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Oligomenorrhea
Wikipedia
It may be caused by thyrotoxicosis , hormonal changes in perimenopause , Prader–Willi syndrome , and Graves disease . Endurance exercises such as running or swimming can affect the reproductive physiology of women athletes. ... A more recent study shows that athletes competing in sports that emphasise thinness or a specific weight exhibit a higher rate of menstrual dysfunction than either athletes competing in sports with less focus on these or control subjects. [7] Breastfeeding has been linked to irregularity of menstrual cycles due to hormones that delay ovulation. Women with polycystic ovary syndrome (PCOS) are also likely to have oligomenorrhea. ... External links [ edit ] Classification D ICD - 10 : N91.5 ICD - 9-CM : 626.1 MeSH : D009839 DiseasesDB : 14843 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 v t e Menstrual cycle Events and phases Menstruation Follicular phase Ovulation Luteal phase Life stages Menarche Menopause Tracking Signs Basal body temperature Cervical mucus Mittelschmerz Systems Fertility awareness Calendar-based methods Billings Ovulation Method Creighton Model Suppression Extended cycle combined hormonal contraceptive Lactational amenorrhea Disorders Amenorrhea Anovulation Dysmenorrhea Hypomenorrhea Irregular menstruation Menometrorrhagia Menorrhagia Metrorrhagia Oligomenorrhea Related events Folliculogenesis Menstrual synchrony Premenstrual syndrome / Premenstrual dysphoric disorder / Menstrual psychosis Sexual activity In culture and religion Chhaupadi Feminine hygiene Sanitary napkin Tampon Menstrual cup Menstrual Hygiene Day Menstrual taboo Menstruation hut Niddah
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Respiratory Distress Syndrome In Premature Infants
Omim
Description The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. ... Pathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB (178640) and SFTPC (178620), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, 265120). ... Lahti et al. (2004) analyzed the frequencies of polymorphisms in the SFTPC gene (178620) in 245 preterm (less than 34 weeks' gestation) Finnish newborns and 158 healthy term infants, and studied their association with respiratory distress syndrome. They found an association between the asn138 and asn186 alleles and premature male infants with RDS (p = 0.018 and 0.045, respectively).ABCA3, SFTPB, SFTPC, SFTPA2, SFTPA1, SFTPD, ACE, IL10, MIR34A, ABCA4, PCYT1B, SLC22A4, TAPBP, TNF, TST, AIMP2, GRAP2, ITM2B, RNF19A, AHSA1, CNMD, HPGDS, TREM1, CENPJ, CHPT1, LPCAT1, RAMAC, CCDC26, HCA1, NPSR1, POLDIP2, PRPH2, RAB27A, PROS2P, ADCY9, ARSD, CRK, MAPK14, CST3, CCN2, CYP3A7, CYP3A5, EDN1, F3, FN1, FUSE, NR3C1, HMGB1, HMOX1, FOXA2, TNC, IL4, IL6, IL18, MBL2, NOS3, MAPK1, LINC01672
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Chondrodysplasia Punctata 1, X-Linked Recessive
Omim
Wulfsberg et al. (1992) described X-linked recessive chondrodysplasia punctata as part of a contiguous Xp gene deletion syndrome including the CDPX1 gene, a nonspecific X-linked mental retardation gene, the STS gene, and the Kallmann syndrome gene. ... The fact that the patients had neither ichthyosis nor Kallmann syndrome indicates that these loci are located more proximally. ... Her son did not show Madelung deformity, demonstrating that the Leri-Weill syndrome phenotype may be incomplete in children with SHOX gene deletion. ... The deletions on the X and Y chromosomes allowed Weil et al. (1993) to map the genes responsible for most features of the Turner syndrome to the segment between DXS432 and Xqter. ... INHERITANCE - X-linked recessive GROWTH Height - Short stature HEAD & NECK Head - Microcephaly Ears - Hearing loss Eyes - Cataracts Nose - Nasal hypoplasia - Depressed nasal bridge - Short nasal septum GENITOURINARY External Genitalia (Male) - Hypogonadism (in contiguous gene syndrome patients) SKELETAL Spine - Paravertebral stippling Limbs - Epiphyseal stippling Hands - Distal phalangeal hypoplasia SKIN, NAILS, & HAIR Skin - Ichthyosis (in contiguous gene syndrome patients) NEUROLOGIC Central Nervous System - Developmental delay - Anosmia (in contiguous gene syndrome patients) MISCELLANEOUS - Some patients have a contiguous gene syndrome due to loss of adjacent genes (STS, 308100 and KAL1, 300836 ) on Xp22.3 via deletions and translocations MOLECULAR BASIS - Caused by mutation in the arylsulfatase E gene (ARSE, 300180.0001 ) ▲ Close
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Coronary Thrombosis
Wikipedia
"MRI findings in patients with acute coronary syndrome and unobstructed coronary arteries" . ... "Anti-Thrombotic Effects of Statins in Acute Coronary Syndromes: At the Intersection of Thrombosis, Inflammation, and Platelet-Leukocyte Interactions" . ... External links [ edit ] Classification D ICD - 10 : I24.0 ICD - 9-CM : 414.8 MeSH : D003328 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Carcinoid
Wikipedia
A slow-growing type of neuroendocrine tumor that sometimes causes paraneoplastic syndromes Not to be confused with Chancroid . ... Potential causes of flushing in carcinoid syndrome include bradykinins, prostaglandins, tachykinins, substance P, and/or histamine, diarrhea, and heart problems. ... This constellation of symptoms is called carcinoid syndrome or (if acute) carcinoid crisis . ... They do not produce sufficient hormonal substances to cause the carcinoid or other endocrine syndromes. In fact, they more closely resemble exocrine than endocrine tumors. ... Neuroendocrine cancers are abnormal growths of neuroendocrine cells which can spread to other parts of the body. See also [ edit ] Carcinoid syndrome Don Meyer , head coach emeritus of the Northern State University men's basketball team.MIR409, MIR155, MIR222, MIR369, MIR154, MIR193A, MIR127, MIR224, MIR30A, MIR34B, MIR34C, MIR302D, MIR136, MIR370, MIR10A, MIR146A, MIR410, MIR432, MIR487B, MIR494, MIR938, MIR511, MEN1, CDKN1B, CDKN1A, BRCA2, CHGA, SST, CDKN2C, CDKN2B, POMC, TP53, KIF16B, GAST, SCLC1, SYP, ASCL1, MTA1, CTNNB1, EGFR, SLC6A2, BCL2, OTP, TGFB1, ELK3, TTF1, RAF1, EPHB1, CD44, PIK3CA, IGF1, INSM1, RASSF1, PAX5, MGMT, NKX2-1, CD274, DLL3, PYY, SSTR2, RET, PIK3CG, PIK3CD, PIK3CB, KRT19, KIT, SMUG1, VEGFA, PDGFRA, SDHD, SIM2, NOTCH1, NME1, MYC, APC, TTR, SCTR, AKT1, TERT, CDKN2A, CCN2, MAP2K1, MTOR, MAPK3, GRP, CCKBR, SSTR1, HDC, DAD1, SOX2, TAC1, SSTR5, HMGA2, KMT2D, FZD7, SPHK1, VIM, CXCR4, WT1, TGFA, STC