Arthritis, and Paralysis

Diseases related with Arthritis and Paralysis

In the following list you will find some of the most common rare diseases related to Arthritis and Paralysis 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 ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

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Other less relevant matches:

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Low 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

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Top 5 symptoms//phenotypes associated to Arthritis and Paralysis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Visual impairment Visual loss Strabismus Nystagmus Sensorineural hearing impairment Growth delay Scoliosis Global developmental delay Short stature Rheumatoid arthritis Fever

Rare Symptoms - Less than 30% cases


Hematuria Hypertension Stroke Retinopathy Arthralgia Headache Fatigue Abdominal pain Respiratory distress Abnormality of the liver Cardiomyopathy Renal insufficiency Sensory neuropathy Depressivity Hypothyroidism Otitis media Spasticity Impaired vibration sensation in the lower limbs Paraplegia Pes cavus Babinski sign Hyperreflexia Gout Macular edema Venous thrombosis Abnormality of skin pigmentation Intellectual disability, moderate Cranial nerve paralysis Ataxia Behavioral abnormality Myopia Pain Nyctalopia Optic atrophy Proptosis Dilatation Muscle weakness Genu valgum Abnormality of the skeletal system Tremor Micrognathia Macrocephaly Mandibular prognathia Blindness Hypertelorism Distal muscle weakness Hoarse voice Thrombocytopenia Recurrent infections Tapetoretinal degeneration Iris atrophy Thick hair Facial hypotonia Bone spicule pigmentation of the retina Recurrent aphthous stomatitis Abnormality of the larynx Deep venous thrombosis Furrowed tongue Mildly elevated creatine phosphokinase Macrodontia Aplasia/Hypoplasia of the earlobes Misalignment of teeth Hyperplasia of the maxilla Bull's eye maculopathy Macrodontia of permanent maxillary central incisor Abnormality of the foot Distal amyotrophy Hyperuricemia Hemiplegia/hemiparesis Abnormality of movement Intellectual disability, mild Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Prominent eyelashes Granulocytopenia Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Congenital neutropenia Vocal cord paralysis Ectodermal dysplasia Microglossia Exotropia Recurrent skin infections Leukopenia Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Long eyelashes Reduced number of teeth Tall stature Clumsiness Open mouth Lumbar hyperlordosis High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Pigmentary retinopathy Laryngomalacia Short metatarsal Gingivitis Abnormality of the hip bone Dementia Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Truncal obesity Precocious puberty Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Progressive peripheral neuropathy Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Hyporeflexia Lower limb muscle weakness Proximal muscle weakness Abnormality of the eye Homocystinuria CNS demyelination Dysdiadochokinesis Aortic regurgitation Anorexia Hepatitis Peripheral demyelination Abnormality of eye movement Abnormality of the nervous system Hypermethioninemia Dystonia Cognitive impairment Hyperapobetalipoproteinemia Tuberous xanthoma Episodic hemolytic anemia Abnormality of the integument Accelerated atherosclerosis Chronic hemolytic anemia Premature coronary artery atherosclerosis Hypertyrosinemia Halitosis Xanthelasma Postural tremor Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Focal dystonia Generalized dystonia Limb dystonia Lower limb hyperreflexia Brisk reflexes Obsessive-compulsive behavior Talipes equinovarus Torticollis Horizontal nystagmus Abnormality of extrapyramidal motor function Bradykinesia Parkinsonism Sleep disturbance Anxiety Rigidity Gait ataxia Giant platelets Macrothrombocytopenia Spastic paraplegia Impaired temperature sensation Retinal atrophy Optic disc pallor Pallor Dysphagia Abnormal brainstem MRI signal intensity Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired distal vibration