Arthritis, and Hypertonia

Diseases related with Arthritis and Hypertonia

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


Top matches:

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 DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

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Other less relevant matches:

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

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 RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

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

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Top 5 symptoms//phenotypes associated to Arthritis and Hypertonia

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperuricemia Generalized hypotonia Gout Global developmental delay Rheumatoid arthritis Motor delay Paraplegia Scoliosis Hypothyroidism Flexion contracture Nephropathy Anemia Seizures Muscle weakness Hyperreflexia Ataxia Peripheral neuropathy Strabismus Intellectual disability, mild Behavioral abnormality

Rare Symptoms - Less than 30% cases


Prominent forehead Spastic diplegia Spastic paraparesis Cerebral palsy Pneumonia Focal dystonia Paraparesis Glaucoma Kyphoscoliosis Areflexia Arrhythmia Abnormality of the skeletal system Hyperuricosuria Excessive purine production Hip dislocation Peripheral axonal neuropathy Polyneuropathy Nephrolithiasis Abnormality of the dentition Irritability Sensorineural hearing impairment Mandibular prognathia Recurrent infections Vomiting Dysarthria Epicanthus Pain Muscular hypotonia Cardiomyopathy Abnormality of extrapyramidal motor function Diabetes mellitus Hyperlordosis Hypertension Tremor Talipes equinovarus Dystonia Urinary incontinence Fever Spastic gait Diarrhea Spastic paraplegia Impaired vibration sensation in the lower limbs Rigidity Nystagmus Dementia Pes cavus Babinski sign Hematuria Abnormality of movement Recurrent otitis media Cardiomegaly Cerebral calcification Hepatitis Bilateral sensorineural hearing impairment Spastic tetraplegia Hemiparesis Tetraplegia Lumbar hyperlordosis Encephalitis Abnormal lung morphology Combined immunodeficiency Gliosis Migraine Hypotension Hypermelanotic macule Neuronal loss in central nervous system Restrictive ventilatory defect Metaphyseal irregularity Rhizomelia Nephritis Peripheral demyelination Systemic lupus erythematosus Hemolytic anemia Purpura Recurrent bacterial infections Hallucinations Atrioventricular block Vasculitis Sensory ataxia Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Axonal degeneration Psychomotor deterioration Scleroderma Orthostatic hypotension Decreased number of peripheral myelinated nerve fibers Abnormal renal physiology Amyloid deposition in the vitreous humor Myelopathy Amyloidosis Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Cardiac amyloidosis Low-set ears Lymphadenopathy Autoimmunity Abnormal autonomic nervous system physiology Syringomyelia Cachexia Cerebral hemorrhage Micromelia Abnormality of the cerebral white matter Platyspondyly Respiratory tract infection Aphasia Arthralgia Skeletal dysplasia Severe short stature Impotence Recurrent respiratory infections Thrombocytopenia Immunodeficiency Malnutrition Urinary retention Hypopigmented skin patches on arms Basal ganglia calcification Nasal speech Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Hypoplasia of the brainstem Congenital contracture Pterygium Adducted thumb Malignant hyperthermia Spina bifida occulta Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Distal arthrogryposis Trismus Talipes Edema Pulmonary edema Atopic dermatitis Aortic valve stenosis Mitral regurgitation Inflammatory abnormality of the skin Dry skin Hyperkeratosis Abnormal facial shape Breech presentation Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Flat face Arthrogryposis multiplex congenita Autoimmune hemolytic anemia Cellular immunodeficiency Paresthesia Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Hypertelorism Immune dysregulation Juvenile rheumatoid arthritis Barrel-shaped chest Narrow nose Irregular vertebral endplates Vitiligo Autoimmune thrombocytopenia Recurrent sinusitis Microcephaly Failure to thrive Small for gestational age Malar flattening Blepharophimosis Postnatal growth retardation Camptodactyly Telecanthus Deeply set eye Narrow mouth Inguinal hernia Long philtrum Micrognathia Short nose Cerebellar atrophy Myopathy Short neck Wide nasal bridge High palate Ptosis Cryptorchidism Coma Glomerulopathy Malabsorption Writer's cramp Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Oromandibular dystonia Decreased CSF homovanillic acid Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Generalized dystonia Limb dystonia Hyperactive deep tendon reflexes Resting tremor Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Gaze-evoked nystagmus Stereotypy Self-mutilation Opisthotonus Athetosis Proximal placement of thumb Oral-pharyngeal dysphagia Self-injurious behavior Finger clinodactyly Recurrent urinary tract infections Delayed speech and language development Clumsiness Choreoathetosis Chorea Aggressive behavior Clinodactyly of the 5th finger Clinodactyly Dysphagia Lower limb hyperreflexia Brisk reflexes Dyslexia Urinary urgency Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Progressive spastic paraplegia Lower limb spasticity Abnormal brainstem MRI signal intensity Sensory neuropathy Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Proximal muscle weakness Hemiplegia/hemiparesis Intellectual disability, moderate Impaired distal tactile sensation Gait disturbance Postural tremor Abnormal cerebellum morphology Obsessive-compulsive behavior Dysphonia Torticollis Horizontal nystagmus Involuntary movements Bradykinesia Parkinsonism Sleep disturbance Fatigue Confusion Abnormal pyramidal sign Anxiety Difficulty walking Gait ataxia Encephalopathy Depressivity Megaloblastic anemia Testicular atrophy Facial palsy Elevated serum creatinine Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Exocrine pancreatic insufficiency Reduced sperm motility Renal cell carcinoma Proportionate short stature Acute kidney injury Glycosuria Hypoplasia of the uterus Glucose intolerance Unilateral renal agenesis Renal Fanconi syndrome Renal cortical cysts Pyloric stenosis Abnormality of alkaline phosphatase activity Weight loss Constipation Hyporeflexia Headache Congestive heart failure Hydrocephalus Visual impairment Atretic vas deferens Multiple glomerular cysts Abnormality of endocrine pancreas physiology Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Polydipsia Chronic kidney disease Facial grimacing Abnormality of eye movement Abnormal aortic morphology High-frequency hearing impairment Arnold-Chiari type I malformation Hypotelorism Convex nasal ridge Triangular face Dysmetria Hypermetropia Abnormality of skeletal muscles Neurological speech impairment Wide mouth Abnormality of the nervous system Hyperactivity Growth delay Podagra Bladder stones Increased urinary hypoxanthine Uric acid nephrolithiasis Multicystic kidney dysplasia Stage 5 chronic kidney disease Horseshoe kidney Renal dysplasia Renal hypoplasia Renal agenesis Renal cyst Hepatic steatosis Hirsutism Joint hyperflexibility Hypospadias Infertility Abnormality of the liver Abnormality of the kidney Proteinuria Elevated hepatic transaminase Jaundice Cerebral cortical atrophy Calcification of the aorta



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