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Severe Acute Respiratory Syndrome Wikipedia

The earliest case developed symptoms on 16 November 2002. [37] The index patient , a farmer from Shunde , Foshan , Guangdong, was treated in the First People's Hospital of Foshan.

ACE, CXCL6, CXCL1, ACE2, SARS1, VTN, CDSN, SARS2, MBL2, SH2D3A, CXCL10, HLA-A, TMPRSS2, IFNG, CLEC4M, IL6, MX1, IFNB1, HLA-DRB1, MBL3P, CCL2, TNF, OAS1, MYOM2, CCL5, HLA-B, NLRP3, IL10, BST2, IL2, IFNA13, IFNA1, RBM45, ERVK-6, SPECC1, GPT, CD209, EGFR, ERVK-32, MERTK, EBI3, POLDIP2, LINC01672, THPO, COPD, RNF19A, TPO, TRAF3, UBE2I, CBLL2, TRIM25, AIMP2, BCAR3, IL18R1, MUL1, IFIH1, ADAM17, GRAP2, NPIPB3, TMPRSS11D, RIPK3, BAG3, SDS, ISG15, FGL2, MASP2, CKLF, AHSA1, PRRT2, SOCS3, ABCA4, SULT1E1, CR1, FN1, FCER2, ESR1, CTSL, CTRL, MAPK14, CRK, ATF2, CREB1, MAP3K8, RTN2, CD14, CASP3, CASP1, CALR, BCL2L1, B2M, ANPEP, AHSG, AGT, GAPDH, GNL1, GOT1, GPER1, BRD2, RNASEL, RNASE2, RB1, PLAAT4, MAPK1, ACRV1, PRKCA, PPIA, PI4KB, PRKN, NM, NFIC, MIP, IRF3, IL12RB1, CXCL8, IFN1@, ICAM3, PRKCB
- Severe Acute Respiratory Syndrome (Sars) Mayo Clinic
  
  Overview Severe acute respiratory syndrome (SARS) is a contagious and sometimes fatal respiratory illness. severe acute respiratory syndrome (SARS) first appeared in China in November 2002. Within a few months, SARS spread worldwide, carried by unsuspecting travelers. SARS showed how quickly infection can spread in a highly mobile and interconnected world. On the other hand, a collaborative international effort allowed health experts to quickly contain the spread of the disease. There has been no known transmission of SARS anywhere in the world since 2004.
- Severe Acute Respiratory Syndrome Orphanet
  
  A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).
Sudden Infant Death Syndrome Wikipedia

—vary by racial and ethnic group and therefore risk exposure also varies by these groups. [2] Risk factors associated with prone sleeping patterns of African American families include mother's age, household poverty index, rural/urban status of residence, and infant's age.

SLC6A4, SCN5A, CAV3, KCNJ8, ACADM, MAOA, PHOX2B, AQP4, FEV, SCN1B, CHRNA7, CHRNB2, VHL, KCNQ1, ADCYAP1, IL10, IDS, KCNH2, IL6, LOC110806262, KLF6, IL1B, PSMG1, RYR2, DUSP2, ADCYAP1R1, SLC9A3, IL1A, IL1RN, GSTT1, C4B, TAC1, TNF, TGFB1, HSPD1, TH, SLC6A3, TSPYL1, VEGFA, CASP3, CHAT, VIPR1, CXCL8, GPD1L, MZB1, TPH2, MYD88, KCNK3, CYP2C9, CYP2C19, GSTM1, CYP2C18, HCRT, G6PC, FUT2, SLC5A5, C4A, CYP2D6, UCP1, DMBT1, EPHX2, TLR4, FGFR3, FMO3, SLC22A5, TACR1, FOS, SLC37A4, SULT1A1, SSTR2, SOD2, SNTA1, VIP, HSP90AA1, TRPV1, HSPA14, LOC107987479, MALAT1, PTF1A, OR2AG1, CYP2B6, PRRT2, AP1AR, TNFRSF17, HPGDS, SFTPD, B3GAT1, SETBP1, CYP2C8, CD160, SRA1, NOS1AP, ZBED1, BDNF, SI, SEA, HSPA4, APOE, FAS, CD14, KCND3, KCNA5, KCNA4, IREB2, HADHA, CHRNA4, IL4, HIF1A, HMOX1, IGHMBP2, IFNG, IFNA13, IFNA1, HSPA1B, HTR2A, HTR1A, HTC2, KCNJ10, ATF4, CASP9, PRF1, SCN4A, GFI1, SCN1A, GJA1, RPS27A, PRNP, PRKCB, PRKCA, POMC, CYP4F3, PIK3CA, P2RY1, CYP1A1, TRNL1, ND1, MIF, MBL2, GNB3, CPT1A
- Sudden Infant Death Syndrome GARD
  
  Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendations for risk reduction. Please click on the link to access this resource.
- Sudden Infant Death Syndrome OMIM
  
  A number sign (#) is used with this entry because mutations in the mitochondrial genes MTTL1 (590050) and MTND1 (516000) may play a role in some cases of SIDS. Evidence has also been presented for a relationship between SIDS and mutations in the SCN5A (600163), KCNQ1 (607542), and CAV3 (601253) genes, which cause various forms of long QT syndrome (see LQT1, 192500). There is also evidence for associations between SIDS and mutation in the SLC6A4 gene (182138) and the GPD1L gene (611778). Description Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS.
- Sudden Infant Death Syndrome (Sids) Mayo Clinic
  
  Overview Sudden infant death syndrome is the unexplained death of a baby. The baby is usually less than a year old and seems to be healthy. It often happens during sleep. Sudden infant death syndrome also is known as SIDS . It is sometimes called crib death because infants often die in their cribs. The cause of SIDS is unknown. But it may be caused by problems in the area of an infant's brain that controls breathing and waking up from sleep. Researchers have found some things that might put babies at higher risk.
Neuropathy, Hereditary Motor And Sensory, With Excessive Myelin Folding Complex, Autosomal Recessive OMIM

Clinical Features Ohnishi et al. (1989) described 2 unrelated Japanese patients, each with consanguineous parents, who had a motor and sensory neuropathy of the hypertrophic type with excessive myelin outfolding in myelinated fibers, as well as segmental demyelination and remyelination.
Ventriculomegaly With Defects Of The Radius And Kidney OMIM

Clinical Features Kovacs et al. (1997) described 2 consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe dilatation of the lateral cerebral ventricles.
Atelosteogenesis Type 2 MedlinePlus

This disorder is also characterized by an opening in the roof of the mouth (a cleft palate ), distinctive facial features, an inward- and upward-turning foot (clubfoot ), and unusually positioned thumbs (hitchhiker thumbs ).

SLC26A2
Papular Epidermal Nevi With Skyline Basal Cell Layers Syndrome GARD

Psychomotor delay may appear as clumsiness or difficulty playing sports. Deafness, unusual facial features, and genital birth defects, such as hypospadius or a curved penis, have been described in a few cases.
- Pens Syndrome Orphanet
  
  PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.
Methemoglobinemia, Alpha Type OMIM

If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993). Clinical Features Gerald and Efron (1961) reviewed 5 different M hemoglobins, all of which caused chronic cyanosis due to the occurrence of methemoglobinemia.
Methemoglobinemia, Beta Type OMIM

If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993). Clinical Features Gerald and Efron (1961) reviewed 5 different M hemoglobins, all of which caused chronic cyanosis due to the occurrence of methemoglobinemia.
- Hemoglobin M Disease Orphanet
  
  A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.
Erythrokeratodermia Variabilis Et Progressiva 5 OMIM

For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). Clinical Features Shah et al. (2017) reported a large Pakistani kindred in which 4 individuals, including a brother and sister, presented 'typical' progressive symmetric erythrokeratodermia within the first 2 years of life.
Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive To Steroids GARD

An important part of the ultimate diagnosis, and a classic feature of CLIPPERS, is that symptoms and MRI findings markedly improve with corticosteroid therapy.

CSF3, GFAP, ICAM1, CXCL8, CCL11, VCAM1
- Clippers Orphanet
  
  CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.
Torticollis OMIM

Facial asymmetry may be a manifestation (summary by Engin et al., 1997). Clinical Features Thompson et al. (1986) reported 5 girls with congenital muscular torticollis from 3 sibships of an inbred kindred.

