| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.0%) |
21910224 (3183328) |
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Am J Med Genet A. 2011;155A(10):2516-20. |
| Glossoptosis Micrognathia Upslanted palpebral fissure | ||
| RBM10 | ||
| rs1556770954 rs1556778373 rs1556779417 | ||
| Brain Child, Preschool Congenital Heart Defects DNA Mutational Analysis Exons Homo sapiens Magnetic Resonance Imaging Male Phenotype Pierre Robin Syndrome RNA-Binding Proteins Survival Rate | ||
| 2 (59.0%) |
30462380 |
First reported adult patient with TARP syndrome: A case report. Hojland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK. Am J Med Genet A. 2018;176(12):2915-2918. |
| Micrognathia Prominent nose | ||
| RBM10 | ||
| c|INDEL|273_283|A | ||
| Adult Congenital Heart Defects DNA Mutational Analysis Facies Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Loss of Function Mutation Male Open Reading Frames Phenotype Pierre Robin Syndrome RNA-Binding Proteins | ||
| 3 (31.0%) |
30189253 |
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. Eur J Med Genet. 2019;62(6):103534. |
| Syndactyly | ||
| RBM10 | ||
| Child Congenital Heart Defects Differential Diagnosis Homo sapiens Male Pierre Robin Syndrome RNA-Binding Proteins | ||
| 4 (30.6%) |
28577551 (5455125) |
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. Powis Z, Hart A, Cherny S, Petrik I, Palmaer E, Tang S, Jones C. BMC Med Genet. 2017;18(1):60. |
| Talipes equinovarus Hemivertebrae | ||
| RBM10 | ||
| c|DEL|1352_1353|AG p|FS|E|451|V|66 rs1131690789 rs1556778373 rs1556779417 | ||
| Congenital Heart Defects Exome Fatal Outcome Homo sapiens Infant Male Mutation Phenotype Pierre Robin Syndrome RNA-Binding Proteins Sequence Analysis, DNA | ||
| 5 (22.8%) |
30450804 |
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. Kaeppler KE, Stetson RC, Lanpher BC, Collura CA. Am J Med Genet A. 2018;176(12):2911-2914. |
| Hydronephrosis Talipes equinovarus | ||
| Cause of Death Congenital Heart Defects Fluorescent in Situ Hybridization Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Infant Male Mutation Phenotype Pierre Robin Syndrome RNA-Binding Proteins | ||
| 5 (22.8%) |
24259342 (4443488) |
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Am J Med Genet A. 2014;164A(1):120-8. |
| Talipes | ||
| RBM10 | ||
| rs1556778373 rs1556779417 rs886044718 | ||
| Brain Chromosome Aberrations Congenital Heart Defects Exome Facies Fatal Outcome Females Genetic Association Studies High-Throughput Nucleotide Sequencing Homo sapiens Infant Infant, Newborn Magnetic Resonance Angiography Male Mosaicism Mutation Phenotype Pierre Robin Syndrome | ||
| 7 (4.0%) |
30167019 (6111479) |
Efficacy and safety of cardioversion with continuous landiolol infusion for atrial tachyarrhythmia in an inflammatory state caused by volvulus in a child with TARP syndrome and postoperative tetralogy of Fallot. Miyamoto K, Ishii J, Fukuda H, Ariga S, Suzumura H, Kurosawa H, Kamijima T, Yamaguchi T, Ogino M, Tsuchioka T, Yoshihara S. J Arrhythm. 2018;34(4):458-461. |
| Fever | ||
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000201 | Pierre-Robin sequence | Very frequent (99-80%) |
| HP:0001631 | Atrial septal defect | Very frequent (99-80%) |
| HP:0001762 | Talipes equinovarus | Very frequent (99-80%) |
| HP:0005301 | Persistent left superior vena cava | Very frequent (99-80%) |
| HP:0000162 | Glossoptosis | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000340 | Sloping forehead | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000961 | Cyanosis | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001838 | Rocker bottom foot | Frequent (79-30%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000239 | Large fontanelles | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000385 | Small earlobe | Occasional (29-5%) |
| HP:0000395 | Prominent antihelix | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000574 | Thick eyebrow | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001273 | Abnormal corpus callosum morphology | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001978 | Extramedullary hematopoiesis | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002136 | Broad-based gait | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0004492 | Widely patent fontanelles and sutures | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006434 | Hypoplasia of proximal radius | Occasional (29-5%) |
| HP:0009738 | Abnormality of the antihelix | Occasional (29-5%) |
| HP:0012745 | Short palpebral fissure | Occasional (29-5%) |
| HP:0030084 | Clinodactyly | Occasional (29-5%) |
| HP:0000199 | Tongue nodules | Very rare (4-1%) |
| HP:0000648 | Optic atrophy | Very rare (4-1%) |
| HP:0000767 | Pectus excavatum | Very rare (4-1%) |
| HP:0000879 | Short sternum | Very rare (4-1%) |
| HP:0001636 | Tetralogy of Fallot | Very rare (4-1%) |
| HP:0002089 | Pulmonary hypoplasia | Very rare (4-1%) |
| HP:0002246 | Abnormality of the duodenum | Very rare (4-1%) |
| HP:0009085 | Alveolar ridge overgrowth | Very rare (4-1%) |
| HP:0010720 | Abnormal hair pattern | Very rare (4-1%) |
| HP:0011445 | Athetoid cerebral palsy | Very rare (4-1%) |
| HP:0100259 | Postaxial polydactyly | Very rare (4-1%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001762 | Talipes equinovarus | 3 |
| HP:0005301 | Persistent left superior vena cava | 3 |
| HP:0000347 | Micrognathia | 2 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000162 | Glossoptosis | 1 |
| HP:0000448 | Prominent nose | 1 |
| HP:0000565 | Esotropia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0011968 | Feeding difficulties | 1 |