Arthritis, and Malabsorption

Diseases related with Arthritis and Malabsorption

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


Top matches:

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

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Other less relevant matches:

Low match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Low match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Low match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

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 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Malabsorption

Symptoms // Phenotype % cases
Pain Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Constipation Renal insufficiency Arrhythmia Hepatomegaly Seizures Nausea and vomiting Fever Vomiting Skin rash Paresthesia Gingival overgrowth Gastroesophageal reflux Scleroderma Muscle weakness Osteolysis Myalgia Fatigue Abdominal pain Rheumatoid arthritis Nausea

Rare Symptoms - Less than 30% cases


Inguinal hernia Ascites Nephrocalcinosis Abnormality of the dentition Osteoporosis Chronic kidney disease Limitation of joint mobility Encephalitis Anemia Ptosis Gastrointestinal hemorrhage Abnormal cortical bone morphology Elevated erythrocyte sedimentation rate Hearing impairment Sleep disturbance Meningitis Recurrent respiratory infections Epicanthus Chronic otitis media Failure to thrive Hypertelorism Nystagmus Keratoconjunctivitis sicca Osteomyelitis Migraine Acidosis Pes planus Umbilical hernia Antinuclear antibody positivity Osteoarthritis Sensorineural hearing impairment Vasculitis Coarse facial features Carious teeth Flexion contracture Nephropathy Edema Headache Amyloidosis Chronic diarrhea Cachexia Stiff neck Hypertension Dysphagia Congestive heart failure Weight loss Malnutrition Telangiectasia Xerostomia Telangiectasia of the skin Skin ulcer Abnormality of amino acid metabolism Hyperkalemia Abnormal vertebral morphology Thickened calvaria Abnormality of the ulna Leukocytosis Macroorchidism Recurrent meningitis Beaking of vertebral bodies Inflammation of the large intestine Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Intestinal obstruction Purpura Systemic lupus erythematosus Abnormal facial shape Pancreatitis Aspartylglucosaminuria Ataxia Spasticity Visual impairment Peripheral neuropathy Dysarthria Tremor Hydrocephalus Intellectual disability Orchitis Macroglossia Dyskinesia Renal amyloidosis Mandibular prognathia Pleuritis Synovitis Behavioral abnormality Decreased circulating aldosterone level Erysipelas Short nose Wide nasal bridge Delayed speech and language development Cardiomyopathy Delayed skeletal maturation Peritonitis Anemia of inadequate production Oral leukoplakia Congenital hypoplastic anemia Joint stiffness Acute hepatic failure Edema of the lower limbs Pectus carinatum Gout Microtia Serositis Increased serum ferritin Gastrointestinal infarctions Episodic fever Pericarditis Neurological speech impairment Thick vermilion border Azotemia Short stature Areflexia Mitral valve prolapse Hyperextensible skin Decreased nerve conduction velocity Abnormal palate morphology Joint dislocation Wormian bones Subcutaneous nodule Thin skin Microdontia Decreased fertility Abdominal distention Joint hypermobility Vertigo Joint hyperflexibility Abnormality of the foot Hip dislocation Apnea Elbow dislocation Keratoconus Depressivity Ascending tubular aorta aneurysm Cystocele Tendon rupture Premature rupture of membranes Arterial dissection Anorectal anomaly Abnormality of the gingiva Abnormality of the menstrual cycle Venous insufficiency Striae distensae Gastrointestinal dysmotility Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the wrist Atypical scarring of skin Acrocyanosis Gingivitis Soft skin Aortic root aneurysm Joint laxity Dilatation Hyporeflexia Neuronal loss in central nervous system Paraparesis Abnormal autonomic nervous system physiology Hallucinations Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Peripheral demyelination Hypotension Cerebral hemorrhage Urinary incontinence Gliosis Coma Polyneuropathy Peripheral axonal neuropathy Paraplegia Facial palsy Dementia Spastic paraparesis Impotence Amyloid deposition in the vitreous humor Myelopathy Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Constrictive median neuropathy Aphasia Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Atrioventricular block Male infertility Myocardial infarction Lichenification Calcinosis cutis Palmar telangiectasia Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Abnormality of the gastric mucosa Biliary cirrhosis High palate Esophageal varix Calcinosis Raynaud phenomenon Irregular hyperpigmentation Steatorrhea Elevated alkaline phosphatase Hyperbilirubinemia Generalized abnormality of skin Immunodeficiency Cirrhosis Bronchiectasis Cellulitis Recurrent skin infections Conjunctivitis Recurrent bacterial infections Recurrent pneumonia Sinusitis Recurrent otitis media Recurrent infections Hepatitis Dehydration Decreased antibody level in blood Sepsis Neutropenia Cough Pneumonia Cholestasis Pruritus Recurrent sinusitis Platyspondyly Thoracolumbar scoliosis Thoracic kyphosis Abnormal intestine morphology Bowing of the long bones Postural instability Genu valgum Nail dystrophy Mucopolysacchariduria Kyphoscoliosis Hypothyroidism Severe short stature Alopecia Kyphosis Short neck Brachydactyly Protein-losing enteropathy Peripheral edema Abnormality of the liver Dyspareunia Elevated hepatic transaminase Jaundice Respiratory insufficiency Abnormal bowel sounds Narrow foramen obturatorium Hypertensive crisis Decreased urine output Oliguria Intestinal polyp Osteolytic defects of the phalanges of the hand Pulmonary infiltrates Pulmonary fibrosis Pulmonary arterial hypertension Abnormality of the skin Autoimmunity Dyspnea Bronchitis External ear malformation Nephrotic syndrome Ankylosis Tetany Chondrocalcinosis Enuresis Oligospermia Hypomagnesemia Hypoparathyroidism Amelogenesis imperfecta Enuresis nocturna Abnormality of lipid metabolism Acute kidney injury Renal tubular acidosis Hyperuricemia Polyuria Polydipsia Hypercalciuria Persistence of primary teeth Chorioretinitis Nephrolithiasis Proteinuria Asthma Chest pain Stage 5 chronic kidney disease Lymphadenopathy Erythema Abnormality of the kidney Hepatosplenomegaly Hyposthenuria Impaired urinary acidification Hypocitraturia Renal calcium wasting Medullary nephrocalcinosis Hypermagnesiuria Renal magnesium wasting Renal potassium wasting Hypocalcemia Recurrent urinary tract infections Agammaglobulinemia Abnormality of epiphysis morphology Genu varum Cerebral palsy Neoplasm of the skin Abnormality of the fingernails Gynecomastia Bone pain Thickened skin Aseptic necrosis Palmoplantar keratoderma Small hand Hyperhidrosis Recurrent enteroviral infections Crohn's disease B lymphocytopenia Verrucae Acne Joint swelling Hematuria Clubbing of toes Astigmatism Infertility Hypermetropia Feeding difficulties in infancy Myopia Strabismus Impaired temperature sensation Cutis gyrata of scalp Growth hormone excess Abnormality of bone marrow cell morphology Eczematoid dermatitis Abnormal hair quantity Peptic ulcer Seborrheic dermatitis Abnormal hair pattern Neoplasm of the lung Genital hernia



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