DRD5, CACNA1A, PRRT2, TOR1A, ACTA1, APTX, SGCE, KMT2B, TUBB3, TUBB4A, KIF1C, EXOC6B, ATP13A2, CIZ1, PNKD, GDAP2, ARID1B, THAP1, CDK10, TRPV4, ANO3, COLEC11, KCTD17, NEK9, TBCK, EBF3, FLG-AS1, PRKRA, PCGF2, NAA10, GCH1, ATP1A3, COL6A1, COL6A2, COL6A3, COL12A1, CP, DRD2, ACTL6A, FLI1, FLG, GNAL, HPCA, KCNC3, MAPT, MECP2, MYF5, SCP2, TBP, ZNF142, TGM6, DYT7, DNM2, DBH, SRCIN1
- Torticollis Wikipedia
  
  "Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia" . ... Retrieved 2017-11-02 . ^ Papapetropoulos, S; Tuchman, A; Sengun, C; Russell, A; Mitsi, G; Singer, C (2008). "Anterocollis: Clinical features and treatment options". Medical Science Monitor . 14 (9): CR427–30. ... "Correlation of clinical and ultrasonographic features in congenital muscular torticollis".
Palmoplantar Keratoderma, Punctate Type Ii OMIM

The designation PPPP was proposed by Chernosky (1986). Clinical Features This condition was first described by Brown (1971) as punctate keratoderma.

CXCL2, IL17A, ADAM23, IL23A
- Punctate Porokeratosis GARD
  
  Punctate porokeratosis is a skin condition that appears in adulthood as many, tiny, ridgelike bumps on the palms of the hands and soles of the feet. These bumps may slowly spread over the skin and usually do not cause symptoms, though they sometimes cause itching or discomfort while walking. Individuals with this condition often develop other types of porokeratosis as well. The cause of punctate porokeratosis is unknown, though genetic factors, a weakened immune system (immunodeficiency), or previous injury to the skin (for example, a burn) have been suggested as possible risk factors. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.
- Punctate Palmoplantar Keratoderma Type 2 Orphanet
  
  Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.
Deafness, Congenital, With Total Albinism OMIM

Clinical Features Ziprkowski and Adam (1964) described a Sephardic Jewish family from Morocco in which 2 children in each of 2 families with consanguineous parents had congenital deafness with total albinism.
Deafness, Autosomal Dominant 37 OMIM

Description DFNA37 is an autosomal dominant form of early-onset postlingual progressive hearing impairment (Booth et al., 2019). Clinical Features Booth et al. (2019) reported a large 4-generation family of European descent with postlingual, slowly progressive sensorineural hearing loss.
Spermatogenic Failure 36 OMIM

For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). Clinical Features Guran et al. (2019) studied 3 unrelated Turkish men with infertility or reduced fertility.
Spastic Paraplegia 32, Autosomal Recessive OMIM

Clinical Features Stevanin et al. (2007) reported a consanguineous Portuguese family in which 3 sibs had slowly progressive complicated spastic paraplegia.

SPG32, ATL1
- Autosomal Recessive Spastic Paraplegia Type 32 Orphanet
  
  Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.
Thyroglossal Duct Cyst, Familial OMIM

Nearly all cases present sporadically in young children as slowly enlarging midline neck mass (summary by Greinwald et al., 1996). Clinical Features Millikan et al. (1980) reported the condition in a mother, 2 daughters, 1 granddaughter, and 2 great-granddaughters.
- Familial Thyroglossal Duct Cyst GARD
  
  Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population. They usually present in children, around 6 years of age, but rarely, they may present in adulthood. They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness.
- Familial Thyroglossal Duct Cyst Orphanet
  
  A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.
Cone-Rod Dystrophy 12 OMIM

For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Eidinger et al. (2015) reported 3 sibs, born to consanguineous Jewish parents of Kurdish Iraqi descent, with autosomal recessive cone-rod dystrophy.

PROM1
Immunodeficiency With Defective Leukocyte And Lymphocyte Function And With Response To Histamine-1 Antagonist OMIM

Clinical Features Jung et al. (1983) identified a familial immunodeficiency disease characterized by recurrent and persistent pyoderma, folliculitis, and atopic dermatitis.
Hypospadias 3, Autosomal OMIM

For a phenotypic description and a discussion of genetic heterogeneity of hypospadias, see 300633. Clinical Features Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis.
- Posterior Hypospadias Orphanet
  
  A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis. Epidemiology Posterior hypospadias occurs in about 5% to 9% of hypospadias, for which the mean birth prevalence is estimated to be 1/500 in Europe. Clinical description The consequences of hypospadias, apart from the appearance, include spraying of the urinary stream, inability to urinate in standing position, and later in life curvature, unless corrected, leads to difficulties during intercourse. Fertility problems and decreased satisfaction with genital appearance are more common.