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  • Permanent Congenital Hypothyroidism Orphanet
    Etiology Permanent CH has a variety of primary, secondary and peripheral causes and may occur as part of a syndrome (primary, secondary, peripheral or syndromic hypothyroidism; see these terms). ... Peripheral hypothyroidism may also be caused by defects in thyroid hormone transport, such as in Allan-Herndon-Dudley syndrome (see this term) where X-linked peripheral hypothyroidism is associated with intellectual deficiency and neurologic abnormalities including quadriplegia. Permanent CH may also be associated with a syndrome such as Pendred or Bamforth syndromes among others (see these terms).
  • Microcephaly Lymphoedema Chorioretinal Dysplasia Wikipedia
    Microcephaly lymphoedema chorioretinal dysplasia Other names MLCRD syndrome Microcephaly lymphoedema chorioretinal dysplasia is a genetic condition associated with: Small head ( Microcephaly ) Puffy feet ( Lymphoedema ) Eye problems (Chorio-retinal dysplasia i.e. changes in the retina ) In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity. Since then there have been further reports of children with these three features (Angle et al. 1994, Fryns et al. 1995, Limwongse et al. 1999, Casteels et al. 2001) Children have also been seen with two of the above features: Microcephaly and lymphoedema Microcephaly and chorioretinal dysplasia with or without intellectual disability Contents 1 Presentation 2 Genetics 3 Diagnosis 4 References 5 External links Presentation [ edit ] The distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears (Vasudevan 2005) Genetics [ edit ] The former (microcephaly and lymphoedema) has been described as an autosomal dominant (MIM 156590) or X-linked trait , while the latter (microcephaly and chorioretinal dysplasia) has been described as autosomal dominant, autosomal recessive (MIM 251270 or Mirhosseini-Holmes-Walton syndrome ) or X-linked trait. Diagnosis [ edit ] This section is empty. ... Feingold M, Bartoshesky L (1992) Microcephaly, lymphoedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet; 43:1030-1031. 2. ... Clin Genet; 48:131-133 4.Limwongse C, Wyszynski RE, Dickerman LH, Robin NH (1999) Microcephaly-lymphoedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. ... Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol.; 85(4):499-500 6.Crowe CA, Dickerman LH (1986).
    KIF11
    • Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation OMIM
      See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1. ... Hordijk et al. (1996) described a father and son with this syndrome. In addition to the usual manifestations, both had microcornea and overgrowth of the conjunctiva over the corneoscleral junction. ... He also had short stature, a feature that had not been described as part of this syndrome, even though it was present in 1 patient reported by Fryns et al. (1995). ... Vasudevan et al. (2005) stated that these cases support the hypothesis of a characteristic facial phenotype in MLCRD syndrome. Mirzaa et al. (2014) reported 5 unrelated patients with MCLMR. ... Ostergaard et al. (2012) concluded that the MLCRD and CDMMR syndromes should be considered a single entity with variable clinical features.
  • Pruritus Scroti Wikipedia
    External links [ edit ] Classification D ICD - 10 : L29.1 ( ILDS L29.100) ICD - 9-CM : 698.1 v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji 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 This cutaneous condition article is a stub .
  • Oculocutaneous Albinism Type 1b Orphanet
    Differential diagnosis Differential diagnoses include the other forms of OCA and X-linked recessive ocular albinism (XLOA) as well as syndromes with albinism as a feature, such as Hermansky-Pudlak syndromes 1-11, Chediak-Higashi syndrome, Griscelli syndromes 1-3, and Waardenburg syndrome type II.
    TYR
  • Oculocutaneous Albinism Type 1a Orphanet
    Differential diagnosis Differential diagnoses include the other forms of OCA and X-linked ocular albinism (XLOA) as well as syndromes with albinism as a feature such as Hermansky-Pudlak syndromes 1-11, Chediak-Higashi syndrome, Griscelli syndromes 1-3, and Waardenburg syndrome type II.
