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Choroideremia
Wikipedia
Choroideremia Research Foundation is an international not-for-profit organization dedicated to supporting the Choroideremia community 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 Onchocerciasis 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 Inherited disorders of trafficking / vesicular transport proteins Vesicle formation Lysosome / Melanosome : HPS1 – HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome COPII : SEC23A Cranio-lenticulo-sutural dysplasia COG7 CDOG IIE APC: AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3 Rab ARL6 BBS3 RAB27A Griscelli syndrome 2 CHM Choroideremia MLPH Griscelli syndrome 3 Cytoskeleton Myosin : MYO5A Griscelli syndrome 1 Microtubule : SPG4 Hereditary spastic paraplegia 4 Kinesin : KIF5A Hereditary spastic paraplegia 10 Spectrin : SPTBN2 Spinocerebellar ataxia 5 Vesicle fusion Synaptic vesicle : SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4 Caveolae : CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B , Long QT syndrome 9 Vacuolar protein sorting : VPS33B ARC syndrome VPS13B Cohen syndrome DYSF Distal muscular dystrophy See also vesicular transport proteins
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Hemidystonia-Hemiatrophy Syndrome
Orphanet
HD (sustained and repetitive muscle contractions resulting in abnormal movements or posture involving a single side of the body) is preceded in 90 % of cases by hemiparesis with a marked improvement before the onset of HD. Pyramidal syndrome and seizures may also be observed. ... Cerebral HA can lead to ipsilateral skull thickening and hyperpneumatization of paranasal sinuses, resulting in Dyke-Davidoff syndrome. Differential diagnosis HD-HA syndrome should be differentiated from other causes of primary dystonia or dystonia secondary to inherited disorders or neurodegenerative diseases. ... Deep brain stimulation mainly targeting the globus pallidus is not a routine treatment of HD-HA syndrome, but may be discussed in the most severe cases on an individual basis.
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Grinspan's Syndrome
Wikipedia
Grinspan's syndrome Grinspan syndrome is a syndrome characterized by presence of the triad: essential hypertension , diabetes mellitus , and oral lichen planus . [1] Oral lichen planus is thought to be a result of the drugs used for treatment of hypertension and diabetes mellitus but this is not confirmed. [ citation needed ] References [ edit ] ^ Lamey PJ, Gibson J, Barclay SC, Miller S (August 1990). "Grinspan's syndrome: a drug-induced phenomenon?". Oral Surg.
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Pelvis Syndrome
Wikipedia
PELVIS syndrome Specialty Dermatology PELVIS syndrome is a congenital condition characterized by p erineal hemangioma , e xternal genitalia malformations, l ipomyelomeningocele, v esicorenal abnormalities, i mperforate anus, and s kin tag . [1] See also [ edit ] SACRAL syndrome List of cutaneous conditions References [ edit ] ^ Girard C., Bigorre M., Guillot B., Bessis D. (2006). "PELVIS Syndrome" . Archives of Dermatology . 142 (7): 884–888. doi : 10.1001/archderm.142.7.884 .
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Dead Arm Syndrome
Wikipedia
Dead arm syndrome starts with repetitive motion and forces on the posterior capsule of the shoulder . ... The shoulder is unstable and dislocation may come next. Dead arm syndrome will not go away on its own with rest—it must be treated. ... "The relationship between dead arm syndrome and thoracic outlet syndrome".
