| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (35.3%) |
7094393 |
An unusual connective tissue disease in mother and son: a "new" type of Ehlers-Danlos syndrome? Friedman JM, Harrod MJ. Clin Genet. 1982;21(3):168-73. |
| Prominent nasal bridge Cigarette-paper scars | ||
| SON | ||
| Adult Child, Preschool Connective Tissue Diseases Ehlers-Danlos Syndrome Females Genes, Dominant Homo sapiens Male | ||
| 2 (23.3%) |
28757364 |
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis. van Dijk FS, Mancini GMS, Maugeri A, Cobben JM. Eur J Med Genet. 2017;60(10):536-540. |
| Scoliosis | ||
| COL5A1 PLOD1 | ||
| Child Delayed Diagnosis Differential Diagnosis Ehlers-Danlos Syndrome Females Homo sapiens Male Mutation Phenotype Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase | ||
| 2 (23.3%) |
8083268 |
Spinal deformity in Ehlers-Danlos syndrome. Five patients treated by spinal fusion. McMaster MJ. J Bone Joint Surg Br. 1994;76(5):773-7. |
| Scoliosis | ||
| Child, Preschool Ehlers-Danlos Syndrome Females Follow-Up Studies Homo sapiens Infant Wound Healing | ||
| 4 (20.4%) |
29520887 |
Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1. Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Kurosawa K. Congenit Anom (Kyoto). 2018;58(6):191-193. |
| Atrophic scars Joint hypermobility | ||
| COL5A1 COL5A2 | ||
| Chromosomal Duplication Chromosome Mapping Chromosomes, Human, Pair 9 Collagen Type V Ehlers-Danlos Syndrome Exons Facies Fluorescent in Situ Hybridization Genetic Association Studies Genotype Homo sapiens Male Mutation Phenotype Skin Young Adult | ||
| 4 (20.4%) |
28102596 |
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M. Am J Med Genet A. 2017;173(2):524-530. |
| Hyperextensible skin Joint hypermobility | ||
| COL1A1 | ||
| c|SUB|C|934|T;RS#:72645347 p|SUB|R|312|C;RS#:72645347 | ||
| Adult Alleles Amino Acid Substitution Collagen Type I, alpha 1 Chain Ehlers-Danlos Syndrome Females Homo sapiens Male Middle Aged Mutation Phenotype Young Adult | ||
| 4 (20.4%) |
27852077 |
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review. Ciaccio C, Dordoni C, Ritelli M, Colombi M. Cytogenet Genome Res. 2016;150(1):40-45. |
| Intellectual disability Joint hypermobility | ||
| CRHR1 KANSL1 MAPT SPPL2C STH | ||
| Adult Aging Child Chromosome Deletion Chromosomes, Human, Pair 17 Delayed Diagnosis Developmental Disabilities Diagnostic Errors Ehlers-Danlos Syndrome Epilepsy Females Homo sapiens Intellectual Disability Male Middle Aged Phenotype Young Adult | ||
| 4 (20.4%) |
15793839 |
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Lindor NM, Bristow J. Am J Med Genet A. 2005;135(1):75-80. |
| Poor wound healing Joint laxity | ||
| TNXB | ||
| Adult Ehlers-Danlos Syndrome Females Genes, Recessive Homo sapiens Male Middle Aged Tenascin | ||
| 4 (20.4%) |
10739762 |
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Am J Hum Genet. 2000;66(4):1398-402. |
| Joint hypermobility | ||
| p|SUB|R||C rs1555573789 rs1555575085 rs1800214 rs72645347 | ||
| Amino Acid Motifs Amino Acid Sequence Amino Acid Substitution Base Sequence Child Child, Preschool DNA Mutational Analysis Dimerization Disulfides Ehlers-Danlos Syndrome Exons Females Fibroblasts Genetic Heterogeneity Homo sapiens Male Mutation Single-Stranded Conformational Polymorphism | ||
| 9 (17.5%) |
22068801 |
Classical Ehlers-Danlos syndrome: clinical, Histological and ultrastructural aspects. Bicca Ede B, Almeida FB, Pinto GM, Castro LA, Almeida HL Jr. An Bras Dermatol. 2011;86(4 Suppl 1):S164-7. |
| Scarring | ||
| Child Ehlers-Danlos Syndrome Homo sapiens Male Skin Transmission Electron Microscopy | ||
| 10 (4.0%) |
27739212 |
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M. Am J Med Genet A. 2017;173(1):169-176. |
| Falls | ||
| FLNA | ||
| c|SUB|G|1829-1|C p|DEL|611,615| rs1557175308 rs1557179659 rs782190081 | ||
| Child Child, Preschool Ehlers-Danlos Syndrome Exome Fatal Outcome Females Filamins Genes, X-Linked Genetic Association Studies High-Throughput Nucleotide Sequencing Homo sapiens Magnetic Resonance Imaging Male Middle Aged Mutation Phenotype RNA Splice Sites |
