A rare congenital form of PRCA, called Diamond Blackfan syndrome , is an inherited condition that is also associated with other physical abnormalities.
Erythroblastopenia (a decrease of red blood cells in a complete blood count ) may refer to: Acquired pure red cell aplasia Transient erythroblastopenia of childhood See also [ edit ] Polycythemia Anemia Disambiguation page providing links to topics that could be referred to by the same search term This disambiguation page lists articles associated with the title Erythroblastopenia . If an internal link led you here, you may wish to change the link to point directly to the intended article.
While the abnormal growth occurs within the uterus , it has not been substantiated that genetics are to blame. [ citation needed ] Congenital abnormalities of the mesonephric duct in males can lead to the formation of a ureterocele, which often coincide with ipsilateral agenesis of the kidney (atrophic kidney) and seminal vesicle cysts, this is known as Zinner Syndrome. [1] Diagnosis [ edit ] IVU-shows Adder head appearance or Cobra head appearance. ... References [ edit ] ^ Ghonge NP, Aggarwal B, Sahu AK (July 2010). "Zinner syndrome: A unique triad of mesonephric duct abnormalities as an unusual cause of urinary symptoms in late adolescence" . ... (in German) External links [ edit ] Classification D ICD - 10 : N28.8 ICD - 9-CM : 593.89 , 753.23 MeSH : D014518 DiseasesDB : 33455 SNOMED CT : 12818004 External resources MedlinePlus : 000462 eMedicine : radio/729 v t e Diseases of the urinary tract Ureter Ureteritis Ureterocele Megaureter Bladder Cystitis Interstitial cystitis Hunner's ulcer Trigonitis Hemorrhagic cystitis Neurogenic bladder dysfunction Bladder sphincter dyssynergia Vesicointestinal fistula Vesicoureteral reflux Urethra Urethritis Non-gonococcal urethritis Urethral syndrome Urethral stricture Meatal stenosis Urethral caruncle Any/all Obstructive uropathy Urinary tract infection Retroperitoneal fibrosis Urolithiasis Bladder stone Kidney stone Renal colic Malakoplakia Urinary incontinence Stress Urge Overflow
Ureterocele is a cystic dilatation of the intravesical portion of the bladder. Its occurrence was reported in dizygotic twins by Ayalon et al. (1979) and in monozygotic twins by Riba (1936). Abrams et al. (1980) observed the malformation in teenage brothers. In the family reported by Ayalon et al. (1979) the parents were first cousins and the father as well as a sister had double collecting systems on intravenous pyelography. DeWeerd and Feeney (1967) reported affected mother and daughter. GU - Ureterocele Radiology - Double urinary collecting systems on intravenous pyelography Inheritance - Autosomal dominant ▲ Close
Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.
Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. ... When melanoma occurs as part of a genetic syndrome, the risk of melanoma follows the inheritance pattern of the syndrome.
A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-6 (CMM6) is conferred by variation in the XRCC3 gene (600675) on chromosome 14q32. Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see 155600. Molecular Genetics Exposure to UV radiation is a major risk factor for the development of malignant melanoma. DNA damage caused by UV radiation is thought to play a major role in carcinogenesis.
A number sign (#) is used with this entry because mutation in the gene encoding cyclin-dependent kinase-4 (CDK4; 123829) increases susceptibility to this form of cutaneous malignant melanoma (CMM3). Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. Molecular Genetics In a human cutaneous malignant melanoma cell line, Wolfel et al. (1995) identified a mutation in the CDK4 gene (R24C; 123829.0001). The same mutation was found in 1 additional melanoma among 28 melanomas analyzed.
Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see 155600. Mapping It is estimated that 10% of CMM cases have an inherited predisposition. Although mutations in 2 genes, CDKN2A (600160) and CDK4 (123829), confer an increased risk of CMM, they account for only 20 to 25% of families with multiple cases of CMM. To localize additional loci involved in CMM susceptibility, Gillanders et al. (2003) performed a genomewide scan for linkage in 49 Australian pedigrees containing at least 3 CMM cases in which CDKN2A and CDK4 involvement had been excluded.
