Carcinoma, and Increased bone mineral density

Diseases related with Carcinoma and Increased bone mineral density

In the following list you will find some of the most common rare diseases related to Carcinoma and Increased bone mineral density that can help you solving undiagnosed cases.


Top matches:

Low match HYPERPARATHYROIDISM 4; HRPT4


Related symptoms:

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about HYPERPARATHYROIDISM 4; HRPT4

Low match CONGENITAL ANALBUMINEMIA


Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

Related symptoms:

  • Neoplasm
  • Fatigue
  • Edema
  • Osteoporosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ANALBUMINEMIA

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

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Other less relevant matches:

Low match HYPERPARATHYROIDISM 1; HRPT1


Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

Low match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY


Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol biosynthesis. In about 95% of cases, 21-hydroxylation is impaired in the zona fasciculata of the adrenal cortex so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. Because of defective cortisol synthesis, ACTH levels increase, resulting in overproduction and accumulation of cortisol precursors, particularly 17-OHP, proximal to the block. This causes excessive production of androgens, resulting in virilization.Slominski et al. (1996) presented evidence that the CYP21A2, CYP11A1 (OMIM ), CYP17 (OMIM ), and ACTHR (OMIM ) genes are expressed in skin (see {202200}). The authors suggested that expression of these genes may play a role in skin physiology and pathology and that cutaneous proopiomelanocortin activity may be autoregulated by a feedback mechanism involving glucocorticoids synthesized locally.

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Is also known as cyp21 deficiency|21-hydroxylase deficiency|congenital adrenal hyperplasia 1|cah1|adrenal hyperplasia iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypertension
  • Fever
  • Obesity


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1


Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormality of the dentition
  • Thrombocytopenia
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Low match HYPERPARATHYROIDISM-JAW TUMOR SYNDROME


Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (OMIM ).

HYPERPARATHYROIDISM-JAW TUMOR SYNDROME Is also known as hyperparathyroidism-jaw tumor syndrome, hereditary|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hpt-jt

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match PARATHYROID CARCINOMA


Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.

PARATHYROID CARCINOMA Is also known as prtc

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Fatigue
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARATHYROID CARCINOMA

Low match TYROSINEMIA TYPE 1


Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

Top 5 symptoms//phenotypes associated to Carcinoma and Increased bone mineral density

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Osteoporosis Common - Between 50% and 80% cases
Osteopenia Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases
Nephrolithiasis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Increased bone mineral density. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypercalcemia Hyperparathyroidism Primary hyperparathyroidism Parathyroid carcinoma Pain Renal insufficiency Hypophosphatemia Peptic ulcer Vomiting Hypercalciuria Muscle weakness Lipoma Elevated circulating parathyroid hormone level Fatigue

Rare Symptoms - Less than 30% cases


Abnormality of the kidney Polycystic kidney dysplasia Poikiloderma Neoplasm of the endocrine system Parathyroid hyperplasia Intellectual disability Parathyroid adenoma Adrenocortical carcinoma Telangiectasia Sparse scalp hair Diarrhea Abnormality of the dentition Alopecia Short stature Cirrhosis Abnormality of skin pigmentation Hypoglycemia Abnormality of the parathyroid morphology Adrenal hyperplasia Renal hamartoma Obesity Breast carcinoma Edema Pancreatic adenocarcinoma Testicular neoplasm Fibroma Infantile hypercalcemia Thyroid carcinoma Chondrocalcinosis Episodic abdominal pain Uterine leiomyoma Hypertension Nephroblastoma Polydipsia Pancreatitis Constipation Shortened QT interval Bone pain Renal cyst Nausea and vomiting Striae distensae Mandibular pain Dysphagia Headache Eczema Erythema Hypopigmentation of the skin Abnormal blistering of the skin Skin rash Leukemia Cutaneous photosensitivity Sparse hair Overgrowth Postnatal growth retardation Hurthle cell thyroid adenoma Hyperkeratosis Hypogonadism Hyperhidrosis Prominent forehead Frontal bossing Visual impairment Feeding difficulties Cataract Growth delay Ossifying fibroma of the jaw Ossifying fibroma Renal cortical adenoma Recurrent pancreatitis Melanoma Polyuria Erythroderma Hypophosphatemic rickets Aciduria Peripheral demyelination Glomerulosclerosis Rickets Abnormality of coagulation Axonal degeneration Hepatocellular carcinoma Enlarged kidney Self-mutilation Renal tubular dysfunction Acute hepatic failure Neoplasm of the liver Ileus Abnormal bleeding Periodic paralysis Generalized aminoaciduria Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Hypertyrosinemia Renal Fanconi syndrome Elevated alpha-fetoprotein Hypermethioninemia Hepatic necrosis Elevated urinary delta-aminolevulinic acid Paralytic ileus Rickets of the lower limbs Gastrointestinal hemorrhage Ascites Squamous cell carcinoma Failure to thrive Basal cell carcinoma Severe vision loss Alopecia of scalp Osteosarcoma Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Weight loss Nausea Anorexia Hoarse voice Peripheral neuropathy Hepatic failure Hepatomegaly Cardiomyopathy Hypertonia Splenomegaly Dilatation Hepatosplenomegaly Jaundice Elevated hepatic transaminase Hypertrophic cardiomyopathy Irritability Paralysis Abnormality of the liver Papillary renal cell carcinoma Aplastic anemia Thyroid adenoma Generalized osteoporosis Moon facies Primary hypercortisolism Pigmented micronodular adrenocortical disease Paradoxical increased cortisol secretion on dexamethasone suppression test Recurrent fractures Ventricular hypertrophy Left ventricular hypertrophy Hyperphosphaturia Carcinoid tumor Mood changes Retinoblastoma Aortic valve calcification Mitral valve calcification Abnormality of the parathyroid gland Calcium nephrolithiasis Elevated alkaline phosphatase of bone origin Polyarticular chondrocalcinosis Fever Hypospadias Decreased circulating ACTH level Increased circulating cortisol level Hirsutism Kyphosis Small for gestational age Hypotension Hyperlipidemia Atherosclerosis Hypercholesterolemia Hypoalbuminemia Lipodystrophy Hypercoagulability Asthenia Depressivity Truncal obesity Cerebral cortical atrophy Anxiety Mental deterioration Bruising susceptibility Round face Psychosis Hypertrichosis Thin skin Agitation Infertility Amenorrhea Abnormality of the head Pterygium Nail dysplasia Microdontia Pancytopenia Small nail Hyperpigmentation of the skin Hepatic fibrosis Bone marrow hypocellularity Sparse eyelashes Epiphora Nail dystrophy Pulmonary fibrosis Oral leukoplakia Nasolacrimal duct obstruction Esophageal stricture Decreased mean platelet volume Pterygium of nails Arthralgia Hamartoma Renal cell carcinoma Carious teeth Thrombocytopenia Abnormality of the cardiovascular system Clitoral hypertrophy Ambiguous genitalia Recurrent urinary tract infections Gynecomastia Azoospermia Growth abnormality Polycystic ovaries Sarcoma Precocious puberty Abnormality of the thorax Adrenal insufficiency Microcephaly Decreased fertility Renal salt wasting Astrocytoma Abnormality of the ovary Congenital adrenal hyperplasia Abnormal spermatogenesis Adrenogenital syndrome Premature pubarche Reduced amygdala volume Episodic peripheral neuropathy



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