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Chvostek Sign
Wikipedia
It can also be found in subjects with respiratory alkalosis, for example as a result of hyperventilation syndrome, which can lead to a drastic reduction of the concentration in serum of calcium ions while at normal levels, for the binding of a significant proportion of ionized calcium (Ca 2+ ) with albumin and globulins. ... External links [ edit ] František Chvostek Nathan Weiss v t e Electrolyte imbalances Sodium High Salt poisoning Low Hypotonic Isotonic Cerebral salt-wasting syndrome Potassium High Low Chloride High Low Calcium High Low Symptoms and signs Chvostek sign Trousseau sign Milk-alkali syndrome Disorders of calcium metabolism Calcinosis ( Calciphylaxis , Calcinosis cutis ) Calcification ( Metastatic calcification , Dystrophic calcification ) Familial hypocalciuric hypercalcemia Phosphate High Low Magnesium High Low
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Mitochondrial Complex I Deficiency, Nuclear Type 10
Omim
Ogilvie et al. (2005) noted that the clinical presentation of the patient did not resemble that seen in Leigh syndrome (see 256000), nor did it resemble that of most other patients with mitochondrial disease. ... Barghuti et al. (2008) noted that the lesions were distinct from those observed in typical Leigh syndrome (see 256000). Hoefs et al. (2009) reported a girl, born of consanguineous parents, with fatal mitochondrial complex I deficiency. ... INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Optic atrophy (in some patients) - Nystagmus (in some patients) - External ophthalmoplegia (in some patients) RESPIRATORY - Apnea, episodic - Central hypoventilation - Respiratory failure ABDOMEN Gastrointestinal - Poor feeding - Dysphagia MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Encephalopathy, episodic - Global developmental delay - Seizures (in some patients) - Ataxia - Dysmetria - Signal abnormalities in the deep gray matter - Leukoencephalopathy - Variable signal abnormalities in the brainstem and spinal cord - White matter abnormalities consistent with Leigh syndrome (in some patients) - Neuropathologic examination shows necrosis and spongy degeneration - Wallerian degeneration of the spinal tracts LABORATORY ABNORMALITIES - Increased serum and CSF lactate - Decreased mitochondrial complex I deficiency in various tissues MISCELLANEOUS - Onset in infancy or childhood - Episodic decompensation may occur with concurrent infection - Progressive disorder - Early death may occur MOLECULAR BASIS - Caused by mutation in the NADH-ubiquinone oxidoreductase complex assembly factor 2 gene (NDUFAF2, 609653.0001 ) ▲ Close
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Kanzaki Disease
Omim
After experiencing bilateral tinnitus, hearing difficulty, and vertigo for many years, she was diagnosed with Meniere syndrome (see 156000) and wore a hearing aid. ... Kodama et al. (2001) suggested that Meniere syndrome may be another manifestation of Kanzaki disease. ... INHERITANCE - Autosomal recessive HEAD & NECK Face - Coarse facies Ears - Sensorineural hearing loss - Meniere syndrome Eyes - Conjunctiva shows dilated blood vessels - Fundi show dilated blood vessels with corkscrew-like tortuosity Nose - Enlarged nasal tip - Depressed nasal bridge Mouth - Thick lips SKIN, NAILS, & HAIR Skin - Angiokeratoma corporis diffusum - Hyperkeratosis - Dry skin - Maculopapular eruption, diffuse - Telangiectasia on lips and oral mucosa MUSCLE, SOFT TISSUES - Lymphedema NEUROLOGIC Central Nervous System - Intellectual impairment, mild - Vertigo - Atrophy of the cerebrum seen on MRI (in some patients) - White matter abnormalities in the posterior periventricular region Peripheral Nervous System - Peripheral axonal neuropathy - Distal limb muscle weakness - Distal sensory impairment of all modalities - Decreased density of myelinated fibers and axonal degeneration seen on sural nerve biopsy LABORATORY ABNORMALITIES - Decreased or absent alpha-N-acetylgalactosaminidase protein - Decreased or absent alpha-N-acetylgalactosaminidase activity - Diverse tissue cell types (vascular endothelial cells, adipocytes, Schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material - Glycoamino aciduria - Increased urinary O-linked sialopeptides MISCELLANEOUS - Adult onset - Allelic disorder to Schindler disease ( 609241 ) MOLECULAR BASIS - Caused by mutation in the alpha-N-acetylgalactosaminidase gene (NAGA, 104170.0002 ) ▲ Close
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Cervical Polyp
Wikipedia
CS1 maint: bot: original URL status unknown ( link ) External links [ edit ] Classification D ICD - 10 : N84.1 ICD - 9-CM : 219 DiseasesDB : 2314 External resources MedlinePlus : 001494 v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder
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Complement Component 5 Deficiency
Omim
Since that time, the designation 'Leiner's disease' has been used for a heterogeneous group of disorders covering a spectrum of erythroderma including atopic eczema, infantile seborrheic dermatitis, ichthyosiform erythroderma (242100), Netherton disease (256500), and immunodeficiency syndromes. Glover et al. (1988) urged that the term 'Leiner's disease' be avoided. ... Shield et al. (1992) stated that one of the children was later known to have Netherton syndrome and another Omenn syndrome (603554).
