Arthritis, and Hyporeflexia

Diseases related with Arthritis and Hyporeflexia

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


Top matches:

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Low 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

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Other less relevant matches:

Low match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

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

Top 5 symptoms//phenotypes associated to Arthritis and Hyporeflexia

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Growth delay Ataxia Generalized hypotonia Pain Visual impairment Muscular hypotonia Nystagmus Global developmental delay Renal insufficiency Seizures Recurrent infections Polyneuropathy Short stature Scoliosis Inguinal hernia Strabismus Gout Abnormality of the dentition Hepatomegaly Neonatal hypotonia Babinski sign Reduced tendon reflexes Muscle weakness Cognitive impairment

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Skin ulcer Narrow palate Dysmetria Pectus carinatum Hypermetropia Neoplasm of the skin Neurological speech impairment Kyphoscoliosis Prominent forehead Hernia Midface retrusion Talipes equinovarus Epicanthus Joint hypermobility Chronic otitis media Hypertelorism Abnormality of the foot Flat occiput Anxiety Open bite Tremor Glomerulopathy Patellar dislocation Hemiplegia/hemiparesis Urticaria Axonal degeneration Cerebral hemorrhage Conjunctivitis Long face Osteoarthritis Amblyopia Anemia Umbilical hernia Mandibular prognathia Joint stiffness Recurrent respiratory infections Depressivity Corneal opacity Kyphosis Behavioral abnormality Dysphagia Blindness Ventriculomegaly Frontal bossing Cryptorchidism Atrioventricular block Cataract Myopathy Immunodeficiency Carious teeth Genu valgum Hematuria Spondylolisthesis Delayed eruption of teeth Abnormality of the sternum Fine hair Delayed skeletal maturation Joint contracture of the hand Tall stature Recurrent bacterial infections Proteinuria Hydrocephalus Hoarse voice Splenomegaly Diabetes mellitus Pes cavus Gliosis Oligosacchariduria Gait disturbance Arnold-Chiari type I malformation Arrhythmia Aggressive behavior Hypertension Peripheral axonal neuropathy Neoplasm Paresthesia Malabsorption Constipation Increased urinary hypoxanthine Arthralgia Progressive visual loss Hyperreflexia Hallucinations Peripheral demyelination Pneumonia Diarrhea Vasculitis Optic atrophy Respiratory insufficiency Visual loss Cardiomyopathy Dysarthria Spasticity Uric acid nephrolithiasis Arthropathy Macrocytic anemia Erythema Alopecia Hyperkeratosis Lipoma Cerebellar hypoplasia Hyperhidrosis Carcinoma Photophobia Sparse hair Meningitis Scarring Thickened skin Sparse eyelashes Knee flexion contracture Elbow flexion contracture Ragged-red muscle fibers Sparse and thin eyebrow Hypohidrosis Abnormality of mitochondrial metabolism Aganglionic megacolon Severe global developmental delay Oral-pharyngeal dysphagia Coronary artery atherosclerosis Nail dysplasia Abnormality of skeletal muscles Ichthyosis Nail dystrophy Multiple lipomas Palmoplantar keratoderma Hyperuricemia Oligomenorrhea Pericardial effusion Skin rash Cough Angioedema Inflammatory abnormality of the eye Uveitis Pruritus Irregular hyperpigmentation Hemoptysis Abnormal heart valve morphology Restrictive ventilatory defect Immunologic hypersensitivity Emphysema Nausea and vomiting Lymphadenopathy Nephritis Pleural effusion Sensory neuropathy Cerebral palsy Cranial nerve paralysis Joint dislocation Ascites Autoimmunity Episcleritis Excessive purine production Neuropathic arthropathy Hyperuricosuria Abnormal aortic morphology High-frequency hearing impairment Hyperlipoproteinemia Lymphoma Hypotelorism Convex nasal ridge Alcoholism Decreased LDL cholesterol concentration Triangular face Abnormality of eye movement Obstructive lung disease Increased HDL cholesterol concentration Abnormal adipose tissue morphology Abdominal pain Wide mouth Abnormality of the nervous system Hyperactivity Dyspnea Hypertonia Myalgia Small vessel vasculitis Complement deficiency Corneal erosion Osteolysis Low anterior hairline Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Heart murmur Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Spastic gait Delusions Limb ataxia Gingival overgrowth Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Hip dysplasia Otitis media Severe sensorineural hearing impairment Impaired smooth pursuit Dental malocclusion Abnormality of the gingiva Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Cranial hyperostosis Dysostosis multiplex Antineutrophil antibody positivity Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Abnormality of dental