    TYR, CALR, CANX, HSPA5
    • Albinism, Oculocutaneous, Type Ia OMIM
      Van Dorp (1987) also concluded that patients with X-linked ocular albinism (300500, 300600) may be generally underpigmented and that patients with the Hermansky-Pudlak syndrome (203300) may have a dark complexion. ... Jay et al. (1982) tabulated the frequency of different types of albinism in England: tyrosine-negative OCA, 54; tyrosinase-positive OCA, 50; yellow mutant OCA, 7; Hermansky-Pudlak syndrome, 2; X-linked ocular albinism hemizygotes, 21, and heterozygotes, 15; autosomal recessive ocular albinism, 16. In surveying congenital anomaly syndromes in a Spanish gypsy population, Martinez-Frias and Bermejo (1992) found an impressive frequency of albinism. ... Gardner et al. (1992) demonstrated that the human homolog of the mouse p mutation is a gene located on 15q11.2-q12, a region associated with Prader-Willi syndrome (176270) and Angelman syndrome (105830); see 203200.
    • Oculocutaneous Albinism Type 1 GARD
      Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.
    • Oculocutaneous Albinism Type 1 Orphanet
      A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
    • Oculocutaneous Albinism Type I Wikipedia
      Oculocutaneous albinism type I Other names OCA1A or OCAIA Oculocutaneous albinism type I or type 1A [1] is an autosomal recessive skin disease . This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11 , long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1. References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): 203100 External links [ edit ] Classification D ICD - 10 : E70.3 OMIM : 203100 MeSH : C537729 External resources Orphanet : 352731 This genetic disorder article is a stub . You can help Wikipedia by expanding it . v t e
    • Oculocutaneous Albinism MedlinePlus
      Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).
  • 8p Inverted Duplication/deletion Syndrome Orphanet
    8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. ... Differential diagnosis Differential diagnosis includes other multiple congenital anomalies/intellectual deficit syndromes such as Trisomy 8p (see this term), in particular those with a 8p21-p22 duplication.
  • Jaw Claudication Wikipedia
    PMID 6823455 . v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotension This medical symptom article is a stub .
  • Erythema Multiforme Major Wikipedia
    The term "erythema multiforme majus" is sometimes used to imply a bullous (blistering) presentation. [2] According to some sources, there are two conditions included on a spectrum of this same disease process: Stevens–Johnson syndrome (SJS) Toxic epidermal necrolysis (TEN) which described by Alan Lyell and previously called Lyell syndrome[5]. ... "Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme" . Arch Dermatol . 129 (1): 92–6. doi : 10.1001/archderm.129.1.92 . ... Orphanet Journal of Rare Diseases 2010, 5:39 doi:10.1186/1750-1172-5-39 External links [ edit ] Classification D ICD - 9-CM : 695.12 v t e Urticaria and erythema Urticaria ( acute / chronic ) Allergic urticaria Urticarial allergic eruption Physical urticaria Cold urticaria Familial Primary cold contact urticaria Secondary cold contact urticaria Reflex cold urticaria Heat urticaria Localized heat contact urticaria Solar urticaria Dermatographic urticaria Vibratory angioedema Pressure urticaria Cholinergic urticaria Aquagenic urticaria Other urticaria Acquired C1 esterase inhibitor deficiency Adrenergic urticaria Exercise urticaria Galvanic urticaria Schnitzler syndrome Urticaria-like follicular mucinosis Angioedema Episodic angioedema with eosinophilia Hereditary angioedema Erythema Erythema multiforme / drug eruption Erythema multiforme minor Erythema multiforme major Stevens–Johnson syndrome , Toxic epidermal necrolysis panniculitis ( Erythema nodosum ) Acute generalized exanthematous pustulosis Figurate erythema Erythema annulare centrifugum Erythema marginatum Erythema migrans Erythema gyratum repens Other erythema Necrolytic migratory erythema Erythema toxicum Erythroderma Palmar erythema Generalized erythema This cutaneous condition article is a stub .
    HLA-B
    • Erythema Multiforme Major Orphanet
      A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.
