Congestive heart failure, and Delayed puberty

Diseases related with Congestive heart failure and Delayed puberty

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Medium match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Medium match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Congestive heart failure and Delayed puberty

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Failure to thrive Global developmental delay Cardiomyopathy Hypogonadism Increased bone mineral density Intellectual disability Diarrhea Scoliosis Strabismus Depressivity Seizures Cirrhosis Hepatomegaly Hypertension Diabetes mellitus Hepatosplenomegaly Cyanosis Edema Pericardial effusion Portal hypertension Splenomegaly Syncope Abnormality of the thorax Abdominal pain Ascites Decreased body weight Motor delay Abdominal distention Ptosis Dilatation Delayed skeletal maturation Thrombocytopenia Recurrent respiratory infections Pulmonary arterial hypertension Kyphosis Infertility Premature ovarian insufficiency Dilated cardiomyopathy Anemia

Rare Symptoms - Less than 30% cases


Hematuria Recurrent infections Abnormal bleeding Generalized myoclonic seizures Puberty and gonadal disorders Pancytopenia Increased antibody level in blood Epistaxis Progressive neurologic deterioration Abnormality of the testis Bone pain Osteolysis Oculomotor apraxia Abnormality of the genital system Bilateral cryptorchidism Leukopenia Increased susceptibility to fractures Cholelithiasis Mitral regurgitation Clubbing Menorrhagia Spontaneous abortion Secondary amenorrhea Muscle weakness Lymphadenopathy Insulin-resistant diabetes mellitus Ophthalmoplegia Hydrops fetalis Reduced bone mineral density Hypertelorism Neoplasm Prominent superficial veins Pain Protruding ear Alopecia Hyperkeratosis Pulmonary fibrosis Triangular face Overgrowth Aortic valve stenosis Type II diabetes mellitus Broad forehead Hypertrophic cardiomyopathy Abnormality of eye movement Dementia Sepsis Eczema Proteinuria Lymphopenia Dyspnea Myoclonus Myopia Mandibular prognathia Ataxia Aortic valve calcification Generalized hypotonia Interstitial pulmonary abnormality Gait disturbance Pectus excavatum Abnormal heart morphology Petechiae Corneal opacity Convex nasal ridge Amenorrhea Vomiting Abnormality of the spleen Generalized osteosclerosis Arthritis Lethargy Ventricular arrhythmia Orthopnea Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Abnormal myocardium morphology Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Hypogonadotrophic hypogonadism Impotence Increased serum ferritin Easy fatigability Tremor Avascular necrosis of the capital femoral epiphysis Spontaneous hematomas Micropenis Exertional dyspnea Intellectual disability, mild Abnormality of the skeletal system Wide nasal bridge Pallor Cryptorchidism Aseptic necrosis Hepatocellular carcinoma Supranuclear gaze palsy Full cheeks Vertebral compression fractures Multiple myeloma Peripheral edema Retinal degeneration Calf muscle hypertrophy Congenital cataract Hypotrichosis Pes planus Skeletal muscle atrophy Thoracic kyphosis Absent frontal sinuses Micrognathia Pericardial constriction Abnormal heart valve morphology Constrictive pericarditis Thin vermilion border J-shaped sella turcica Hypoplastic frontal sinuses Laryngomalacia Short palm Thin skin Neoplasm of the skin Finger clinodactyly Abnormality of the voice Narrow face Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Bulbar palsy Weak voice Rocker bottom foot Hypertriglyceridemia Mitral valve prolapse Hip dysplasia Abnormality of the sternum Lower limb hyperreflexia Limitation of joint mobility Hepatic steatosis Hyperinsulinemia Hyperglycemia Fibroma Nephroblastoma Slow saccadic eye movements Retinopathy Growth hormone deficiency Decreased antibody level in blood Nevus Abnormality of the acoustic reflex Hypodontia Astigmatism Dolichocephaly Small for gestational age Intellectual disability, moderate Pigmentary retinopathy Abnormality of the nervous system Severe short stature Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Macrocephaly Intrauterine growth retardation Dysarthria Depressed nasal bridge Abnormality of ion homeostasis Epidermal acanthosis Myocardial fibrosis Abnormal thrombosis Microglossia Scaphocephaly Hypercoagulability Restrictive deficit on pulmonary function testing Pericarditis Protein-losing enteropathy Astrocytosis Slender long bone High pitched voice Dental crowding Coronary artery atherosclerosis Cachexia Reduced tendon reflexes Abnormal saccadic eye movements Acanthosis nigricans Pointed chin Mitral valve calcification Increased body weight Insulin resistance Premature graying of hair Hypoalbuminemia Aplasia/Hypoplasia of the eyebrow Hydrocephalus Vascular calcification Biliary tract obstruction Abnormality of skin pigmentation Neurological speech impairment High palate Nystagmus Abnormality of the eye Dysphagia Hypertonia Abnormal platelet function EEG abnormality Dystonia Encephalopathy Difficulty walking Rigidity Aggressive behavior Cognitive impairment Spasticity Mental deterioration Bruising susceptibility Arthralgia of the hip Sclerosis of hand bone Hepatic fibrosis Abnormality of coagulation Protuberant abdomen Gingival bleeding Osteomyelitis Leukocytosis Bipolar affective disorder Edema of the lower limbs Spastic paraparesis Meningitis Anorexia Flank pain Osteoarthritis Periorbital edema Apraxia Abnormality of the cardiovascular system Parkinsonism Esodeviation Hypersplenism Fractures of the long bones Abnormality of bone marrow cell morphology Abnormality of