| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.0%) |
25394726 (5589071) |
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Am J Med Genet A. 2015;167A(2):271-81. |
| Narrow palate Micrognathia Telecanthus | ||
| NOTCH2 NOTCH3 | ||
| c|DEL|6461_6486| c|INS|6692_93|C c|SUB|A|6247|T;RS#:796065045 c|SUB|C|6663|G c|SUB|C|6732|A p|Y|2221|* p|Y|2244|* rs1555729077 rs773656789 rs780169747 rs796065045 rs869312909 rs869312910 rs869312911 | ||
| Child Child, Preschool DNA Mutational Analysis Exome Exons Facies High-Throughput Nucleotide Sequencing Homo sapiens Magnetic Resonance Imaging Male Mutation Phenotype Receptor, Notch3 Receptors, Notch Young Adult | ||
| 2 (60.5%) |
29242787 (5727990) |
Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature. Shah AB, Tisano BK, Elattar O, Staggers JR, Naranje S. J Orthop Case Rep. 2017;7(5):11-15. |
| Micrognathia Premature loss of teeth | ||
| 3 (48.0%) |
30420927 (6215579) |
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Swan L, Gole G, Sabesan V, Cardinal J, Coman D. Case Rep Genet. 2018;2018:2508345. |
| Wormian bones Serpentine fibula | ||
| HLCS NOTCH2 | ||
| 3 (48.0%) |
23401378 |
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. Narumi Y, Min BJ, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T, Rhee Y, Chung YS, Kim OH, Fukushima Y, Park WY, Nishimura G. Am J Med Genet A. 2013;161A(3):518-26. |
| Wormian bones Serpentine fibula | ||
| NOTCH2 | ||
| Adult Child, Preschool Codon, Nonsense DNA Mutational Analysis Exons Genetic Association Studies Hajdu-Cheney Syndrome Homo sapiens Middle Aged Receptor, Notch2 Young Adult | ||
| 3 (48.0%) |
17159511 |
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA. Clin Dysmorphol. 2007;16(1):27-33. |
| Wormian bones Serpentine fibula | ||
| FLNA FLNB FLNC | ||
| rs387906749 | ||
| Alleles Child Contractile Proteins DNA Mutational Analysis Females Filamins Hajdu-Cheney Syndrome Homo sapiens Male Microfilament Proteins Osteochondrodysplasias Phenotype Polycystic Kidney Diseases | ||
| 6 (42.3%) |
17103436 |
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brondum-Nielsen K. Am J Med Genet A. 2006;140(24):2709-13. |
| Blepharophimosis Arthropathy | ||
| Acro-Osteolysis Adult Blepharophimosis Connective Tissue Corneal Neovascularization Craniofacial Abnormalities Differential Diagnosis Ectodermal Dysplasia Homo sapiens Male Oligospermia Syndactyly Syndrome | ||
| 7 (40.2%) |
7266868 |
Hadju-Cheney syndrome. Report of a non-familial case. Kawamura J, Matsubayashi K, Ogawa M. Neuroradiology. 1981;21(5):295-301. |
| Osteolysis Basilar impression Facial tics | ||
| Adult Bone Resorption Fingers Homo sapiens Male Osteolysis Osteoporosis Syndrome | ||
| 8 (39.3%) |
17760556 |
Periodontitis associated with Hajdu-Cheney syndrome. Bazopoulou-Kyrkanidou E, Vrahopoulos TP, Eliades G, Vastardis H, Tosios K, Vrotsos IA. J Periodontol. 2007;78(9):1831-8. |
| Small face Periodontitis Osteoporosis | ||
| Adult Alveolar Bone Loss Cephalometry Facies Females Furcation Defects Hajdu-Cheney Syndrome Homo sapiens Periodontitis Tooth Mobility | ||
| 8 (39.3%) |
707523 |
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). Elias AN, Pinals RS, Anderson HC, Gould LV, Streeten DH. Am J Med. 1978;65(4):627-36. |
| Osteoporosis Premature loss of teeth | ||
| Adult Bone Resorption Bone and Bones Child Females Fingers Hand Homo sapiens Male Osteolysis Syndrome | ||
| 10 (39.0%) |
29103128 |
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. Woon CYL, Mardjetko SM. Eur Spine J. 2018;27(Suppl 3):403-408. |
| Osteoporosis Basilar invagination | ||
| Adult Craniotomy Females Hajdu-Cheney Syndrome Homo sapiens Laminectomy Magnetic Resonance Imaging Osteoporosis Platybasia X-Ray Computed Tomography Young Adult |
Total: 86
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000494 | Downslanted palpebral fissures | Very frequent (99-80%) |
| HP:0000574 | Thick eyebrow | Very frequent (99-80%) |
| HP:0000704 | Periodontitis | Very frequent (99-80%) |
| HP:0000929 | Abnormal skull morphology | Very frequent (99-80%) |
| HP:0000938 | Osteopenia | Very frequent (99-80%) |
