Arthritis, and Respiratory insufficiency

Diseases related with Arthritis and Respiratory insufficiency

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


Top matches:

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

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Other less relevant matches:

Low match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

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

Low match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Low match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Top 5 symptoms//phenotypes associated to Arthritis and Respiratory insufficiency

Symptoms // Phenotype % cases
Respiratory failure Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay 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 Respiratory insufficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pneumonia Seizures Intellectual disability Immunodeficiency Splenomegaly Edema Growth delay Jaundice Anemia Hearing impairment Vomiting

Rare Symptoms - Less than 30% cases


Arthralgia Keratoconjunctivitis sicca Gout Dysphagia Hepatomegaly Failure to thrive IgG deficiency Diarrhea Hyperkeratosis Hepatosplenomegaly Dry skin Pulmonary fibrosis Antinuclear antibody positivity Ascites Dehydration Premature birth Ataxia Nystagmus Small for gestational age Neoplasm Motor delay Respiratory distress Recurrent respiratory infections Hypertension Otitis media Recurrent upper respiratory tract infections Polycythemia Headache Muscle cramps Corneal opacity Chondrocalcinosis Fatigue Rickets Hypercalcemia Elevated serum creatine phosphokinase Sensorineural hearing impairment Proptosis Generalized hypotonia Myalgia Hemolytic anemia Telangiectasia Absent speech Tachycardia Hypotension Growth hormone deficiency Chest pain Muscular hypotonia Neonatal hypotonia Cognitive impairment Visual impairment Generalized muscle weakness Cerebral cortical atrophy Polyhydramnios Visual loss Babinski sign Generalized abnormality of skin Peripheral neuropathy Hyporeflexia Hyperreflexia Optic atrophy Intellectual disability, mild Areflexia Recurrent infections Anorexia Secondary hyperaldosteronism Abnormality of prostaglandin metabolism Hypokalemic metabolic alkalosis Hyperphosphatemia Hypomagnesemia Hyperkalemia Renal salt wasting Periarticular subcutaneous nodules Alkalosis Abnormality of the retinal vasculature Polyuria Metabolic alkalosis Increased circulating renin level Respiratory arrest Hypocalciuria Glomerulonephritis Impaired reabsorption of chloride Hypokalemic alkalosis Hypercalciuria Abnormal choroid morphology Hypokalemia Nephrocalcinosis Azotemia Increased urinary potassium Renal potassium wasting Hyperactive renin-angiotensin system Hyperchloriduria Abnormal sclera morphology Hyperaldosteronism Hypocalcemia Aggressive behavior Parietal cortical atrophy Tetraplegia Irritability Demyelinating peripheral neuropathy IgM deficiency Conjunctival telangiectasia Generalized lymphadenopathy Elevated alpha-fetoprotein Enuresis nocturna Intraventricular hemorrhage Increased sensitivity to ionizing radiation Neonatal asphyxia Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Kyphosis Osteoporosis Abnormality of the eye Joint stiffness Hoarse cry Laryngomalacia Juvenile rheumatoid arthritis Nonimmune hydrops fetalis Joint swelling Weak cry Decreased muscle mass Rheumatoid arthritis Abnormality of vision Psychomotor deterioration Spontaneous abortion Hoarse voice Hydrops fetalis Decreased liver function Subcutaneous nodule Nephropathy Recurrent viral infections Cherry red spot of the macula Progressive visual loss Muscle mounding Gait disturbance Abnormal facial shape Microcephaly Spinal cord posterior columns myelin loss Histiocytosis Increased urinary hypoxanthine Pancreatic fibrosis Palmar telangiectasia Low frustration tolerance Arnold-Chiari type I malformation Decreased nerve conduction velocity Drooling Sensorimotor neuropathy Progressive muscle weakness Abdominal pain Weight loss Mild global developmental delay Restrictive ventilatory defect Chronic sinusitis Episodic fever IgA deficiency Recurrent sinusitis Bronchitis Interstitial pulmonary abnormality Emotional lability Erythema Scaling skin Recurrent pneumonia Clumsiness Abnormal lung morphology Specific learning disability Abnormality of the cerebral white matter Calcinosis cutis Abnormality of the liver Lip telangiectasia Follicular hyperkeratosis Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Hyperhidrosis Photophobia Autoimmunity Papule Epidermal acanthosis Chronic diarrhea Keratitis Atrophic scars Autoimmune hemolytic anemia Thyroiditis Uveitis Villous atrophy Exercise-induced muscle cramps Corneal neovascularization Increased IgA level Polyarticular arthritis Comedo Punctate keratitis Congestive heart failure Carcinoma Respiratory tract infection Carious teeth Neutropenia Lymphoma Decreased antibody level in blood Recurrent urinary tract infections Bronchiectasis Exercise-induced myoglobinuria Gastric ulcer Meningitis Muscle weakness Feeding difficulties Abnormality of the dentition Constipation Brachycephaly Craniosynostosis Waddling gait Bone pain Increased intracranial pressure Osteomalacia Premature loss of teeth Papilledema Chronic pain Premature loss of primary teeth Pulmonary insufficiency Flexion contracture Increased total bilirubin Cardiomyopathy Blindness Myopathy Nausea and vomiting Limb muscle weakness Nausea Cerebral visual impairment Exercise intolerance Easy fatigability Cholelithiasis Reticulocytosis Myoglobinuria Nonspherocytic hemolytic anemia Dark urine Sinusitis Recurrent bacterial infections Sclerodactyly Hyperbilirubinemia Hearing abnormality Lack of skin elasticity Congenital nonbullous ichthyosiform erythroderma Hypergranulosis Eclabion Gastroesophageal reflux Elevated hepatic transaminase Skin rash Pruritus Cirrhosis Gastrointestinal hemorrhage Cholestasis Skin ulcer Encephalitis Foot polydactyly Elevated alkaline phosphatase Steatorrhea Elevated erythrocyte sedimentation rate Telangiectasia of the skin Scleroderma Irregular hyperpigmentation Xerostomia Raynaud phenomenon Calcinosis Esophageal varix Biliary cirrhosis Lichenification Abnormality of the gastric mucosa Mucosal telangiectasiae Malignant hyperthermia Congenital ichthyosiform erythroderma Leukocytosis Bone marrow hypercellularity Combined immunodeficiency Osteomyelitis Cellulitis Periodontitis B-cell lymphoma Verrucae Atelectasis Abnormality of female internal genitalia Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Hypersegmentation of neutrophil nuclei Myelokathexis Short finger Cataract Rigidity Ichthyosis Everted lower lip vermilion Sepsis Sudden cardiac death Limitation of joint mobility Depressed nasal ridge Thickened skin Recurrent skin infections Hand polydactyly Ectropion Self-injurious behavior Erythroderma Lipogranulomatosis



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