| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (56.0%) |
1481852 |
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. Franceschini P, Vardeu MP, Dalforno L, Signorile F, Franceschini D, Lala R, Matarazzo P. Am J Med Genet. 1992;44(6):807-12. |
| Delayed puberty Aplasia of the ulna | ||
| Apocrine Glands Breast Congenital Hand Deformities Cuspid Delayed Puberty Females Homo sapiens Male Male Genital Organs Syndrome Tooth Eruption, Ectopic | ||
| 2 (55.0%) |
16114047 |
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. Am J Med Genet A. 2005;138A(2):146-9. |
| Brachydactyly Lacrimal duct stenosis | ||
| TP63 | ||
| c|SUB|G|518|A;RS#:113993965 p|SUB|V|114|M | ||
| Base Sequence DNA Mutational Analysis DNA-Binding Proteins Differential Diagnosis Ectodermal Dysplasia Females Fingers Homo sapiens Lacrimal Duct Obstruction Male Missense Mutation Phenotype Phosphoproteins Syndrome Tooth Abnormalities Trans-Activators Tumor Suppressor Genes Tumor Suppressor Proteins | ||
| 3 (49.8%) |
14564152 |
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. Morava E, Czako M, Karteszi J, Cser B, Weissbecker K, Mehes K. Clin Dysmorphol. 2003;12(3):161-5. |
| Hemangioma Brachydactyly Fibular hypoplasia | ||
| Adult Body Height Congenital Hand Deformities Females Fingers Genes, Dominant Homo sapiens Infant Male Metacarpus | ||
| 4 (49.0%) |
991870 |
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. Gonzalez CH, Herrmann J, Opitz JM. Eur J Pediatr. 1976;123(4):225-35. |
| Unilateral oligodactyly | ||
| SON | ||
| Adult Breast Child Females Fingers Homo sapiens Kidney Male Shoulder Syndrome | ||
| 5 (41.8%) |
24381628 (3872594) |
Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child. Malik S, Afzal M. J Res Med Sci. 2013;18(9):818-21. |
| Flexion contracture Narrow palm Radial dysplasia | ||
| 6 (35.3%) |
15996213 |
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? Sinkovec M, Petrovic D, Volk M, Peterlin B. Clin Genet. 2005;68(2):155-60. |
| Brachydactyly | ||
| rs1553262007 rs267607582 rs57077886 rs57830985 | ||
| Adult Age of Onset Cardiomyopathy, Dilated Congenital Foot Deformity Congenital Hand Deformities Females Heart Block Homo sapiens Male Middle Aged Phenotype Sinoatrial Block Sudden Cardiac Death Syndrome | ||
| 7 (31.0%) |
10594882 |
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs. Kaplan BS, Bellah RD. Am J Med Genet. 1999;87(5):426-9. |
| Polydactyly | ||
| Bone Diseases, Developmental Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Differential Diagnosis Homo sapiens Infant Kidney Diseases Male Polydactyly Syndrome Ultrasonography | ||
| 8 (4.0%) |
19938096 |
Ulnar Mammary syndrome and TBX3: expanding the phenotype. Linden H, Williams R, King J, Blair E, Kini U. Am J Med Genet A. 2009;149A(12):2809-12. |
| Cryptorchidism | ||
| TBX3 | ||
| rs397514484 rs927204453 | ||
| Child Child, Preschool Females Homo sapiens Infant, Newborn Male Phenotype Pregnancy Syndrome T-Box Domain Proteins | ||
| 8 (4.0%) |
12116211 |
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N. Am J Med Genet. 2002;110(4):365-9. |
| Cryptorchidism | ||
| TBX3 | ||
| c|SUB|A|817|T;RS#:104894376 p|SUB|K|273|X;RS#:104894376 rs104894376 | ||
| Amino Acid Sequence Base Sequence Breast Child Codon, Nonsense DNA DNA Mutational Analysis Disorders of Sex Development Females Homo sapiens Japan Male Middle Aged Mutation Syndrome T-Box Domain Proteins | ||
| 8 (4.0%) |
8923944 |
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. Bamshad M, Root S, Carey JC. Am J Med Genet. 1996;65(4):325-31. |
| Delayed puberty | ||
| TBX3 | ||
| Apocrine Glands Breast Congenital Hand Deformities Females Fingers Homo sapiens Infant Male Syndrome Tooth Abnormalities |
Total: 36
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001167 | Abnormality of finger | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0002221 | Absent axillary hair | Very frequent (99-80%) |
| HP:0004370 | Abnormality of temperature regulation | Very frequent (99-80%) |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000130 | Abnormality of the uterus | Frequent (79-30%) |
| HP:0000144 | Decreased fertility | Frequent (79-30%) |
| HP:0000823 | Delayed puberty | Frequent (79-30%) |
| HP:0001513 | Obesity | Frequent (79-30%) |
| HP:0002557 | Hypoplastic nipples | Frequent (79-30%) |
| HP:0003019 | Abnormality of the wrist | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0000089 | Renal hypoplasia | Occasional (29-5%) |
| HP:0000668 | Hypodontia | Occasional (29-5%) |
| HP:0000768 | Pectus carinatum | Occasional (29-5%) |
| HP:0000889 | Abnormality of the clavicle | Occasional (29-5%) |
| HP:0000912 | Sprengel anomaly | Occasional (29-5%) |
| HP:0001162 | Postaxial hand polydactyly | Occasional (29-5%) |
| HP:0001163 | Abnormality of the metacarpal bones | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001800 | Hypoplastic toenails | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002818 | Abnormality of the radius | Occasional (29-5%) |
| HP:0003063 | Abnormality of the humerus | Occasional (29-5%) |
| HP:0004050 | Absent hand | Occasional (29-5%) |
| HP:0004299 | Hernia of the abdominal wall | Occasional (29-5%) |
| HP:0004397 | Ectopic anus | Occasional (29-5%) |
| HP:0009751 | Aplasia of the pectoralis major muscle | Occasional (29-5%) |
| HP:0009882 | Short distal phalanx of finger | Occasional (29-5%) |
| HP:0011675 | Arrhythmia | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100783 | Breast aplasia | Occasional (29-5%) |
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000823 | Delayed puberty | 3 |
| HP:0012165 | Oligodactyly | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001171 | Split hand | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0003186 | Inverted nipples | 1 |
| HP:0003982 | Aplasia of the ulna | 1 |
| HP:0004322 | Short stature | 1 |