Arthritis, and Urinary incontinence

Diseases related with Arthritis and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Arthritis and Urinary incontinence that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

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Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Medium 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

Low 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

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY


Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY Is also known as aprt deficiency|2,8-dihydroxyadenine urolithiasis|urolithiasis, 2,8-dihydroxyadenine|nephrolithiasis, dha|urolithiasis, dha

Related symptoms:

  • Renal insufficiency
  • Arthritis
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Arthritis and Urinary incontinence

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Nephropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Congestive heart failure Sensorineural hearing impairment Renal insufficiency Cataract Intellectual disability Short stature Seizures Bowel incontinence Headache Anxiety Obstructive lung disease Thoracolumbar kyphosis Weight loss Midface retrusion Malabsorption Paresthesia Global developmental delay Behavioral abnormality Optic atrophy Generalized hypotonia Growth delay Muscular hypotonia Myelopathy Recurrent urinary tract infections Anemia Hypertension Hematuria Confusion Arthralgia Strabismus Mandibular prognathia Frontal bossing Short neck Intellectual disability, mild Macrocephaly Inguinal hernia Dementia Coarse facial features Malar flattening Umbilical hernia Abnormality of the skull Conductive hearing impairment Scoliosis Otitis media Spasticity Hyperreflexia Chronic otitis media Ataxia Nystagmus Muscle weakness Osteoarthritis Prominent supraorbital ridges Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Thrombocytopenia Low-set ears Gait disturbance Wide nasal bridge Abnormal heart valve morphology Abnormal facial shape Failure to thrive Microcephaly Macrotia Hepatosplenomegaly Pectus carinatum Abnormality of the cardiovascular system Widely spaced teeth Patellar dislocation Clubbing of fingers Gait ataxia Talipes equinovarus Proteinuria Obesity Thick eyebrow Abnormal lung morphology Purpura Tinnitus Heart murmur Joint hyperflexibility Skeletal dysplasia Gastroesophageal reflux Ventriculomegaly Stage 5 chronic kidney disease Abnormality of the skeletal system Depressed nasal bridge Motor delay Delayed speech and language development Reduced ejection fraction Chronic obstructive pulmonary disease Abnormality of femur morphology Abnormal aortic valve morphology Abnormal cornea morphology Bulbous nose Dysuria Mental deterioration Immunodeficiency Feeding difficulties in infancy Retinal degeneration Long face Pancytopenia Psychosis Anorexia Hemiplegia Cor pulmonale Splenomegaly Abnormality of the cerebral white matter Abnormality of the dentition Epicanthus Hypertelorism Cognitive impairment Hypothyroidism Myalgia Abnormality of the nervous system Prominent nasal bridge Corneal opacity Hepatomegaly Respiratory insufficiency Gliosis Paraplegia Vomiting Back pain Cardiomyopathy Abnormal autonomic nervous system physiology Paraparesis Tremor Spina bifida Atrioventricular block Fever Dysarthria Anal atresia Arrhythmia Lower limb muscle weakness Spastic gait Impotence Patent ductus arteriosus Visual impairment Ventricular septal defect Impaired temperature sensation Orthostatic hypotension Syringomyelia Urinary retention Abnormal renal physiology Diarrhea Restrictive cardiomyopathy Meningocele Peripheral demyelination Hypotension Hallucinations Babinski sign Areflexia Brain stem compression Limited elbow extension Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Tetany Abnormality of the pharynx Epiphyseal dysplasia Limited hip extension Genu varum Corneal neovascularization Abnormality of pelvic girdle bone morphology Myeloid leukemia Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Small earlobe Trident hand Clonus Spinal stenosis with reduced interpedicular distance Short toe Tibial bowing Disproportionate short stature Childhood onset short-limb short stature Generalized joint laxity Recurrent ear infections Multiple epiphyseal dysplasia Central apnea Chronic myelogenous leukemia Neonatal short-limb short stature Central sleep apnea Cervical myelopathy Upper airway obstruction Communicating hydrocephalus Abnormal thrombocyte morphology Hypopnea Rhizomelia Hypoxemia Seborrheic dermatitis Cervical cord compression Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hypoplasia of the thymus Iritis Small foramen magnum Hip contracture Neuroblastoma Osteopetrosis Glaucoma Abnormality of the metaphysis Occipital myelomeningocele Mucosal telangiectasiae Nephrolithiasis Unexplained fevers ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Coronary