A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-5 (CMM5) is conferred by variation in the gene encoding melanocortin-1 receptor (MC1R; 155555) on chromosome 16q24. Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. Mapping Bishop et al. (2009) reported a genomewide association study of melanoma conducted in the GenoMEL consortium based on 317,000 tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional 2 cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genomewide screen identified 5 loci with genotypes or imputed SNPs reaching P less than 5 x 10(-7).
A number sign (#) is used with this entry because of evidence that susceptibility to cutaneous malignant melanoma-9 (CMM9) is conferred by variation in the TERT gene (187270) on chromosome 5p15. Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. Clinical Features Horn et al. (2013) reported a 4-generation family with 14 melanoma patients who were not carriers of germline mutations in the melanoma susceptibility genes CDKN2A (600160) or CDK4 (123829). Two family members had additional forms of cancer. One individual, who developed melanoma at the age of 20, later developed ovarian cancer, renal cell carcinoma, bladder cancer, mammary carcinoma, and finally bronchial carcinoma, leading to her death at age 50.
A number sign (#) is used with this entry because susceptibility to cutaneous malignant melanoma-10 (CMM10) is conferred by heterozygous mutation in the POT1 gene (606478) on chromosome 7q31. Mutation in the POT1 gene can also caused glioma susceptibility-9 (GLM9; 616568). For a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see 155600. Clinical Features Robles-Espinoza et al. (2014) reported 4 unrelated families in which at least 2 members developed cutaneous malignant melanoma. Two patients developed non-melanoma cancers, and several family members had a history of non-melanoma cancers, suggesting increased susceptibility to a range of cancers.
Bowen et al. (1964) reported malignant intraocular melanoma in a 45-year-old white female and her 26-year-old daughter. Davenport (1927) reported this malignancy in 3 successive generations. The occurrence of cutaneous melanoma and intraocular melanoma as double primary cancers in the same patient and in different members of the same family has suggested that these 2 forms of melanoma may be etiologically related. From their family studies, Greene et al. (1983) concluded that these associations may be coincidental. Eyes - Malignant intraocular melanoma Inheritance - Autosomal dominant ▲ Close
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. Epidemiology FM is thought to account for about 10% of all cases of cutaneous melanoma. Melanoma primarily affects populations of European origin. Incidence is higher in geographical regions with greater sun exposure (southern USA, Australia, New Zealand). Incidence was estimated at 1/90,000 in Europe in 2012. Clinical description Familial melanoma tends to occur earlier than non-familial melanoma. The average age of onset is often between 30 and 40 years, while non-familial melanoma typically occurs in the general population between 50 and 60.
A number sign (#) is used with this entry because heterozygous mutation in the p16 gene (CDKN2A; 600160) on chromosome 9p21 increases susceptibility to one form of cutaneous malignant melanoma (CMM2). Description Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). Inheritance Bergman et al. (1986) studied extensively affected kindreds in an ancient fishing village in the neighborhood of Leiden, the Netherlands. Autosomal dominant inheritance of dysplastic nevi was confirmed. In 6 pedigrees, 33 patients with melanoma occurred.
External links [ edit ] Classification D ICD - 10 : M31.7 ICD - 9-CM : 446.0 MeSH : D055953 DiseasesDB : 8193 External resources eMedicine : med/2931 v t e Systemic vasculitis Large vessel Takayasu's arteritis Giant cell arteritis Medium vessel Polyarteritis nodosa Kawasaki disease Thromboangiitis obliterans Small vessel Pauci-immune c-ANCA Granulomatosis with polyangiitis p-ANCA Eosinophilic granulomatosis with polyangiitis Microscopic polyangiitis Type III hypersensitivity Cutaneous small-vessel vasculitis IgA vasculitis Ungrouped Acute hemorrhagic edema of infancy Cryoglobulinemic vasculitis Bullous small vessel vasculitis Cutaneous small-vessel vasculitis Other Goodpasture syndrome Sneddon's syndrome v t e Disease of the kidney glomerules Primarily nephrotic Non-proliferative Minimal change Focal segmental Membranous Proliferative Mesangial proliferative Endocapillary proliferative Membranoproliferative/mesangiocapillary By condition Diabetic Amyloidosis Primarily nephritic , RPG Type I RPG / Type II hypersensitivity Goodpasture syndrome Type II RPG / Type III hypersensitivity Post-streptococcal Lupus diffuse proliferative IgA Type III RPG / Pauci-immune Granulomatosis with polyangiitis Microscopic polyangiitis Eosinophilic granulomatosis with polyangiitis General glomerulonephritis glomerulonephrosis
Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation ( vasculitis ), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this disorder is unknown.
The most severe manifestation is combined pulmonary and renal disease (pulmonary-renal syndrome). Gastro-intestinal involvement can present with abdominal pain, nausea, or vomiting, and can be life-threatening in case of peritonitis, ischemia or perforation.
The tumor is distinct from the conjunctival lipodermoid of the Goldenhar syndrome (164210). Eyes - Conjunctival lipoma Inheritance - Autosomal dominant ▲ Close
A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn.
A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present.
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth).
Clinical Features In Brazil, Pinheiro and Freire-Maia (1983) studied a Caucasian family with 11 persons (7 women, 4 men) in 4 generations with a mild and variable ectodermal dysplasia manifested by skin, tooth, and nail abnormalities, except for the proband who had a more severe clinical picture including trichodysplasia. Pinheiro and Freire-Maia (1983) compared this disorder with many other similar conditions and concluded that it is a distinct entity. Pinheiro et al. (1990) described 2 sisters and a brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. The father and several relatives on his side had minor dental anomalies. Inheritance Male-to-male transmission and an 11 unaffected:10 affected segregation ratio in the family reported by Pinheiro and Freire-Maia (1983) supported autosomal dominant inheritance.
Dermoodontodysplasia is dental problems, trichodysplasia , and nail and skin problems. [1] References [ edit ] ^ Pinheiro M, Gomes-de-Sá-Filho FP, Freire-Maia N (June 1990). "New cases of dermoodontodysplasia?". Am. J. Med. Genet . 36 (2): 161–6. doi : 10.1002/ajmg.1320360207 . PMID 2368802 .
Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.
Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels.
A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
Mutation in the PRKAG2 gene also causes the Wolff-Parkinson-White preexcitation syndrome (194200) in isolation or in association with cardiac hypertrophy. ... Mapping In a large family with 25 surviving individuals affected by familial hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome (WPW; 194200), or both, MacRae et al. (1995) found close linkage to DNA markers on chromosome 7q3. ... Blair et al. (2001) identified heterozygous mutations in the PRKAG2 gene in 2 families with severe hypertrophic cardiomyopathy associated with conduction and electrocardiographic abnormalities, including WPW ventricular preexcitation syndrome in 3 individuals. Both mutations, 1 missense (H142R; 602743.0002) and 1 in-frame single codon insertion (602743.0003), occur in highly conserved regions. ... In addition to cardiac hypertrophy, individuals with PRKAG2 mutations frequently manifest electrophysiologic abnormalities, particularly Wolff-Parkinson-White syndrome (Gollob et al., 2001), atrial fibrillation, and progressive development of atrioventricular conduction block. ... Electrophysiologic testing demonstrated alternative atrioventricular conduction pathways consistent with Wolff-Parkinson-White syndrome. Cardiac histopathology revealed that the annulus fibrosis, which normally insulates the ventricles from inappropriate excitation by the atria, was disrupted by glycogen-filled myocytes.