Arthritis, and Hypopigmentation of the skin

Diseases related with Arthritis and Hypopigmentation of the skin

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


Top matches:

Low match MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

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

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Other less relevant matches:

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 SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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 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 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 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Top 5 symptoms//phenotypes associated to Arthritis and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Arthralgia 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 Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Fatigue Thrombocytopenia Purpura Hyperpigmentation of the skin Immunodeficiency Global developmental delay Hypothyroidism Rheumatoid arthritis Visual impairment Cardiomyopathy Increased serum ferritin Impotence Cirrhosis Splenomegaly Abnormality of the liver Autoimmunity Abdominal pain Abnormal lung morphology Arrhythmia Fever Scarring Hypertension Depressivity Seizures

Rare Symptoms - Less than 30% cases


Elevated hepatic transaminase Chronic otitis media Alopecia Hypopigmented skin patches Weight loss Respiratory distress Lymphadenopathy Recurrent infections Neutropenia Intellectual disability, mild Diarrhea Lymphopenia Hypocalcemia Amenorrhea Hemolytic anemia Encephalitis Congestive heart failure Hepatomegaly Generalized hyperpigmentation Congenital hepatic fibrosis Juvenile rheumatoid arthritis Glaucoma Immune dysregulation Edema Recurrent bacterial infections Abnormality of the tonsils Increased serum iron Ataxia Failure to thrive Hepatitis Hypogonadotrophic hypogonadism Low-set ears Pneumonia Intellectual disability Scleroderma Blindness Emphysema Macular edema Strabismus Abnormality of the dentition Renal insufficiency Skeletal dysplasia Myalgia Joint swelling Papule Subcutaneous nodule Hyperthyroidism Skeletal muscle atrophy Portal hypertension Pallor Iridocyclitis Poikilocytosis Scoliosis Hypertelorism Micrognathia Abnormal facial shape Muscular hypotonia Cleft palate Cryptorchidism Vitreous floaters Ptosis Abnormal conjunctiva morphology Epicanthus Wide nasal bridge Retinal pigment epithelial atrophy Vitritis Ventricular septal defect Hydrocephalus Decreased mean corpuscular volume Short neck Abnormality of the lymph nodes Talipes equinovarus Abnormality of the adrenal glands Chorioretinitis Intrauterine growth retardation Elliptocytosis Downslanted palpebral fissures Dacryocystitis Anterior uveitis Abnormal salivary gland morphology Optic atrophy Microcephaly Abnormal reproductive system morphology Myopia Non-caseating epithelioid cell granulomatosis Nyctalopia Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Photoreceptor layer loss on macular OCT Increased T cell count Abnormality of skin pigmentation Abnormal cardiac ventricular function Parotitis Hepatic steatosis Abnormal liver parenchyma morphology Ring scotoma Abnormality of skin morphology Limitation of joint mobility Decreased serum iron Abnormality of T cell physiology Behavioral abnormality Osteoarthritis Optic disc pallor Retinal atrophy Epiretinal membrane Enlargement of parotid gland Hepatic fibrosis Anisocytosis Joint dislocation Glucose intolerance Posterior vitreous detachment Atrial septal defect Anxiety Long philtrum Atelectasis Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Varicose veins Platybasia Abnormal eyelid morphology Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Small earlobe Arrhinencephaly Foot polydactyly Diabetes mellitus Elevated transferrin saturation Abnormality of the anterior pituitary Abnormality of iron homeostasis Arthropathy Azoospermia Infertility Delayed puberty Lethargy Dilated cardiomyopathy Hypogonadism Impaired T cell function Osteoporosis Muscle weakness Occipital myelomeningocele Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Posterior embryotoxon Bowel incontinence Malar flattening Gastroesophageal reflux Carious teeth Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Feeding difficulties in infancy Telecanthus Generalized lymphadenopathy Conductive hearing impairment Umbilical hernia Polyhydramnios Anal atresia Narrow mouth Autism Upslanted palpebral fissure Constipation Inguinal hernia Patent ductus arteriosus Hypospadias Obesity Abnormality of cardiovascular system morphology Microphthalmia Joint hyperflexibility Arachnodactyly Dysphasia Abnormality of dental enamel Acne Overfolded helix Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Schizophrenia Spina bifida Long face Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Asthma Bulbous nose Skin plaque Inflammation of the large intestine Erythema nodosum Spastic tetraplegia Combined immunodeficiency Spastic diplegia Metaphyseal irregularity Nephritis Systemic lupus erythematosus Rhizomelia Recurrent otitis media Lumbar hyperlordosis Cerebral calcification Hypermelanotic macule Tetraplegia Micromelia Abnormality of the cerebral white matter Platyspondyly Respiratory tract infection Hyperlordosis Kyphoscoliosis Severe short stature Restrictive ventilatory defect Basal ganglia calcification Abnormality of the skeletal system Madelung deformity Myopathy Delayed speech and language development Sensorineural hearing impairment Neoplasm Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Decrease in T cell count Autoimmune hemolytic anemia Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Barrel-shaped chest Narrow nose Irregular vertebral endplates Vitiligo Autoimmune thrombocytopenia Recurrent sinusitis Recurrent respiratory infections Spasticity Encephalopathy Geographic atrophy Palmoplantar keratoderma Craniosynostosis Joint stiffness Flexion contracture Macular hemorrhage Foveal hypopigmentation Polypoidal choroidal vasculopathy Macular drusen Choroidal neovascularization Nevus Drusen Gout Macular degeneration Abnormality of the cardiovascular system Progressive visual loss Stroke Reduced visual acuity Visual loss Recurrent fractures Abnormality of the metaphysis Abnormal axial skeleton morphology Abnormal cortical bone morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Osteopoikilosis Abnormal bone structure Generalized limb muscle atrophy Abnormal aortic morphology Generalized osteosclerosis Generalized hypopigmentation Abnormality of epiphysis morphology Atypical scarring of skin Cutaneous finger syndactyly Multiple lipomas Hyperostosis Flat occiput Hemangioma Hoarse voice Bone pain Lymphedema Dilatation Rod-cone dystrophy Abnormality of the cerebrospinal fluid Hypercalciuria Chorioretinal atrophy Increased antibody level in blood Blurred vision Pulmonary fibrosis Diabetes insipidus Epiphora Pleural effusion Hypercalcemia Eosinophilia Interstitial pulmonary abnormality Ventricular tachycardia Leukopenia Osteolysis Nephrocalcinosis Decreased liver function Anorexia Bronchiectasis Nephrolithiasis Elevated erythrocyte sedimentation rate Abnormality of the musculature Pancytopenia Bone cyst Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Skin nodule Upper airway obstruction Hyperuricemia Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Uveitis Optic neuropathy Hemoptysis Keratoconjunctivitis sicca Palpitations Syncope Dementia Skin ulcer Glossoptosis Bronchitis Cellulitis Osteomyelitis Recurrent skin infections Conjunctivitis Recurrent pneumonia Meningitis Sinusitis Cor pulmonale Telangiectasia Chronic diarrhea Recurrent urinary tract infections Otitis media Decreased antibody level in blood Sepsis Malabsorption Skin rash Retinopathy Agammaglobulinemia Myelopathy Sudden cardiac death Headache Chest pain Hepatic failure Cough Erythema Facial palsy Proximal muscle weakness Photophobia Dyspnea Peripheral neuropathy Abnormality of the lymphatic system Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of endocrine pancreas physiology



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