Congestive heart failure, and Anorexia

Diseases related with Congestive heart failure and Anorexia

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


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High match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

High match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

High match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


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

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Other less relevant matches:

High match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

High 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

High 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

High match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

High match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

High match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

High match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Anorexia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Anemia Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Diarrhea

Common Symptoms - More than 50% cases


Fatigue

Uncommon Symptoms - Between 30% and 50% cases


Headache

Common Symptoms - More than 50% cases


Fever

Uncommon Symptoms - Between 30% and 50% cases


Dyspnea

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Lethargy Renal insufficiency Weight loss Peripheral neuropathy Nausea Hearing impairment Depressivity Thrombocytopenia Vomiting Cardiomyopathy Pain Pancytopenia Cataract Abdominal pain Respiratory insufficiency Edema Pulmonary arterial hypertension Splenomegaly Respiratory distress Hemiplegia Interstitial pulmonary abnormality Malabsorption Lymphadenopathy Dementia Purpura Proteinuria Syncope Arthritis Motor delay Hypertrophic cardiomyopathy Jaundice Hypertension Feeding difficulties Short stature Visual loss Muscular hypotonia Generalized hypotonia Hypoglycemia Intellectual disability Stroke Paresthesia Polyneuropathy Cardiac arrest Microcephaly Abnormal facial shape Abnormality of retinal pigmentation Decreased liver function Rhabdomyolysis Coma Growth delay Muscle weakness Tremor Hepatic failure Dilated cardiomyopathy Photophobia Visual impairment Gait ataxia Elevated hepatic transaminase Hepatic steatosis Pigmentary retinopathy Abnormality of the liver Metabolic acidosis Hypothyroidism Acidosis Delayed puberty Developmental regression Abnormality of the renal tubule Easy fatigability Exercise intolerance Left ventricular hypertrophy Nausea and vomiting Myalgia Encephalopathy Dysphagia Spontaneous hematomas Clubbing Decreased body weight Abnormality of the cardiovascular system Generalized myoclonic seizures Corneal opacity Feeding difficulties in infancy Leukopenia Congenital cataract Nephropathy Hematuria Cough Sudden cardiac death Osteolysis Portal hypertension Myoclonus Tubulointerstitial nephritis Strabismus Spasticity Cognitive impairment Kyphosis Delayed skeletal maturation Elevated serum creatine phosphokinase Muscle cramps Sensorineural hearing impairment Reduced consciousness/confusion Pallor Elevated erythrocyte sedimentation rate Nystagmus Epistaxis Memory impairment Optic atrophy Edema of the lower limbs Vertigo Aciduria Gastroesophageal reflux Myopathy