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Myeloperoxidase Deficiency
Wikipedia
External links [ edit ] Classification D ICD - 10 : E80.3 OMIM : 254600 MeSH : C562864 DiseasesDB : 8662 External resources eMedicine : ped/1530 v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency
- Progressive Encephalomyelitis With Rigidity And Myoclonus Orphanet
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Polymicrogyria With Optic Nerve Hypoplasia
Orphanet
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
- Mucolipidosis Type Iii Orphanet
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Complete Septate Uterus
Orphanet
Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os.
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Partial Septate Uterus
Orphanet
Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed).
- Coloboma Of Inferior Eyelid Orphanet
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Frontofacionasal Dysplasia
Orphanet
Clinical description The etiology remains unknown. Genetic counseling The syndrome is inherited in an autosomal recessive manner.
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Euryblepharon
Orphanet
It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.
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Camptobrachydactyly
Orphanet
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet.
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Familial Cervical Artery Dissection
Orphanet
Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms.
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Zika Virus Disease
Orphanet
Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.ERVK-32, RAF1, IVNS1ABP, PTPN11, ERVK-6, IFNA1, IFNA13, STAT2, IFNAR1, IFNAR2, AXL, IL1B, TNF, DDX58, PLAAT4, ROBO3, RSAD2, IFNL1, KRAS, TP53, IFNB1, HPR, IL6, ALB, IFNL2, NLRP3, STAT1, CD40LG, TAM, TLR3, CD14, CXCL10, STING1, SMPD3, HSPA4, G3BP1, IRF3, HMOX1, ITPA, PERCC1, ERVK-20, GAPDH, IFIH1, FGF2, ERVW-1, ISG15, ZBP1, CH25H, NTPCR, PARP1, WWTR1, PHGDH, KPNA6, CEP131, RASSF1, HAVCR1, TUBB3, RIPK3, IFITM3, HSP90B1, TXN, TYRO3, MOGS, RIPK1, GNE, SART3, B3GAT1, ALDH5A1, PPIP5K1, ARTN, NR1I2, FOXD3, PAF1, AGO2, APOBEC3C, EDC3, MAP1LC3B, TRIM56, MFSD2A, SLFN11, NEURL3, TWIST2, TRIM69, WIPF2, TICAM1, MIR34A, MIR34C, CD24, LINC01672, ERVK-18, ZC3H12A, PARP12, TRPV4, SMOX, C19orf53, F11R, CHCHD2, ISYNA1, PHAX, XRN1, DDIT4, MIB1, TFAP2A, ATG16L1, VAC14, PARD3, MAVS, NUFIP2, TFRC, ADAR, TAC3, EIF4G1, EIF5A, EPHB2, EZH2, F3, FCGR3A, FCGR3B, FMR1, GABPA, GDNF, CXCL2, PDIA3, HLA-E, HNRNPA2B1, HNRNPD, IFI16, IFIT1, IFNGR1, EIF4G2, SARDH, STAT5B, DHX9, AP2A1, AGRP, ATF4, ATM, BCL2, BMP6, CASP1, CASP3, CAT, CD48, CHML, COL11A2, CSF2, CUX1, DCX, DDX3X, DDX6, IFNR, IL1A, IDO1, INSR, PIK3CD, PIK3CG, MAPK1, UPF1, RPE, SAT1, SRL, CCL2, ADM, CCL8, CXCL11, SELP, SOAT1, SOD2, SOX2, STAT3, STAT5A, PIK3CB, PIK3CA, PDB1, MDM2, INSRR, IRF1, LAMP1, LAMC2, LCN2, LTBR, CAPRIN1, CXCL9, PCM1, MAP3K11, MS, MSI1, MSX1, NFE2L2, OAS3, PAX7, CCL5
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Wild Type Abeta2m Amyloidosis
Orphanet
Dialysis-related amyloidosis (DRA), is a type of amyloidosis (see this term) affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.
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Congenital Patella Dislocation
Orphanet
The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.
- Atrial Septal Aneurysm Orphanet