  • Bulbar Palsy Wikipedia
    Degenerative diseases: amyotrophic lateral sclerosis , syringobulbia , Wolfram syndrome Inflammatory/infective: Guillain–Barré syndrome , poliomyelitis , Lyme disease Malignancy: brain-stem glioma , malignant meningitis Toxic: botulism , venom of bark scorpion (species Centruroides ), [2] some neurotoxic snake venoms [3] Autoimmune: myasthenia gravis Diagnosis [ edit ] Differential diagnosis [ edit ] In contrast, pseudobulbar palsy is a clinical syndrome similar to bulbar palsy but in which the damage is located in upper motor neurons of the corticobulbar tracts in the mid-pons (i.e., in the cranial nerves IX-XII), that is the nerve cells coming down from the cerebral cortex innervating the motor nuclei in the medulla. ... Archived from the original on 2011-04-27. ^ http://www.us.elsevierhealth.com/wilderness-medicine-9781437716788.html [ permanent dead link ] ^ http://www.us.elsevierhealth.com/wilderness-medicine-9781437716788.html [ permanent dead link ] v t e Cranial nerve disease Olfactory Optic Oculomotor Oculomotor nerve palsy Trochlear Trochlear nerve palsy Trigeminal Trigeminal neuralgia Abducens Abducens nerve palsy Facial Central facial palsy Facial nerve paralysis Bell's palsy Vestibulocochlear Glossopharyngeal Vagus Accessory Accessory nerve disorder Hypoglossal Combined syndromes Bulbar palsy Jugular foramen syndrome Cavernous sinus thrombosis External links [ edit ] Classification D ICD - 10 : G12.2 ICD - 9-CM : 335.22 OMIM : 211530 MeSH : D010244 DiseasesDB : 16043
    SLC52A3, ACTA1, TBK1, TK2, TPM2, TPM3, VCP, CNTNAP1, SQSTM1, PLAA, MATR3, TARDBP, TRPM7, ABCD1, LMOD3, SELENON, SLC5A7, SLC52A2, SYT2, C9orf72, DOK7, AGRN, VAMP1, SNAP25, SLC25A1, FUS, AR, ARSA, CACNA1A, CHAT, CHRNA1, CHRNE, COL13A1, DES, GSN, MECP2, MYH7, MYO9A, NEB, RYR1, ATXN1, SCN8A, SLC18A3, CHCHD10, IGFALS, SOD1, LAMC2, CSF2
  • Congenital Disorders Of Amino Acid Metabolism Wikipedia
    Contents 1 Types 2 Amino acid transport disorders 3 Amino acid storage disorders 4 References 5 External links Types [ edit ] Alkaptonuria Aspartylglucosaminuria Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia Trimethylaminuria Hartnup disease Biotinidase deficiency Ornithine carbamoyltransferase deficiency Carbamoyl-phosphate synthase I deficiency disease Citrullinemia Hyperargininemia Hyperhomocysteinemia Hypermethioninemia Hyperlysinemias Nonketotic hyperglycinemia Propionic acidemia Hyperprolinemia Amino acid transport disorders [ edit ] Cystinuria Dicarboxylic aminoaciduria Hartnup disease Amino acid storage disorders [ edit ] Glutaric acidemia type 2 References [ edit ] External links [ edit ] Classification D ICD - 10 : E70 - E72 ICD - 9-CM : 270 MeSH : D000592 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria This article about an endocrine, nutritional, or metabolic disease is a stub .
  • Lethal Congenital Contracture Syndrome 10 OMIM
    A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-10 (LCCS10) is caused by homozygous mutation in the NEK9 gene (609798) on chromosome 14q24. For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). Clinical Features Casey et al. (2016) studied 2 Irish Traveller families with a recessive lethal skeletal dysplasia.
    NEK9, ZC2HC1C
    • Nek9-Related Lethal Skeletal Dysplasia Orphanet
      NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
  • Aminopterin/methotrexate Embryofetopathy Orphanet
    A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. ... Psychomotor development is usually normal, but cases with mild to severe intellectual deficit are reported. Etiology The syndrome is caused by exposure during the first trimester of pregnancy to aminopterin or MTX, two folate antagonists. ... Differential diagnosis Differential diagnosis includes various genetic diseases presenting with one of the following signs: anomalies of the developing calvaria, micrognathia with cleft palate (including Pierre Robin syndrome - see this term), limb reduction defects and hand/feet anomalies. An "aminopterin syndrome sine aminopterin (ASSA) syndrome" (see this term) has been described..
  • Congenital Heart Defects And Skeletal Malformations Syndrome OMIM
    A number sign (#) is used with this entry because of evidence that congenital heart defects and skeletal malformations syndrome(CHDSKM) is caused by heterozygous mutation in the ABL1 gene (189980) on chromosome 9q34. Description Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood.
    ABL1
  • Double Outlet Right Ventricle Wikipedia
    For example: in DORV with a subaortic VSD, blood from the LV flows through the VSD to the aorta and blood from the RV flows mainly to the pulmonary artery, yielding physiology similar to ventricular septal defect in DORV with a subpulmonic VSD (called Taussig-Bing syndrome ), blood from the LV flows through the VSD to the pulmonary artery and blood from the RV flows mainly to the aorta, yielding physiology similar to Transposition of the Great Arteries but if there is pulmonic stenosis in addition, physiology resembles Tetralogy of Fallot in other forms of DORV, blood from both ventricles is substantially mixed in the RV, yielding physiology that resembles a large VSD but again, if there is pulmonic stenosis , physiology resembles Tetralogy of Fallot Treatment [ edit ] DORV is treated with surgery. ... External links [ edit ] Classification D ICD - 10 : Q20.1 ICD - 9-CM : 745.11 OMIM : 217095 MeSH : D004310 DiseasesDB : 32215 External resources MedlinePlus : 007328 eMedicine : ped/2509 ped/2508 Orphanet : 3426 v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion
    CFC1, GDF1, YES1, ECE1, CFC1B, TBX1, ZFPM2, NR2F2, NKX2-5, GATA4, LRRC56, TRAF7, SEMA3E, TBC1D24, NKX2-6, CHD7, GATA5, PKD1L1, CERS1, WASHC5, TMEM94, CRELD1, ARID1A, ZFPM2-AS1, UBE2A, GATA6, TBX2, PEX19, MMP2, MMP14, PAH, ZIC3, GPC3, ISL1, CHDH, MEF2C, TBX20, FGFR2, IFT88, MOSPD1, PAX3, DVL3, PITX2, WDFY3, TGFB2, MATR3, HAND1, MESP1
    • Double Outlet Right Ventricle Orphanet
      DORV is associated with chromosomal anomalies such as 22q11.2 deletion syndrome, trisomy 13, trisomy 18 and CHARGE syndrome and others.
  • Tyrosinemia Type Iii Wikipedia
    External links [ edit ] Classification D ICD - 10 : E70.2 ICD - 9-CM : 270.2 OMIM : 276710 MeSH : D020176 DiseasesDB : 29836 External resources eMedicine : ped/2339 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria
    HPD, FAH, TAT, HPPD
    • Tyrosinemia, Type Iii OMIM
      A number sign (#) is used with this entry because tyrosinemia type III (TYRSN3) is caused by homozygous or compound heterozygous mutation in the HPD gene (609695), encoding 4-hydroxyphenylpyruvate dioxygenase, on chromosome 12q24. Heterozygous mutation in the HPD gene can cause hawkinsinuria (140350). Description Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). Clinical Features Giardini et al. (1983) described tyrosinemia without liver dysfunction due apparently to deficiency of 4-hydroxyphenylpyruvate dioxygenase (4HPPD).
    • Tyrosinemia Type 3 Orphanet
      Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. Epidemiology It is the least frequent form of tyrosinemia (see this term) with less than 20 cases reported in the literature so far. Clinical description The clinical picture is highly variable ranging from asymptomatic in patients identified through neonatal screening program studies to patients with neurologic manifestations including intellectual deficit and ataxia. Etiology Tyrosinemia type 3 is caused by mutations in the HPD gene (12q14-qter) encoding 4-hydroxyphenylpyruvate dioxygenase. Genetic counseling Tyrosinemia type 3 is transmitted as an autosomal recessive trait Management and treatment Despite the variable clinical picture, patients with tyrosinemia type 3 are recommended to follow a phenylalanine- and tyrosine-restricted diet.
