-
Beckwith–wiedemann Syndrome
Wikipedia
Syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations Beckwith-Wiedemann syndrome Adrenal gland: Beckwith-Wiedemann syndrome Nuclear enlargement and hyperchromasia with nuclear "pseudoinclusion" near the center of field. ... ART has been associated with epigenetic syndromes, specifically BWS and Angelman syndrome . ... Hans-Rudolf Wiedemann , a German pediatrician, independently reported cases of a proposed new syndrome. [26] [27] Originally termed EMG syndrome (for exomphalos , macroglossia , and gigantism ), this syndrome over time became known as Beckwith–Wiedemann syndrome or Wiedemann Beckwith syndrome. ... "The Clinical Course of an Overgrowth Syndrome, From Diagnosis in Infancy Through Adulthood: The Case of Beckwith-Weidemann Syndrome". ... PMID 14231762 . ^ Biographical note Further reading [ edit ] GeneReview/UW/NIH entry on Beckwith-Wiedemann syndrome External links [ edit ] Classification D ICD - 10 : Q87.3 ICD - 9-CM : 759.89 OMIM : 130650 MeSH : D001506 DiseasesDB : 14141 External resources MedlinePlus : 001186 eMedicine : ped/218 Patient UK : Beckwith–Wiedemann syndrome GeneReviews : Beckwith-Wiedemann Syndrome v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Disorders due to genomic imprinting Chromosome 15 Angelman syndrome ♀ / Prader-Willi syndrome ♂ Chromosome 11 Beckwith–Wiedemann syndrome ♀ / Silver–Russell syndrome ♂ Myoclonic dystonia Chromosome 20 Pseudohypoparathyroidism ♀ / Pseudopseudohypoparathyroidism ♂ Chromosome 6 Transient neonatal diabetes mellitus v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22CDKN1C, IGF2, H19, KCNQ1OT1, KCNQ1, NSD1, H19-ICR, SPTBN1, PIK3CA, CIB2, TGM1, CTCF, WDR20, UROD, RSS, AFP, IGF1, CORO1A, SMS, PLAGL1, H3P47, GPC3, HRAS, ELN, GTF2I, GNAS, IGF2R, DNMT1, GTF2IRD1, GRB10, DLK1, MYOD1, CALCA, HIC1, PALB2, CD48, NLRP2, ZDBF2, IFT46, IGF1R, ZNF44, ATAD5, TRPM5, C11orf21, PHPT1, PGAP2, TBL2, SMUG1, CEND1, FRA18C, ZNF436, CBS, PERCC1, ASAH1, CBSL, DEL11P13, IH, INS-IGF2, POU5F1P4, POU5F1P3, ZACN, ZFP57, ZNF763, VPS51, NLRP7, ZNF569, AMER1, CMTR1, ZNF501, ZNF629, TBPL1, CD81, DDX11, S100A8, PTH, POU5F1, PLXNA2, PAX6, SLC22A18, NRAS, MTHFR, TRPM1, MAT1A, SMAD3, LMO1, LGALS1, KCNJ11, JBS, SNRPN, SOX2, SOX3, ZNF214, DIO3, HTC2, IL1RL1, SGCE, RASSF7, ZNF215, ZNF143, ABCC8, WT1, WEE1, APC, TP53, TFPI, TERT, TYRP1
-
Locked-In Syndrome
Wikipedia
Condition in which a patient is aware but completely paralysed Locked-in syndrome Other names Cerebromedullospinal disconnection, [1] de-efferented state, pseudocoma, [2] ventral pontine syndrome Locked-in syndrome can be caused by a stroke at the level of the basilar artery denying blood to the pons , among other causes. ... "Seven cases of cerebromedullospinal disconnection: the "locked-in" syndrome". Neurology . 21 (11): 1140–8. doi : 10.1212/wnl.21.11.1140 . ... ISBN 978-0-85186-257-6 . ^ León-Carrión, J.; van Eeckhout, P.; Domínguez-Morales Mdel, R.; Pérez-Santamaría, F. J. (2002). "The locked-in syndrome: a syndrome looking for a therapy". ... PMID 12119076 . ^ Maiese, Kenneth (March 2014). "Locked-in Syndrome" . ^ Locked-in syndrome at NINDS ^ Joshua Foer (October 2, 2008). ... Lukasz Swiderski ISBN 978-0-9928486-0-6 (Autobiography, written while residual wrist movements and specially adapted computer) External links [ edit ] Classification D ICD - 10 : G93.8 ICD - 9-CM : 344.81 MeSH : D011782 v t e Disorders of consciousness Unconsciousness Minimally conscious state Persistent vegetative state Obtundation Coma Brain stem death Stupor Sopor Sleep Somnolence Cataplexy Syncope Heat syncope Vasovagal episode Alteration of consciousness Locked-in syndrome v t e Symptoms , signs and syndromes associated