| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.1%) |
8456831 |
Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Ohashi H, Tsukahara M, Murano I, Fujita K, Matsuura S, Fukushima Y, Kajii T. Am J Med Genet. 1993;45(5):597-600. |
| Microcephaly Brachydactyly | ||
| Adult Deafness Females Genes, Recessive Growth Disorders Homo sapiens Immunologic Deficiency Syndromes Intellectual Disability Microcephaly Syndrome Werner Syndrome | ||
| 2 (44.8%) |
7815440 |
Mulvihill-Smith syndrome: case report and review. Bartsch O, Tympner KD, Schwinger E, Gorlin RJ. J Med Genet. 1994;31(9):707-11. |
| Microcephaly Conjunctivitis Hypodontia | ||
| Adult Ectodermal Dysplasia Homo sapiens Immunologic Deficiency Syndromes Male Skin Neoplasms Syndrome | ||
| 3 (43.3%) |
24397283 (3890486) |
The eleventh reported case of Mulvihill-Smith syndrome in the literature. Breinis P, Alves FG, Alves CA, Cintra RG, Almeida D, Passarelli PC, Domingues C, Gerbim T, Gasparetto R, de Abreu LC, Valenti VE, de Oliveira AG, de Mello Monteiro CB, Wajnzstejn R. BMC Neurol. 2014;14:4. |
| Microcephaly Allergic conjunctivitis | ||
| Growth Disorders Homo sapiens Male Progeria Young Adult | ||
| 4 (39.0%) |
19213035 |
Case report: Adult phenotype of Mulvihill-Smith syndrome. Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Am J Med Genet A. 2009;149A(3):496-500. |
| Microcephaly | ||
| Adult Brain Dementia Females Homo sapiens Magnetic Resonance Imaging Memory Disorders Microcephaly Phenotype Sleep Initiation and Maintenance Disorders Sleep Wake Disorders Tomography, Emission-Computed, Single-Photon | ||
| 4 (39.0%) |
17633848 |
[Anesthetic management of a patient with Mulvihill-Smith syndrome]. Kuribayashi J, Yamada T, Morisaki H, Takeda J. Masui. 2007;56(7):835-7. |
| Microcephaly | ||
| Adult Cyst Dwarfism Females General Anesthesia Homo sapiens Keratoplasty Laryngeal Masks Mandibular Diseases Microcephaly Perioperative Care Syndrome | ||
| 6 (29.4%) |
27268268 |
Retinal features in Mulvihill-Smith syndrome. Tyagi P, Juma Z, Reddy AR. Ophthalmic Genet. 2017;38(2):183-186. |
| Astigmatism Allergic conjunctivitis | ||
| Adult Electrooculography Electroretinography Fluorescein Angiography Growth Disorders Homo sapiens Male Photoreceptor Cells, Vertebrate Progeria Retinal Diseases Tomography, Optical Coherence Visual Acuity | ||
| 7 (4.0%) |
21439014 |
Suspicious pigmented tumor in Mulvihill-Smith syndrome. Fuhler-Stiller M, Tronnier M. J Dtsch Dermatol Ges. 2011;9(4):308-11. |
| Melanocytic nevus | ||
| Differential Diagnosis Growth Disorders Homo sapiens Male Progeria Skin Neoplasms | ||
| 7 (4.0%) |
16364148 |
Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome). Ferri R, Lanuzza B, Cosentino FI, Iero I, Russo N, Tripodi M, Bosco P. J Sleep Res. 2005;14(4):463-70. |
| Chorea | ||
| PRNP | ||
| Adult Amyloid Body Height Brain Cardiac Arrhythmia Cognition Disorders Electrocardiography Electromyography Electrooculography Females Homo sapiens Magnetic Resonance Imaging Myokymia Neuropsychological Tests Polysomnography Prion Proteins Prions Progeria Protein Precursors Severity of Illness Index Syndrome Terminology as Topic Video Recording | ||
| 7 (4.0%) |
7933910 |
[Keratoconus in Mulvihill-Smith syndrome]. Rau S, Duncker GI. Klin Monbl Augenheilkd. 1994;205(1):44-6. |
| Keratoconus | ||
| Adult Ectodermal Dysplasia Homo sapiens Immunologic Deficiency Syndromes Keratoconus Keratoplasty, Penetrating Male Syndrome |
Total: 56
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000047 | Hypospadias | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Very frequent (99-80%) |
| HP:0000193 | Bifid uvula | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000320 | Bird-like facies | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000408 | Progressive sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000529 | Progressive visual loss | Very frequent (99-80%) |
| HP:0000585 | Band keratopathy | Very frequent (99-80%) |
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0000689 | Dental malocclusion | Very frequent (99-80%) |
| HP:0000815 | Hypergonadotropic hypogonadism | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Very frequent (99-80%) |
| HP:0000831 | Insulin-resistant diabetes mellitus | Very frequent (99-80%) |
| HP:0000938 | Osteopenia | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001397 | Hepatic steatosis | Very frequent (99-80%) |
| HP:0001518 | Small for gestational age | Very frequent (99-80%) |
| HP:0001592 | Selective tooth agenesis | Very frequent (99-80%) |
| HP:0001596 | Alopecia | Very frequent (99-80%) |
| HP:0001620 | High pitched voice | Very frequent (99-80%) |
| HP:0002020 | Gastroesophageal reflux | Very frequent (99-80%) |
| HP:0002136 | Broad-based gait | Very frequent (99-80%) |
| HP:0002162 | Low posterior hairline | Very frequent (99-80%) |
| HP:0002360 | Sleep disturbance | Very frequent (99-80%) |
| HP:0002721 | Immunodeficiency | Very frequent (99-80%) |
| HP:0002828 | Multiple joint contractures | Very frequent (99-80%) |
| HP:0002910 | Elevated hepatic transaminase | Very frequent (99-80%) |
| HP:0003401 | Paresthesia | Very frequent (99-80%) |
| HP:0003808 | Abnormal muscle tone | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005115 | Supraventricular arrhythmia | Very frequent (99-80%) |
| HP:0005320 | Lack of facial subcutaneous fat | Very frequent (99-80%) |
| HP:0005328 | Progeroid facial appearance | Very frequent (99-80%) |
| HP:0005364 | obsolete Severe viral infections | Very frequent (99-80%) |
| HP:0005403 | Decrease in T cell count | Very frequent (99-80%) |
| HP:0007481 | Hyperpigmented nevi | Very frequent (99-80%) |
| HP:0007495 | Prematurely aged appearance | Very frequent (99-80%) |
| HP:0008209 | Premature ovarian insufficiency | Very frequent (99-80%) |
| HP:0008214 | Decreased serum estradiol | Very frequent (99-80%) |
| HP:0008230 | obsolete Decreased testosterone in males | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0010536 | Central sleep apnea | Very frequent (99-80%) |
| HP:0010663 | Abnormality of thalamus morphology | Very frequent (99-80%) |
| HP:0025124 | Fragile teeth | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0100785 | Insomnia | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001270 | Motor delay | Occasional (29-5%) |
| HP:0001935 | Microcytic anemia | Occasional (29-5%) |
| HP:0002572 | Episodic vomiting | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002894 | Neoplasm of the pancreas | Occasional (29-5%) |
| HP:0002943 | Thoracic scoliosis | Occasional (29-5%) |
| HP:0040160 | Generalized osteoporosis | Occasional (29-5%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004322 | Short stature | 3 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000995 | Melanocytic nevus | 1 |
| HP:0002072 | Chorea | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0100543 | Cognitive impairment | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|