Congestive heart failure, and Increased bone mineral density

Diseases related with Congestive heart failure and Increased bone mineral density

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


Top matches:

Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

Low match GENERALIZED ARTERIAL CALCIFICATION OF INFANCY


Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.

GENERALIZED ARTERIAL CALCIFICATION OF INFANCY Is also known as idiopathic infantile arterial calcification|infantile arteriosclerosis|occlusive infantile arteriopathy|idiopathic obliterative arteriopathy

Related symptoms:

  • Hypertension
  • Congestive heart failure
  • Dilatation
  • Papule
  • Tachycardia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GENERALIZED ARTERIAL CALCIFICATION OF INFANCY

Low match AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS


Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS Is also known as adhr|autosomal dominant hypophosphatemia

Related symptoms:

  • Short stature
  • Muscle weakness
  • Fatigue
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

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Other less relevant matches:

Low match SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME


Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Low match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16


Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Low match ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1


Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Low match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Increased bone mineral density

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Papule Delayed puberty Fatigue Cardiomyopathy Impotence Recurrent fractures Hepatomegaly

Rare Symptoms - Less than 30% cases


Increased serum ferritin Hypophosphatemia Arthropathy Cirrhosis Ptosis Pericardial effusion Splenomegaly Vertigo Spontaneous abortion Arrhythmia Hearing impairment Infertility Diabetes mellitus Hypogonadotrophic hypogonadism Amenorrhea Tachycardia Cardiomegaly Myocardial infarction Mitral regurgitation Dilated cardiomyopathy Hyperpigmentation of the skin Conductive hearing impairment Hypophosphatemic rickets Coronary artery calcification Gynecomastia Muscle weakness Generalized arterial calcification Arterial calcification Sparse pubic hair Elevated circulating follicle stimulating hormone level Abnormality of the ovary Elevated circulating luteinizing hormone level Primary testicular failure Puberty and gonadal disorders Poor wound healing Wide nasal base Abnormality of the testis Sclerodactyly Myofiber disarray Testicular dysgenesis Ventricular septal defect Poikiloderma Telangiectasia Abnormality of the skeletal system Intellectual disability, mild Micropenis Retrognathia Microtia Arachnodactyly Wide nose Full cheeks Abnormality of the skin Convex nasal ridge Atrial fibrillation Abnormality of the genital system Down-sloping shoulders Hypergonadotropic hypogonadism Short chin Ventricular tachycardia Polycystic ovaries Lipodystrophy Precocious puberty Bilateral ptosis Premature ovarian insufficiency Bilateral cryptorchidism Scleroderma Secondary amenorrhea Thoracic scoliosis Short clavicles Tricuspid regurgitation Vomiting Thyroid hemiagenesis Decreased fertility in males Oculomotor nerve palsy Secondary growth hormone deficiency Decreased fertility in females Decreased female libido Sudden loss of visual acuity Decreased circulating ACTH level Increased thyroid-stimulating hormone level Central adrenal insufficiency Female hypogonadism Adrenocorticotropin deficient adrenal insufficiency Bitemporal hemianopia Supraventricular arrhythmia Erectile abnormalities Periodic hypokalemic paresis Abnormality of the pituitary gland Euthyroid hyperthyroxinemia Cranial nerve VI palsy Enlarged pituitary gland Fourth cranial nerve palsy Internal ophthalmoplegia Abnormal visual field test Abnormality of hair density Heteronymous hemianopia Abnormality of the menstrual cycle Hemianopia Aplasia of the phalanges of the 3rd toe Palpitations Seizures Tremor Blindness Headache Hyperhidrosis Weight loss Pallor Nausea and vomiting Hypotension Progressive visual loss Diplopia Menstrual irregularities Cranial nerve paralysis Ventricular arrhythmia Goiter Easy fatigability Hypokalemia Hyperthyroidism Growth hormone excess Increased circulating gonadotropin level Prolactin excess Male hypogonadism Adrenocorticotropic hormone deficiency Wide nasal bridge Vascular calcification Flexion contracture Joint hypermobility Excessive wrinkled skin Neoplasm of the breast Lymphangioma Upper limb asymmetry Neoplasm of the thyroid gland Constipation Skeletal dysplasia Small for gestational age Micromelia Bruising susceptibility Venous insufficiency Blue sclerae Wormian bones Reduced number of teeth Prolonged bleeding time Agenesis of permanent teeth Thin ribs Soft skin Vertebral compression fractures Dentinogenesis imperfecta Visceral angiomatosis Lower limb asymmetry Beaded ribs Osteomalacia Truncus arteriosus Dilatation Nephrocalcinosis Shock Tachypnea Ectopic calcification Cardiogenic shock Abnormality of the dentition Bone pain Spinal canal stenosis Arteriovenous malformation Abnormality of the respiratory system Hyperphosphaturia Abnormal myocardium morphology Macrocephaly Talipes Subcutaneous nodule Reduced bone mineral density Hemiplegia/hemiparesis Hamartoma Ovarian neoplasm Fractures of the long bones Pain Cryptorchidism Retinopathy Arterial stenosis Otosclerosis Arteriosclerosis Angioid streaks of the fundus Coronary artery stenosis Periarticular calcification Peripheral neuropathy Alopecia Arthralgia Hepatic steatosis Ankylosis Ascites Limitation of joint mobility Cholestasis Joint dislocation Hepatocellular carcinoma Exocrine pancreatic insufficiency Chondrocalcinosis Abnormality of the hypothalamus-pituitary axis Intellectual disability Scoliosis Endocardial fibroelastosis Rickets Abdominal pain Abnormality of iron homeostasis Elevated hepatic transaminase Arthritis Abnormality of the liver Lethargy Azoospermia Portal hypertension Generalized hyperpigmentation Congenital hepatic fibrosis Increased serum iron Abnormality of the anterior pituitary Glomerulosclerosis Elevated transferrin saturation Abnormality of endocrine pancreas physiology Failure to thrive Respiratory distress Pneumonia Genu valgum Cyanosis Ventricular hypertrophy Left ventricular hypertrophy Growth abnormality Thyroid crisis



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