| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.4%) |
22065614 |
A newborn with overlapping features of AEC and EEC syndromes. Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M. Am J Med Genet A. 2011;155A(12):3100-3. |
| Short philtrum Ankyloblepharon Polydactyly | ||
| TP63 | ||
| p|SUB|C|308|Y | ||
| Amino Acid Substitution Cleft Palate Ectodermal Dysplasia Eye Abnormalities Fatal Outcome Females Homo sapiens Infant, Newborn Mutation Phenotype Tumor Suppressor Proteins | ||
| 2 (56.9%) |
17431922 |
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Maclean K, Holme SA, Gilmour E, Taylor M, Scheffer H, Graf N, Smith GH, Onikul E, van Bokhoven H, Moss C, Ades LC. Am J Med Genet A. 2007;143A(10):1114-9. |
| Split hand Cleft lip | ||
| TP63 | ||
| p|SUB|R|227|Q;RS#:121908849 rs121908849 | ||
| Adult Child, Preschool Cleft Palate DNA-Binding Proteins Ectodermal Dysplasia Females Fingers Genotype Homo sapiens Infant Male Middle Aged Phenotype Point Mutation Syndrome Trans-Activators Tumor Suppressor Proteins Urination Disorders | ||
| 3 (32.1%) |
21990121 |
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. Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E. Am J Med Genet A. 2011;155A(11):2746-9. |
| Cleft lip | ||
| TP63 | ||
| c|SUB|G|401|T p|SUB|G|134|V | ||
| Abbreviations as Topic Adult Breast Cleft Palate DNA Mutational Analysis Ectodermal Dysplasia Heterozygote Homo sapiens Intellectual Disability Lacrimal Duct Obstruction Limb Deformities, Congenital Male Mutation Nails, Malformed Phenotype Pigmentation Disorders Syndactyly Tumor Suppressor Proteins | ||
| 4 (27.8%) |
28293528 (5222673) |
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. Otsuki Y, Ueda K, Satoh C, Maekawa R, Yoshiura KI, Iseki S. Plast Reconstr Surg Glob Open. 2016;4(12):e1185. |
| Hypodontia | ||
| EEC1 TP63 | ||
| c|SUB|G|728|A;RS#:121908836|113993967 p|SUB|R|204|Q;RS#:121908836 p|SUB|R|243|Q;RS#:113993967|121908836 | ||
| 5 (4.0%) |
29130604 |
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins. Wenger T, Li D, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj EJ. Am J Med Genet A. 2018;176(1):75-81. |
| Hydronephrosis | ||
| TP63 | ||
| Adult Alleles Amino Acid Substitution Child Child, Preschool Facies Females Genetic Association Studies Genotype Homo sapiens Male Mutation Phenotype Tumor Suppressor Proteins Young Adult |
Total: 32
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000564 | Lacrimal duct atresia | Frequent (79-30%) |
| HP:0001092 | Absent lacrimal punctum | Frequent (79-30%) |
| HP:0002557 | Hypoplastic nipples | Frequent (79-30%) |
| HP:0002561 | Absent nipple | Frequent (79-30%) |
| HP:0012814 | Bilateral breast hypoplasia | Frequent (79-30%) |
| HP:0100783 | Breast aplasia | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000193 | Bifid uvula | Occasional (29-5%) |
| HP:0000498 | Blepharitis | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0000958 | Dry skin | Occasional (29-5%) |
| HP:0000966 | Hypohidrosis | Occasional (29-5%) |
| HP:0001159 | Syndactyly | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0002164 | Nail dysplasia | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0007717 | Chronic irritative conjunctivitis | Occasional (29-5%) |
| HP:0011819 | Submucous cleft soft palate | Occasional (29-5%) |
| HP:0011939 | 3-4 finger cutaneous syndactyly | Occasional (29-5%) |
| HP:0012165 | Oligodactyly | Occasional (29-5%) |
| HP:0410005 | Cleft hard palate | Occasional (29-5%) |
| HP:0410030 | Cleft lip | Occasional (29-5%) |
| HP:0000151 | Aplasia of the uterus | Very rare (4-1%) |
| HP:0000272 | Malar flattening | Very rare (4-1%) |
| HP:0000411 | Protruding ear | Very rare (4-1%) |
| HP:0000786 | Primary amenorrhea | Very rare (4-1%) |
| HP:0001480 | Freckling | Very rare (4-1%) |
| HP:0001596 | Alopecia | Very rare (4-1%) |
| HP:0003765 | Psoriasiform dermatitis | Very rare (4-1%) |
| HP:0007565 | Multiple cafe-au-lait spots | Very rare (4-1%) |
| HP:0010463 | Aplasia of the ovary | Very rare (4-1%) |
| HP:0045075 | Sparse eyebrow | Very rare (4-1%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009755 | Ankyloblepharon | 1 |
| HP:0410030 | Cleft lip | 1 |