with lesions of the brain and brainstem Brainstem Medulla (CN 8, 9, 10, 12) Lateral medullary syndrome/Wallenberg PICA Medial medullary syndrome/Dejerine ASA Pons (CN 5, 6, 7, 8) Upper dorsal pontine syndrome/Raymond-Céstan syndrome Lateral pontine syndrome ( AICA ) (lateral) Medial pontine syndrome / Millard–Gubler syndrome / Foville's syndrome ( basilar ) Locked-in syndrome Internuclear ophthalmoplegia One and a half syndrome Midbrain (CN 3, 4) Weber's syndrome ventral peduncle, PCA Benedikt syndrome ventral tegmentum, PCA Parinaud's syndrome dorsal, tumor Claude's syndrome Other Alternating hemiplegia Cerebellum Latearl Dysmetria Dysdiadochokinesia Intention tremor ) Medial Cerebellar ataxia Basal ganglia Chorea Dystonia Parkinson's disease Cortex ACA syndrome MCA syndrome PCA syndrome Frontal lobe Expressive aphasia Abulia Parietal lobe Receptive aphasia Hemispatial neglect Gerstmann syndrome Astereognosis Occipital lobe Bálint's syndrome Cortical blindness Pure alexia Temporal lobe Cortical deafness Prosopagnosia Thalamus Thalamic syndrome Other Upper motor neuron lesion Aphasia
-
Ohtahara Syndrome
Wikipedia
Ohtahara syndrome [1] Other names Early infantile epileptic encephalopathy with burst-suppression Specialty Neurology Ohtahara syndrome ( OS ), also known as early infantile epileptic encephalopathy (EIEE) [2] is a progressive epileptic encephalopathy . ... PMID 20196795 . ^ a b c d e f g h "Ohtahara Syndrome" . Epilepsy Foundation . Retrieved 2019-12-13 . ^ a b c d "OHTAHARA SYNDROME" . www.epilepsydiagnosis.org . ... "Orphanet: Early infantile epileptic encephalopathy Ohtahara syndrome" . www.orpha.net . Retrieved 2019-12-13 . ^ a b "Ohtahara Syndrome" . ... "Early-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy" . ... External links [ edit ] Classification D ICD - 10 : G40.4 OMIM : 308350 DiseasesDB : 33878 v t e Seizures and epilepsy Basics Seizure types Aura (warning sign) Postictal state Epileptogenesis Neonatal seizure Epilepsy in children Management Anticonvulsants Investigations Electroencephalography Epileptologist Personal issues Epilepsy and driving Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised Tonic–clonic Absence seizure Atonic seizure Automatism Benign familial neonatal seizures Lennox–Gastaut syndrome Myoclonic astatic epilepsy Epileptic spasms Status epilepticus Epilepsia partialis continua Complex partial status epilepticus Myoclonic epilepsy Progressive myoclonus epilepsy Dentatorubral–pallidoluysian atrophy Unverricht–Lundborg disease MERRF syndrome Lafora disease Juvenile myoclonic epilepsy Non-epileptic seizure Febrile seizure Psychogenic non-epileptic seizure Related disorders Sudden unexpected death in epilepsy Todd's paresis Landau–Kleffner syndrome Epilepsy in animals Organizations Citizens United for Research in Epilepsy (US) Epilepsy Action (UK) Epilepsy Action Australia Epilepsy Foundation (US) Epilepsy Outlook (UK) Epilepsy Research UK Epilepsy Society (UK) v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
-
Generalized Lentiginosis
Wikipedia
Generalized lentiginosis Other names Familial multiple lentigines syndrome without systemic involvement [1] Generalized lentiginosis is inherited in an autosomal dominant manner Specialty Dermatology Generalized lentiginosis is a cutaneous condition that will occasionally present without other associated abnormalities. [2] : 686 It may be caused by carney complex , LEOPARD syndrome or Peutz–Jeghers syndrome . ... External links [ edit ] Classification D ICD - 10 : L81.4 ( ILDS L81.406) OMIM : 151001 MeSH : C573023 External resources Orphanet : 231040 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 This cutaneous condition article is a stub .