sensation Juvenile rheumatoid arthritis Myopathy Progressive spastic paraplegia Urinary urgency Spastic gait Lower limb spasticity Urinary incontinence Convex nasal ridge Areflexia Limb muscle weakness Anisocytosis Poikilocytosis Increased mean platelet volume Hyperbilirubinemia Hypersplenism Stomatocytosis Impaired platelet aggregation Xanthomatosis Spinal cord compression Reticulocytosis Coronary artery atherosclerosis Hypercholesterolemia Atherosclerosis Abnormality of the cardiovascular system Retinal pigment epithelial atrophy Abnormal bleeding Hemolytic anemia Splenomegaly Photoreceptor layer loss on macular OCT Ring scotoma Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Progressive visual loss Neutropenia Aciduria Epistaxis Conjunctivitis Vasculitis Meningitis Skin ulcer Sinusitis Diplopia Subcutaneous nodule Myocardial infarction Gastrointestinal hemorrhage Pancreatitis Chest pain Abnormality of the dentition Nephropathy Immunodeficiency Paresthesia Nausea and vomiting Papule Cough Skin rash Purpura Hydrocephalus Proteinuria Glomerulopathy Chronic obstructive pulmonary disease Tracheal stenosis Myositis Gangrene Pulmonary infiltrates Hemoptysis Wheezing Pericarditis Elevated erythrocyte sedimentation rate Hemiplegia Petechiae Restrictive ventilatory defect Pulmonary fibrosis Diabetes insipidus Intestinal obstruction Stridor Chronic otitis media Pleural effusion Glomerulonephritis Autoimmunity Hydronephrosis Concave nasal ridge Recurrent fractures Osteopetrosis Aseptic necrosis Rhinitis Osteomyelitis Hyperostosis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Joint dislocation Facial paralysis Hypocalcemia Bone marrow hypocellularity Increased bone mineral density Bone pain Lymphedema Abnormality of epiphysis morphology Recurrent urinary tract infections Abnormality of the metaphysis Osteoarthritis Abnormal cranial nerve morphology Generalized osteosclerosis Myalgia Short distal phalanx of finger Dyspnea Weight loss Pneumonia Recurrent respiratory infections Arrhythmia Hepatosplenomegaly Facial palsy Respiratory insufficiency Carious teeth Neurodegeneration Extramedullary hematopoiesis Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Cranial hyperostosis Hip osteoarthritis Fractures of the long bones Angina pectoris Cerebral ischemia Growth hormone deficiency Respiratory tract infection Severe global developmental delay Neurological speech impairment Finger syndactyly Small for gestational age Prominent nasal bridge Short philtrum Wide mouth Protruding ear Postnatal growth retardation Delayed puberty Feeding difficulties in infancy Joint laxity Neonatal hypotonia Thin upper lip vermilion Pes planus Retrognathia Kyphoscoliosis Macrotia Gastroesophageal reflux Synophrys Joint hyperflexibility Diabetes mellitus Small hand Prominent nose Short metacarpal Hypoplasia of the maxilla Microcornea Pancytopenia Single transverse palmar crease Tapered finger Highly arched eyebrow Retinal detachment High, narrow palate Smooth philtrum Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Joint hypermobility Vocal cord paresis Retinal degeneration Arachnodactyly Astigmatism Reduced visual acuity Rod-cone dystrophy Abnormality of the nose Granulomatosis Scleritis Increased inflammatory response Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Endocarditis Neuritis Pleuritis Prostatitis Subglottic stenosis Ocular pain Rhinorrhea Periorbital edema Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Recurrent intrapulmonary hemorrhage Generalized hypotonia Cerebellar hypoplasia Intrauterine growth retardation Clinodactyly of the 5th finger Pectus excavatum Obesity Hernia Microphthalmia Malar flattening Kyphosis Ventricular septal defect Downslanted palpebral fissures Frontal bossing Microcephaly Depressed nasal bridge Motor delay High palate Ptosis Cryptorchidism Cataract Muscular hypotonia Abnormal facial shape Failure to thrive Paresis of extensor muscles of the big toe



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Low-set, posteriorly rotated ears, related diseases and genetic alterations

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