| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.2%) |
9880610 |
Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature. Mentzel HJ, Seidel J, Vogt S, Vogt L, Kaiser WA. Pediatr Radiol. 1999;29(1):19-22. |
| Broad clavicles Deformed radius | ||
| rs797045334 | ||
| Aneurysm Cutis Laxa Ehlers-Danlos Syndrome Follow-Up Studies Homo sapiens Magnetic Resonance Imaging Male Ultrasonography, Doppler, Color X-Ray Computed Tomography | ||
| 1 (43.2%) |
8149649 |
Occipital horn syndrome: report of a patient and review of the literature. Tsukahara M, Imaizumi K, Kawai S, Kajii T. Clin Genet. 1994;45(1):32-5. |
| Broad clavicles Deformed radius | ||
| Ehlers-Danlos Syndrome Family Homo sapiens Male Phenotype | ||
| 3 (21.2%) |
8099605 |
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case. Wakai S, Ishikawa Y, Nagaoka M, Okabe M, Minami R, Hayakawa T. J Neurol Sci. 1993;116(1):1-5. |
| Bladder diverticulum Osteoporosis | ||
| CP | ||
| Adult Ceruloplasmin Ehlers-Danlos Syndrome Homo sapiens Male Monoamine Oxidase Muscle Tissue Protein-Lysine 6-Oxidase Skin | ||
| 3 (21.2%) |
1682078 |
[Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case]. Wakai S, Ishikawa Y, Nagaoka M, Minami R, Hayakawa T. Rinsho Shinkeigaku. 1991;31(5):534-8. |
| Bladder diverticulum Joint subluxation | ||
| CP | ||
| Adult Ceruloplasmin Ehlers-Danlos Syndrome Electron Microscopy Homo sapiens Intellectual Disability Japan Male Muscle Tissue Muscular Atrophy Protein-Lysine 6-Oxidase Skin | ||
| 5 (17.5%) |
8060085 |
Menkes' syndrome: wound healing in a long-term survivor. al-Qattan MM, Thomson HG. Ann Plast Surg. 1994;32(5):550-2. |
| Scarring | ||
| Cicatrix Cutis Laxa Elastic Tissue Follow-Up Studies Homo sapiens Male Menkes Kinky Hair Syndrome Skin Suture Techniques Wound Healing | ||
| 6 (4.0%) |
26386812 |
[Multiple bladder diverticula caused by occipital horn syndrome]. Legros L, Revencu N, Nassogne MC, Wese FX, Feyaerts A. Arch Pediatr. 2015;22(11):1147-50. |
| Bladder diverticulum | ||
| Child, Preschool Cutis Laxa Diverticulum Ehlers-Danlos Syndrome Homo sapiens Male Urinary Bladder | ||
| 6 (4.0%) |
22134099 (3385410) |
Increased frequency of congenital heart defects in Menkes disease. Hicks JD, Donsante A, Pierson TM, Gillespie MJ, Chou DE, Kaler SG. Clin Dysmorphol. 2012;21(2):59-63. |
| Aortic aneurysm | ||
| ATP7A | ||
| Adenosine Triphosphatases Cation Transport Proteins Congenital Heart Defects Copper-Transporting ATPases Fatal Outcome Homo sapiens Infant Infant, Newborn Male Menkes Kinky Hair Syndrome Mutation | ||
| 6 (4.0%) |
17958802 |
Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn. Koklu E, Gunes T, Ozturk MA, Akcakus M, Buyukkayhan D, Kurtoglu S. Pediatr Dermatol. 2007;24(5):525-8. |
| Neoplasm | ||
| Congenital Hypothyroidism Cutis Laxa Fatal Outcome Females Genes, Recessive Homo sapiens Infant, Newborn | ||
| 6 (4.0%) |
17496194 |
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. J Med Genet. 2007;44(8):492-7. |
| Cardiac arrest | ||
| DBH | ||
| p|SUB|A|1362|D p|SUB|S|637|L;RS#:151340631 | ||
| Adenosine Triphosphatases Cation Transport Proteins Cerebellum Child, Preschool Copper-Transporting ATPases DNA Mutational Analysis Family Gene Expression Regulation Genetic Complementation Test Homo sapiens Infant Male Menkes Kinky Hair Syndrome Reverse Transcriptase Polymerase Chain Reaction Sibling Transcription, Genetic | ||
| 6 (4.0%) |
11669352 |
Neuropathology of occipital horn syndrome. Palmer CA, Percy AK. J Child Neurol. 2001;16(10):764-6. |
| Cerebellar hypoplasia | ||
