| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.3%) |
8135609 |
[Coffin-Lowry syndrome and hyperprolinemia]. Lacombe D, Parrot-Roulaud F, Castell JF, Serville F, Hehunstre JP, Battin J. Arch Fr Pediatr. 1993;50(6):489-92. |
| Anteverted nares Telecanthus Tapered finger Kyphoscoliosis | ||
| Adult Child, Preschool Congenital Hand Deformities Females Homo sapiens Intellectual Disability Male Syndrome X Chromosome | ||
| 2 (54.4%) |
26043507 |
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. Tos T, Alp MY, Aksoy A, Ceylaner S, Hanauer A. Genet Couns. 2015;26(1):47-52. |
| Microcephaly Tapered finger Prominent forehead | ||
| RPS6KA3 | ||
| c|SUB|C|898|T rs1555927554 rs1555927575 rs1555939377 rs1555943503 | ||
| Brain Child Child, Preschool Females Homo sapiens Male Mutation Ribosomal Protein S6 Kinases, 90-kDa Sibling | ||
| 3 (53.5%) |
17249444 |
Coffin-Lowry syndrome: findings and dental treatment. Wasersprung D, Sarnat H. Spec Care Dentist. 2006;26(5):220-4. |
| Gingivitis Tapered finger | ||
| Child Dental Care for Children Dental Care for Chronically Ill Facies Homo sapiens Incisor Male Malocclusion Maxilla Maxillofacial Abnormalities Prognathism | ||
| 4 (53.2%) |
10528858 |
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. Manouvrier-Hanu S, Amiel J, Jacquot S, Merienne K, Moerman A, Coeslier A, Labarriere F, Vallee L, Croquette MF, Hanauer A. J Med Genet. 1999;36(10):775-8. |
| Macrocephaly Tapered finger | ||
| RPS6KA3 | ||
| rs122454130 | ||
| Child Homo sapiens Intellectual Disability Male Missense Mutation Phenotype Ribosomal Protein S6 Kinase Syndrome X Chromosome | ||
| 5 (42.7%) |
29245289 (5728904) |
Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review. Hirakawa M, Nishihara T, Nakanishi K, Kitamura S, Fujii S, Ikemune K, Dote K, Takasaki Y, Yorozuya T. Medicine (Baltimore). 2017;96(49):e9026. |
| Retrognathia | ||
| Adult Airway Management Homo sapiens Intellectual Disability Intubation, Intratracheal Laminectomy Male Sleep Apnea Syndromes | ||
| 6 (41.7%) |
24601120 |
[Boy with Coffin-Lowry syndrome associated with spinal cord injuries]. Kawana Y, Okamura K, Kurahashi K. Masui. 2014;63(2):203-5. |
| Wide mouth Microcephaly | ||
| Airway Extubation Airway Management Cervical Vertebrae Child Homo sapiens Intubation, Intratracheal Laryngeal Masks Male Perioperative Care Spinal Injuries | ||
| 7 (40.1%) |
25354065 |
[Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia]. Garcia-Suarez A, Dansac-Rivera AB. Rev Med Inst Mex Seguro Soc. 2014;52(6):692-5. |
| Wide mouth Scoliosis | ||
| Cervical Vertebrae Decompression, Surgical Fatal Outcome Homo sapiens Male Spinal Canal Spinal Cord | ||
| 7 (40.1%) |
1605226 |
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Proud VK, Levine C, Carpenter NJ. Am J Med Genet. 1992;43(1-2):458-66. |
| Broad alveolar ridges Scoliosis | ||
| rs104894745 rs1057520143 rs1057524942 rs1556055108 rs1556055232 rs1556058116 rs387906492 rs398124508 rs587783186 rs746120093 rs755745002 rs999545482 | ||
| Adult Child DNA Females Heterozygote Homo sapiens Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Seizures Syndrome X Chromosome | ||
| 9 (35.4%) |
25044551 |
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG. Am J Med Genet A. 2014;164A(9):2172-9. |
| Tapered finger | ||
| RPS6KA3 | ||
| rs1555927554 rs1555927575 rs1555939377 rs1555943503 | ||
| Amino Acid Sequence Base Sequence Child Child, Preschool Family Homo sapiens Infant Male Molecular Sequence Data Mutation Ribosomal Protein S6 Kinases, 90-kDa | ||
| 9 (35.4%) |
21614984 |
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome. Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP. Genet Couns. 2011;22(1):21-4. |
| Tapered finger | ||
| RPS6KA3 | ||
| Child Exons Homo sapiens Male Missense Mutation Ribosomal Protein S6 Kinases, 90-kDa Spina Bifida |
Total: 72
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000194 | Open mouth | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0000687 | Widely spaced teeth | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0000768 | Pectus carinatum | Very frequent (99-80%) |
| HP:0000940 | Abnormal diaphysis morphology | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001176 | Large hands | Very frequent (99-80%) |
| HP:0001182 | Tapered finger | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001500 | Broad finger | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004493 | Craniofacial hyperostosis | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0006482 | Abnormality of dental morphology | Very frequent (99-80%) |
| HP:0009928 | Thick nasal alae | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000189 | Narrow palate | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000327 | Hypoplasia of the maxilla | Frequent (79-30%) |
| HP:0000411 | Protruding ear | Frequent (79-30%) |
| HP:0000445 | Wide nose | Frequent (79-30%) |
| HP:0001276 | Hypertonia | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001582 | Redundant skin | Frequent (79-30%) |
| HP:0001763 | Pes planus | Frequent (79-30%) |
| HP:0001804 | Hypoplastic fingernail | Frequent (79-30%) |
| HP:0001812 | Hyperconvex fingernails | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0002191 | Progressive spasticity | Frequent (79-30%) |
| HP:0002868 | Narrow iliac wings | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0009193 | Pseudoepiphyses of the metacarpals | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0010049 | Short metacarpal | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001324 | Muscle weakness | Occasional (29-5%) |
| HP:0001633 | Abnormal mitral valve morphology | Occasional (29-5%) |
| HP:0001646 | Abnormal aortic valve morphology | Occasional (29-5%) |
| HP:0001702 | Abnormal tricuspid valve morphology | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002269 | Abnormality of neuronal migration | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0006288 | Advanced eruption of teeth | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (29-5%) |
| HP:0010535 | Sleep apnea | Occasional (29-5%) |
| HP:0100613 | Death in early adulthood | Occasional (29-5%) |
| HP:0100716 | Self-injurious behavior | Occasional (29-5%) |
Total: 32
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001182 | Tapered finger | 5 |
| HP:0004322 | Short stature | 5 |
| HP:0000316 | Hypertelorism | 3 |
| HP:0001249 | Intellectual disability | 3 |
| HP:0000154 | Wide mouth | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0002524 | Cataplexy | 2 |
| HP:0002650 | Scoliosis | 2 |
| HP:0002751 | Kyphoscoliosis | 2 |
| HP:0011220 | Prominent forehead | 2 |
| HP:0000768 | Pectus carinatum | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002318 | Cervical myelopathy | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002817 | Abnormality of the upper limb | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0003196 | Short nose | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0006129 | Drumstick terminal phalanges | 1 |
| HP:0006323 | Premature loss of primary teeth | 1 |
| HP:0008358 | Hyperprolinemia | 1 |
| HP:0010807 | Open bite | 1 |
| HP:0025403 | Stooped posture | 1 |
| HP:0030050 | Narcolepsy | 1 |
| HP:0031273 | Shock | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |