Anemia, and Type I diabetes mellitus

Diseases related with Anemia and Type I diabetes mellitus

In the following list you will find some of the most common rare diseases related to Anemia and Type I diabetes mellitus that can help you solving undiagnosed cases.


Top matches:

Medium match IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY


Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Medium match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Medium match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

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Other less relevant matches:

Medium match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Medium match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Medium match MULTIPLE INTESTINAL ATRESIA


Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Medium match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Medium match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Medium match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Medium match WOLFRAM SYNDROME 1; WFS1


Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011).Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (OMIM ) as well as a Wolfram syndrome-like phenotype (OMIM ) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. Genetic Heterogeneity of Wolfram SyndromeWolfram syndrome-2 (WFS2 ) is caused by mutation in the CISD2 gene (OMIM ) on chromosome 4q24.

WOLFRAM SYNDROME 1; WFS1 Is also known as diabetes insipidus and mellitus with optic atrophy and deafness|wfs|didmoad

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about WOLFRAM SYNDROME 1; WFS1

Top 5 symptoms//phenotypes associated to Anemia and Type I diabetes mellitus

Symptoms // Phenotype % cases
Autoimmunity Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Common - Between 50% and 80% cases
Abnormal intestine morphology Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Type I diabetes mellitus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Diabetes mellitus

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism

Common Symptoms - More than 50% cases


Hemolytic anemia

Uncommon Symptoms - Between 30% and 50% cases


Inflammatory abnormality of the skin Thyroiditis Growth delay Eczema Thrombocytopenia Recurrent infections Lymphadenopathy Villous atrophy Hepatosplenomegaly Immune dysregulation Recurrent respiratory infections Pneumonia Hepatitis Depressivity Arthritis Ataxia Decreased antibody level in blood Intrauterine growth retardation Lymphopenia Failure to thrive Hashimoto thyroiditis Autoimmune thrombocytopenia Congestive heart failure Delayed puberty Inflammation of the large intestine Fatigue Short stature IgA deficiency Psoriasiform dermatitis Abdominal distention Chronic diarrhea Abnormal lung morphology Respiratory tract infection Alopecia Sepsis

Rare Symptoms - Less than 30% cases


Gastrointestinal atresia Congenital cystic adenomatoid malformation of the lung Jejunoileal ulceration Rectal abscess Neurodegeneration Peritoneal abscess Abnormality of the ductus choledochus Respiratory failure Combined immunodeficiency Seizures Rigidity Bloody diarrhea Celiac disease Ectopic calcification Interstitial pneumonitis Omphalocele Intestinal malrotation Nail dystrophy Sparse hair Polyhydramnios Ventricular septal defect Primary hypothyroidism Intestinal atresia Alopecia of scalp Colitis Interstitial pulmonary abnormality Neutropenia Severe combined immunodeficiency Arthralgia Hypoplasia of the thymus Leukoencephalopathy Thickened skin Dementia Tremor Abnormality of the coagulation cascade Malnutrition Lymphoma Dilatation Absent eyebrow Cognitive impairment Anxiety Decrease in T cell count Chronic lung disease Dysarthria Recurrent upper respiratory tract infections Purpura Bronchiectasis Atopic dermatitis Iron deficiency anemia Behavioral abnormality Weight loss Splenomegaly Exocrine pancreatic insufficiency Otitis media Brain neoplasm Clubbing of fingers Pancytopenia Fatigable weakness Conjunctivitis Recurrent otitis media Recurrent sinusitis Clubbing Cor pulmonale Verrucae Generalized lymphadenopathy IgM deficiency Generalized osteoporosis Carcinoma Encephalitis Patent foramen ovale Pulmonary embolism Osteopenia Dilatation of the cerebral artery Abnormality of the endocrine system Chronic mucocutaneous candidiasis Enterocolitis Gastritis B lymphocytopenia Antiphospholipid antibody positivity Renovascular hypertension Renal artery stenosis Global developmental delay Burkitt lymphoma Follicular hyperplasia Pulmonary arterial hypertension Delayed skeletal maturation Peripheral neuropathy Autoimmune neutropenia Central apnea Hypergonadotropic hypogonadism Sleep apnea Anosmia Abnormality of the urinary system Diabetes insipidus Hydroureter Blurred vision Polyphagia Atrophy/Degeneration affecting the brainstem Severe sensorineural hearing impairment Dyschromatopsia Megaloblastic anemia Neurogenic bladder Pigmentary retinopathy Stroke-like episode Testicular atrophy Histiocytosis Central diabetes insipidus Respiratory arrest Pollakisuria Sideroblastic anemia Abnormal glucose tolerance Gastric ulcer Central sleep apnea Diffuse leukoencephalopathy Impaired collagen-induced platelet aggregation Psychosis Dehydration Functional abnormality of the bladder Ptosis Carotid artery dilatation Recurrent Aspergillus infections Susceptibility to herpesvirus Oropharyngeal squamous cell carcinoma Esophageal carcinoma Medial calcification of large arteries Abnormal serum interferon-gamma level Intellectual disability Hearing impairment Nystagmus Sensorineural hearing impairment Cataract Optic atrophy Vesicoureteral reflux Dysphagia Cardiomyopathy Blindness Cerebral atrophy Constipation Myoclonus Hypogonadism Hydronephrosis Abnormality of the nervous system Aggressive behavior Apnea Abnormal bleeding Asthma Abnormality of the skeletal system Neoplasm Chorea Hypertonia Dystonia Gait ataxia Difficulty walking Poor speech Confusion Retinal degeneration Cirrhosis Parkinsonism Memory impairment Delayed speech and language development Abnormality of extrapyramidal motor function Involuntary movements Torticollis Cerebral palsy Hyperkinesis Slurred speech Polyuria Muscle fibrillation Increased serum ferritin Blepharospasm Respiratory distress Spasticity Scanning speech Chronic hemolytic anemia Respiratory insufficiency Recurrent bacterial infections Increased antibody level in blood Gingivitis Antinuclear antibody positivity Esophagitis Recurrent viral infections Bronchiolitis Recurrent fungal infections Granulocytopenia Nephrotic syndrome Secretory diarrhea Cardiac arrest Eosinophilia Nephritis Erythroderma Hyperglycemia Abnormality of the thyroid gland Ketoacidosis Ileus Pancreatic hypoplasia Intractable diarrhea Cogwheel rigidity Refractory anemia Vitamin B12 deficiency Steatorrhea Malabsorption Infertility Polyneuropathy Nevus Cerebral calcification Hypoplasia of dental enamel Hypocalcemia Spontaneous abortion Rickets Macrocytic anemia Irritability Thrombocytosis Chronic fatigue Prolonged partial thromboplastin time Stomatitis Recurrent aphthous stomatitis Prolonged prothrombin time Abnormality of the abdominal wall Folate deficiency Vitamin D deficiency Vitamin K deficiency Postnatal growth retardation Elevated hepatic transaminase Decreased serum ceruloplasmin Scarring Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Pain Abnormality of the dentition Leukemia Scleroderma Recurrent ear infections Recurrent abscess formation Hepatomegaly Small for gestational age Abdominal pain Anal atresia Abnormality of abdomen morphology Hematochezia Duodenal atresia Duodenal stenosis Microcolon Jejunal atresia Decreased proportion of CD8-positive T cells Vomiting Osteoporosis Limited mobility of proximal interphalangeal joint



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