atypical rett syndrome |
Disease ID | 1449 |
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Disease | atypical rett syndrome |
Definition | A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. |
Synonym | atypical rett syndrome (disorder) rett syndrome, atypical |
Orphanet | |
UMLS | C2748910 |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | Symbol | Locus(Total Locus:4) |
Disease ID | 1449 |
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Disease | atypical rett syndrome |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0000787 | Nephrolithiasis HP:0002119 | Ventriculomegaly HP:0000365 | Hearing impairment HP:0002213 | Fine hair HP:0002376 | Developmental regression HP:0000445 | Wide nose HP:0001257 | Spasticity HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0000154 | Wide mouth HP:0000343 | Long philtrum HP:0002120 | Cerebral cortical atrophy HP:0012471 | Thick vermilion border HP:0002020 | Gastroesophageal reflux HP:0002353 | EEG abnormality HP:0001250 | Seizures HP:0001163 | Abnormality of the metacarpal bones HP:0000252 | Microcephaly HP:0100022 | Abnormality of movement HP:0009896 | Abnormality of the antitragus HP:0004209 | Clinodactyly of the 5th finger HP:0001249 | Intellectual disability HP:0100490 | Camptodactyly of finger HP:0001231 | Abnormality of the fingernails HP:0000430 | Underdeveloped nasal alae |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
Disease ID | 1449 |
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Disease | atypical rett syndrome |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:46) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs122460157 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18581942 | G | T |
rs122460158 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18628374 | C | T |
rs122460159 | 17993579 | 6792 | CDKL5 | umls:C2748910 | BeFree | We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). | 0.121900093 | 2008 | CDKL5 | X | 18564496 | C | T |
rs122460159 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18564496 | C | T |
rs267608395 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604599 | C | T |
rs267608430 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18564524 | T | C |
rs267608433 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18575371 | GAAA | - |
rs267608436 | 17993579 | 6792 | CDKL5 | umls:C2748910 | BeFree | We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). | 0.121900093 | 2008 | CDKL5 | X | 18575402 | G | A |
rs267608453 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18579917 | C | T |
rs267608468 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18579945 | A | G |
rs267608479 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18581951 | G | A |
rs267608493 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18584331 | C | A,T |
rs267608505 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18588006 | G | T |
rs267608511 | 17993579 | 6792 | CDKL5 | umls:C2748910 | BeFree | We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). | 0.121900093 | 2008 | CDKL5 | X | 18588058 | T | C |
rs267608623 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604235 | - | C |
rs267608643 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604572 | C | T |
rs267608644 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604632 | G | T |
rs267608646 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604817 | - | TA |
rs267608650 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18609464 | G | A |
rs267608657 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18619971 | G | A |
rs587783072 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18575419 | A | G |
rs61748396 | NA | 4204 | MECP2 | umls:C2748910 | CLINVAR | NA | 0.123257302 | NA | MECP2 | X | 154031405 | G | T,C |
rs61749700 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18584324 | A | T |
rs61750250 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18598474 | TTGGACCCAG | - |
rs61753251 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18628509 | CT | - |
rs62641235 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18575423 | T | A,C |
rs62643608 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18575391 | T | - |
rs62643614 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18619933 | G | - |
rs62653623 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18575383 | C | T |
rs672601303 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18608911 | AG | NNNNNNNNNNNNNNNNNN |
rs786204963 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18588055 | A | C |
rs786204966 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604014 | G | T |
rs786204968 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604265 | C | - |
rs786204969 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604299 | C | T |
rs786204970 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604341 | - | A |
rs786204972 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604474 | T | - |
rs786204975 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18604778 | C | - |
rs786204976 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18608913 | G | A |
rs786204981 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18628578 | C | T |
rs786204983 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18579845 | TAGAATATGCT | - |
rs786204984 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18579969 | G | A |
rs786204986 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18584262 | G | A |
rs786204988 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18584310 | - | GT |
rs786204989 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18584327 | G | T |
rs786204990 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18588063 | - | TTTTA |
rs786204992 | NA | 6792 | CDKL5 | umls:C2748910 | CLINVAR | NA | 0.121900093 | NA | CDKL5 | X | 18598578 | A | - |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:9) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0100490 | Camptodactyly of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
HP:0000430 | Underdeveloped nasal alae | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
HP:0001163 | Abnormality of the metacarpal bones | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:24) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0000154 | Wide mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
HP:0000445 | Wide nose | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0009896 | Abnormality of the antitragus | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0001163 | Abnormality of the metacarpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
HP:0000430 | Underdeveloped nasal alae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
HP:0012471 | Thick vermilion border | MP:0014168 | abnormal brown adipose tissue mass | aberrant physical bulk or volume of brown adipose tissue |
HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
Disease ID | 1449 |
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Disease | atypical rett syndrome |
Case | (Waiting for update.) |