circulating leptin level Patchy hypo- and hyperpigmentation Abnormal retinal morphology Pathologic fracture Generalized tonic-clonic seizures Meningioma Malabsorption Progeroid facial appearance Fragile nails Neurodegeneration Neoplasm of the lung Progressive cerebellar ataxia Intention tremor Prematurely aged appearance Osteolytic defects of the phalanges of the hand Ovarian neoplasm Sparse body hair Telangiectasia of the skin Glycosuria Opisthotonus Aplasia/Hypoplasia of the skin Lipoatrophy Restrictive ventilatory defect Decreased fertility Abnormal pyramidal sign Renal neoplasm Progressive clavicular acroosteolysis Neoplasm of the breast Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Generalized lipodystrophy Osteosarcoma Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Lack of skin elasticity Pili torti Peripheral arterial stenosis Abnormality of the cerebral vasculature Feeding difficulties Hypospadias Muscular hypotonia Ventricular tachycardia Sparse pubic hair Poikiloderma Down-sloping shoulders Short clavicles Thoracic scoliosis Scleroderma Tricuspid regurgitation Bilateral ptosis Precocious puberty Lipodystrophy Polycystic ovaries Short chin Abnormality of the ovary Hypergonadotropic hypogonadism Telangiectasia Atrial fibrillation Cardiomegaly Abnormality of the skin Wide nose Tachycardia Arachnodactyly Microtia Retrognathia Flexion contracture Thyroid crisis Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Abnormality of hair density Hepatitis Thyroiditis Autoimmune hemolytic anemia Inflammation of the large intestine Patent foramen ovale Encephalitis Recurrent upper respiratory tract infections Leukoencephalopathy Abnormal intestine morphology Purpura Type I diabetes mellitus Bronchiectasis Inflammatory abnormality of the skin Hemolytic anemia Poor wound healing Autoimmunity Carcinoma Hypothyroidism Pneumonia Immunodeficiency Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Myofiber disarray Primary testicular failure Sclerodactyly Testicular dysgenesis Wide nasal base Heteronymous hemianopia Abnormal visual field test Pulmonary embolism Headache Goiter Cranial nerve paralysis Gynecomastia Diplopia Palpitations Progressive visual loss Hypotension Vertigo Nausea and vomiting Weight loss Hyperhidrosis Blindness Hyperthyroidism Abnormality of endocrine pancreas physiology Elevated transferrin saturation Abnormality of the anterior pituitary Abnormality of iron homeostasis Increased serum iron Congenital hepatic fibrosis Generalized hyperpigmentation Arthropathy Azoospermia Hyperpigmentation of the skin Abnormality of the liver Elevated hepatic transaminase Hypokalemia Growth hormone excess Internal ophthalmoplegia Increased thyroid-stimulating hormone level Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Abnormality of the pituitary gland Periodic hypokalemic paresis Erectile abnormalities Bitemporal hemianopia Decreased fertility in males Adrenocorticotropin deficient adrenal insufficiency Female hypogonadism Central adrenal insufficiency Decreased circulating ACTH level Increased circulating gonadotropin level Sudden loss of visual acuity Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Oculomotor nerve palsy Abnormality of the menstrual cycle Supraventricular arrhythmia Hemianopia Menstrual irregularities Adrenocorticotropic hormone deficiency Male hypogonadism Prolactin excess Autoimmune thrombocytopenia Hashimoto thyroiditis Abnormal facial shape Low-set ears Pulmonic stenosis Pectus carinatum Conductive hearing impairment Neonatal hypotonia Kyphoscoliosis Posteriorly rotated ears Abnormality of cardiovascular system morphology Respiratory insufficiency Short neck Epicanthus Delayed speech and language development Cleft palate Webbed neck Sensorineural hearing impairment Hearing impairment Intermittent lactic acidemia Recurrent infections in infancy and early childhood Increased mitochondrial number Cyclic neutropenia Agranulocytosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Monocytosis Pyoderma Prolonged QTc interval Chest pain Myocardial infarction Granulocytopenia Hyposmia Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Abnormal mitral valve morphology Angina pectoris Depressed nasal ridge Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Unilateral renal agenesis Cubitus valgus Pterygium Mutism Spina bifida occulta Scapular winging Cafe-au-lait spot Abnormal endocardium morphology Abnormality of neutrophils Dilatation of the cerebral artery Functional abnormality of the bladder Acidosis Myopathy Respiratory distress Talipes equinovarus Peripheral neuropathy Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Autoimmune neutropenia Hypoglycemia Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Immune dysregulation Generalized osteoporosis Villous atrophy Chronic mucocutaneous candidiasis Abnormality of the endocrine system Macrotia Deeply set eye 3-Methylglutaconic aciduria Abnormality of mitochondrial metabolism Hypocholesterolemia Abnormality of the mitochondrion Endocardial fibroelastosis Skeletal myopathy Left ventricular failure Recurrent aphthous stomatitis Decreased plasma carnitine Left ventricular noncompaction Organic aciduria Mitochondrial myopathy Poor appetite Myopathic facies Hyperammonemia Proximal muscle weakness Recurrent bacterial infections Exercise intolerance Specific learning disability Aciduria Round face Sudden cardiac death Neutropenia Lactic acidosis Talipes Stroke Feeding difficulties in infancy Facial palsy Sleep myoclonus



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