1, TGFB2, TGFB3, TIMP3, UVRAG, UCHL1, TP63, ACTB, GPRC5A, TMED7, RTN4, INTS2, MARCKSL1, WLS, TMPRSS13, LMLN, CDHR1, SPECC1, PIK3IP1, OR51E1, IPMK, NUTM1, TICAM2, MIR100, MIR21, MIR431, MIR497, MIR885, TMED7-TICAM2, LOC105373985, H3P23, BCOR, HPGDS, CLDN2, MYCBP, CLDN1, ATG12, ZFYVE9, NAPSA, CARTPT, KEAP1, BCL2L11, PRMT5, CIB1, ZNRD2, IGF2BP3, DCTN6, POLQ, MAGED2, CKAP4, NLRP1, TBC1D9, SMS, CRTC1, RAB38, PRKD2, SATB2, POU4F1, SLC18A1, FGF3, CPE, CLDN4, CLDN3, DDC, DES, DIO3, EGF, EPHB2, ERBB2, ERBB4, ETS1, FHIT, HES1, FOS, FOSB, GABPA, GCG, GHRH, GIP, GLI1, GNAS, GSK3B, GSTP1, HIF1A, CLU, CHRNA7, CFTR, CDX2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APLP1, APP, AQP4, STS, ATP1A2, ATP4A, BAAT, CEACAM1, BRAF, CA2, CALCA, CASP8, CCNA2, CCNE1, CDH1, CDH13, CDK6, CDKN2D, HOXC6, HSP90AA1, SLC3A2, PRKD1, PAK3, PCNA, PDGFA, PDGFRB, ABCB1, PIP, PITX1, PLAU, PLCB3, PLG, POU3F2, PSMD9, HTR2B, PTEN, PTH, PTHLH, PTPRN, RAD51C, RARB, RNASE3, RPE65, RTN1, SCT, SLC2A1, SERPINE1, NTS, NMB, NGF, IFI27, IL12A, ISL1, JUN, JUNB, JUND, LUM, SMAD4, MAP2, MCAM, CD99, MKI67, MLH1, MMP2, CD200, ABCC1, MSH2, MSMB, MST1, NEUROD1, NF1, NFE2L2, NFKB1, H3P10
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Renal Osteodystrophy
Wikipedia
"Is chronic kidney disease-mineral bone disorder (CKD-MBD) really a syndrome?" (PDF) . Nephrology, Dialysis, Transplantation . 29 (10): 1815–20. doi : 10.1093/ndt/gft514 . ... External links [ edit ] Classification D ICD - 10 : N25.0 ICD - 9-CM : 588.0 MeSH : D012080 External resources eMedicine : radio/500 Renal Osteodystrophy - NKUDIC, NIH v t e Bone and joint disease Bone Inflammation endocrine : Osteitis fibrosa cystica Brown tumor infection : Osteomyelitis Sequestrum Involucrum Sesamoiditis Brodie abscess Periostitis Vertebral osteomyelitis Metabolic Bone density Osteoporosis Juvenile Osteopenia Osteomalacia Paget's disease of bone Hypophosphatasia Bone resorption Osteolysis Hajdu–Cheney syndrome Ainhum Gorham's disease Other Ischaemia Avascular necrosis Osteonecrosis of the jaw Complex regional pain syndrome Hypertrophic pulmonary osteoarthropathy Nonossifying fibroma Pseudarthrosis Stress fracture Fibrous dysplasia Monostotic Polyostotic Skeletal fluorosis bone cyst Aneurysmal bone cyst Hyperostosis Infantile cortical hyperostosis Osteosclerosis Melorheostosis Pycnodysostosis Joint Chondritis Relapsing polychondritis Other Tietze's syndrome Combined Osteochondritis Osteochondritis dissecans Child leg: hip Legg–Calvé–Perthes syndrome tibia Osgood–Schlatter disease Blount's disease foot Köhler disease Sever's disease spine Scheuermann's_disease arm: wrist Kienböck's disease elbow Panner disease v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
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Conjunctival Squamous Cell Carcinoma
Wikipedia
External links [ edit ] Classification D ICD - 9-CM : 190.3 ICD-O : M/ v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma v t e Glandular and epithelial cancer Epithelium Papilloma / carcinoma Small-cell carcinoma Combined small-cell carcinoma Verrucous carcinoma Squamous cell carcinoma Basal-cell carcinoma Transitional cell carcinoma Inverted papilloma Complex epithelial Warthin's tumor Thymoma Bartholin gland carcinoma Glands Adenomas / adenocarcinomas Gastrointestinal tract: Linitis plastica Familial adenomatous polyposis pancreas Insulinoma Glucagonoma Gastrinoma VIPoma Somatostatinoma Cholangiocarcinoma Klatskin tumor Hepatocellular adenoma / Hepatocellular carcinoma Urogenital Renal cell carcinoma Endometrioid tumor Renal oncocytoma Endocrine Prolactinoma Multiple endocrine neoplasia Adrenocortical adenoma / Adrenocortical carcinoma Hürthle cell Other/multiple Neuroendocrine tumor Carcinoid Adenoid cystic carcinoma Oncocytoma Clear-cell adenocarcinoma Apudoma Cylindroma Papillary hidradenoma Adnexal and skin appendage sweat gland Hidrocystoma Syringoma Syringocystadenoma papilliferum Cystic, mucinous, and serous Cystic general Cystadenoma / Cystadenocarcinoma Mucinous Signet ring cell carcinoma Krukenberg tumor Mucinous cystadenoma / Mucinous cystadenocarcinoma Pseudomyxoma peritonei Mucoepidermoid carcinoma Serous Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma Ductal, lobular, and medullary Ductal carcinoma Mammary ductal carcinoma Pancreatic ductal carcinoma Comedocarcinoma Paget's disease of the breast / Extramammary Paget's disease Lobular carcinoma Lobular carcinoma in situ Invasive lobular carcinoma Medullary carcinoma Medullary carcinoma of the breast Medullary thyroid cancer Acinar cell Acinic cell carcinoma v t e Skin cancer of the epidermis Tumor Carcinoma BCC Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal cell carcinoma syndrome SCC Forms Adenoid Basaloid Clear cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis Adenocarcinoma Aggressive digital papillary adenocarcinoma Extramammary Paget's disease Ungrouped Merkel cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor Benign tumors Acanthoma Forms Large cell Fissuring Clear cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma Keratoacanthoma Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary Wart Verruca vulgaris Verruca plana Plantar wart Periungual wart Other Epidermal nevus Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica Other nevus Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus Ungrouped Cutaneous horn v t e Cancer involving the respiratory tract Upper RT Nasal cavity Esthesioneuroblastoma Nasopharynx Nasopharyngeal carcinoma Nasopharyngeal angiofibroma Larynx Laryngeal cancer Laryngeal papillomatosis Lower RT Trachea Tracheal tumor Lung Non-small-cell lung carcinoma Squamous-cell carcinoma Adenocarcinoma ( Mucinous cystadenocarcinoma ) Large-cell lung carcinoma Rhabdoid carcinoma Sarcomatoid carcinoma Carcinoid Salivary gland–like carcinoma Adenosquamous carcinoma Papillary adenocarcinoma Giant-cell carcinoma Small-cell carcinoma Combined small-cell carcinoma Non- carcinoma Sarcoma Lymphoma Immature teratoma Melanoma By location Pancoast tumor Solitary pulmonary nodule Central lung Peripheral lung Bronchial leiomyoma Pleura Mesothelioma Malignant solitary fibrous tumor v t e Tumors of the female urogenital system Adnexa Ovaries Glandular and epithelial / surface epithelial- stromal tumor CMS: Ovarian serous cystadenoma Mucinous cystadenoma Cystadenocarcinoma Papillary serous cystadenocarcinoma Krukenberg tumor Endometrioid tumor Clear-cell ovarian carcinoma Brenner tumour Sex cord–gonadal