Congestive heart failure, and Hypopigmentation of the skin

Diseases related with Congestive heart failure and Hypopigmentation of the skin

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

Top matches:

Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Other less relevant matches:

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Low match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cataract Failure to thrive Short stature Neoplasm Alopecia Skeletal muscle atrophy Peripheral neuropathy Abnormality of the hair Generalized hypotonia Skin ulcer Muscular hypotonia Hepatomegaly Hydrocephalus Dilatation Telangiectasia of the skin Abnormality of the thorax Abnormality of retinal pigmentation Visual impairment Behavioral abnormality Arrhythmia Hypothyroidism Attention deficit hyperactivity disorder Subcutaneous nodule Hyperkeratosis Chylothorax Chest pain Renal neoplasm Pneumothorax Renal insufficiency Dyspnea Papule Osteoporosis Cafe-au-lait spot Precocious puberty Carcinoma Respiratory distress

Rare Symptoms - Less than 30% cases

Lack of skin elasticity Abnormality of the cerebral vasculature Abnormal chorioretinal morphology Meningioma Stroke Osteosarcoma Palpitations Retinal detachment Cough Cognitive impairment Osteolysis Skin rash Abnormality of the testis Progeroid facial appearance Pili torti Peripheral arterial stenosis Chondrocalcinosis Angiofibromas Ovarian neoplasm Neoplasm of the lung Scoliosis Chordoma Hepatic failure Hepatic steatosis Decreased fertility Micrognathia Coma Brain atrophy Anorexia Prematurely aged appearance Lipoatrophy Decreased liver function Aplasia/Hypoplasia of the skin Tachypnea Secondary amenorrhea Chorioretinal atrophy Glaucoma Autism Renal cyst Hyperactivity Cardiac rhabdomyoma Abnormal hair whorl Skin tags Abnormality of the respiratory system Wolff-Parkinson-White syndrome Hypomelanotic macule Astrocytoma Gingival fibromatosis Chorioretinitis Subcutaneous calcification Abnormality of the pleura Adenoma sebaceum Subependymal nodules Ependymoma Shagreen patch Cortical tubers Optic nerve glioma Renal angiomyolipoma Dental enamel pits Neoplasm of the small intestine Headache Subungual fibromas Nevus Retinopathy Specific learning disability Cerebral calcification Generalized-onset seizure White forelock Rhabdomyoma Hypopigmented skin patches Renal cell carcinoma Achromatic retinal patches Pulmonary lymphangiomyomatosis Emphysema Neoplasm of the oral cavity Premature arteriosclerosis Infantile spasms Ungual fibroma Hamartoma Premature graying of hair Nausea Abnormality of the liver Sarcoma Decreased body weight Type II diabetes mellitus Convex nasal ridge Cardiomegaly Retinal degeneration Aortic valve stenosis Diabetes mellitus Hypogonadism Proximal muscle weakness Splenomegaly Edema Abnormality of the skeletal system Increased bone mineral density High palate Macule Weight loss Erythema Uveitis Fibroma Thyroid carcinoma Generalized hypopigmentation Fatigue Fever Eosinophilia Narrow face Corneal opacity Photophobia Laryngomalacia Cerebral cortical atrophy Vomiting Rocker bottom foot Abnormality of the voice Premature loss of teeth Hypoplastic fingernail Verrucae Lipodystrophy Cerebral ischemia Asymmetric growth Deviation of finger Supernumerary ribs Retinal hemorrhage Absent hand Enlarged joints Dermal atrophy Dystrophic toenail Hearing abnormality Abnormal toenail morphology Myelodysplasia Polydipsia Irregular hyperpigmentation Abnormality of immune system physiology Supernumerary nipple Hemiplegia/hemiparesis Keratitis Abnormality of dental morphology Sclerosis of hand bone Encephalitis Polyuria Polyphagia Squamous cell carcinoma Ridged fingernail Abnormal hand morphology Alopecia of scalp Nephropathy Subcapsular cataract Pulmonary artery stenosis Posterior subcapsular cataract Hoarse voice Insulin resistance Patchy hypo- and hyperpigmentation Sparse scalp hair Myocardial infarction Hypergonadotropic hypogonadism Decreased testicular size Spontaneous abortion Type I diabetes mellitus Small hand Myeloid leukemia Broad nail Macular degeneration Leukemia Joint stiffness High pitched voice Proptosis Micropenis Scleroderma Atherosclerosis Rod-cone dystrophy Abnormality of the dentition Slender build Melanoma Retinal vascular proliferation Breast carcinoma Fragile nails Aplasia/Hypoplasia of the testes Arteriosclerosis Abnormality of skin morphology Generalized lipodystrophy Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Neoplasm of the breast Enlargement of parotid gland Posterior vitreous detachment Abnormal reproductive system morphology Vitreous snowballs Vitritis Vitreous floaters Aortic valve calcification Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Erythema nodosum Enlarged lacrimal glands Pulmonary granulomatosis Abnormality of the cerebrospinal fluid Hypertriglyceridemia Sparse body hair Glycosuria Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Calf muscle hypertrophy Hyperglycemia Premature ovarian insufficiency Hyperinsulinemia Reduced bone mineral density Neoplasm of the skin Finger clinodactyly Thin skin Mitral valve prolapse Abnormal trabecular meshwork morphology Hip dysplasia Limitation of joint mobility Short palm Thin vermilion border Delayed puberty Osteolytic defects of the phalanges of the hand Prominent superficial veins Exercise-induced myalgia Congenital cataract Hypotrichosis Abnormality of the pulmonary artery Abnormal hair quantity Pes planus Fasting hyperinsulinemia Cystoid macular edema Narrow nasal ridge Neoplasm of the thyroid gland Leukopenia Nephrocalcinosis Hyperpigmentation of the skin Bronchiectasis Nephrolithiasis Abnormal lung morphology Pancytopenia Syncope Sudden cardiac death Hemolytic anemia Lymphadenopathy Abnormality of the Achilles tendon Scarring Hypercalciuria Facial palsy Arthritis Intervertebral disc degeneration Thrombocytopenia Blindness Anemia Acral lentiginous melanoma Insulin-resistant diabetes mellitus Gastrointestinal carcinoma Poliosis Soft tissue sarcoma Progressive clavicular acroosteolysis Cutaneous melanoma Ventricular tachycardia Hypercalcemia Vitreous hemorrhage Optic neuropathy Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Joint swelling Hemoptysis Portal hypertension Keratoconjunctivitis sicca Hyperuricemia Hyperthyroidism Abnormality of the musculature Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Increased antibody level in blood Blurred vision Pulmonary fibrosis Diabetes insipidus Epiphora Inflammation of the large intestine Pleural effusion Spina bifida occulta Muscular hypotonia of the trunk Abnormality of the fingernails Cardiomyopathy Dilated cardiomyopathy Nyctalopia Hypertrophic cardiomyopathy Elevated hepatic transaminase Hypoglycemia Jaundice Abdominal pain Elevated serum creatine phosphokinase Visual loss Abnormality of metabolism/homeostasis Myopathy Macrocephaly Retinal dystrophy Myopia Feeding difficulties Fetal ascites J-shaped sella turcica Vacuolated lymphocytes Visceromegaly Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Esophageal atresia Metaphyseal irregularity Peripheral axonal neuropathy Metabolic acidosis Hydrops fetalis Reduced consciousness/confusion 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Reye syndrome-like episodes Acute hepatic steatosis Elevated plasma acylcarnitine levels Gastrointestinal inflammation Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Cholestatic liver disease Polyneuropathy Hypoketotic hypoglycemia Recurrent hypoglycemia Preeclampsia Rhabdomyolysis Multiple lipomas Loss of consciousness Abnormal electroretinogram Hypocalcemia Sensorimotor neuropathy Exotropia Pigmentary retinopathy Peripheral demyelination Aspiration Gingival overgrowth Optic atrophy Neurofibromas Schwannoma Paraganglioma Pheochromocytoma Pituitary adenoma Macroorchidism Blue irides Increased circulating cortisol level Bipolar affective disorder Growth hormone excess Striae distensae Freckling Hypermelanotic macule Multiple lentigines Heart murmur Ischemic stroke Hemangioma Increased body weight Gynecomastia Tall stature Abnormality of the skin Hirsutism Confusion Abnormality of the eye Myalgia Red hair Pituitary prolactin cell adenoma Nephrotic syndrome Cerebellar atrophy Premature birth Ascites Abnormality of the foot Severe global developmental delay Respiratory tract infection Hepatosplenomegaly Coarse facial features Osteopenia Inguinal hernia Hernia Cerebral atrophy Anteverted nares Testicular neoplasm Epicanthus Ptosis Nystagmus Ataxia Cutaneous myxoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Motor delay Respiratory insufficiency Abnormality of dental enamel Wide nose Self-injurious behavior Overfolded helix Sacral dimple Microretrognathia Narrow palpebral fissure Narrow forehead Dandy-Walker malformation Wide intermamillary distance Esotropia Single transverse palmar crease Thick vermilion border Bulbous nose Overlapping toe Long face Ichthyosis Smooth philtrum Toe syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Muscle weakness Aggressive behavior Deeply set eye Skeletal dysplasia 2-3 toe syndactyly Ectopic kidney Polydactyly Hyperhidrosis Abnormality of the nail Blue sclerae Pulmonary arterial hypertension Abnormal blistering of the skin Hypodontia Delayed eruption of teeth Abnormality of skin pigmentation Oral cleft Finger syndactyly Camptodactyly of finger Umbilical hernia Microphthalmia Broad hallux Gait disturbance Spasticity Strabismus Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Epiphyseal stippling Long fingers Polyhydramnios Posteriorly rotated ears EEG abnormality Gingivitis Abnormality of the kidney Intellectual disability, moderate Respiratory failure Intellectual disability, mild Subependymal giant-cell astrocytoma Confetti-like hypopigmented macules Retinal hamartoma Macrodactyly Third degree atrioventricular block Rhabdomyosarcoma Abnormality of the pancreas Neoplasm of the pancreas Autistic behavior Multiple renal cysts Nevus flammeus Multiple cafe-au-lait spots Cortical dysplasia Prominent occiput Abnormality of neuronal migration Atrioventricular block Increased intracranial pressure Aplasia/Hypoplasia of the corpus callosum Bradycardia Iris coloboma Anxiety Irritability Abnormality of the cerebral white matter Agenesis of corpus callosum Connective tissue nevi Midface retrusion Syndactyly Hypertonia Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Brachydactyly Low-set ears Cryptorchidism Cleft palate Projection of scalp hair onto lateral cheek Premature chromatid separation Sleep disturbance Flank pain Brain neoplasm White hair Hyperventilation Nephroblastoma Aortic aneurysm Polycystic kidney dysplasia CNS hypomyelination Hypoplasia of dental enamel Heterotopia Focal-onset seizure Gliosis Abnormality of circulating leptin level


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