artery stenosis Abnormality of the forehead Abnormality of the tonsils Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Concentric hypertrophic cardiomyopathy Shortened PR interval Acroparesthesia Vascular tortuosity Retinal vascular tortuosity Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Distal renal tubular acidosis Decreased lacrimation Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Hyposthenuria Hyperuricemia Shortened QT interval Angiokeratoma corporis diffusum Heavy proteinuria Abnormal common carotid artery morphology Abnormal form of the vertebral bodies Oral cleft Hyperlordosis Scarring Leukemia Impaired T cell function Micromelia Arrhinencephaly Sleep disturbance Cleft lip Lymphoma Overgrowth Platybasia Abnormality of the uterus Epidermal acanthosis Tetraparesis Recurrent otitis media Apnea Rigidity Abnormal ST segment Neoplasm Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Tricuspid atresia Flexion contracture Abnormal pulmonary valve morphology Multiple suture craniosynostosis Brachydactyly Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Severe short stature Anorectal anomaly Lumbar hyperlordosis Varicose veins Myelitis Long ear Vacuolated lymphocytes Choanal atresia Cranial hyperostosis Abnormality of the gingiva Renal hypoplasia Tetralogy of Fallot Retinal thinning Synovitis Specific learning disability Gastrointestinal hemorrhage Cerebral dysmyelination Synostosis of joints Oligosacchariduria Spondylolysis Abnormal echocardiogram Aganglionic megacolon Intestinal malrotation Delusions Abnormality of the sternum Thickened calvaria Bronchitis Limb dystonia Aseptic necrosis Severe sensorineural hearing impairment Impaired smooth pursuit Hypocalcemia Dysostosis multiplex Hydrocele testis Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Abnormality of the rib cage Increased vertebral height Vesicoureteral reflux Abnormality of dental enamel Ptosis Synovial hypertrophy Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs Micrognathia Cleft palate Cryptorchidism Intrauterine growth retardation Abnormality of dental structure Downslanted palpebral fissures Atrial septal defect Long philtrum Microphthalmia Abnormality of cardiovascular system morphology Hypospadias Progressive joint destruction Antineutrophil antibody positivity Asthma Polyhydramnios Arachnodactyly Carious teeth Short philtrum Attention deficit hyperactivity disorder Autoimmunity Telecanthus Narrow mouth Abnormality of joint mobility Autism Increased hepatic glycogen content Generalized abnormality of skin Decreased pulmonary function Hypoplastic inferior ilia Abnormality of the ilium Femoral bowing Hypopigmented skin patches Lumbar kyphosis in infancy Dysmetria Broad forehead Neurological speech impairment Hypermetropia Abnormality of the foot Genu valgum Multiple renal cysts Highly arched eyebrow Osteopenia Neurodegeneration Macroglossia Progressive cerebellar ataxia Hypoparathyroidism Delayed myelination Dental malocclusion Respiratory tract infection Kyphoscoliosis Hip dysplasia Abnormal eyelid morphology Atelectasis Myopia Skeletal muscle atrophy Myopathy Cerebellar atrophy Upslanted palpebral fissure Kyphosis Prominent forehead Truncus arteriosus Cerebral atrophy Recurrent infections Hernia Delayed skeletal maturation Recurrent respiratory infections Decreased antibody level in blood Optic disc pallor Schizophrenia Decreased female libido Flat occiput Bowing of the legs Dysphasia Open bite Acne Overfolded helix Neurodevelopmental delay Recurrent bacterial infections Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Increased intracranial pressure Hyperthyroidism Type II diabetes mellitus Abnormal lung lobation Depressed nasal ridge Turricephaly Hypertrichosis Progressive neurologic deterioration Bipolar affective disorder Bowing of the long bones Tall stature Foot polydactyly Amblyopia Gingival overgrowth Limb ataxia Low anterior hairline Narrow palate Posterior embryotoxon Vascular skin abnormality Polydipsia Abnormality of cardiovascular system physiology Short finger Full cheeks Prominent nose Abnormality of the skin Thickened skin Hoarse voice Multiple joint contractures Rhinitis Postnatal growth retardation Protuberant abdomen Papilledema Wrist flexion contracture Mucopolysacchariduria Flared nostrils Expressive language delay Hirsutism Hydromyelia Heparan sulfate excretion in urine Dermoid cyst Mottled pigmentation Cyclopia Clubbing of toes Absence of the sacrum Rectal abscess Exstrophy Sirenomelia Presacral teratoma Sacral lipoma Sacral meningocele Rectal fistula Cloacal exstrophy Hemisacrum Anterior sacral meningocele Thenar muscle atrophy Functional motor deficit Spinal deformities Neutropenia Unsteady gait Abnormality of skin pigmentation Joint hypermobility Hemolytic anemia Hepatic steatosis Metabolic acidosis Aciduria Congenital cataract Memory impairment Pigmentary