| HP:0000939 | Osteoporosis | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001831 | Short toe | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002797 | Osteolysis | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004331 | Decreased skull ossification | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0011305 | Partial absence of toe | Very frequent (99-80%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000233 | Thin vermilion border | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Frequent (79-30%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0000269 | Prominent occiput | Frequent (79-30%) |
| HP:0000277 | Abnormality of the mandible | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000445 | Wide nose | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0001231 | Abnormal fingernail morphology | Frequent (79-30%) |
| HP:0002230 | Generalized hirsutism | Frequent (79-30%) |
| HP:0002308 | Arnold-Chiari malformation | Frequent (79-30%) |
| HP:0002645 | Wormian bones | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002653 | Bone pain | Frequent (79-30%) |
| HP:0002688 | Absent frontal sinuses | Frequent (79-30%) |
| HP:0002691 | Platybasia | Frequent (79-30%) |
| HP:0002714 | Downturned corners of mouth | Frequent (79-30%) |
| HP:0002757 | Recurrent fractures | Frequent (79-30%) |
| HP:0002829 | Arthralgia | Frequent (79-30%) |
| HP:0004586 | Biconcave vertebral bodies | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0008424 | Hypoplastic 5th lumbar vertebrae | Frequent (79-30%) |
| HP:0010807 | Open bite | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000294 | Low anterior hairline | Occasional (29-5%) |
| HP:0000369 | Low-set ears | Occasional (29-5%) |
| HP:0000431 | Wide nasal bridge | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000612 | Iris coloboma | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000768 | Pectus carinatum | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0000958 | Dry skin | Occasional (29-5%) |
| HP:0001072 | Thickened skin | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001608 | Abnormality of the voice | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001650 | Aortic valve stenosis | Occasional (29-5%) |
| HP:0001718 | Mitral stenosis | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002208 | Coarse hair | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002315 | Headache | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002999 | Patellar dislocation | Occasional (29-5%) |
| HP:0003396 | Syringomyelia | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Occasional (29-5%) |
| HP:0100670 | Rough bone trabeculation | Occasional (29-5%) |
| HP:0100790 | Hernia | Occasional (29-5%) |
| HP:0200042 | Skin ulcer | Occasional (29-5%) |
Total: 42
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002797 | Osteolysis | 23 |
| HP:0000939 | Osteoporosis | 13 |
| HP:0002652 | Skeletal dysplasia | 8 |
| HP:0004322 | Short stature | 7 |
| HP:0030045 | Serpentine fibula | 6 |
| HP:0040160 | Generalized osteoporosis | 4 |
| HP:0002645 | Wormian bones | 3 |
| HP:0001388 | Joint laxity | 2 |
| HP:0006480 | Premature loss of teeth | 2 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000166 | Severe periodontitis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000704 | Periodontitis | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000938 | Osteopenia | 1 |
| HP:0001382 | Joint hypermobility | 1 |
| HP:0001605 | Vocal cord paralysis | 1 |
| HP:0001609 | Hoarse voice | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001953 | Diabetic ketoacidosis | 1 |
| HP:0002318 | Cervical myelopathy | 1 |
| HP:0002341 | Cervical cord compression | 1 |
| HP:0002435 | Meningocele | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002691 | Platybasia | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002756 | Pathologic fracture | 1 |
| HP:0002781 | Upper airway obstruction | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0003401 | Paresthesia | 1 |
| HP:0003508 | Proportionate short stature | 1 |
| HP:0005462 | Calcification of falx cerebri | 1 |
| HP:0005758 | Basilar impression | 1 |
| HP:0008462 | Cervical instability | 1 |
| HP:0012366 | Basilar invagination | 1 |
| HP:0100775 | Dural ectasia | 1 |