| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
22903743 |
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability. Coutton C, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V. Am J Med Genet A. 2012;158A(10):2564-70. |
| Triangular face Micrognathia | ||
| Chromosomal Duplication Chromosomes, Human, Pair 17 Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Intellectual Disability Male | ||
| 1 (59.0%) |
17885526 |
Surgical closure of an atrial septal defect in an 11-year-old girl with Silver-Russell syndrome. Vahlas CE, Chatzis AC, Giannopoulos NM, Contrafouris CA, Milonakis MC, Sarris GE. J Cardiovasc Med (Hagerstown). 2007;8(10):850-1. |
| Triangular face Micrognathia | ||
| Atrial Septal Defects Child Females Growth Disorders Homo sapiens | ||
| 3 (57.8%) |
28872989 |
Orthodontic Treatment in Conjunction with Twin-bock Treatment and Growth Hormone Therapy in Silver Russell Syndrome. Ko SJ, Seo JY, Kwon YD, Cheon K, Park JH. J Clin Pediatr Dent. 2017;41(5):392-397. |
| Micrognathia | ||
| GH1 | ||
| Child Homo sapiens Human Growth Hormone Male Malocclusion Orthodontic Appliances Orthodontics, Corrective | ||
| 3 (57.8%) |
626060 |
Deletion short arm 18 and Silver-Russell syndrome. Christensen MF, Nielsen J. Acta Paediatr Scand. 1978;67(1):101-3. |
| Micrognathia | ||
| Bone Diseases, Developmental Chromosome Deletion Chromosomes, Human, 16-18 Craniofacial Dysostosis Dwarfism Homo sapiens Hypertrophy Male Precocious Puberty Syndrome | ||
| 5 (54.4%) |
26101195 |
Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome. Haruma T, Ogawa C, Nishida T, Kusumoto T, Nakamura K, Seki N, Katayama T, Hiramatsu Y. Acta Med Okayama. 2015;69(3):183-8. |
| Triangular face Relative macrocephaly Finger clinodactyly | ||
| Adult Choriocarcinoma Chorionic Gonadotropin, beta Subunit, Human Females Homo sapiens Pregnancy | ||
| 6 (52.0%) |
10987657 |
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Hum Genet. 1999;105(3):273-80. |
| Facial asymmetry Finger clinodactyly | ||
| EGFR GRB10 IGFBP1 | ||
| Adult Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 7 DNA Females Fingers Fluorescent in Situ Hybridization GRB10 Adaptor Protein Gene Duplication Growth Disorders Homo sapiens Proteins Short Tandem Repeat Syndrome | ||
| 7 (50.0%) |
29075327 (5645907) |
Mosaic UPD(7q)mat in a patient with silver Russell syndrome. Su J, Wang J, Fan X, Fu C, Zhang S, Zhang Y, Qin Z, Li H, Luo J, Li C, Jiang T, Shen Y. Mol Cytogenet. 2017;10:36. |
| Triangular face Toe clinodactyly Relative macrocephaly | ||
| 7 (50.0%) |
20503324 |
Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15). Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, Rossier E. Am J Med Genet A. 2010;152A(6):1484-7. |
| Triangular face Relative macrocephaly Clinodactyly | ||
| H19 IGF2 | ||
| Adult Child, Preschool Chromosomes, Human, Pair 11 Females Homo sapiens Male Single Nucleotide Polymorphism | ||
| 7 (50.0%) |
7515753 |
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Schinzel AA, Robinson WP, Binkert F, Fanconi A. Clin Dysmorphol. 1994;3(1):63-9. |
| Microcephaly Triangular face Clinodactyly | ||
| PLAT | ||
| Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 8 Developmental Disabilities Face Females Genetic Markers Homo sapiens Male Polymerase Chain Reaction Syndrome | ||
| 10 (48.0%) |
11861937 |
IGF-related proteins at birth in a case of antenatally diagnosed Silver-Russell syndrome. Fukushima K, Komatsu H, Matsumoto M, Kobayashi H, Tsukimori K, Satoh S, Nakano H. Pediatr Res. 2002;51(3):323-7. |
| Microcephaly Rocker bottom foot | ||
| IGF1 IGF1R | ||
| Adult Chromosome Aberrations Chromosomes, Human, Pair 15 Fatal Outcome Females Fetal Growth Retardation Homo sapiens Human Growth Hormone Infant, Newborn Insulin-Like Growth Factor Binding Protein 3 Insulin-Like-Growth Factor I Receptor Placenta Pregnancy |
Total: 53
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000592 | Blue sclerae | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0004482 | Relative macrocephaly | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0011220 | Prominent forehead | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000032 | Abnormality of male external genitalia | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000270 | Delayed cranial suture closure | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000855 | Insulin resistance | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
| HP:0001620 | High pitched voice | Frequent (79-30%) |
| HP:0001622 | Premature birth | Frequent (79-30%) |
| HP:0001988 | Recurrent hypoglycemia | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002360 | Sleep disturbance | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0002829 | Arthralgia | Frequent (79-30%) |
| HP:0003199 | Decreased muscle mass | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0008364 | Abnormality of the calcaneus | Frequent (79-30%) |
| HP:0008734 | Decreased testicular size | Frequent (79-30%) |
| HP:0010782 | Shoulder dimple | Frequent (79-30%) |
| HP:0011844 | Abnormal appendicular skeleton morphology | Frequent (79-30%) |
| HP:0012412 | Premature adrenarche | Frequent (79-30%) |
| HP:0100555 | Asymmetric growth | Frequent (79-30%) |
| HP:0100559 | Lower limb asymmetry | Frequent (79-30%) |
| HP:0100560 | Upper limb asymmetry | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000142 | Abnormal vagina morphology | Occasional (29-5%) |
| HP:0000729 | Autistic behavior | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0000957 | Cafe-au-lait spot | Occasional (29-5%) |
| HP:0000975 | Hyperhidrosis | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001626 | Abnormality of the cardiovascular system | Occasional (29-5%) |
| HP:0001852 | Sandal gap | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0005484 | Postnatal microcephaly | Occasional (29-5%) |
| HP:0008935 | Generalized neonatal hypotonia | Occasional (29-5%) |
Total: 34
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008897 | Postnatal growth retardation | 12 |
| HP:0000325 | Triangular face | 7 |
| HP:0001548 | Overgrowth | 5 |
| HP:0004322 | Short stature | 4 |
| HP:0004482 | Relative macrocephaly | 4 |
| HP:0030084 | Clinodactyly | 4 |
| HP:0000347 | Micrognathia | 3 |
| HP:0001159 | Syndactyly | 3 |
| HP:0000369 | Low-set ears | 2 |
| HP:0001336 | Myoclonus | 2 |
| HP:0001508 | Failure to thrive | 2 |
| HP:0001511 | Intrauterine growth retardation | 2 |
| HP:0011220 | Prominent forehead | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000337 | Broad forehead | 1 |
| HP:0000786 | Primary amenorrhea | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001007 | Hirsutism | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001701 | Pericarditis | 1 |
| HP:0001838 | Rocker bottom foot | 1 |
| HP:0002563 | Constrictive pericarditis | 1 |
| HP:0005461 | Craniofacial disproportion | 1 |
| HP:0008200 | Primary hyperparathyroidism | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0040019 | Finger clinodactyly | 1 |
| HP:0100768 | Choriocarcinoma | 1 |
| HP:0100790 | Hernia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|