP:0006101 | Finger syndactyly HP:0006482 | Abnormality of dental morphology HP:0000164 | Abnormality of the teeth HP:0200042 | Skin ulcer HP:0002561 | Absent nipple HP:0000271 | Abnormality of the face HP:0100797 | Toenail dysplasia HP:0003187 | Breast hypoplasia HP:0001803 | Nail pits HP:0002209 | Sparse scalp hair HP:0100798 | Fingernail dysplasia HP:0000431 | Wide nasal bridge HP:0000995 | Melanocytic nevus HP:0001597 | Abnormality of the nail HP:0000426 | Prominent nasal bridge HP:0000579 | Nasolacrimal duct obstruction HP:0001596 | Alopecia HP:0000958 | Dry skin HP:0001839 | Split foot |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1145 |
|---|---|
| Disease | adult syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000579 | Nasolacrimal duct obstruction | MP:0009525 | abnormal submandibular duct morphology | any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0002209 | Sparse scalp hair | MP:0011195 | increased hair follicle apoptosis | greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0006482 | Abnormality of dental morphology | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0003187 | Breast hypoplasia | MP:0009101 | clitoris hypoplasia | underdevelopment or reduced size of the clitoris, usually due to a reduced number of cells |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100797 | Toenail dysplasia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0000995 | Melanocytic nevus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002557 | Hypoplastic nipples | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001839 | Split foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002561 | Absent nipple | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0002209 | Sparse scalp hair | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003187 | Breast hypoplasia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000579 | Nasolacrimal duct obstruction | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001480 | Freckling | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0001803 | Nail pits | MP:0014130 | thymus cysts | presence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1145 |
|---|---|
| Disease | adult syndrome |
| Case | (Waiting for update.) |