retinopathy Abnormality of extrapyramidal motor function Pulmonary arterial hypertension Broad-based gait Abnormality of retinal pigmentation Smooth philtrum Lethargy Abnormality of mucopolysaccharide metabolism Abnormality of the Eustachian tube Dermatan sulfate excretion in urine Tonsillitis Recurrent upper and lower respiratory tract infections Incisional hernia Restricted chest movement Abnormality of nasopharyngeal adenoids Ridged cranial sutures Hip dislocation Feeding difficulties Cerebral cortical atrophy Reduced visual acuity Acidosis High forehead Difficulty walking Retinopathy Lower limb undergrowth Bladder exstrophy Slurred speech Hemiparesis Polyneuropathy Coma Migraine Neuronal loss in central nervous system Bilateral sensorineural hearing impairment Cardiomegaly Vasculitis Facial palsy Spastic paraparesis Cachexia Rheumatoid arthritis Cerebral hemorrhage Malnutrition Aphasia Peripheral axonal neuropathy Hyporeflexia Decreased number of peripheral myelinated nerve fibers Lower limb spasticity Pes cavus Proximal muscle weakness Distal muscle weakness Spastic paraplegia Limb muscle weakness Sensory neuropathy Urinary urgency Abnormal brainstem MRI signal intensity Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Impaired distal vibration sensation Impaired distal proprioception Demyelinating motor neuropathy Demyelinating sensory neuropathy Impaired distal tactile sensation Axonal degeneration Amyloidosis Teratoma Lipoma Holoprosencephaly Abnormality of the genitourinary system Tracheoesophageal fistula Hyperostosis Transposition of the great arteries Joint swelling Maternal diabetes Type I diabetes mellitus Chronic constipation Abnormality of tibia morphology Abnormal cortical bone morphology Neurogenic bladder Abnormality of the knee Deviation of finger Spina bifida occulta Meningitis Increased CSF protein Vitreous floaters Multiple myeloma Stroke-like episode Constrictive median neuropathy Sensory ataxia Psychomotor deterioration Orthostatic hypotension due to autonomic dysfunction Cardiac amyloidosis Situs inversus totalis Amyloid deposition in the vitreous humor Diabetes mellitus Joint stiffness Talipes Eczema Omphalocele Large fontanelles Atherosclerosis Ectopia lentis Abnormal endocardium morphology Telangiectasia of the skin Bundle branch block Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Progressive sensorineural hearing impairment Celiac disease Glomerulopathy Emphysema Glycosuria Renal tubular acidosis Wheezing Aortic root aneurysm Abnormality of lipid metabolism Abnormal EKG Loss of consciousness Anhidrosis Transient ischemic attack Chronic kidney disease Progressive hearing impairment Corneal dystrophy Ischemic stroke Reduced bone mineral density Ventricular arrhythmia Easy fatigability Abnormality of the hand Polyuria Glomerulosclerosis Personality changes Clubbing Impaired vibratory sensation Tricuspid regurgitation Diabetes insipidus Xerostomia Renal tubular dysfunction Aortic regurgitation Abnormal thrombosis Periorbital fullness Gastrointestinal dysmotility T-wave inversion Miosis Chronic pain Tubulointerstitial fibrosis Abnormality of the renal tubule Asymmetric septal hypertrophy Dysesthesia Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Abnormal mitral valve morphology High-frequency hearing impairment Edema of the lower limbs Supraventricular tachycardia Tubulointerstitial nephritis Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Large earlobe Heat intolerance Abnormal myocardium morphology Peripheral arterial stenosis Angina pectoris Achalasia Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of the nose Abnormal intestine morphology Ventricular tachycardia Apathy Fatigue Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Edema Decreased methionine synthase activity Dilatation Posteriorly rotated ears Hyperhidrosis Abdominal pain Hyperkeratosis Dyspnea Vitamin B12 deficiency Decreased adenosylcobalamin Hypertrophic cardiomyopathy Right ventricular failure Disproportionate tall stature Thromboembolism Megaloblastic anemia Methylmalonic aciduria Homocystinuria Gastritis Hemolytic-uremic syndrome Hyperhomocystinemia Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Decreased methylcobalamin Carcinoma Abnormality of the kidney Hyperlipidemia Left ventricular hypertrophy Thick lower lip vermilion Atrial fibrillation Myocardial infarction Palpitations Mitral regurgitation Subcutaneous nodule Hypohidrosis Nephrotic syndrome Lymphedema Bradycardia Fasciculations Spontaneous abortion Exercise intolerance Aminoaciduria Ventricular hypertrophy Mitral valve prolapse Developmental regression Delayed puberty Skin rash Stroke Cough Papule Pruritus Nausea and vomiting Vertigo Syncope Nausea Tachycardia Thick vermilion border Muscle cramps Abdominal distention Chest pain Sudden cardiac death Gout



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