structure Synovitis Abnormal cornea morphology Abnormality of the rib cage Progressive joint destruction Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Hydrocele testis Decreased antibody level in blood Delayed myelination Scaling skin Hypoplastic fingernail Moderate hearing impairment Insulin resistance Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Furrowed tongue Abnormality of corneal stroma Dystrophic toenail Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Trichiasis Delayed speech and language development Synovial hypertrophy Hepatosplenomegaly Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Confusion Abnormality of the cerebral white matter Flattened moderately deformed vertebrae Broad forehead Respiratory tract infection Mental deterioration Coarse facial features Depressed nasal bridge Skeletal dysplasia Osteopenia Macrotia Gait ataxia Cerebral atrophy Malar flattening Cerebellar atrophy Intellectual disability, severe Short neck Abnormality of the skeletal system Macrocephaly Skeletal muscle atrophy Myopia Corneal ulceration Pathologic fracture Myocardial infarction Ventricular septal defect Arthrogryposis multiplex congenita Dolichocephaly Small for gestational age Abnormal cardiac septum morphology Pes planus Retrognathia Proptosis Brachycephaly Pectus excavatum Dilatation Downslanted palpebral fissures Arachnodactyly High palate Flexion contracture Ptosis Cleft palate Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Smooth philtrum Bruising susceptibility Myelopathy Long palpebral fissure Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Graves disease Cleft soft palate Broad face Aortic dissection Hiatus hernia Soft skin Aortic root aneurysm Celiac disease Bifid uvula Reduced subcutaneous adipose tissue Decreased muscle mass Ectopia lentis Patent foramen ovale Aortic regurgitation Exotropia Mitral regurgitation Blue sclerae Mitral valve prolapse Overgrowth Syncope Abnormal renal physiology Constrictive median neuropathy Increased arm span Recurrent upper respiratory tract infections Headache Congestive heart failure Vomiting Fever Spinal cord posterior columns myelin loss Parietal cortical atrophy Muscle mounding Pancreatic fibrosis Low frustration tolerance Decreased nerve conduction velocity Drooling Weight loss Sensorimotor neuropathy Progressive muscle weakness Tetraplegia Cerebral cortical atrophy Elevated serum creatine phosphokinase Absent speech Vocal cord paresis Progressive peripheral neuropathy Mildly elevated creatine phosphokinase Distal amyotrophy Distal muscle weakness Dementia Facial palsy Stroke-like episode Cachexia Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Aphasia Malnutrition Impotence Rheumatoid arthritis Spastic paraparesis Paraplegia Paraparesis Abnormal autonomic nervous system physiology Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Hypotension Migraine Urinary incontinence Coma Nephropathy Cervical spine instability Failure to thrive Abnormality of the skin Multiple renal cysts Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Joint swelling Lacrimation abnormality Renal tubular acidosis Osteomalacia Abnormal joint morphology Hyperparathyroidism Congenital glaucoma Dysphasia Hypophosphatemia Diabetes insipidus Obsessive-compulsive behavior Hyponatremia Self-injurious behavior Abnormal pupil morphology Abnormality of the renal tubule Rickets Odontogenic neoplasm Muscle cramps Tachycardia Abnormality of the liver Hypothyroidism Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Finger swelling Cheilitis Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Glomerulonephritis Abnormality of the voice Micrognathia Intellectual disability, moderate Delayed puberty Congenital cataract Platyspondyly Hip dislocation Attention deficit hyperactivity disorder Camptodactyly of finger Protruding ear Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Deeply set eye Everted lower lip vermilion EEG abnormality Thin upper lip vermilion Gastroesophageal reflux Acidosis Reduced visual acuity Glaucoma Upslanted palpebral fissure Thrombocytopenia Microphthalmia Long philtrum Feeding difficulties Joint hyperflexibility Metabolic acidosis Hypokalemia Nephrolithiasis Hypercalciuria Deep philtrum Reduced number of teeth Hypercholesterolemia Azoospermia Abnormality of dental enamel Aminoaciduria Nephrocalcinosis Clonus Abnormality of epiphysis morphology Stereotypy Dental crowding Recurrent fractures Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Open mouth Sparse scalp hair Abnormality of the ribs Dehydration Aciduria Increased serum lactate Full cheeks Abnormal bleeding Spinocerebellar tract disease in lower limbs



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