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Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Orphanet
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. ... Differential diagnosis The major differential diagnosis is Marinesco-Sjogren syndrome. Genetic counseling Families benefit from genetic counselling and predictive testing.
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Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis
Orphanet
Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
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Fibrofolliculoma
Wikipedia
They are characteristically seen in Birt–Hogg–Dubé syndrome . [1] [2] : 674 See also [ edit ] List of cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes Trichodiscoma References [ edit ] ^ Freedberg, et al. (2003). ... ISBN 0-7216-2921-0 . v t e Cancers of skin and associated structures Glands Sweat gland Eccrine Papillary eccrine adenoma Eccrine carcinoma Eccrine nevus Syringofibroadenoma Spiradenoma Apocrine Cylindroma Dermal cylindroma Syringocystadenoma papilliferum Papillary hidradenoma Hidrocystoma Apocrine gland carcinoma Apocrine nevus Eccrine / apocrine Syringoma Hidradenoma or Acrospiroma / Hidradenocarcinoma Ceruminous adenoma Sebaceous gland Nevus sebaceous Muir–Torre syndrome Sebaceous carcinoma Sebaceous adenoma Sebaceoma Sebaceous nevus syndrome Sebaceous hyperplasia Mantleoma Hair Pilomatricoma / Malignant pilomatricoma Trichoepithelioma Multiple familial trichoepithelioma Solitary trichoepithelioma Desmoplastic trichoepithelioma Generalized trichoepithelioma Trichodiscoma Trichoblastoma Fibrofolliculoma Trichilemmoma Trichilemmal carcinoma Proliferating trichilemmal cyst Giant solitary trichoepithelioma Trichoadenoma Trichofolliculoma Dilated pore Isthmicoma Fibrofolliculoma Perifollicular fibroma Birt–Hogg–Dubé syndrome Hamartoma Basaloid follicular hamartoma Folliculosebaceous cystic hamartoma Folliculosebaceous-apocrine hamartoma Nails Neoplasms of the nailbed This Epidermal nevi, neoplasms, cysts article is a stub .
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Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Omim
The patient showed features of Waardenburg ophthalmoacromelic syndrome (206920), cerebrooculonasal syndrome (605627), and craniotelencephalic dysplasia (218670), but he did not show the complete pattern of any of these syndromes. ... Gupta et al. (2003) considered it possible that the patient had an undescribed syndrome most closely related to cerebrooculonasal syndrome with malformations outside the craniofacial region.
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Foix-Alajouanine Syndrome
Orphanet
Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. ... Epidemiology The prevalence is unknown. The syndrome most commonly affects men over the age of 50.
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Atrioventricular Septal Defect 5
Omim
AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). ... The patient had unbalanced AVSD, hypoplastic left ventricle, and 2 muscular ventricular septal defects with no additional evidence of heterotaxy syndrome (see 306955). INHERITANCE - Autosomal dominant CARDIOVASCULAR Heart - Atrioventricular septal defect, unbalanced - Hypoplastic left ventricle - Ventricular septal defect, muscular MOLECULAR BASIS - Caused by mutation in the GATA-binding protein-6 gene (GATA6, 601656.0004 ) ▲ CloseGATA6, GATA4, GJA1, TBX5, TBX1, GDF1, PTPN11, TRIO, WDPCP, SMARCA4, CDC45, HDAC8, ANKRD11, INTU, SMARCAL1, GATA1, NKX2-6, HYLS1, NKX2-5, PUF60, CRELD1, PITX2, BMP2, HEY2, TBX2, BMP4, FOXP1, BAZ2B, ACVR1, CHDH, CHD7, AUTS2, SALL4, MYL7, TAMM41, RBM24, NPNT, IFT172, AVSD1, CEMIP2, MTR, CASP3, RUNX2, ACE, ETV5, HTC2, IL1B, MDM4, NFATC1, IFT27, SLC19A1, SNAI1, SOX9, TFAP2B, ZIC3, HAND2, MED12, NEXMIF
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Maculopathy
Wikipedia
