Arthritis, and Fatigue

Diseases related with Arthritis and Fatigue

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


Top matches:

Low match FAMILIAL COLD URTICARIA


Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Low match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME


Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.

PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME Is also known as familial recurrent arthritis|papa syndrome|fra

Related symptoms:

  • Fever
  • Fatigue
  • Arthralgia
  • Arthritis
  • Proteinuria


SOURCES: ORPHANET MENDELIAN

More info about PYOGENIC ARTHRITIS-PYODERMA GANGRENOSUM-ACNE SYNDROME

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Other less relevant matches:

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3


Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5


Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 Is also known as multiple epiphyseal dysplasia, matn3-related|polyepiphyseal dysplasia type 5|microepiphyseal dysplasia, bilateral hereditary|edm5|bhmed|med5|bilateral hereditary micro-epiphyseal dysplasia

Related symptoms:

  • Short stature
  • Pain
  • Gait disturbance
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME


NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.

NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME Is also known as familial cold autoinflammatory syndrome type 2|naps12|fcas2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NLRP12-ASSOCIATED HEREDITARY PERIODIC FEVER SYNDROME

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Top 5 symptoms//phenotypes associated to Arthritis and Fatigue

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Increased serum ferritin Osteoarthritis Limitation of joint mobility Cirrhosis Abnormality of the liver Sensorineural hearing impairment Myalgia

Rare Symptoms - Less than 30% cases


Urticaria Knee pain Erythema Waddling gait Epiphyseal dysplasia Multiple epiphyseal dysplasia Small epiphyses Irregular epiphyses Genu valgum Lymphadenopathy Coxa vara Skin rash Splenomegaly Vomiting Cardiomyopathy Hearing impairment Headache Impotence Lymphopenia Scarring Joint swelling Delayed eruption of teeth Seizures Optic neuritis Malar rash Limb pain Muscle cramps Neuritis Lower limb pain Generalized muscle weakness Lymphocytosis Elevated C-reactive protein level Recurrent aphthous stomatitis Episodic fever Hypophosphatemic rickets Leukocytosis Bilateral sensorineural hearing impairment Chest pain Bone pain Elevated alkaline phosphatase Hypercalciuria Hyperparathyroidism Rickets Intellectual disability Increased serum iron Bowing of the legs Osteomalacia Spinal canal stenosis Congenital hepatic fibrosis Abnormality of the dentition Abnormality of the lower limb Generalized hyperpigmentation Glucose intolerance Joint dislocation Hepatic fibrosis Hepatic steatosis Arrhythmia Respiratory distress Cataract Scoliosis Diffuse alveolar hemorrhage Secretory diarrhea Failure to thrive Disseminated intravascular coagulation Enterocolitis Colitis Hypophosphatemia Abnormality of the coagulation cascade Decreased liver function Craniosynostosis Dolichocephaly Pancytopenia Carious teeth Tachycardia Diarrhea Loss of consciousness Hypoplasia of the capital femoral epiphysis Purpura Abnormality of the cardiovascular system Crohn's disease Myositis Pustule Increased antibody level in blood Acne Type I diabetes mellitus Skin ulcer Proteinuria Atransferrinemia Hypochromic anemia Hypochromic microcytic anemia Abnormality of the pancreas Microcytic anemia Pallor Muscle weakness Hypothyroidism Pneumonia Recurrent infections Congestive heart failure Hepatomegaly Growth delay Dysesthesia Polydipsia Conjunctivitis Dehydration Nausea and vomiting Pruritus Hyperhidrosis Increased inflammatory response Myopathy Hypogonadotrophic hypogonadism Genu varum Hyperpigmentation of the skin Amenorrhea Neutropenia Elevated hepatic transaminase Delayed tarsal ossification Flattened femoral head Arthralgia of the hip Premature osteoarthritis Hip pain Delayed ossification of carpal bones Broad femoral neck Short femoral neck Metaphyseal irregularity Coxa valga Elevated serum creatine phosphokinase Hip dysplasia Joint stiffness Abnormality of the skeletal system Gait disturbance Abnormality of the hip joint Delayed epiphyseal ossification Mildly elevated creatine phosphokinase Mild short stature Easy fatigability Short metacarpal Lower limb muscle weakness Limb muscle weakness Proximal muscle weakness Difficulty walking Renal phosphate wasting



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

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