Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   atypical rett syndrome
  

Disease ID 1449
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)
C0037769  |  infantile spasms  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
4204  |  MECP2  |  CLINVAR;UNIPROT
6792  |  CDKL5  |  CLINVAR;UNIPROT
22854  |  NTNG1  |  UNIPROT
2290  |  FOXG1  |  UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:4)
FOXG1  |  14q12
NTNG1  |  1p13.3
MECP2  |  Xq28
CDKL5  |  Xp22.13
Disease ID 1449
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)
HP:0012469  |  Infantile spasms  |  1
HP:0001250  |  Seizures  |  1
Disease ID 1449
Disease atypical rett syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:46)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs122460157NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18581942GT
rs122460158NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18628374CT
rs122460159179935796792CDKL5umls:C2748910BeFreeWe 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).0.1219000932008CDKL5X18564496CT
rs122460159NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18564496CT
rs267608395NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604599CT
rs267608430NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18564524TC
rs267608433NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18575371GAAA-
rs267608436179935796792CDKL5umls:C2748910BeFreeWe 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).0.1219000932008CDKL5X18575402GA
rs267608453NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18579917CT
rs267608468NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18579945AG
rs267608479NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18581951GA
rs267608493NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18584331CA,T
rs267608505NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18588006GT
rs267608511179935796792CDKL5umls:C2748910BeFreeWe 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).0.1219000932008CDKL5X18588058TC
rs267608623NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604235-C
rs267608643NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604572CT
rs267608644NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604632GT
rs267608646NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604817-TA
rs267608650NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18609464GA
rs267608657NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18619971GA
rs587783072NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18575419AG
rs61748396NA4204MECP2umls:C2748910CLINVARNA0.123257302NAMECP2X154031405GT,C
rs61749700NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18584324AT
rs61750250NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18598474TTGGACCCAG-
rs61753251NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18628509CT-
rs62641235NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18575423TA,C
rs62643608NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18575391T-
rs62643614NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18619933G-
rs62653623NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18575383CT
rs672601303NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18608911AGNNNNNNNNNNNNNNNNNN
rs786204963NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18588055AC
rs786204966NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604014GT
rs786204968NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604265C-
rs786204969NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604299CT
rs786204970NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604341-A
rs786204972NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604474T-
rs786204975NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18604778C-
rs786204976NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18608913GA
rs786204981NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18628578CT
rs786204983NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18579845TAGAATATGCT-
rs786204984NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18579969GA
rs786204986NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18584262GA
rs786204988NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18584310-GT
rs786204989NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18584327GT
rs786204990NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18588063-TTTTA
rs786204992NA6792CDKL5umls:C2748910CLINVARNA0.121900093NACDKL5X18598578A-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:9)
HP ID HP Name MP ID MP Name Annotation
HP:0100490Camptodactyly of fingerMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0002213Fine hairMP:0010685abnormal hair follicle inner root sheath morphologyany 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:0004209Clinodactyly of the 5th fingerMP:0011665d-loop transposition of the great arteriescomplete 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:0002120Cerebral cortical atrophyMP:0012506brain atrophyacquired 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:0001231Abnormality of the fingernailsMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany 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:0100022Abnormality of movementMP:0005223abnormal dorsal-ventral polarity of the somitesanomalous 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:0007360Aplasia/Hypoplasia of the cerebellumMP:0012129failure of blastocyst formationinability to form a blastocyst from a solid ball of cells known as a morula
HP:0000430Underdeveloped nasal alaeMP:0004471short nasal bonereduced length of either of two rectangular bone plates forming the bridge of the nose
HP:0001163Abnormality of the metacarpal bonesMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany 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)
HP ID HP Name MP ID MP Name Annotation
HP:0000154Wide mouthMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002120Cerebral cortical atrophyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany 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:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased 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:0002119VentriculomegalyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002213Fine hairMP:0013897decreased eyelid cilium numberreduction in the number of the hairs that grow at the edge of the upper or lower eyelid
HP:0000445Wide noseMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0100022Abnormality of movementMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001257SpasticityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001231Abnormality of the fingernailsMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0009896Abnormality of the antitragusMP:0011098embryonic lethality during organogenesis, complete penetrancedeath 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:0007360Aplasia/Hypoplasia of the cerebellumMP:0020039increased bone ossificationincrease 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:0100490Camptodactyly of fingerMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000787NephrolithiasisMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002376Developmental regressionMP:0020214susceptible to malignant hyperthermiaincreased 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:0000365Hearing impairmentMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001163Abnormality of the metacarpal bonesMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002020Gastroesophageal refluxMP:0014178increased brain apoptosisincrease in the number of cells of the brain undergoing programmed cell death
HP:0000430Underdeveloped nasal alaeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000343Long philtrumMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0004209Clinodactyly of the 5th fingerMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0012471Thick vermilion borderMP:0014168abnormal brown adipose tissue massaberrant physical bulk or volume of brown adipose tissue
HP:0000252MicrocephalyMP:3000003abnormal Ebner's gland morphologyany 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
Disease atypical rett syndrome
Case(Waiting for update.)