. ^ Handbook of Ocular Disease Management: Epiretinal membrane Archived 2008-04-28 at the Wayback Machine Retrieved on 2008-05-14 v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma OnchocerciasisABCA4, PRPH2, FAM111A, BEST1, PLXNA2, CRB1, MYP2, PROM1, EFEMP1, ELOVL4, CERKL, MFSD8, AIPL1, TST, PRPH, TIMP3, CFH, NHS, AMN, BCO1, CNGB3, FBN2, ABCG5, CCDC102B, PRXL2A, GPX3, CYP2U1, DRAM2, CX3CR1, MCDR3, BBS1, GUCY2EP, HMU, ZFYVE26, MCDR1, GSTP1, NR2E3, FADS2, GUCA1A, VEGFA, INS, ALDH3A2, LIPC, RPE65, RPE, LRP2, RDH5, SMAD4, CCR2
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Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Omim
A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome spondylodysplastic type 3 (EDSSPD3) is caused by homozygous mutation in the zinc transporter gene SLC39A13 (608735) on chromosome 11p11. Description Ehlers-Danlos syndrome spondylodysplastic type 3 is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features (Giunta et al., 2008). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. Clinical Features Giunta et al. (2008) described a 'spondylocheiro dysplastic form of Ehlers-Danlos syndrome' in 6 patients from 2 consanguineous families. ... Fukada et al. (2008) identified a homozygous loss-of-function mutation in the SLC39A13 gene (G74D; 608735.0002) in 2 sibs with an Ehlers-Danlos syndrome-like phenotype similar to that reported by Giunta et al. (2008).
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Isolated Hypogonadotropic Hypogonadism
Wikipedia
., reduced or absent puberty , [1] low libido , infertility , etc. due to an impaired release of the gonadotropins , follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and a resultant lack of sex steroid and peptides production by the gonads . [2] [3] In Kallmann syndrome , a variable non-reproductive phenotype occurs with anosmia (loss of the sense of smell ) including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. [4] Causes [ edit ] IHH is divided into two syndromes: IHH with olfactory alterations or anosmia, Kallmann syndrome and IHH with normal smell (normosmic IHH). [4] Kallmann syndrome is responsible for approximately 50% of all cases of the condition. ... You can help by adding to it . ( November 2017 ) See also [ edit ] Hypogonadotropic hypogonadism Hypergonadotropic hypogonadism Kallmann syndrome Genetics of GnRH deficiency conditions HPG axis Gonads ( testicles and ovaries ) GnRH and gonadotropins ( FSH and LH ) Sex hormones ( androgens and estrogens ) Fertile eunuch syndrome References [ edit ] ^ Young J. ... Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients. ... Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. Frontiers in Endocrinology 2014, 5: 109. review ^ "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview - GeneReviews™ - NCBI Bookshelf" .
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Penile Artery Shunt Syndrome
Wikipedia
Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( March 2014 ) Penile Artery Shunt Syndrome This is the pre-embolization arteriogram showing the aberrant obturator artery arising from the inferior epigastric artery, which contributed to the described Penile Artery Steal Syndrome. Penile Artery Shunt Syndrome (PASS) is an iatrogenic clinical phenomenon first described by Tariq Hakky, Christopher Yang, Jonathan Pavlinec, Kamal Massis, and Rafael Carrion within the Sexual Medicine Program in the Department of Urology, at the University of South Florida, and Ricardo Munarriz, of Boston University School of Medicine Department of Urology in 2013. ... The prevalence of an aberrant obturator artery arising from the inferior epigastric artery is approximately 10.5%. [2] If an aberrant obturator artery is visualized arising from the inferior epigastric artery prior to surgical penile revascularization, consideration should be given toward using an alternative source artery or to embolization to avoid the creation of a Penile Artery Shunt Syndrome encountered in this described case. History [ edit ] Penile Artery Shunt Syndrome (PASS) was initially described in a patient who underwent Penile Revascularization Surgery for isolated left cavernosal artery stenosis in the absence of systemic vascular risk factors.