Total: 74
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000157 | Abnormality of the tongue | Very frequent (99-80%) |
| HP:0000168 | Abnormality of the gingiva | Very frequent (99-80%) |
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000501 | Glaucoma | Very frequent (99-80%) |
| HP:0000768 | Pectus carinatum | Very frequent (99-80%) |
| HP:0000822 | Hypertension | Very frequent (99-80%) |
| HP:0000964 | Eczema | Very frequent (99-80%) |
| HP:0000967 | Petechiae | Very frequent (99-80%) |
| HP:0000974 | Hyperextensible skin | Very frequent (99-80%) |
| HP:0000987 | Atypical scarring of skin | Very frequent (99-80%) |
| HP:0001065 | Striae distensae | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0002097 | Emphysema | Very frequent (99-80%) |
| HP:0002099 | Asthma | Very frequent (99-80%) |
| HP:0002615 | Hypotension | Very frequent (99-80%) |
| HP:0002705 | High, narrow palate | Very frequent (99-80%) |
| HP:0003298 | Spina bifida occulta | Very frequent (99-80%) |
| HP:0003307 | Hyperlordosis | Very frequent (99-80%) |
| HP:0005105 | Abnormal nasal morphology | Very frequent (99-80%) |
| HP:0005294 | Arterial dissection | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0009721 | Shagreen patch | Very frequent (99-80%) |
| HP:0010620 | Malar prominence | Very frequent (99-80%) |
| HP:0011830 | Abnormal oral mucosa morphology | Very frequent (99-80%) |
| HP:0000275 | Narrow face | Frequent (79-30%) |
| HP:0000963 | Thin skin | Frequent (79-30%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0001063 | Acrocyanosis | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001622 | Premature birth | Frequent (79-30%) |
| HP:0001634 | Mitral valve prolapse | Frequent (79-30%) |
| HP:0001704 | Tricuspid valve prolapse | Frequent (79-30%) |
| HP:0002036 | Hiatus hernia | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0003326 | Myalgia | Frequent (79-30%) |
| HP:0005293 | Venous insufficiency | Frequent (79-30%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent (79-30%) |
| HP:0010783 | Erythema | Frequent (79-30%) |
| HP:0100720 | Hypoplasia of the ear cartilage | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000091 | Abnormal renal tubule morphology | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000482 | Microcornea | Occasional (29-5%) |
| HP:0000541 | Retinal detachment | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000689 | Dental malocclusion | Occasional (29-5%) |
| HP:0000691 | Microdontia | Occasional (29-5%) |
| HP:0001025 | Urticaria | Occasional (29-5%) |
| HP:0001083 | Ectopia lentis | Occasional (29-5%) |
| HP:0001119 | Keratoglobus | Occasional (29-5%) |
| HP:0001131 | Corneal dystrophy | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0002076 | Migraine | Occasional (29-5%) |
| HP:0002107 | Pneumothorax | Occasional (29-5%) |
| HP:0002758 | Osteoarthritis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004326 | Cachexia | Occasional (29-5%) |
| HP:0004372 | Reduced consciousness/confusion | Occasional (29-5%) |
| HP:0005111 | obsolete Dilatation of the ascending aorta | Occasional (29-5%) |
| HP:0009804 | Reduced number of teeth | Occasional (29-5%) |
| HP:0010807 | Open bite | Occasional (29-5%) |
| HP:0012378 | Fatigue | Occasional (29-5%) |
| HP:0100326 | Immunologic hypersensitivity | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
| HP:0100818 | Long thorax | Occasional (29-5%) |
| HP:0100823 | Genital hernia | Occasional (29-5%) |
| HP:0200034 | Papule | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001382 | Joint hypermobility | 2 |
| HP:0000974 | Hyperextensible skin | 1 |
| HP:0000977 | Soft skin | 1 |
| HP:0001058 | Poor wound healing | 1 |
| HP:0001075 | Atrophic scars | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0005294 | Arterial dissection | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0100699 | Scarring | 1 |