stromal Leydig cell tumour Sertoli cell tumour Sertoli–Leydig cell tumour Thecoma Granulosa cell tumour Luteoma Sex cord tumour with annular tubules Germ cell Dysgerminoma Nongerminomatous Embryonal carcinoma Endodermal sinus tumor Gonadoblastoma Teratoma / Struma ovarii Choriocarcinoma Fibroma Meigs' syndrome Fallopian tube Adenomatoid tumor Uterus Myometrium Uterine fibroids/leiomyoma Leiomyosarcoma Adenomyoma Endometrium Endometrioid tumor Uterine papillary serous carcinoma Endometrial intraepithelial neoplasia Uterine clear-cell carcinoma Cervix Cervical intraepithelial neoplasia Clear-cell carcinoma SCC Glassy cell carcinoma Villoglandular adenocarcinoma Placenta Choriocarcinoma Gestational trophoblastic disease General Uterine sarcoma Mixed Müllerian tumor Vagina Squamous-cell carcinoma of the vagina Botryoid rhabdomyosarcoma Clear-cell adenocarcinoma of the vagina Vaginal intraepithelial neoplasia Vaginal cysts Vulva SCC Melanoma Papillary hidradenoma Extramammary Paget's disease Vulvar intraepithelial neoplasia Bartholin gland carcinoma
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Juvenile Myelomonocytic Leukemia
Omim
JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). ... In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. ... Molecular Genetics Mutations Associated with Noonan Syndrome and JMML Tartaglia et al. (2003) showed that germline mutations in PTPN11 lead to Noonan syndrome-1 (NS1; 163950) associated with JMML (T73I; 176876.0011), and that somatic mutations in PTPN11 are associated with isolated JMML. Jongmans et al. (2005) described a patient with Noonan syndrome and mild JMML who carried a mutation in the PTPN11 gene (176876.0011). Schubbert et al. (2006) described a 3-month-old female with Noonan syndrome-3 (NS3; 609942) and a severe clinical phenotype who presented with a JMML-like myeloproliferative disorder.KRAS, NF1, PTPN11, CBL, NRAS, ARHGAP26, ASXL1, SETBP1, RRAS, CSF2, RUNX1, DNMT3A, GATA2, JAK3, RAC2, EZH2, RRAS2, ZRSR2, SH2B3, FLT3, TET2, JAK2, BCR, ETV6, SRSF2, KMT2A, ABL1, CD34, PDGFRB, MVD, MAP2K7, PIK3CA, RAF1, PIK3CD, IGFBP7, RARS1, PIK3CG, KIT, PIK3CB, TP53, THPO, HIP1, NUP98, MYC, TNF, STAT5B, HBG2, HBG1, FANCB, EBI3, FIP1L1, PDGFRA, CSF2RA, CCR7, IL18R1, CDKN2A, CD38, CD6, MOGS, BRAF, U2AF1, THY1, SOS1, MECOM, IL3RA, SF3B1, STAT5A, FUT1, HRAS, IL1B, KDM6A, KDM1A, ELL, CXCR4, PPP1R13B, MIR15A, WAS, SGSM3, TRIM33, SMC1A, MIR223, MIR34B, U2AF1L5, THBD, H3P9, TEK, H3P13, TRBV20OR9-2, OSBP2, MIR150, ZHX2, BCL11A, PCBP4, TNK2, RASA4, IL23A, PPP1R12C, ETNK1, MRPL28, PAG1, GAB2, AKAP12, CBFA2T2, LIN28B, MUL1, KLF1, SUB1, ARHGEF7, NRP2, KAT7, NXT1, SPECC1, CBLL2, RABEP1, PIK3R1, STAT3, SRC, IL2RG, IL1RN, IL1R1, HTC2, HOXA11, HOXA9, FUT4, FRA16B, FGFR1, F9, EVPL, EPO, EPHB2, EIF4E, ATN1, DNMT3B, DNMT1, CYBB, CREBBP, CREB1, COL11A2, CDKN2D, CDKN2B, CALR, ARG1, AR, ANXA2, ALK, AKT1, IL3, IL4, IL10RA, MAPK1, SOAT1, SCT, ROS1, RNASE3, RIT1, RET, REG1A, REL, OPN1LW, RAP1GAP, RAG2, PTPN6, PTEN, PIK3R2, INPP5D, PARP1, PDE4A, PRKN, PEBP1, NPM1, NELL2, NACA, MYH10, MYH9, KITLG, MEFV, IRF2, IRF1, H3P10
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Ventriculomegaly-Cystic Kidney Disease
Orphanet
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.