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Thyroid Dyshormonogenesis
Wikipedia
Contents 1 Cause 2 Diagnosis 2.1 Types 3 Treatment 4 References 5 External links Cause [ edit ] This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes [ citation needed ] Diagnosis [ edit ] Types [ edit ] One particular familial form is associated with sensorineural deafness ( Pendred's syndrome ). [ citation needed ] OMIM includes the following: Type OMIM Gene Type 1 274400 SLC5A5 Type 2A 274500 TPO Type 2B 274600 (Pendred) SLC26A4 Type 3 274700 TG Type 4 274800 IYD Type 5 274900 DUOXA2 Type 6 607200 DUOX2 Treatment [ edit ] These patients respond well to levothyroxine (synthetic T4) and the goiter may decrease in size if any. ... External links [ edit ] Classification D ICD - 10 : E07.1 ICD - 9-CM : 246.1 MeSH : C564766 DiseasesDB : 9771 External resources Orphanet : 95716 v t e Thyroid disease Hypothyroidism Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Myxedema coma Euthyroid sick syndrome Signs and symptoms Queen Anne's sign Woltman sign Thyroid dyshormonogenesis Pickardt syndrome Hyperthyroidism Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Thyroid storm Graves' disease Signs and symptoms Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign lid lag Griffith's sign Möbius sign Pretibial myxedema Graves' ophthalmopathy Thyroiditis Acute infectious Subacute De Quervain's Subacute lymphocytic Palpation Autoimmune /chronic Hashimoto's Postpartum Riedel's Enlargement Goitre Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule Colloid nodule v t e Congenital endocrine disorders Pituitary Congenital hypopituitarism Thyroid Thyroid disease Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome Parathyroid Congenital absence of parathyroid Adrenal Absent adrenal gland v t e Genetic disorder , membrane: Solute carrier disorders 1-10 SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4 / Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25 21-40 SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload see also solute carrier family This article about an endocrine, nutritional, or metabolic disease is a stub .
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Metopism
Wikipedia
First edition of Gray's Anatomy , 1858 ( direct PDF link ) v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
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Alexander Disease
Wikipedia
OMIM entries on Alexander disease Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report Alexander Disease: New Insights From Genetics Classification D ICD - 10 : E75.2 ICD - 9-CM : 331.89 OMIM : 203450 137780 137780 203450 MeSH : D038261 External resources GeneReviews : Alexander disease Orphanet : 58 v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom? ] treatment Management of multiple sclerosis Alemtuzumab Cladribine Dimethyl fumarate Fingolimod Glatiramer acetate Interferon beta-1a Interferon beta-1b Mitoxantrone Natalizumab Ocrelizumab Ozanimod Siponimod Teriflunomide Other treatments Former Daclizumab Multiple sclerosis research Demyleinating diseases Autoimmune Multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Inflammatory Acute disseminated encephalomyelitis MOG antibody disease Balo concentric sclerosis Marburg acute multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Tumefactive multiple sclerosis Experimental autoimmune encephalomyelitis Hereditary Adrenoleukodystrophy Alexander disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus–Merzbacher disease Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with subcortical cysts CAMFAK syndrome Other Central pontine myelinolysis Marchiafava–Bignami disease Mitochondrial DNA depletion syndrome Other List of multiple sclerosis organizations List of people with multiple sclerosis Multiple sclerosis drug pipeline Pathophysiology 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
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Schamberg Disease
Wikipedia
CS1 maint: multiple names: authors list ( link ) External links [ edit ] Classification D ICD - 10 : L81.7 ICD - 9-CM : 709.09 MeSH : D010859 DiseasesDB : 30753 External resources eMedicine : derm/327 Patient UK : Schamberg disease v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation
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Asherman's Syndrome
Wikipedia
Asherman syndrome Other names Intrauterine adhesions ( IUA ) or Intrauterine synechiae Ultrasound view. ... References [ edit ] ^ Smikle C, Bhimji SS (2018). "Asherman Syndrome" . StatPearls. PMID 28846336 . ... S2CID 23594142 . ^ Klein SM, García CR (September 1973). "Asherman's syndrome: a critique and current review". ... "SprayGel following surgery for Asherman's syndrome may improve pregnancy outcome". ... S2CID 34164893 . ^ Dmowski WP, Greenblatt RB (August 1969). "Asherman's syndrome and risk of placenta accreta".