-
Chédiak–higashi Syndrome
Wikipedia
Please consider expanding the lead to provide an accessible overview of all important aspects of the article. ( December 2016 ) Béguez-Chédiak–Higashi syndrome Béguez-Chédiak–Higashi syndrome is inherited in an autosomal recessive manner Specialty Endocrinology Béguez-Chédiak–Higashi syndrome [1] ( CHS ) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis . ... The syndrome is associated with oculocutaneous albinism . ... PMID 19067971 . ^ "Chédiak–Higashi syndrome" . Merck Manuals . Retrieved 2008-03-01 . ^ "Chediak Higashi syndrome" . ... ISSN 0864-0289 . ^ Saez-De-Ocariz M, Orozco-Covarrubias L, Duràn-McKinster C, Ruiz-Maldonado R (2008). "Silver hair syndromes: Chediak–Higashi syndrome (CHS) and Griscelli syndromes (GS)". ... ISBN 978-3-211-21396-4 . ^ Australian blue rats: a hypothesis ^ a b c Australian blue rats: a hypothesis ^ The Orca Ocean External links [ edit ] Classification D ICD - 10 : E70.3 (E70.340 ILDS ) ICD - 9-CM : 288.2 OMIM : 214500 MeSH : D002609 DiseasesDB : 2351 External resources MedlinePlus : 001312 eMedicine : derm/704 Patient UK : Chédiak–Higashi syndrome GeneReviews : Chediak-Higashi Syndrome Orphanet : 167 v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency 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 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
-
Momo Syndrome
Gard
MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity , macrocephaly (having a large head size) and ocular (eye) abnormalities. ... MOMO syndrome is very rare, with only about a dozen reported cases in the scientific literature. The exact cause of MOMO syndrome is unknown. One report has identified that the LINC00237 gene may be the cause of MOMO syndrome. Both autosomal dominant and autosomal recessive inheritance patterns have been suggested. MOMO syndrome is diagnosed when a doctor observes signs consistent with the syndrome. Tests may be completed to rule out other genetic syndromes. Treatment for the syndrome depends on the exact features that each person has.
-
Rotor Syndrome
Wikipedia
Whereas rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia. [2] Contents 1 Signs and symptoms 2 Pathophysiology 2.1 Genetics 3 Diagnosis 4 Treatment 5 Eponym 6 See also 7 References 8 External links Signs and symptoms [ edit ] Rotor syndrome has many features in common with Dubin–Johnson syndrome , an exception being that the liver cells are not pigmented. ... Rotor syndrome is inherited in an autosomal recessive manner. [3] The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. [6] Mutations in both genes are required for the condition to occur. ... The buildup of this substance leads to jaundice in people with Rotor syndrome. [7] Diagnosis [ edit ] Increased conjugated hyperbilirubinemia is the hallmark for diagnosing Rotor syndrome. ... "Rotor's syndrome. A distinct inheritable pathophysiologic entity". ... External links [ edit ] Hyperbilirubinemia, Conjugated at eMedicine Rotor syndrome at NIH 's Office of Rare Diseases Mentioned in MedlinePlus Encyclopedia : Jaundice – yellow skin Classification D ICD - 10 : E80.6 ICD - 9-CM : 277.4 OMIM : 237450 MeSH : D006933 DiseasesDB : 11671 External resources Orphanet : 3111 v t e Heme metabolism disorders Porphyria , hepatic and erythropoietic ( porphyrin ) early mitochondrial: ALAD porphyria Acute intermittent porphyria cytoplasmic: Gunther disease/congenital erythropoietic porphyria Porphyria cutanea tarda / Hepatoerythropoietic porphyria late mitochondrial: Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria Hereditary hyperbilirubinemia ( bilirubin ) unconjugated: Gilbert's syndrome Crigler–Najjar syndrome Lucey–Driscoll syndrome conjugated: Dubin–Johnson syndrome nd sheet Rotor syndrome
-
Trisomy
Wikipedia
Autosomal trisomies are described by referencing the specific chromosome that has an extra copy. [ citation needed ] Thus, for example, the presence of an extra chromosome 21 , which is found in Down syndrome , is called trisomy 21. Human trisomy [ edit ] Karyotype of a human with Trisomy 21 (Down syndrome) Trisomies can occur with any chromosome , but often result in miscarriage, rather than live birth. ... The most common types of autosomal trisomy that survive to birth in humans are: Trisomy 21 ( Down syndrome ) Trisomy 18 ( Edwards syndrome ) Trisomy 13 ( Patau syndrome ) Trisomy 9 Trisomy 8 (Warkany syndrome 2) Trisomy Christopher (Bris variant) Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome . Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life expectancy. Trisomy of sex chromosomes can also occur and include: [4] XXX ( Triple X syndrome ) XXY ( Klinefelter syndrome ) XYY Compared to trisomy of the autosomal chromosomes, trisomy of the sex chromosomes normally has less severe consequences. ... External links [ edit ] Classification D ICD - 10 : Q90 - Q92 Q97 - Q98 MeSH : D014314 SNOMED CT : 78989007 External resources Orphanet : 3376 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
-
Michels Syndrome
Wikipedia
Michels syndrome Other names Oculopalatoskeletal syndrome This condition is inherited in an autosomal recessive manner [1] Specialty Medical genetics Michels syndrome is a syndrome characterised by intellectual disability , craniosynostosis , blepharophimosis , ptosis , epicanthus inversus , [2] [3] highly arched eyebrows , and hypertelorism . [3] [4] People with Michels syndrome vary in other symptoms such as asymmetry of the skull , eyelid , and anterior chamber anomalies, cleft lip and palate , umbilical anomalies , and growth and cognitive development . [3] [4] See also [ edit ] Malpuech facial clefting syndrome , another condition in the 3MC spectrum References [ edit ] ^ "OMIM Entry - # 257920 - 3MC SYNDROME 1; 3MC1" . omim.org . ... "Craniosynostosis and lid anomalies: report of a girl with Michels syndrome". Am. J. Med. Genet . 37 (1): 28–30. doi : 10.1002/ajmg.1320370108 . PMID 2240039 . ^ a b c Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A (September 2005). "Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?" ... "Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?". Am. J. Med.
-
Muir–torre Syndrome
Wikipedia
Muir–Torre syndrome Other names MTS Micrograph of a sebaceous adenoma , as may be seen in Muir–Torre syndrome. ... Specialty Oncology , dermatology , medical genetics Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome [1] : 663 that is thought to be a subtype of HNPCC . ... A variety of other internal malignancies have been reported. [5] Cause [ edit ] Genetic overlap with Turcot syndrome [ edit ] A couple studies have been conducted on patients with both Muir–Torre syndrome and Turcot syndrome . ... PMID 16321766 . ^ South CD, Hampel H, Comeas I, Westman JA, Frankel WL, Chapelle A (February 2008). "The Frequency of Muir–Torre Syndrome Among Lynch Syndrome Families" . ... PMID 5684233 . ^ Lynch HT, Fussaro RM, Roberts L; et al. (1985). "Muir–Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome".
-
2q37 Monosomy
Wikipedia
2q37 monosomy Deleted Region in Chromosome 2 Specialty Medical genetics 2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2 . [1] [2] Contents 1 Signs and symptoms 2 Genetics 3 See also 4 References 5 External links Signs and symptoms [ edit ] Almost all people with this syndrome have some degree of mental retardation and facial dysmorphism (round face, deep-set eyes, thin upper lip). ... Genetics [ edit ] The minimal deletion causing this syndrome has been defined as a 3 megabase region that contains the genes GPR35 , GPC1 and STK25 . ... See also [ edit ] 2q37 deletion syndrome References [ edit ] ^ a b c Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC (2004). ... External links [ edit ] Classification D OMIM : 600430 MeSH : C538317 DECIPHER database entry for 2q37 monosomy Genetics home reference for 2q37 deletion syndrome v t e Mutation Mechanisms of mutation Insertion Deletion Substitution Transversion Transition Mutation with respect to structure Point mutation Nonsense mutation Missense mutation Conservative mutation Silent mutation Frameshift mutation Dynamic mutation Large-scale mutation Chromosomal translocations Chromosomal inversions Mutation with respect to overall fitness Deleterious mutation Advantageous mutation Neutral mutation Nearly neutral mutation Synonymous mutation Nonsynonymous mutation v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