    • Tyrosinemia Type 3 GARD
      Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.
  • Coffin-Siris Syndrome 10 OMIM
    A number sign (#) is used with this entry because of evidence that Coffin-Siris syndrome-10 (CSS10) is caused by heterozygous mutation in the SOX4 gene (184430) on chromosome 6p22. Description Coffin-Siris syndrome-10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. ... For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features Zawerton et al. (2019) reported 4 patients with global developmental delay, mild to severe intellectual disability, similar facial dysmorphism with anteverted nares, wide mouth with cupid bow, posteriorly rotated ears, and fifth finger clinodactyly.
  • Hypoaldosteronism Wikipedia
    External links [ edit ] Classification D ICD - 10 : E27.4 MeSH : D006994 DiseasesDB : 20960 v t e Adrenal gland disorder Hyperfunction Aldosterone Hyperaldosteronism Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced osteoporosis Sex hormones 21α CAH 11β CAH Hypofunction Aldosterone Hypoaldosteronism 21α CAH 11β CAH Cortisol CAH Lipoid 3β 11β 17α 21α Sex hormones 17α CAH Inborn errors of steroid metabolism Adrenal insufficiency Adrenal crisis Adrenalitis Xanthogranulomatous Addison's disease Waterhouse–Friderichsen syndrome
    CYP11B2, RHCG, POMC, REN, CYP21A2, NR0B1, MC2R, TPO, GGCT, CHD7, SLC30A10, PTH, SCNN1G, CYP2C19, NR3C2, HSD3B2, CYP17A1, SLC30A8
    • Hypoaldosteronism GARD
      Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. The symptoms of this condition include low sodium ( hyponatremia ), too much potassium ( hyperkalemia ), and a condition where the body produces too much acid ( metabolic acidosis ). These symptoms may cause muscle weakness, nausea, heart palpitations, irregular heartbeat, and abnormal blood pressure. Hypoaldosteronism may be described as hyporeninemic (low renin level) or hyperreninemic (high renin level) based on the amount of another chemical produced in the kidneys called renin. Hypoaldosteronism can be caused by other health conditions or medications.
  • Trichomegaly Wikipedia
    Contents 1 Etiology 1.1 Congenital Syndromes 1.2 Acquired disorders 1.3 Drugs 2 Diagnosis 3 See also 4 References Etiology [ edit ] There are several causal agents for this disorder; these can be divided into three main categories and include the following: [4] Congenital Syndromes [ edit ] Oliver–McFarlane syndrome Cornelia de Lange Syndrome Cone-rod dystrophy Tetralogy of Fallot Hermansky–Pudlak syndrome Goldstein Hutt Syndrome Phylloid hypomelanosis Acquired disorders [ edit ] Areata alopecia Connective tissue disorders , such as Lupus Dermatomyositis Hen fever Atopic dermatitis HIV/AIDS Renal metastatic Adenocarcinoma Eating disorders , such as Anorexia nervosa Pregnancy Drugs [ edit ] Prostaglandin analogues Cetuximab Bimatoprost , Latanoprost Phenytoin Minoxidil Ciclosporin Topiramate Streptomycin Systemic corticosteroids Penicillamine Diagnosis [ edit ] This section is empty.
    FGF5
    • Familial Isolated Trichomegaly Orphanet
      Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
    • Trichomegaly OMIM
      A number sign (#) is used with this entry because of evidence that trichomegaly (TCMGLY) is caused by homozygous mutation in the FGF5 gene (165190) on chromosome 4q21. Clinical Features Unusually long eyelashes is a morphologic trait which is observed in multiple relatives and has been reported in association with a variety of medical problems as indicated by Goldstein and Hutt (1972). They found it with cataract in a brother and sister who also had hereditary spherocytosis. Gray (1944), who appears to have coined the term 'trichomegaly,' reported the trait in father and daughter. Harrison and Mullaney (1997) observed an 18-month-old girl with marked elongation of the eyelashes and corneal irritation.