Rare Symptoms - Less than 30% cases


Proximal muscle weakness Chronic fatigue Pancreatitis Increased antibody level in blood Skeletal muscle atrophy Type I diabetes mellitus Hyperthyroidism Clonus Heart block Increased serum lactate Abnormality of the gastrointestinal tract Diabetes insipidus Pulmonary hypoplasia Bundle branch block Lactic acidosis Proximal tubulopathy Abnormality of the cerebral white matter Episodic vomiting Abnormality of the pinna Emphysema Hyperammonemia Glomerulopathy Subcutaneous nodule Petechiae Glycosuria Drowsiness Papule Chest pain Palpitations Blindness Abnormal lung morphology Xerostomia Ragged-red muscle fibers Transient ischemic attack Megaloblastic anemia Ventricular tachycardia Diabetes mellitus Cardiorespiratory arrest Hypercalciuria Mutism Progressive sensorineural hearing impairment Renal tubular dysfunction Abnormality of coagulation Arthralgia Retinal dystrophy Abnormal myocardium morphology Ascites Abdominal distention Abnormal bleeding Multiple myeloma Cyanosis Neutropenia Supranuclear gaze palsy Progressive neurologic deterioration Increased serum ferritin Abnormality of eye movement Bone pain Hepatocellular carcinoma Protuberant abdomen Oculomotor apraxia Reduced bone mineral density Cholelithiasis Abnormality of the thorax Retinal degeneration Exertional dyspnea Menorrhagia Cirrhosis Abnormality of the skin Areflexia Scoliosis Personality changes Gait disturbance Dysarthria Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Arthralgia of the hip Dysesthesia Aminoaciduria Neurological speech impairment Generalized osteosclerosis Abnormality of the spleen Recurrent respiratory infections Bilateral sensorineural hearing impairment Osteoporosis Osteopenia Hepatosplenomegaly EEG abnormality Avascular necrosis of the capital femoral epiphysis Amenorrhea Behavioral abnormality Erythema Pruritus Dystonia Psychosis Chorioretinal atrophy Urinary incontinence Multiple lipomas Hemolytic anemia Atrial fibrillation Pleural effusion Heart murmur Ventricular hypertrophy Confusion Nephrotic syndrome Hypoketotic hypoglycemia Hypertonia Migraine Constipation Mental deterioration Hyponatremia Bilateral ptosis Gastrointestinal inflammation Elevated plasma acylcarnitine levels Difficulty walking Reye syndrome-like episodes Anxiety High forehead Apnea Abnormality of acid-base homeostasis Cerebral cortical atrophy Ophthalmoplegia Gingival bleeding Loss of consciousness Abnormality of skin pigmentation Hypocalcemia Brain atrophy Ischemic stroke Atrioventricular block Myopia Periorbital edema Hypopigmentation of the skin Nyctalopia Chronic kidney disease Slurred speech Retinopathy Macrocephaly Peripheral axonal neuropathy Abnormal thrombosis Abnormal cornea morphology Abnormality of the nervous system Decreased female libido Carcinoma Chronic pain Axial dystonia Hemophagocytosis Tubulointerstitial fibrosis Eclabion Abnormality of the kidney Skin rash Abnormal renal physiology Miosis Prominent nasal bridge Vascular skin abnormality Supraventricular arrhythmia Biventricular hypertrophy Conjunctival telangiectasia Abnormal endocardium morphology Midface retrusion Dilatation EEG with temporal sharp waves Slowed horizontal saccades Abnormal platelet aggregation CSF pleocytosis Hyperhidrosis Laryngeal stridor Giant cell hepatitis Abducens palsy Intestinal bleeding Hyperkeratosis Abnormality of cardiovascular system physiology Subcutaneous hemorrhage Mandibular prognathia Coarse facial features Posteriorly rotated ears Primary hypothyroidism Microalbuminuria Polydipsia Abnormal mitral valve morphology Stage 5 chronic kidney disease Abnormal intestine morphology Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Lymphedema Bradycardia Fasciculations Wheezing Renal tubular acidosis Abnormal autonomic nervous system physiology Spontaneous abortion Abnormal heart valve morphology Hyperlipidemia Aortic regurgitation Progressive hearing impairment Mitral regurgitation Telangiectasia of the skin Celiac disease Orthostatic hypotension Corneal dystrophy Ventricular arrhythmia Tinnitus Coronary artery atherosclerosis Impotence Anhidrosis Prominent supraorbital ridges Abnormality of the hand Glomerulosclerosis Polyuria Tricuspid regurgitation Hypohidrosis Myocardial infarction Tachycardia Sinus bradycardia T-wave inversion Bulbous nose Abnormal aortic valve morphology Gastrointestinal dysmotility Thick eyebrow Periorbital fullness Impaired vibratory sensation Asymmetric septal hypertrophy High-frequency hearing impairment Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Myocardial