-
Simpson–golabi–behmel Syndrome
Wikipedia
X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities Simpson–Golabi–Behmel syndrome Other names Sara Agers syndrome , Golabi–Rosen syndrome , Simpson dysmorphia syndrome ( SDYS ) or X-linked dysplasia gigantism syndrome ( DGSX ) [1] Simpson–Golabi–Behmel syndrome has an X-linked recessive pattern of inheritance. ... Treatment of the symptoms and management of the syndrome, however, is possible. [ citation needed ] Depending on the manifestation, surgery, increased intake of glucose, special education, occupational therapy, speech therapy, and physical therapy are some methods of managing the syndrome and associated symptoms. [10] Research [ edit ] SGBS is similar to another overgrowth syndrome called Beckwith–Wiedemann syndrome . ... "Report of another family with Simpson–Golabi–Behmel syndrome and a review of the literature". ... "Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome" . ... External links [ edit ] Simpson–Golabi–Behmel syndrome at NIH 's Office of Rare Diseases GeneReview/NCBI/NIH/UW entry on Simpson–Golabi–Behmel Syndrome Classification D ICD - 10 : Q87.3 ICD - 9-CM : 759.89 OMIM : 312870 MeSH : C537340 C537340, C537340 DiseasesDB : 32640 External resources Orphanet : 373 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
-
Ring Chromosome 20 Syndrome
Wikipedia
Ring Chromosome 20 syndrome is thought to be an underdiagnosed condition. ... This supernumerary ring 20 can cause multiple anomalies but no epilepsy, and this resulting syndrome should be differentiated from ring chromosome 20 syndrome. ... A similar association between a ring chromosome and an autosomal-dominant disease has been reported for ring 17 chromosome and Miller-Dieker syndrome. The recurrence risk for ring chromosome 20 syndrome is very low. ... There are no published reports on the use of the ketogenic diet in patients with ring chromosome 20 syndrome. However, its efficacy and safety are well established in other difficult to control epilepsy syndromes. ... Prognosis [ edit ] Limited data is available for the long-term prognosis of ring chromosome 20 syndrome since only over 60 patients with this syndrome have been reported in published literature.
-
Miller–dieker Syndrome
Wikipedia
Miller–Dieker syndrome Other names Miller–Dieker lissencephaly syndrome Miller–Dieker syndrome is inherited in an autosomal dominant manner Specialty Medical genetics Miller–Dieker syndrome , Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome [1] is a micro deletion syndrome characterized by congenital malformations . ... There may be unbalanced translocations (i.e. 17q:17p or 12q:17p), or the presence of a ring chromosome 17. This syndrome should not be confused with Miller syndrome , an unrelated rare genetic disorder, or Miller Fisher syndrome, a form of Guillain–Barré syndrome . ... The syndrome shares distinct external features ( phenotype ) similar to more common syndromes. ... H.; ZuRhein, G. et al. The lissencephaly syndrome. In: Bergsma, D. : The Clinical Delineation of Birth Defects: Malformation Syndromes. ... External links [ edit ] Miller–Dieker NIH Miller-Dieker syndrome NIH Classification D ICD - 9-CM : 758.33 OMIM : 247200 MeSH : D054221 DiseasesDB : 29494 External resources Orphanet : 531 Scholia : Q2200977 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22PAFAH1B1, YWHAE, HIC1, MNT, FANCB, DCX, FANCF, FANCD2, UBE2T, SBDS, PALB2, ERCC4, CTC1, FANCA, FANCC, FANCM, BRIP1, MAD2L2, BLM, SLX4, FANCE, FANCL, FANCG, XRCC2, RAD51, RAD51C, BRCA2, BRCA1, FANCI, DPH1, TP53, SGCE, RUNX1, EPO, FLT3, SF3B1, CD34, KMT2A, BCR, RPS14, RN7SL263P, MECP2, JAK2, CSF3, BCL2L10, PLCB1, DDX41, GFI1, NPM1, U2AF1, PIGA, DAPK1, ASXL1, CDKN1C, CCR7, CDKN2B, DERL1, LINC01194, MECOM, CSF2, IKBKG, CCL28, MSC, CDR3, ABCG2, ESPL1, SGCZ, PDIK1L, YY1, CTAG1A, COL6A4P1, MIR21, WT1, WNT1, UBE3A, PSC, U2AF1L5, H3P9, TLR2, TK2, THBS1, STUB1, MRPL28, CIB1, ATG7, QRSL1, SYT1, LSM2, TET2, PRDM16, PLCE1, GORASP1, NXT1, WNK1, DLL1, DNAI1, INTS1, SETBP1, PIGN, PRAME, BAALC, TBC1D9, PARK7, CHEK2, NDEL1, SUB1, SEPTIN9, SLC12A9, TCF4, ABL1, STAT3, HLTF, DCK, TOR1A, EZH2, FGF1, FLT1, GATA2, GEM, GSTM1, GSTT1, GZMB, HFE, HIF1A, HOXD13, HRAS, HSPA9, CYP2B6, CUX1, CTNNB1, CD14, APAF1, ATM, CCND1, BCL2, CAMP, CBL, CD33, CTAG1B, CD38, CDKN1A, CDKN1B, CDKN2A, CD52, CRK, HTC2, IL2, IL2RA, PTEN, ABCB1, ABR, PLCG1, PLK1, MAPK8, PSMB6, RAP1GAP, NRAS, RARA, RELA, ROBO2, SCN4A, SCT, SRSF2, NUP98, NCAM1, CXCL8, MCL1, CXCR2, IRF1, ISG20, ITGB4, KIR3DL1, KRAS, MLF1, NBN, MMP1, MMP9, CD200, MPV17, MT1E, MVD, H3P10
-
Aromatase Excess Syndrome
Wikipedia
Aromatase excess syndrome Other names Hereditary prepubertal gynecomastia AEXS results when the function of aromatase is hyperactive. ... Specialty Endocrinology Aromatase excess syndrome ( AES or AEXS ) is a rare genetic and endocrine syndrome which is characterized by an overexpression of aromatase , the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens , in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism . ... "Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis" . ... S2CID 24766974 . ^ a b Eshraghian, Ahad; Loeys, Bart (2012). "Loeys-Dietz syndrome: A possible solution for Akhenaten's and his family's mystery syndrome" . ... External links [ edit ] Classification D ICD - 11 : 5A92 ICD - 10 : E30.1 OMIM : 139300 MeSH : C537436 External resources Orphanet : 178345 v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) v t e Inborn errors of steroid metabolism Mevalonate pathway HMG-CoA lyase deficiency Hyper-IgD syndrome Mevalonate kinase deficiency To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia CHILD syndrome Conradi-Hünermann syndrome Lathosterolosis Smith–Lemli–Opitz syndrome desmosterol path: Desmosterolosis Steroids Corticosteroid (including CAH ) aldosterone : Glucocorticoid remediable aldosteronism cortisol / cortisone : CAH 17α-hydroxylase CAH 11β-hydroxylase both: CAH 3β-dehydrogenase CAH 21-hydroxylase Apparent mineralocorticoid excess syndrome/11β-dehydrogenase Sex steroid To androgens 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b 5 deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase deficiency Pseudovaginal perineoscrotal hypospadias To estrogens Aromatase deficiency Aromatase excess syndrome Other X-linked ichthyosis Antley–Bixler syndrome
-
Ganser Syndrome
Wikipedia
Ganser Syndrome Specialty Psychiatry Ganser syndrome is a rare dissociative disorder characterized by nonsensical or wrong answers to questions and other dissociative symptoms such as fugue , amnesia or conversion disorder , often with visual pseudohallucinations and a decreased state of consciousness . [1] The syndrome has also been called nonsense syndrome , balderdash syndrome , syndrome of approximate answers , hysterical pseudodementia or prison psychosis . ... Whitlock, Ganser syndrome is a hysterical disorder, on par with Ganser's description of the disorder. [1] Whitlock pointed to the number of cases in which Ganser syndrome was reported in settings of organic brain disease or functional psychosis as evidence of its hysterical foundations. [1] Kraepelin and Bumke also believed the syndrome to be of a hysterical nature. [3] Bumke thought the syndrome hysterical because amnesia for a traumatic emotional event tends to occur in hysteria more than in other disorders. [3] The giving of approximate answers is thought to be produced in hysterical personalities. [3] According to Mayer-Gross and Bleuler, Ganser syndrome occurs mainly in epileptic or schizophrenic patients. [3] Still others claim that an organic condition that could lead to the manifestation of Ganser syndrome symptoms would have to be at an advanced stage in which a diagnosis could be easily given. [10] There have also been reports of trauma and stroke patients with the syndrome. ... The Ganser Syndrome: A Review and Addition of Some Unusual Cases. ... A Case of Ganser Syndrome: Organic or Hysterical?. General Hospital Psychiatry, 23(4), 230-231. ... Ganser Syndrome Followed by Major Depressive Episode.
-
Donnai–barrow Syndrome
Wikipedia
Donnai–Barrow syndrome Donnai–Barrow syndrome is inherited in an autosomal recessive manner. ... Occasionally people with Donnai–Barrow syndrome have abnormalities of the intestine, heart, or other organs and scoliosis. [3] [4] Causes [ edit ] Mutations in the LRP2 gene cause Donnai–Barrow syndrome. ... FOAR syndrome is now considered to be the same disorder as Donnai–Barrow syndrome. [3] [4] Inherited mutation [ edit ] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. ... PMID 17632512 . ^ a b c d e f g "Donnai-Barrow syndrome" (online) . Condition summary of this genetic disorder . ... External links [ edit ] Classification D OMIM : 222448 MeSH : C536390 C536390, C536390 External resources Orphanet : 2143 v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors
-
Flynn–aird Syndrome
Wikipedia
Flynn–Aird syndrome Flynn–Aird syndrome has an autosomal dominant pattern of inheritance . ... The syndrome involves defects in the nervous, auditory, skeletal, visual, and endocrine systems and encompasses numerous symptoms, bearing striking similarity to other known syndromes of neuroectodermal nature such as: Werner syndrome , Cockayne syndrome and Refsum syndrome . [1] The onset of Flynn–Aird syndrome typically occurs between ten and twenty years of age, however, the earliest case was diagnosed at age seven. ... Unlike related syndromes and despite the intensity of symptoms in the disease progression, Flynn–Aird syndrome does not appear to shorten life expectancy. ... A number of the symptoms overlapped with several known neurological diseases such as Werner syndrome, Refsum syndrome, and Cockayne syndrome, which could be indicative of similar causative origins. ... At this time there are no indication of further scientific investigation of Flynn–Aird syndrome. However, there is research on other, more common syndromes such as Werner syndrome, Cockayne syndrome and Refsum syndrome that may help better understand Flynn–Aird syndrome.
-
Cloves Syndrome
Wikipedia
CLOVES syndrome Other names Congenital Lipomatous Overgrowth-Vascular malformation-Epidermal nevi-spinal anomaly Syndrome, Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome Mutations affecting PI3kinase are involved in the cause of this condition CLOVES syndrome is an extremely rare overgrowth syndrome with complex vascular anomalies. ... CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome , Klippel–Trénaunay syndrome , Sturge–Weber syndrome , and hemihypertrophy , to name a few. ... High-flow aggressive spinal lesions (like AVM) can cause serious neurological deficits/paralysis. The syndrome was first recognised by Saap and colleagues who recognised the spectrum of symptoms from a set of seven patients. [3] In this initial description the syndrome is named CLOVE syndrome. ... Mutations in other parts of this pathway cause other overgrowth syndromes including Proteus syndrome and hemimegaencephaly . [6] References [ edit ] ^ "CLOVES Syndrome" . clovessyndrome.org . ^ Boston Childrens Hospital 2013. ... "Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients".
-
Barth Syndrome
Wikipedia
Barth Syndrome Other names 3-Methylglutaconic aciduria type II, Cardiolipin Specialty Endocrinology Barth syndrome ( BTHS ) is an X-linked [1] genetic disorder . ... PMID 20812380 . ^ a b Kelley RI, [cited 6 Dec 2011]. “Barth Syndrome - X-linked Cardiomyopathy and Neutropenia”. ... CS1 maint: archived copy as title ( link ) ^ Barth Syndrome Foundation, 28 Jun 2011. “Diagnosis of Barth Syndrome”. Available from: "Barth Syndrome Foundation : Home" . Archived from the original on 2012-04-26 . ... PMID 22410210 . External links [ edit ] Barth Syndrome at NINDS Classification D ICD - 10 : E78 ICD - 10-CM : E78.71 ICD - 9-CM : 759.89 OMIM : 302060 MeSH : D056889 DiseasesDB : 29297 SNOMED CT : 297231002 External resources MedlinePlus : and Symptoms of Barth Syndrome.htm Signs and Symptoms of Barth Syndrome GeneReviews : Barth Syndrome Orphanet : 111 v t e Inborn error of lipid metabolism : Phospholipid metabolism disorders Tafazzin 3-Methylglutaconic aciduria 2 ( Barth syndrome ) CMD3A Other Paroxysmal nocturnal hemoglobinuria Hyperphosphatasia with mental retardation syndrome 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