Arthritis, and Alopecia

Diseases related with Arthritis and Alopecia

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


Top matches:

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

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 SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

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Other less relevant matches:

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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 NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Top 5 symptoms//phenotypes associated to Arthritis and Alopecia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Pericarditis Neoplasm Rheumatoid arthritis Hearing impairment Diarrhea Fever Gangrene Brachydactyly Weight loss Scoliosis Autoimmunity Malabsorption Stroke Meningitis Osteopenia Erythema Blindness Vasculitis Visual loss Skin ulcer Scarring Delayed skeletal maturation Anemia

Rare Symptoms - Less than 30% cases


Intellectual disability Memory impairment Osteoarthritis Sensorineural hearing impairment Cellulitis Visual impairment Cerebral ischemia Arterial thrombosis Raynaud phenomenon Retinopathy Carcinoma Abnormal joint morphology Telangiectasia Hepatitis Encephalitis Gait disturbance Hepatic failure Abnormality of the skeletal system Epididymitis Hypogonadism Aseptic necrosis Hyperlordosis Arrhythmia Recurrent infections Splenomegaly Pleuritis Short metacarpal Conjunctivitis Keratoconjunctivitis sicca Skin rash Thrombocytopenia Hypogonadotrophic hypogonadism Delayed eruption of teeth Nail dystrophy Renal insufficiency Severe short stature Kyphosis Edema Carious teeth Myelopathy Nausea and vomiting Fine hair Scaling skin Epiphora Inflammatory abnormality of the skin Ichthyosis Hypotrichosis Papule Platyspondyly Pleural effusion Genu valgum Dilatation Vertigo Paresthesia Cough Joint stiffness Hyperhidrosis Myalgia Seizures Chronic diarrhea Headache Depressivity Photophobia Anorexia Sparse hair Dental malocclusion Smooth philtrum Paraplegia Sparse lateral eyebrow Flat capital femoral epiphysis Spastic paraplegia Bulbous nose Pseudohypoparathyroidism Avascular necrosis of the capital femoral epiphysis Thin nail Concave nail Leukonychia Microdontia Thin eyebrow Progressive spastic paraplegia Spastic ataxia Sparse scalp hair Narrow palate Scapular winging Spondylolisthesis Short metatarsal Deep philtrum Cone-shaped epiphysis Slow-growing hair Short finger Infantile muscular hypotonia Skeletal muscle atrophy Pectus carinatum Peripheral neuropathy Diabetes insipidus Ophthalmoparesis Diplopia Epistaxis Optic disc pallor Sudden cardiac death Hematuria Conductive hearing impairment Optic atrophy Ptosis Elevated erythrocyte sedimentation rate Muscle weakness Nystagmus Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature Visual field defect Aortic dissection Protruding ear Jaw claudication Low-set, posteriorly rotated ears Thin upper lip vermilion Pes planus Macrotia Posteriorly rotated ears Recurrent respiratory infections Long philtrum Dysarthria Micrognathia Generalized hypotonia Retinal arteritis Abnormal thrombocyte morphology Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Arteritis Glossitis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Mediastinal lymphadenopathy Abnormality of the pleura Recurrent pharyngitis Pear-shaped nose Otitis media Cone-shaped epiphyses of the middle phalanges of the hand Aortic regurgitation Pulmonary embolism Hemoptysis Glomerulopathy Blurred vision Inflammation of the large intestine Acne Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Pancreatitis Pustule Subcutaneous nodule Mitral regurgitation Hemiparesis Myocardial infarction Abnormal blistering of the skin Gastrointestinal hemorrhage Migraine Chest pain Lymphadenopathy Confusion Uveitis Pulmonary infiltrates Irritability Anterior uveitis Decreased level of D-mannose in urine Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Optic neuritis Myositis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Oral ulcer Endocarditis Alopecia areata Stomatitis Recurrent aphthous stomatitis Abnormal myocardium morphology Abnormal pyramidal sign Developmental regression Abnormally low-pitched voice Pneumonia Lymphopenia Sinusitis Recurrent urinary tract infections Abnormal lung morphology Irregular carpal bones Decreased antibody level in blood Sepsis Neutropenia Dementia Rod-cone