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Adrenoleukodystrophy
Wikipedia
The gene ABCD1 encodes a peroxisomal membrane transporter which is responsible for transporting very long chain fatty acid substrate into the peroxisomes for degradation. [5] Mutations in this gene that interfere with this process cause this syndrome. [ citation needed ] Males with an ABCD1 mutation are hemizygous , as they only have a single X chromosome. ... External links [ edit ] adrenoleukodystrophy at NINDS Adrenoleukodystrophy at National Center for Biotechnology Information Classification D ICD - 10 : E71.3 ICD - 9-CM : 330.0 , 277.86 OMIM : 300100 202370 MeSH : D000326 DiseasesDB : 292 External resources MedlinePlus : 001182 GeneReviews : X-Linked Adrenoleukodystrophy v t e Inborn error of lipid metabolism : fatty-acid metabolism disorders Synthesis Biotinidase deficiency (BTD) Degradation Acyl transport Carnitine CPT1 CPT2 CDSP CACTD Adrenoleukodystrophy (ALD) Beta oxidation General Acyl CoA dehydrogenase Short-chain SCADD Medium-chain MCADD Long-chain 3-hydroxy LCHAD Very long-chain VLCADD Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy Unsaturated 2,4 Dienoyl-CoA reductase deficiency (DECRD) Odd chain Propionic acidemia (PCC deficiency) Other 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD) Glutaric acidemia type 2 (MADD) To acetyl-CoA Malonic aciduria (MCD) Aldehyde Sjögren–Larsson syndrome (SLS) v t e Genetic disorder , organelle: Peroxisomal disorders and lysosomal structural disorders Peroxisome biogenesis disorder Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Adult Refsum disease-2 RCP 1 Enzyme-related Acatalasia RCP 2&3 Mevalonate kinase deficiency D-bifunctional protein deficiency Adult Refsum disease-1 Transporter-related X-linked adrenoleukodystrophy Lysosomal Danon disease See also: proteins , intermediates v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom? ] treatment Management of multiple sclerosis Alemtuzumab Cladribine Dimethyl fumarate Fingolimod Glatiramer acetate Interferon beta-1a Interferon beta-1b Mitoxantrone Natalizumab Ocrelizumab Ozanimod Siponimod Teriflunomide Other treatments Former Daclizumab Multiple sclerosis research Demyleinating diseases Autoimmune Multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Inflammatory Acute disseminated encephalomyelitis MOG antibody disease Balo concentric sclerosis Marburg acute multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Tumefactive multiple sclerosis Experimental autoimmune encephalomyelitis Hereditary Adrenoleukodystrophy Alexander disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus–Merzbacher disease Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with subcortical cysts CAMFAK syndrome Other Central pontine myelinolysis Marchiafava–Bignami disease Mitochondrial DNA depletion syndrome Other List of multiple sclerosis organizations List of people with multiple sclerosis Multiple sclerosis drug pipeline Pathophysiology v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia 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 transporters
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Mast Cell Activation Syndrome
Gard
Mast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems.
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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Orphanet
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (incl. gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.
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Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome
Orphanet
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity.
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Polysyndactyly-Cardiac Malformation Syndrome
Orphanet
Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.