fibrosis Thick vermilion border Thick lower lip vermilion Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Hypotension Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Mitral valve prolapse Tubular atrophy Elevated serum creatinine Abnormality of metabolism/homeostasis Shortened QT interval Retinal vascular tortuosity Vitiligo Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Hypoparathyroidism Basal ganglia calcification Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Delusions Facial diplegia Aortic dissection Visual hallucinations Increased CSF lactate Thyroiditis Vertebral fusion Cerebral ischemia Hemiplegia/hemiparesis Decreased nerve conduction velocity Aortic aneurysm Abnormality of mitochondrial metabolism Ophthalmoparesis Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Focal segmental glomerulosclerosis Prolonged QT interval Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Wolff-Parkinson-White syndrome Gait imbalance Growth abnormality Progressive night blindness Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Cochlear degeneration Psychotic episodes Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Abnormality of the cerebellar vermis Tubulointerstitial abnormality Anterior hypopituitarism Motor polyneuropathy Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Ileus Hemianopia Psychomotor deterioration Renal Fanconi syndrome Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Cachexia Hyperkinesis Corneal crystals Acroparesthesia Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Abnormal common carotid artery morphology ST segment depression Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Hypertelorism Ptosis Functional abnormality of the gastrointestinal tract Unexplained fevers Ventriculomegaly Angiokeratoma Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Obstructive lung disease Mucosal telangiectasiae Impaired temperature sensation Hyposthenuria Histiocytosis Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Concentric hypertrophic cardiomyopathy Hyperreflexia Short neck Goiter Cerebral visual impairment Generalized-onset seizure Type II diabetes mellitus Status epilepticus Hemiparesis Hypertrichosis Involuntary movements Gingival overgrowth Hallucinations Truncal ataxia Specific learning disability EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Macular degeneration External ophthalmoplegia Reduced tendon reflexes Hypopigmented skin patches Schizophrenia Cerebral calcification Hip dysplasia Cerebellar atrophy Attention deficit hyperactivity disorder Abnormality of the dentition Cerebral atrophy Hyporeflexia Cerebellar hypoplasia Rod-cone dystrophy Hypogonadism Autism Protruding ear Generalized tonic-clonic seizures Sensory impairment Arthrogryposis multiplex congenita Carious teeth Anal atresia Dysmetria Ichthyosis Polymicrogyria Hirsutism Postural instability Abnormal cerebellum morphology Abnormal pattern of respiration Progressive spastic quadriplegia Restrictive deficit on pulmonary function testing Epiphora Nephrocalcinosis Abdominal situs inversus Eosinophilia Hypercalcemia Macrocytic anemia Inflammation of the large intestine Pulmonary fibrosis Bronchiectasis Blurred vision Secondary amenorrhea Abnormality of the musculature Hyperuricemia Keratoconjunctivitis sicca Hemoptysis Hyperpigmentation of the skin Nephrolithiasis Uveitis Neoplasm Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Recurrent infections Alopecia Abnormality of the basal ganglia Glaucoma Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Facial palsy Scarring Progressive peripheral neuropathy Sideroblastic anemia Optic neuropathy Joint swelling Vitamin B12 deficiency Abnormal conjunctiva morphology Abnormality of the adrenal glands Chorioretinitis Dacryocystitis Anterior uveitis Abnormal salivary gland morphology Iridocyclitis Vitreous floaters Skin plaque Vitritis Abnormal reproductive system morphology Abnormality of skin morphology Posterior vitreous detachment Enlargement of parotid gland Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Abnormality of the lymph nodes Generalized lymphadenopathy Increased CSF protein Skin nodule Hypothermia Hyperglycemia Upper airway obstruction Macular edema Immune dysregulation Bone cyst Night sweats Erythema nodosum Anterior synechiae of the anterior chamber Pneumothorax Abnormality of the pleura Vitreous hemorrhage Chylothorax Cystoid macular edema Abnormality of the cerebrospinal fluid Cystathioninuria Decreased methionine synthase activity