dystrophy Encephalopathy Hypocalcemia Immunodeficiency Myopathy Delayed speech and language development Failure to thrive Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Recurrent pneumonia Recurrent bacterial infections Dyspnea Septic arthritis Reduced visual acuity Glaucoma Behavioral abnormality Hyperreflexia Cataract Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Abnormality of the tonsils Recurrent cutaneous abscess formation Hypopigmented skin patches Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Agammaglobulinemia Glossoptosis Bronchitis Osteomyelitis Chronic otitis media Recurrent skin infections Limited hip extension Short long bone Flared femoral metaphysis Dilated cardiomyopathy Azoospermia Insulin resistance Hepatic fibrosis Hyperpigmentation of the skin Cardiomegaly Amenorrhea Ascites Hepatic steatosis Cirrhosis Abnormality of the liver Arthropathy Elevated hepatic transaminase Diabetes mellitus Osteoporosis Congestive heart failure Cardiomyopathy Hepatomegaly Serositis Malar rash Complement deficiency Antiphospholipid antibody positivity Impotence Osteomalacia Hashimoto thyroiditis Constrictive pericarditis Palmoplantar keratoderma Severe global developmental delay Hyperkeratosis Pes cavus Cerebellar hypoplasia Abnormality of the dentition Cryptorchidism Elevated transferrin saturation Aceruloplasminemia Cholangiocarcinoma Hepatocellular carcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Increased serum ferritin Antinuclear antibody positivity Epiphyseal stippling Progressive visual loss Flexion contracture Cachexia Abnormal intestine morphology Bowing of the long bones Postural instability Nausea Kyphoscoliosis Hypothyroidism Vomiting Short neck Abnormal perifollicular morphology Scleroderma Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Atopic dermatitis Aplasia/Hypoplasia of the skin Spinal muscular atrophy Sparse eyebrow Malnutrition Thoracic kyphosis Autoimmune thrombocytopenia Purpura Thyroiditis Autoimmune hemolytic anemia Abnormality of the thyroid gland Increased antibody level in blood Abnormality of coagulation Glomerulonephritis Nephritis Systemic lupus erythematosus Leukopenia Cutaneous photosensitivity Thoracolumbar scoliosis Psychosis Abnormality of the skin Hemolytic anemia Midface retrusion Cognitive impairment Intestinal polyp Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Nail dysplasia Aganglionic megacolon Cervical cord compression Hyperinsulinemia Abnormality of the hip bone Limited elbow extension Flared metaphysis Bowing of the legs Spondyloepiphyseal dysplasia Metaphyseal irregularity Rickets Metaphyseal widening Epiphyseal dysplasia Genu varum Metaphyseal dysplasia Pectus excavatum Disproportionate short-limb short stature Abnormal vertebral morphology Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Type II diabetes mellitus Lumbar hyperlordosis Bilateral sensorineural hearing impairment Limb undergrowth Disproportionate short stature Spinal canal stenosis Growth hormone deficiency Decreased serum estradiol Cervical instability Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Hamartomatous polyposis Carpal bone hypoplasia Ulnar deviation of the hand Small epiphyses Hypoplasia of the odontoid process Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Enlarged joints Multiple epiphyseal dysplasia Beaking of vertebral bodies Delayed epiphyseal ossification Genu recurvatum Upper limb undergrowth Insulin-resistant diabetes mellitus Waddling gait Short foot Thickened skin Absent eyebrow Corneal erosion Abnormal eyelash morphology Alopecia of scalp Severe hearing impairment Macule Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Hemiplegia/hemiparesis Hypoplastic toenails Keratitis Furrowed tongue Congenital sensorineural hearing impairment Urticaria Reduced tendon reflexes Neoplasm of the skin Osteolysis Sparse eyelashes Knee flexion contracture Elbow flexion contracture Sparse and thin eyebrow Hypohidrosis Dystrophic toenail Hypoplastic fingernail Sensory neuropathy Trichiasis Short distal phalanx of finger Short palm Micromelia Joint hyperflexibility Delayed puberty Joint laxity Skeletal dysplasia Intellectual disability, mild Growth delay Abnormality of corneal stroma Moderate hearing impairment Oral leukoplakia Corneal ulceration 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 Hypopyon



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