  • Duodenal Cancer Wikipedia
    Familial adenomatous polyposis (FAP), Gardner syndrome , Lynch syndrome , Muir–Torre syndrome , celiac disease , Peutz–Jeghers syndrome , Crohn's disease and juvenile polyposis syndrome are risk factors for developing this cancer. [1] The duodenum is the first part of the small intestine. ... External links [ edit ] Classification D ICD - 10 : C17.0 ICD - 9-CM : 152.0 MeSH : D004379 SNOMED CT : 363403002 v t e Digestive system neoplasia GI tract Upper Esophagus Squamous cell carcinoma Adenocarcinoma Stomach Gastric carcinoma Signet ring cell carcinoma Gastric lymphoma MALT lymphoma Linitis plastica Lower Small intestine Duodenal cancer Adenocarcinoma Appendix Carcinoid Pseudomyxoma peritonei Colon/rectum Colorectal polyp : adenoma , hyperplastic , juvenile , sessile serrated adenoma , traditional serrated adenoma , Peutz–Jeghers Cronkhite–Canada Polyposis syndromes: Juvenile MUTYH-associated Familial adenomatous / Gardner's Polymerase proofreading-associated Serrated polyposis Neoplasm: Adenocarcinoma Familial adenomatous polyposis Hereditary nonpolyposis colorectal cancer Anus Squamous cell carcinoma Upper and/or lower Gastrointestinal stromal tumor Krukenberg tumor (metastatic) Accessory Liver malignant : Hepatocellular carcinoma Fibrolamellar Hepatoblastoma benign : Hepatocellular adenoma Cavernous hemangioma hyperplasia : Focal nodular hyperplasia Nodular regenerative hyperplasia Biliary tract bile duct : Cholangiocarcinoma Klatskin tumor gallbladder : Gallbladder cancer Pancreas exocrine pancreas : Adenocarcinoma Pancreatic ductal carcinoma cystic neoplasms : Serous microcystic adenoma Intraductal papillary mucinous neoplasm Mucinous cystic neoplasm Solid pseudopapillary neoplasm Pancreatoblastoma Peritoneum Primary peritoneal carcinoma Peritoneal mesothelioma Desmoplastic small round cell tumor
    APC, ERBB2, JAK2, KRAS, MDK, MSH2, MUTYH, PMS2
  • Arthropathy Wikipedia
    Joint diseases can be classified as follows: Arthritis Infectious arthritis Septic arthritis (infectious) Tuberculosis arthritis Reactive arthritis (indirectly) Noninfectious arthritis Seronegative spondyloarthropathy : Psoriatic arthritis Ankylosing spondylitis Rheumatoid arthritis : Felty's syndrome Juvenile idiopathic arthritis Adult-onset Still's disease Crystal arthropathy Gout Chondrocalcinosis Osteoarthritis Hemarthrosis (joint bleeding) Synovitis is the medical term for inflammation of the synovial membrane . ... Retrieved November 23, 2012. ^ thefreedictionary.com/spondyloarthropathy citing: Mosby's Medical Dictionary, 8th edition. © 2009 Miller-Keane Encyclopedia & Dictionary of Medicine, Nursing, and Allied Health , Seventh Edition. © 2003 Saunders Comprehensive Veterinary Dictionary, 3 ed. © 2007 External links [ edit ] Classification D ICD - 10 : M00 - M14 ICD - 9-CM : 716.9 MeSH : D007592 DiseasesDB : 15237 v t e Diseases of joints General Arthritis Monoarthritis Oligoarthritis Polyarthritis Symptoms Joint pain Joint stiffness Inflammatory Infectious Septic arthritis Tuberculosis arthritis Crystal Chondrocalcinosis CPPD (Psudogout) Gout Seronegative Reactive arthritis Psoriatic arthritis Ankylosing spondylitis Other Juvenile idiopathic arthritis Rheumatoid arthritis Felty's syndrome Palindromic rheumatism Adult-onset Still's disease Noninflammatory Hemarthrosis Osteoarthritis Heberden's node Bouchard's nodes Osteophyte v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads
    GHR, LBR, NT5E, PTPN11, VCP, EMG1
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