Parotitis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Decreased plasma carnitine Abnormal left ventricle morphology Hepatic encephalopathy Abnormal chorioretinal morphology Acute hepatic steatosis Posterior staphyloma 3-hydroxydicarboxylic aciduria Recurrent hypoglycemia Raynaud phenomenon Pulmonary infiltrates Low-set ears Cutis marmorata Hydrocephalus Intellectual disability, severe Urticaria Cholestatic liver disease Preeclampsia Vasculitis Abnormality of neutrophils Polyclonal elevation of IgM Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Normocytic anemia Abnormal electroretinogram Peripheral demyelination Abnormality of the retinal vasculature Exotropia Lymphoproliferative disorder Hypercoagulability Sensorimotor neuropathy Tachypnea Cranial nerve paralysis Reduced visual acuity Decreased adenosylcobalamin Hemolytic-uremic syndrome Cor pulmonale Methylmalonic aciduria Homocystinuria Myelopathy Gastritis Right ventricular failure Atrophy of the spinal cord Disproportionate tall stature Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Hyperhomocystinemia Thromboembolism Apathy Macrotia Long face Gastrointestinal hemorrhage Hip dislocation Lymphoma Lower limb muscle weakness Smooth philtrum Unsteady gait Joint hypermobility Ectopia lentis Leukemia Abnormality of extrapyramidal motor function Autoimmunity Broad-based gait Recurrent urinary tract infections Atherosclerosis Proptosis Abnormal liver parenchyma morphology Abnormal cardiac ventricular function Hypoxemia Ethylmalonic aciduria Cataplexy Narcolepsy Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Reduced protein C activity Hypersarcosinemia Limb tremor Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Renal cortical cysts Impaired mastication Flexion contracture Abnormal corpus callosum morphology Progressive proximal muscle weakness Ketonuria Excessive daytime somnolence Organic aciduria Exercise-induced myalgia Medulloblastoma Loss of ability to walk Nonketotic hypoglycemia Acute pancreatitis Respiratory arrest Generalized aminoaciduria Oliguria Glutaric aciduria Personality disorder Hypoglycemic coma Abnormality of blood glucose concentration Intrauterine growth retardation Myoglobinuria Aspiration pneumonia Bulbar palsy Congenital ichthyosiform erythroderma Poor eye contact Atrophy/Degeneration affecting the brainstem Limb hypertonia Epileptic spasms Fetal akinesia sequence Opisthotonus Hypomagnesemia Bulbar signs Trismus Slow saccadic eye movements Nonimmune hydrops fetalis Congenital nonbullous ichthyosiform erythroderma Abnormality of the larynx Hypokinesia Athetosis Polyhydramnios Hydrops fetalis Umbilical hernia Rigidity Irritability Decreased fetal movement Cholestasis Thickened skin Progressive microcephaly Akinesia Aspiration Elbow flexion contracture Knee flexion contracture Hyperbilirubinemia Poor suck Intracranial hemorrhage Ectropion Ketosis Fatigable weakness Increased T cell count Aseptic necrosis Spastic paraparesis Increased susceptibility to fractures Leukocytosis Osteomyelitis Pericardial effusion Pathologic fracture Bipolar affective disorder Increased bone mineral density Vertebral compression fractures Esodeviation Hypersplenism Fractures of the long bones Abnormal cardiac septum morphology Abnormality of bone marrow cell morphology Flank pain Meningitis Hepatic fibrosis Vascular calcification Myelodysplasia Abnormality of the nasal mucosa Maculopapular exanthema Enlarged lacrimal glands Vitreous snowballs Pulmonary granulomatosis Abnormal trabecular meshwork morphology Polycystic ovaries Osteoarthritis Cone/cone-rod dystrophy Hoarse voice Situs inversus totalis Abnormality of the eye Bruising susceptibility Parkinsonism Apraxia Abnormal platelet function Biliary tract obstruction Acute kidney injury Spastic tetraparesis Heterotopia Renal dysplasia Ventricular septal defect Wide anterior fontanel Leukodystrophy Scapular winging Poor head control Abnormality of the genital system Cryptorchidism Polycystic kidney dysplasia Back pain Stridor Ventricular fibrillation Restrictive ventilatory defect Difficulty climbing stairs Pachygyria Tetraparesis Puberty and gonadal disorders Abnormal heart morphology Horizontal supranuclear gaze palsy Depressed nasal bridge Respiratory failure Telecanthus Hyperlordosis Respiratory tract infection Limb muscle weakness Cardiomegaly Joint hyperflexibility Renal cyst Atrial septal defect Tetraplegia Generalized muscle weakness Gliosis Waddling gait Prominent ear helix



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