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Cold-Induced Sweating Syndrome Including Crisponi Syndrome
Gene_reviews
Genetic counseling. Cold-induced sweating syndrome (CISS) and its infantile version, Crisponi syndrome, are inherited in an autosomal recessive manner. ... Clinical Characteristics Clinical Description Cold-induced sweating syndrome (CISS) can present to the clinician in infancy as Crisponi syndrome, or from age three years onward as cold-induced sweating [Sohar et al 1978, Hahn et al 2006, Crisponi et al 2007, Hahn et al 2010]. ... Thus, CISS and Crisponi syndrome are not “allelic disorders” [Crisponi et al 2007], but rather Crisponi syndrome is the infantile presentation of CISS [Hahn et al 2010]. ... The intermittent facial muscle contraction and puckering of the lips of young children with Crisponi syndrome may bear some resemblance to distal arthrogryposis type DA2A (Freeman-Sheldon syndrome; OMIM 193700), caused by pathogenic variants in MYH3 and to distal arthrogryposis type DA2B (Sheldon-Hall syndrome; OMIM 601680), also caused by pathogenic variants in MYH3 in some individuals. ... Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with cold-induced sweating syndrome (CISS/Crisponi syndrome), the following evaluations are recommended: Brain MRI.
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Mastocytosis
Wikipedia
Either one major + one minor criterium or 3 minor criteria has to be fulfilled: [9] Major criterion [ edit ] Dense infiltrates of >15 mast cells in the bone marrow or an extracutaneous organ Minor criteria [ edit ] Aberrant phenotype on the mast cells (pos. for CD2 and/or CD25) Aberrant mast cell morphology (spindle-shaped) Finding of mutation in KIT(D816V) S-tryptase >20 ng/ml Other mast cell diseases [ edit ] Other types of mast cell disease include: Monoclonal mast cell activation, defined by the World Health Organization definitions 2010, also has increased mast cells but insufficient to be systemic mastocytosis (in World Health Organization Definitions) Mast cell activation syndrome – has normal number of mast cells, but all the symptoms and in some cases the genetic markers of systemic mastocytosis [10] Another known but rare mast cell proliferation disease is mast cell sarcoma . [11] Classification [ edit ] Mastocytosis can occur in a variety of forms: Cutaneous mastocytosis (CM) [ edit ] The most common cutaneous mastocytosis is maculopapular cutaneous mastocytosis, previously named papular urticaria pigmentosa (UP), more common in children, although also seen in adults. ... PMID 24044484 . ^ Rogers, M P; Bloomingdale, K; Murawski, B J; Soter, N A; Reich, P; Austen, K F (July 1986). "Mixed organic brain syndrome as a manifestation of systemic mastocytosis". ... Classification D ICD - 10 : Q82.2 , C96.2 ICD - 9-CM : 757.33 , 202.6 ICD-O : 9741/3 OMIM : 154800 MeSH : D008415 DiseasesDB : 7864 External resources eMedicine : derm/258 med/1401 Orphanet : 98292 v t e Myeloid -related hematological malignancy CFU-GM / and other granulocytes CFU-GM Myelocyte AML : Acute myeloblastic leukemia M0 M1 M2 APL/M3 MP Chronic neutrophilic leukemia Monocyte AML AMoL/M5 Myeloid dendritic cell leukemia CML Philadelphia chromosome Accelerated phase chronic myelogenous leukemia Myelomonocyte AML M4 MD-MP Juvenile myelomonocytic leukemia Chronic myelomonocytic leukemia Other Histiocytosis CFU-Baso AML Acute basophilic CFU-Eos AML Acute eosinophilic MP Chronic eosinophilic leukemia / Hypereosinophilic syndrome MEP CFU-Meg MP Essential thrombocytosis Acute megakaryoblastic leukemia CFU-E AML Erythroleukemia/M6 MP Polycythemia vera MD Refractory anemia Refractory anemia with excess of blasts Chromosome 5q deletion syndrome Sideroblastic anemia Paroxysmal nocturnal hemoglobinuria Refractory cytopenia with multilineage dysplasia CFU-Mast Mastocytoma Mast cell leukemia Mast cell sarcoma Systemic mastocytosis Mastocytosis : Diffuse cutaneous mastocytosis Erythrodermic mastocytosis Adult type of generalized eruption of cutaneous mastocytosis Urticaria pigmentosa Mast cell sarcoma Solitary mastocytoma Systemic mastocytosis Xanthelasmoidal mastocytosis Multiple/unknown AML Acute panmyelosis with myelofibrosis Myeloid sarcoma MP Myelofibrosis Acute biphenotypic leukaemia v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation BirthmarkKIT, FOXF1, TET2, SRSF2, ASXL1, NTRK1, CD34, PDGFRA, IL2RA, TNFRSF8, ISG20, STAT5B, STAT5A, IL6, IL9, CD274, FIP1L1, TPSAB1, IL31, JAK2, TPSD1, NGF, IGHE, TPM3, TLR2, RASGRP4, TLR4, TAC1, TACR1, STAT3, SST, SOAT1, SNCA, SLC16A1, TPT1, TPSB2, UBE2N, SF3B1, SLAMF8, MCPH1, TLR9, ZMYND10, CPA4, MCAT, IL37, IL33, VIP, CCL26, IKZF1, CCL2, TNFRSF10A, TNFSF10, KIDINS220, TRPV1, SPATA2, ABL1, RPL17, RUNX2, HBM, FGFR1, CPA3, CD72, CD44, TNFSF8, RUNX1T1, RUNX1, CASP3, PTPN11, CEACAM1, BDNF, BCR, BCL2L1, BCL2, RERE, AR, ALK, HSPG2, IDH2, IL4, IL4R, SERPINB6, ENPP3, PDGFRB, ABL2, PDCD1, NRAS, NPM1, MPL, MITF, KITLG, KRT14, KRAS, KIR2DL4, ITGAV, ITGA5, IL13, IL6R, RPL17-C18orf32
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Spondyloepimetaphyseal Dysplasia-Abnormal Dentition Syndrome
Orphanet
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement.
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Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Orphanet
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit.
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Mixed Autoinflammatory And Autoimmune Syndrome
Orphanet
Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincially with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.
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Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Orphanet
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate.
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Choroidal Atrophy-Alopecia Syndrome
Orphanet
Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
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Nevada Syndrome
Orphanet
NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.
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Ring Chromosome 22 Syndrome
Orphanet
Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.
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Distal Xq28 Microduplication Syndrome
Orphanet
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males.
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Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Orphanet
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.
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External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Orphanet
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.
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Deafness-Ear Malformation-Facial Palsy Syndrome
Orphanet
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis.
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Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Orphanet
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment.
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X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Orphanet
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
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Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Orphanet
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia.
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Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Orphanet
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis.
- Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome Orphanet
- Optic Nerve Edema-Splenomegaly Syndrome Orphanet
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Hypokalemic Periodic Paralysis
Wikipedia
Because of this, the severity would be reduced if potassium ion concentrations are kept high. [5] [6] [7] Mutations in KCNJ2 lead to hypokalemic periodic paralysis with cardiac arrhythmias called Andersen–Tawil syndrome . [ citation needed ] In contrast, hyperkalemic periodic paralysis refers to gain-of-function mutations in sodium channels that maintain muscle depolarisation and therefore are aggravated by high potassium ion concentrations. [ citation needed ] This condition is inherited in an autosomal dominant pattern (but with a high proportion of sporadic cases), which means one copy of the altered gene in each cell is sufficient to cause the disorder. ... External links [ edit ] GeneReview/NIH/UW entry on Hypokalemic Periodic Paralysis Classification D ICD - 10 : G72.3 ICD - 9-CM : 359.3 OMIM : 170400 613345 MeSH : D020514 DiseasesDB : 6465 External resources MedlinePlus : 000312 GeneReviews : Hypokalemic Periodic Paralysis Orphanet : 681 v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels