| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (21.2%) |
29681106 |
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC. Am J Med Genet A. 2018;176(5):1166-1174. |
| Osteopenia | ||
| ADAMTS3 CCBE1 DCHS1 FAT4 | ||
| Alleles Bone and Bones Brain Cadherins Calcium-Binding Proteins Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Craniofacial Abnormalities Facies Females Genetic Association Studies Genotype High-Throughput Nucleotide Sequencing Homo sapiens Infant Infant, Newborn Intellectual Disability Joint Instability Male Mutation Phenotype Sibling Tumor Suppressor Proteins | ||
| 12 (4.0%) |
29560340 (5852224) |
Hennekam Syndrome: A Case Report. Lee YG, Kim SC, Park SB, Kim MJ. Ann Rehabil Med. 2018;42(1):184-188. |
| Edema | ||
| 12 (4.0%) |
26686525 (4984268) |
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, Agaimy A, Harrer T. J Clin Immunol. 2016;36(1):19-27. |
| Intellectual disability | ||
| CCBE1 | ||
| p|SUB|C|174|Y | ||
| Adult Calcium-Binding Proteins Craniofacial Abnormalities DNA Mutational Analysis Females Gene Expression Regulation Homo sapiens Homozygote Lymphangiectasis, Intestinal Lymphedema Male Mutation Sibling Tumor Suppressor Proteins Young Adult | ||
| 12 (4.0%) |
25925991 (4630843) |
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J, , Rockman-Greenberg C. BMC Med Genet. 2015;16:28. |
| Intellectual disability | ||
| CCBE1 | ||
| Calcium-Binding Proteins Craniofacial Abnormalities DNA Mutational Analysis Females Genital Diseases, Male Genotype Homo sapiens Hypoalbuminemia Infant Lymphangiectasis, Intestinal Lymphatic System Lymphedema Pakistan Polydactyly Protein-Losing Enteropathies Single Nucleotide Polymorphism Tumor Suppressor Proteins | ||
| 12 (4.0%) |
24619057 |
Variable clinical presentation in primary lymphoedema: report of two cases. Ozyurt A, Sevinc E, Baykan A, Arslan D, Argun M, Pamukcu O, Uzum K. Clin Dysmorphol. 2014;23(3):83-7. |
| Abnormality of the lymphatic system | ||
| Child, Preschool Craniofacial Abnormalities Genital Diseases, Male Homo sapiens Lymphangiectasis, Intestinal Lymphedema | ||
| 12 (4.0%) |
23180957 |
Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia. Al Sinani S, Rawahi YA, Abdoon H. World J Gastroenterol. 2012;18(43):6333-7. |
| Hypoalbuminemia | ||
| Craniofacial Abnormalities Genetic Predisposition to Disease Genital Diseases, Male Heredity Homo sapiens Hypoalbuminemia Infant, Newborn Lymphangiectasis, Intestinal Lymphedema Male Phenotype Protein-Losing Enteropathies | ||
| 12 (4.0%) |
18984984 |
[A case of Hennekam syndrome presenting with massive pericardial effusion]. Nisli K, Oner N, Kayserili H, Ertugrul T. Turk Kardiyol Dern Ars. 2008;36(5):325-8. |
| Cardiomegaly | ||
| Child, Preschool Homo sapiens Lymphangiectasis, Intestinal Lymphatic System Lymphedema Male Syndrome | ||
| 12 (4.0%) |
16941717 |
Congenital pulmonary lymphangiectasis sequence: a rare, heterogeneous, and lethal etiology for prenatal pleural effusion. Wilson RD, Pawel B, Bebbington M, Johnson MP, Lim FY, Stamilio D, Silber A, Zakii E, Flake AW. Prenat Diagn. 2006;26(11):1058-61. |
| Pleural effusion | ||
| Adult Chylothorax Diabetes Mellitus, Insulin-Dependent Fatal Outcome Females Fetal Diseases Homo sapiens Infant, Newborn Infant, Premature, Diseases Lymphangiectasis Male Pregnancy Pregnancy in Diabetics Preterm Infant | ||
| 12 (4.0%) |
16780470 |
Cutaneous manifestations and massive genital involvement in Hennekam syndrome. Musumeci ML, Nasca MR, De Pasquale R, Schwartz RA, Micali G. Pediatr Dermatol. 2006;23(3):239-42. |
| Edema | ||
| Craniofacial Abnormalities Developmental Disabilities Genital Diseases, Male Homo sapiens Intellectual Disability Lymphangiectasis, Intestinal Lymphedema Male Syndrome | ||
| 12 (4.0%) |
16432772 |
[Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome]. Heruth M, Muller P, Liebscher L, Kurze G, Richter T. Klin Padiatr. 2006;218(1):27-30. |
| Malabsorption | ||
| Child Combined Modality Therapy Dietary Proteins Differential Diagnosis Electrolytes Follow-Up Studies Homo sapiens Lymphangiectasis Lymphangiectasis, Intestinal Lymphedema Male Protein-Losing Enteropathies Serum Albumin Vitamins |
Total: 51
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Very frequent (99-80%) |
| HP:0001004 | Lymphedema | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001530 | Mild postnatal growth retardation | Very frequent (99-80%) |
| HP:0001888 | Lymphopenia | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002024 | Malabsorption | Very frequent (99-80%) |
| HP:0004313 | Decreased antibody level in blood | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0006482 | Abnormality of dental morphology | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0009804 | Reduced number of teeth | Very frequent (99-80%) |
| HP:0011069 | Increased number of teeth | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0100764 | Lymphangioma | Very frequent (99-80%) |
| HP:0000212 | Gingival overgrowth | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000501 | Glaucoma | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001055 | Erysipelas | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001541 | Ascites | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002716 | Lymphadenopathy | Frequent (79-30%) |
| HP:0011830 | Abnormal oral mucosa morphology | Frequent (79-30%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0001302 | Pachygyria | Occasional (29-5%) |
| HP:0001363 | Craniosynostosis | Occasional (29-5%) |
| HP:0001698 | Pericardial effusion | Occasional (29-5%) |
| HP:0001760 | Abnormality of the foot | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002215 | Sparse axillary hair | Occasional (29-5%) |
| HP:0002901 | Hypocalcemia | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006521 | Pulmonary lymphangiectasia | Occasional (29-5%) |
| HP:0010310 | Chylothorax | Occasional (29-5%) |
| HP:0100026 | Arteriovenous malformation | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100835 | Benign neoplasm of the central nervous system | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012368 | Flat face | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0100540 | Palpebral edema | 1 |