- Isolated Congenital Anosmia Orphanet
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Dilated Cardiomyopathy
Wikipedia
In these cases, if the extrasystole are reduced or removed (for example, via ablation therapy) the cardiomyopathy usually regresses. [18] [19] Genetics [ edit ] Genetic associations with dilated cardiomyopathy Type OMIM Gene Locus CMD1A 115200 LMNA 1q21 CMD1B 600884 unknown ( TMOD1 candidate) 9q13 CMD1C 601493 LDB3 10q22-q23 CMD1D 601494 TNNT2 1q32 CMD1E 601154 SCN5A 3p CMD1F 602067 6q23 CMD1G 604145 TTN 2q31 CMD1H 604288 2q14-q22 CMD1I 604765 DES CMD1K 605582 6q12-q16 CMD1L 606685 SGCD 5q33 CMD1M 607482 CSRP3 11p15.1 CMD1N 607487 TCAP 17q12 CMD1O 608569 ABCC9 12p12.1 CMD1P 609909 PLN 6q22.1 CMD1Q 609915 7q22.3-q31.1 CMD1R ACTC 15q14 CMD1S MYH7 14q12 CMD1T TMPO 12q22 CMD1U PSEN1 14q24.3 CMD1V PSEN2 1q31-q42 CMD1W 611407 VCL 10q22-q23 CMD1X FCMD 9q31 CMD1Y 611878 TPM1 15q22.1 CMD1Z 611879 TNNC1 3p21.3-p14.3 CMD1AA 612158 ACTN2 1q42-q43 CMD2A 611880 TNNI3 19q13.4 CMD3A 300069 TAZ Xq28 CMD3B 302045 DMD Xp21.2 ALPK3 15q25.3 About 25–35% of affected individuals have familial forms of the disease, [13] with most mutations affecting genes encoding cytoskeletal proteins, [13] while some affect other proteins involved in contraction. [20] The disease is genetically heterogeneous, but the most common form of its transmission is an autosomal dominant pattern. [13] Autosomal recessive (as found, for example, in Alström syndrome [13] ), X-linked (as in Duchenne muscular dystrophy ), and mitochondrial inheritance of the disease is also found. [21] Some relatives of those affected by dilated cardiomyopathy have preclinical, asymptomatic heart-muscle changes. [22] Other cytoskeletal proteins involved in DCM include α-cardiac actin , desmin , and the nuclear lamins A and C. [13] Mitochondrial deletions and mutations presumably cause DCM by altering myocardial ATP generation . [13] Kayvanpour et al. performed 2016 a meta-analysis with the largest dataset available on genotype-phenotype associations in DCM and mutations in lamin (LMNA), phospholamban (PLN), RNA Binding Motif Protein 20 (RBM20), Cardiac Myosin Binding Protein C (MYBPC3), Myosin Heavy Chain 7 (MYH7), Cardiac Troponin T 2 (TNNT2), and Cardiac Troponin I (TNNI3). ... Classification D ICD - 10 : I42.0 ICD - 9-CM : 425.4 OMIM : 212110 MeSH : D002311 DiseasesDB : 3066 SNOMED CT : 74368002 External resources MedlinePlus : 000168 eMedicine : med/289 emerg/80 ped/2502 GeneReviews : Dilated Cardiomyopathy Overview Orphanet : 217604 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins v t e Genetic disorder , membrane: ABC-transporter disorders ABCA ABCA1 ( Tangier disease ) ABCA3 ( Surfactant metabolism dysfunction 3 ) ABCA4 ( Stargardt disease 1 , Retinitis pigmentosa 19 ) ABCA12 ( Harlequin-type ichthyosis , Lamellar ichthyosis 2 ) ABCB ABCB4 ( Progressive familial intrahepatic cholestasis 3 ) ABCB7 ( ASAT ) ABCB11 ( Progressive familial intrahepatic cholestasis 2 ) ABCC ABCC2 ( Dubin–Johnson syndrome ) ABCC6 ( Pseudoxanthoma elasticum ) ABCC7 ( Cystic