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Pituitary Disease
Wikipedia
Pituitary disease Pituitary Specialty Endocrinology A pituitary disease is a disorder primarily affecting the pituitary gland . [1] The main disorders involving the pituitary gland are: Condition Direction Hormone Acromegaly overproduction growth hormone Cushing's disease overproduction adrenocorticotropic hormone Growth hormone deficiency underproduction growth hormone Syndrome of inappropriate antidiuretic hormone overproduction vasopressin Diabetes insipidus (can also be nephrogenic ) underproduction vasopressin Sheehan syndrome underproduction any pituitary hormone Pickardt-Fahlbusch Syndrome underproduction any pituitary hormone , except prolactin , which is increased Hyperpituitarism (most commonly pituitary adenoma ) overproduction any pituitary hormone Hypopituitarism underproduction any pituitary hormone Overproduction or underproduction of a pituitary hormone will affect the respective end-organ. ... This topic last updated: July 2, 2009 External links [ edit ] Classification D MeSH : D010900 v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenomaLEPR, PRL, POMC, COL4A2, GH1, GAN, POU1F1, SLC20A1, IGF1, SST, GNRHR, GNRH1, PROP1, CRH, GHRH, AIP, GCG, LHX3, ESR1, VIP, LEP, CTNNB1, MEN1, SOCS3, AVPR1B, NR0B1, BRD2, LHX4, RETN, KISS1R, TACR3, KLK10, REN, RET, SFPQ, SLC6A4, SCG2, SOX2, HESX1, VEGFA, TTF1, SOX3, TSHB, TRH, TNF, SSTR4, NKX2-1, STAT3, THRB, TH, ADRA1A, APLN, UCN2, APH1A, MAGEL2, CAND1, ACKR3, SLC2A11, PAQR8, CABLES1, USP8, GNRHR2, SLCO6A1, TINCR, NEAT1, ZACN, GSTK1, PRLH, REM1, DLL1, HPGDS, FGF21, SIRT1, RPH3A, SOX21, C1QL1, NMU, CXCR6, WFDC2, IKZF1, CST8, ADIPOQ, LHX2, PRNP, LPAR2, PIK3CD, PRLR, CAT, EPHB2, ENPEP, EIF2S3, EGR4, EGF, EDNRA, CYP19A1, CSH2, CSH1, CRP, CRHR1, CIRBP, CHGB, CDKN1B, BRS3, FKBP5, BMP2, BGLAP, AVPR1A, AVP, AR, KLK3, APRT, APOE, AMY1C, AMY1B, AMY1A, AMH, AHR, JAG1, EPO, FSHB, MAPK1, MFAP1, PRKACA, PLAGL1, PITX2, PIK3CG, ADRA2B, PIK3CB, PIK3CA, PDGFRB, PDGFRA, NUCB2, NPY, NFKB2, NF1, NEUROD1, MDK, GDNF, MC4R, MC2R, LIF, L1CAM, KISS1, IRF6, IL1B, IGFBP7, IGFBP1, HMOX1, HLA-DOA, GPR42, GNRH2, GHRHR, C5orf66-AS1
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Attenuated Chédiak-Higashi Syndrome
Orphanet
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. ... Genetic counseling Attenuated Chédiak-Higashi syndrome is inherited in an autosomal recessive manner.
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Gata2 Deficiency
Gard
GATA2 deficiency is a rare genetic disease that can present as several distinct syndromes: dendritic cell, monocyte, B, and natural killer lymphoid deficiency (monocytopenia and mycobacterial infection syndrome); familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML) ; deafness-lymphedema-leukemia syndrome (Emberger syndrome); or natural killer (NK) cell deficiency .
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Atypical Werner Syndrome
Orphanet
An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. ... Etiology A subset of atypical WS is caused by the mutation of the LMNA gene, the same causal gene seen in Hutchinson-Gilford progeria syndrome (HGPS; see this term) that codes for the nuclear intermediate filament, lamin A/C.
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Hyper-Igd Syndrome
Gard
Hyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency . ... Growth and development is usually not affected. Hyper IgD syndrome is caused by mutations in the MVK gene which provides instructions for making the mevalonate kinase enzyme.
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Foveal Hypoplasia-Presenile Cataract Syndrome
Orphanet
Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides.
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Macular Coloboma-Cleft Palate-Hallux Valgus Syndrome
Orphanet
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus.
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Czeizel-Losonci Syndrome
Orphanet
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida.
- X-Linked Cone Dysfunction Syndrome With Myopia Orphanet
- Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis Orphanet
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Ring Chromosome 21 Syndrome
Orphanet
Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly).
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Arterial Dissection-Lentiginosis Syndrome
Orphanet
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
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Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Orphanet
An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia.
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Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Orphanet
An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay.
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Amaurosis-Hypertrichosis Syndrome
Orphanet
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis).