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Deafness, Autosomal Dominant 15
Omim
The age at onset ranged from the early teens to late fifties, and no patients had additional syndromic features. Pure tone audiograms showed bilateral minimal to moderate sensorineural hearing loss with flat to gently downward-sloping audiograms.
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Acute Flaccid Myelitis (Afm)
Mayo_clinic
Acute flaccid myelitis can be hard to diagnose because it shares many of the same symptoms as other neurological diseases, such as Guillain-Barre syndrome. These tests can help distinguish acute flaccid myelitis from other conditions.
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Jellyfish Stings
Mayo_clinic
Risk factors Conditions that increase the risk of jellyfish stings: Swimming when jellyfish appear in large numbers (a jellyfish bloom) Swimming or diving in jellyfish areas without protective clothing Playing or sunbathing where jellyfish are washed up on the beach Swimming in a place known to have many jellyfish Complications Possible complications of a jellyfish sting include: Delayed skin reaction, causing blisters, rash or other irritation Irukandji syndrome, which causes chest and stomach pain, high blood pressure, and heart problems Prevention The following tips can help you avoid jellyfish stings: Wear a protective suit.
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Ringworm (Body)
Mayo_clinic
But people with weak immune systems, such as those with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), may find it difficult to get rid of the infection.
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Carcinosarcoma
Wikipedia
National Cancer Institute document: "Dictionary of Cancer Terms" . v t e Connective / soft tissue tumors and sarcomas Not otherwise specified Soft-tissue sarcoma Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma / fibrosarcoma : Dermatofibrosarcoma protuberans Desmoplastic fibroma Fibroma / fibromatosis : Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Histiocytoma / histiocytic sarcoma : Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor Myxomatous Myxoma / myxosarcoma Cutaneous myxoma Superficial acral fibromyxoma Angiomyxoma Ossifying fibromyxoid tumour Fibroepithelial Brenner tumour Fibroadenoma Phyllodes tumor Synovial -like Synovial sarcoma Clear-cell sarcoma Lipomatous Lipoma / liposarcoma Myelolipoma Myxoid liposarcoma PEComa Angiomyolipoma Chondroid lipoma Intradermal spindle cell lipoma Pleomorphic lipoma Lipoblastomatosis Spindle cell lipoma Hibernoma Myomatous general: Myoma / myosarcoma smooth muscle : Leiomyoma / leiomyosarcoma skeletal muscle : Rhabdomyoma / rhabdomyosarcoma : Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma Leiomyoma Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP Complex mixed and stromal Adenomyoma Pleomorphic adenoma Mixed Müllerian tumor Mesoblastic nephroma Wilms' tumor Malignant rhabdoid tumour Clear-cell sarcoma of the kidney Hepatoblastoma Pancreatoblastoma Carcinosarcoma Mesothelial Mesothelioma Adenomatoid tumorVIM, TGFB1, ZNF667-AS1, ERBB2, TP53, BRCA1, CDKN2A, H3P10, PIK3CA, BRAF, CD274, KRAS, KIT, EGFR, HMGA2, SYP, ZEB1, HTC2, ALK, MME, PDGFRA, MDM2, PTEN, PPP2R1A, DICER1, CLDN4, DCTN3, TGFBR1, LOC110806263, MIR200C, MIR184, S100A1, S100B, MIRLET7B, SMARCB1, SOX9, DCDC2, WT1-AS, NOX4, TOP1, HPS5, RACGAP1, CADM1, VEGFA, SMUG1, XRCC2, SATB2, PAX8, PHB2, CHP1, IFITM1, PTCH1, EMG1, TSHZ1, ACTB, PTPA, CLDN3, F2R, ESR1, EGF, ATN1, DYNC1H1, CTNNB1, CTAG1B, CDK4, FGFR2, VPS51, BRCA2, BCL2, CCND1, AR, ANGPT2, ANG, FBN1, GATA3, PPP1R1A, MLH1, PDCD1, PCNA, NME1, NCAM1, MYOG, MSH2, MMP2, MKI67, HMGA1, MET, MAGEA4, EPCAM, TACSTD2, IGF2, IGF1, FOXA2, NRAS
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Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Omim
The authors designated the disease to be a syndrome of 'ichthyotic keratoderma, spasticity, mild hypomyelination, and dysmorphic features (IKSHD).'
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Arthrogryposis, Distal, Type 2b2
Omim
Molecular Genetics Sung et al. (2003) sequenced the TNNT3 gene in 47 families with either classic Freeman-Sheldon syndrome (DA2A; 193700) or DA2B, and identified an arg63-to-his mutation (R63H; 600692.0001) in a woman with DA2B and her 2 affected daughters.
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Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Omim
Targeted sequencing of POLE in additional cases of primordial dwarfism yielded 5 more patients with biallelic mutations. Because a diagnosis of IMAGE syndrome (614732) had been considered in 2 of those patients and adrenal failure had been reported in another 3, the authors examined whole-genome sequencing data from patients diagnosed with IMAGE who were negative for mutation in the CDKN1C gene (600856), and identified 6 more individuals with compound heterozygous mutations in POLE, including the patients reported by Pedreira et al. (2004) and Tan et al. (2006).
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Mental Retardation, Autosomal Recessive 5
Omim
Martinez et al. (2012) noted phenotypic similarities to Dubowitz syndrome (223370). Inheritance The transmission pattern of the phenotype in the families reported by Abbasi-Moheb et al. (2012) and Khan et al. (2012) was consistent with autosomal recessive inheritance, as all families were consanguineous.
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Mental Retardation, Autosomal Dominant 39
Omim
The proportions with impaired intellectual development, gross motor delay, speech delay, autism, overweight/obesity, and hyperphagia among patients with MYT1L haploinsufficiency were similar to those in patients with the 2p25.3 deletion syndrome, suggesting that MTY1L haplosufficiency is responsible for the 2p25.3 deletion phenotype.
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Glaucoma 3, Primary Congenital, D
Omim
The genetically homogeneous group of R299X homozygotes displayed phenotypes varying from PCG with primary dysgenesis of the trabecular meshwork to Marfan syndrome (see 154700)-like zonular disease with ectopia lentis and later-onset secondary glaucoma.CYP1B1, MYOC, LTBP2, GLIS3, TEK, FOXC1, PITX2, ADAMTSL1, PAX6, OCRL, SH3PXD2B, FUT8, LARGE1, CHST3, RNASEH2A, SAMHD1, POMT1, TREX1, NCAPG2, B3GAT3, POMT2, AKT1, POMGNT1, IFIH1, FKRP, RNASEH2B, RNASEH2C, CANT1, ATOH7, TWIST1, ADAR, SRY, MAB21L1, FOXE3, FGFR2, GNAQ, FKTN, DAG1, FLNA, PTEN, PYCR1, PXDN, CYP2B6, GPATCH3, ARSD, ARHGAP1, AR, FOXC2, GDAP1, NUFIP2, GJA1, TYR, GLC3B, LGALS7, LTBP3, PLXNA2, VAV3, KMT2B, KMT2D, LGALS7B
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Diaphanospondylodysostosis
Omim
Gonzales et al. (2005) proposed to name this lethal autosomal recessive syndrome diaphanospondylodysostosis. Vatanavicharn et al. (2007) reported 6 additional patients from 4 families with diaphanospondylodysostosis.
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Xeroderma Pigmentosum, Variant Type
Omim
DNA polymerase eta (POLH; 603968) performs translesion synthesis past UV photoproducts and is deficient in cancer-prone XPV syndrome. The slight sensitivity of XPV cells to UV is dramatically enhanced by low concentrations of caffeine.
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Spinocerebellar Ataxia, X-Linked 1
Omim
The third family had a similar onset and disease course; 1 of the affected persons in this family was a female with the XO Turner syndrome, consistent with X-linked recessive inheritance.
- Methylmalonate Semialdehyde Dehydrogenase Deficiency Omim
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Pregnancy Loss, Recurrent, Susceptibility To, 1
Omim
Disorders of Coagulation Maternal hypercoagulability has been hypothesized to be a major causative factor in RPRGL (Allison and Schust, 2009). See, e.g., antiphospholipid syndrome (107320), which involves arterial and venous thrombosis and recurrent fetal loss, and activated protein C resistance (188055).
- Spastic Paraplegia 54, Autosomal Recessive Omim
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Metaphyseal Enchondromatosis With D-2-Hydroxyglutaric Aciduria
Omim
., Ollier disease (166000) and Maffucci syndrome (614569), somatic heterozygous mutations were found by Pansuriya et al. (2011) and Amary et al. (2011) in the IDH1 gene as well as in the IDH2 gene, including R132H in IDH1.
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Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Omim
She was diagnosed with restless legs syndrome and a nonspecific anxiety disorder.
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Neurodegeneration With Brain Iron Accumulation 6
Omim
At age 25, she had a severe spastic bradykinetic-rigid syndrome with mild dystonia, distal areflexia, and mild axonal neuropathy.