fibrosis ) ABCC8 ( HHF1 , TNDM2 ) ABCC9 ( Dilated cardiomyopathy 1O ) ABCD ABCD1 ( Adrenoleukodystrophy , Adrenomyeloneuropathy ) ABCG ABCG5 ( Sitosterolemia ) ABCG8 ( Gallbladder disease 4, Sitosterolemia ) see also ABC transportersTTN, SCN5A, DMD, ACTC1, TNNT2, MYH6, TMPO, ADRB1, NPPA, ADRB2, SOD2, FAS, LMNA, EGFR, MYH7, TNNI3, PSEN1, ABCC9, RAF1, SGCD, BAG3, ACTA1, SDHA, ALMS1, PSEN2, DES, CSRP3, LDB3, CAP2, GPX1, CTNNB1, NKX2-5, ITGB1, WDR12, SLC22A5, CD36, CAVIN4, NR3C2, PKP2, NPPB, UCP1, TNF, AXIN2, TCF7L2, SHBG, SGCB, RAC1, CSF3, RENBP, FASN, FASLG, SIK1, CSRNP1, ATM, ABRA, AGT, TP53, PDLIM5, LRRC10, AGTR1, SRF, TBX20, BCL2, DAG1, MRGPRD, PTGER4, DNM1L, ILK, MED1, ESRRB, ERBB2, PPARGC1A, MYOCD, GNAQ, CTSV, BAX, TUBB, PPP3CA, NR2F2, PROX1, MAS1, TIMP3, TMOD1, CXCR3, RXRA, RPS6KB1, CXCL1, PTPN11, TPM1, RAB1A, COX7A1, BCL2L1, AGTR2, YME1L1, MDM4, PDCD1, CASP8, CASP9, CASP3, IL10, CENPF, PHC1, PLN, SNAI1, LMOD2, DICER1, TAZ, TNNC1, VCL, RBM20, MYBPC3, DNAJC19, MYPN, DSP, ANKRD1, TNNI3K, EYA4, FKTN, FKRP, MMP1, CRYAB, TXNRD2, ACTN2, SYNE1, DSG2, SLC25A4, LAMP2, PRDM16, HSPB7, DPM3, SPEG, DOLK, TMEM43, PPCS, POLG, XK, NEBL, NEXN, TAF1A, TCAP, HADHA, HCG22, PGM1, TRNV, SDHD, SDHAF1, MYL2, TRNW, NDUFB8, CEP85L, RYR1, TTN-AS1, MYZAP, NDUFS2, BOLA3, DSG2-AS1, HAMP, SKI, SLC12A2, PPP1R13L, POLG2, SYNE2, KAT6B, NDUFAF3, ACAD8, ACAD9, ANKRD11, NCAPH2, POMT2, RRM2B, MAP3K20, NDUFB11, LIMS2, TWNK, SELENON, EPG5, TRNK, RBCK1, HAND2-AS1, ZBTB17, HJV, GCOM1, SURF1, TERT, ADSS1, TPM2, TPM3, GATAD1, TSFM, MGME1, DHX16, KCNAB2, HACD1, HAND2, SCO2, SLC2A10, TRNL1, ACADVL, COX7B, ITGA7, HADHB, HADH, COL7A1, HCCS, CHKB, HMGCL, RUNX1, JUP, GLB1, KCNE1, ATP5F1D, RERE, MIPEP, LAMA3, LAMA4, LAMB3, CPT2, LAMC2, ADD2, ND1, ACTB, ND6, ATP6, GABRD, ND5, ND4, ADCY5, ND3, ND2, FHL2, ACE, CXADR, MARCKSL1, EMD, MUC2, FLNC, LGALS3, ZASP, IGF1, HAND1, VEGFA, HLA-DQB1, CASZ1, EDN1, PIK3CA, PIK3CB, SPP1, PIK3CD, MIR208B, FXN, SLC2A4, CA8, NAMPT, OBSCN, GATA4, HSPB6, NFKB1, MINDY3, GFAP, TBX5, TLR4, TEAD1, TGFB1, TGM2, C20orf181, ADIPOQ, EDNRB, PIK3CG, MEF2A, EDNRA, GRK2, RYR2, MMP9, LPL, HLA-DRB1, PPARA, COMP, RNF111, MIR499A, MIR22, TAX1BP3, KLHL24, MIR214, CRMP1, CNN1, MIR25, MIR340, IL22, MIR33A, IL17D, ADORA1, TLR7, TNFRSF12A, CXADRP1, MYOZ2, TRPV2, UFM1, AKT1, DLL1, CCN2, ITGB1BP2, SYNM, E2F6, UFL1, ATN1, DNTT, DAPK2, MICA, PRPF6, ADCYAP1, TOR1AIP1, HAVCR1, CTLA4, CYP2E1, GATA6-AS1, CTSL, PDLIM3, SGSM3, MIR92B, CCR4, CTSB, RGCC, CTNNA3, CHD7, RTN4, MIR21, RBM45, PPP1R2C, DDR1, TLN2, HOPX, ATP5MD, BRCA1, BMI1, BDH1, FBXO32, AXL, LRG1, ATP6V1G2, MTPN, CHRM2, ZKSCAN4, GRK3, ARR3, RND3, AR, AHSG, CBLL2, DNAJB1P1, SLC25A5, ANO5, RBM24, IL27, OPA3, CAD, ARC, CALR, MIR185, ERBIN, MYDGF, BTNL2, MIR18A, MIR148A, CDKN1B, ALDH2, JPH2, CDH2, ALPK3, MYH7B, CD40LG, CD40, SCARB2, NIF3L1, ELAC2, CD34, IFIH1, MIR146A, SLC25A5P8, ADRA2C, CASR, CAMP, MUL1, MYH14, TRNI, PLEKHM2, NCOA6, LTBP2, LPP, LMO7, LHCGR, LDHA, REN, REST, S100A1, SCN1A, LAMA2, CCL2, CXCL12, KDR, KCNN3, SGCA, JARID2, ITPA, SLC6A2, SLC8A1, ISL1, ISG20, IL18, SPG7, IL17A, STAT3, IL7R, TAC1, ADAM17, IL6, MC4R, PRKCE, PRKCA, NRAP, TRNP, MYBPC1, MYBPC2, MTM1, MYLK, NCAM1, NDUFAB1, COX1, NOS1, NOS2, NOS3, NOTCH4, MMP14, TNFRSF11B, PRKAR1A, OSM, SERPINE1, PRKN, PCYT1A, MMP8, PDK1, PDK4, MMP3, ABCB1, MME, MFGE8, PPARG, MDH1, IL5, IL4, IL2RA, IL18BP, DENR, BECN1, TNFSF10, IER3, TIMELESS, NOL3, DNAJA3, GJA5, GJA1, GH1, DNAJC6, ELMO1, NR1I3, TRIM13, ELP1, GAB1, YAP1, FN1, FOXD4, POSTN, CELF1, F3, ESR1, NMU, WWP2, EEF1A2, NLRP1, MMRN1, GRK5, GSN, TIMP1, HRH2, TIMP2, TIMP4, TJP1, TLN1, TLR3, IFNB1, DNAJB1, HSPD1, TNFRSF1B, HSP90AA1, HSPA4, HSPA1B, PRMT1, HRC, LTBP4, HPRT1, TUFM, HLA-G, UTRN, VASP, WNT5A, HGF, HFE, CXCR4, SLMAP, PLA2G7, ARHGEF5, FXR1, GCH1
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Osteomas Of Mandible
Omim
Multiple smoothly outlined globoid osteomas occur on the jaw in Gardner syndrome (175100). Whether this tumor ever occurs as an inherited trait independent of intestinal polyps and other bony and soft-tissue tumors is not clear. ... Mandible - Multiple smoothly outlined globoid osteomas of jaw Inheritance - Autosomal dominant - ? same as Gardner syndrome (175100) ▲ Close
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Congenital Knee Dislocation
Orphanet
It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).
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Perioral Myoclonia With Absences
Orphanet
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. ... Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
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Neurometabolic Disorder Due To Serine Deficiency
Orphanet
Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).
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Peripheral Pulmonary Stenosis
Orphanet
Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome).
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Ganglioneuroblastoma
Orphanet
Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.PHOX2B, RET, MYO1H, EDN3, ASCL1, BDNF, GDNF, KIF1B, MYCN, TH, TP53, GAPDH, ALK, CCND1, CD44, BCL2, SIGLEC7, VIP, SST, TAC1, TCF3, TNFRSF1B, UCHL1, KHSRP, KDM1A, FUBP1, PDLIM5, WASF3, GALP, UQCC2, UTS2, PSIP1, SLC2A1, ACTB, PTHLH, IL2RB, CD58, CRH, CUX1, ERBB3, EWSR1, FGF8, GAP43, HCLS1, HIC1, INSM1, LGMN, ITGA5, ITGAV, LGALS3, NCAM1, NGF, ADRB3, NTRK1, NTRK2, PCNA, NPY
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Autosomal Dominant Primary Microcephaly
Orphanet
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities.
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Anonychia-Ectrodactyly
Omim
A suggestion of linkage with the Lutheran locus was presented. The distinctness from the EEC syndrome (129900), which combines ectrodactyly with ectodermal abnormalities and cleft lip-palate, is problematic. Nails - Anonychia Inheritance - Autosomal dominant - ? same as EEC syndrome (129900) Limbs - Ectrodactyly - Absent phalanges - Absent metacarpals Skin - Ectodermal dysplasia ▲ Close
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Lissencephaly Due To Lis1 Mutation
Orphanet
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.