| Adult Brain Child Child, Preschool Ehlers-Danlos Syndrome Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Muscle, Smooth, Vascular Neurons Pathologic Neovascularization Sex Chromosome Aberrations X Chromosome |
Total: 70
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000239 | Large fontanelles | Very frequent (99-80%) |
| HP:0000270 | Delayed cranial suture closure | Very frequent (99-80%) |
| HP:0000271 | Abnormality of the face | Very frequent (99-80%) |
| HP:0000929 | Abnormal skull morphology | Very frequent (99-80%) |
| HP:0000974 | Hyperextensible skin | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0002514 | Cerebral calcification | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0100777 | Exostoses | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0000926 | Platyspondyly | Frequent (79-30%) |
| HP:0000938 | Osteopenia | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0000952 | Jaundice | Frequent (79-30%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0000987 | Atypical scarring of skin | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001396 | Cholestasis | Frequent (79-30%) |
| HP:0002015 | Dysphagia | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002033 | Poor suck | Frequent (79-30%) |
| HP:0002036 | Hiatus hernia | Frequent (79-30%) |
| HP:0002045 | Hypothermia | Frequent (79-30%) |
| HP:0002578 | Gastroparesis | Frequent (79-30%) |
| HP:0002617 | Dilatation | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0002748 | Rickets | Frequent (79-30%) |
| HP:0002749 | Osteomalacia | Frequent (79-30%) |
| HP:0003019 | Abnormality of the wrist | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0004408 | Abnormality of the sense of smell | Frequent (79-30%) |
| HP:0005293 | Venous insufficiency | Frequent (79-30%) |
| HP:0010562 | Keloids | Frequent (79-30%) |
| HP:0012115 | Hepatitis | Frequent (79-30%) |
| HP:0025270 | Abnormality of esophagus physiology | Frequent (79-30%) |
| HP:0100240 | Synostosis of joints | Frequent (79-30%) |
| HP:0100633 | Esophagitis | Frequent (79-30%) |
| HP:0100699 | Scarring | Frequent (79-30%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
| HP:0000015 | Bladder diverticulum | Occasional (29-5%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0002208 | Coarse hair | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002673 | Coxa valga | Occasional (29-5%) |
| HP:0002797 | Osteolysis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002812 | Coxa vara | Occasional (29-5%) |
| HP:0002827 | Hip dislocation | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0002991 | Abnormality of fibula morphology | Occasional (29-5%) |
| HP:0003172 | Abnormality of the pubic bone | Occasional (29-5%) |
| HP:0003874 | Humerus varus | Occasional (29-5%) |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | Occasional (29-5%) |
| HP:0006507 | Aplasia/hypoplasia of the humerus | Occasional (29-5%) |
| HP:0006660 | Aplastic clavicle | Occasional (29-5%) |
| HP:0008818 | Large iliac wings | Occasional (29-5%) |
| HP:0009556 | Absent tibia | Occasional (29-5%) |
| HP:0100541 | Femoral hernia | Occasional (29-5%) |
| HP:0100874 | Thick hair | Occasional (29-5%) |
| HP:0200021 | Down-sloping shoulders | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000916 | Broad clavicles | 1 |
| HP:0001278 | Orthostatic hypotension | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002673 | Coxa valga | 1 |
| HP:0003977 | Deformed radius | 1 |
| HP:0012619 | Multiple bladder diverticula | 1 |
| HP:0025356 | Psychomotor retardation | 1 |