Immunodeficiency, and Pancreatitis

Diseases related with Immunodeficiency and Pancreatitis

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Medium match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Other less relevant matches:

Medium match PROPIONIC ACIDEMIA

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

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

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Pancreatitis

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neutropenia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Pancreatitis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Anemia Decreased antibody level in blood Growth delay Cardiomyopathy Global developmental delay Neoplasm Splenomegaly Dehydration Respiratory distress Diabetes mellitus Exocrine pancreatic insufficiency Pancytopenia Short stature Recurrent respiratory infections Elevated hepatic transaminase Eczema Respiratory tract infection Malabsorption Seizures Diarrhea Delayed skeletal maturation Generalized hypotonia Fever Bronchiectasis Scoliosis Vomiting Coma Renal insufficiency Dystonia Lethargy Stroke Muscular hypotonia Hyperammonemia

Rare Symptoms - Less than 30% cases

Aplastic anemia Metabolic acidosis Nephropathy Acidosis Respiratory insufficiency Metaphyseal chondrodysplasia Congestive heart failure Hyperlordosis Postural instability Abdominal pain IgA deficiency Short thorax Metaphyseal widening Short ribs Abnormality of the metaphysis Cor pulmonale Hypertension Aciduria Feeding difficulties Hyperglycinemia Osteoporosis Constipation Osteopenia Arrhythmia Lymphopenia Cerebellar hemorrhage Methylmalonic aciduria Optic atrophy Organic aciduria Metaphyseal dysostosis Ketonuria Macrocytic anemia Ischemic stroke Leukopenia Chronic lung disease Accelerated skeletal maturation Abnormality of the pancreas Asthma Leukemia Type I diabetes mellitus Cirrhosis Abnormality of the skeletal system Nausea and vomiting Abnormal lung morphology Insulin resistance Lymphoma Nephrocalcinosis Carcinoma Choreoathetosis Skeletal dysplasia Tachypnea Pectus carinatum Portal hypertension Clubbing Narrow chest Steatorrhea Respiratory failure Pneumonia Dilatation Low-set, posteriorly rotated ears Generalized lymphadenopathy IgM deficiency Visual impairment Brain neoplasm Depressed nasal bridge Cognitive impairment Follicular hyperplasia Sparse hair Strabismus Abnormal cardiac septum morphology Joint laxity Interstitial pneumonitis Immune dysregulation EEG abnormality Severe short stature Macrotia Brachycephaly Epicanthus Prominent forehead Narrow sacroiliac notch Wide nasal bridge Myopia Anteverted nares Short neck Gastritis Alopecia Irregular ossification at anterior rib ends Specific learning disability Verrucae Acute myeloid leukemia Sepsis Arthrogryposis multiplex congenita Apraxia Generalized muscle weakness Decreased liver function Ichthyosis Bone marrow hypocellularity Recurrent bacterial infections Coxa vara Myelodysplasia Neonatal respiratory distress Multiple lipomas Carious teeth Myeloid leukemia Small for gestational age Proximal femoral epiphysiolysis Enlargement of the costochondral junction Burkitt lymphoma Recurrent bacterial skin infections Myocardial necrosis Gait disturbance Microdontia Proximal femoral metaphyseal irregularity Intellectual disability, mild Recurrent viral infections Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Recurrent aphthous stomatitis Acute monocytic leukemia Ovoid vertebral bodies Disproportionate short-limb short stature Hypotrichosis Aplasia/Hypoplasia affecting the eye Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Aplasia/Hypoplasia of the abdominal wall musculature Large face B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Hypersplenism Spinal dysraphism Esophageal atresia Impaired lymphocyte transformation with phytohemagglutinin Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Non-Hodgkin lymphoma Congenital hypoplastic anemia Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Distal arthrogryposis Hypoplasia of the odontoid process Joint hyperflexibility Blue sclerae Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Depressed nasal ridge Fine hair Lumbar hyperlordosis Sparse and thin eyebrow Abnormality of the ribs Convex nasal ridge Gastrointestinal hemorrhage Hypopigmentation of the skin Small hand Short palm Joint hypermobility Micromelia Gingival overgrowth Hypocalcemia Anal stenosis Mesomelia Hodgkin lymphoma Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Squamous cell carcinoma Sparse eyelashes Cone-shaped epiphysis Genu varum Abnormality of pelvic girdle bone morphology Clubbing of fingers Sacral dimple Reduced tendon reflexes Abnormal palate morphology Neoplasm of the skin Villous atrophy Secondary amenorrhea Autoimmune thrombocytopenia Abnormality of the kidney Delayed CNS myelination Tubulointerstitial nephritis Spastic tetraparesis Paraparesis Tetraparesis Stage 5 chronic kidney disease Neurological speech impairment Fatigue Methylmalonic acidemia Ataxia Microscopic nephrocalcinosis Echogenic fetal bowel Cellular metachromasia Biliary tract obstruction Elevated sweat chloride Absent vas deferens Homocystinuria Tubulointerstitial abnormality Recurrent bronchopulmonary infections Lactic acidosis Episodic vomiting Ketoacidosis Ketosis Limb hypertonia Poor appetite Abnormality of immune system physiology Overgrowth Developmental regression Abnormal globus pallidus morphology Feeding difficulties in infancy Apnea Muscular hypotonia of the trunk Hypoglycemia Encephalopathy Cerebral atrophy Metabolic ketoacidosis Chronic metabolic acidosis Obstructive azoospermia Meconium ileus Hyperglycinuria Infertility Hypercalciuria Azoospermia Recurrent pneumonia Sinusitis Abdominal distention Dyskinesia Nausea Delayed puberty Emphysema Cough Scarring Abnormality of the liver Gastroesophageal reflux Pain Anorexia Abnormality of movement Dysarthria Intestinal obstruction Pulmonary fibrosis Pancreatic adenocarcinoma Pneumothorax Productive cough Obstructive lung disease Secretory diarrhea Chronic pancreatitis Chronic infection Nasal polyposis Rectal prolapse Ileus Malnutrition Biliary cirrhosis Allergy Chronic obstructive pulmonary disease Neoplasm of the pancreas Hemoptysis Wheezing Bronchitis Male infertility Acute encephalopathy Increased level of hippuric acid in urine Fatigable weakness Generalized lipodystrophy Congenital generalized lipodystrophy Abnormal levels of creatine kinase in blood Abnormal oral cavity morphology Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Prolonged QTc interval Arterial stenosis Hypothyroidism Bone cyst Exercise-induced myalgia Prominent superficial veins Broad foot Oligomenorrhea Progressive proximal muscle weakness Growth hormone excess Glomerulopathy Abnormality of skeletal muscle fiber size Hepatosplenomegaly Lipoatrophy Abnormal intestine morphology Recurrent sinusitis Autoimmune hemolytic anemia Colitis Interstitial pulmonary abnormality Combined immunodeficiency Inflammation of the large intestine Recurrent upper respiratory tract infections Purpura Arthritis Conjunctivitis Chronic diarrhea Recurrent otitis media Inflammatory abnormality of the skin Otitis media Hemolytic anemia Lymphadenopathy Autoimmunity Spinal rigidity Skeletal muscle hypertrophy Propionyl-CoA carboxylase deficiency Myalgia Recurrent fractures Hepatic steatosis Hirsutism Hepatic failure Abnormality of skin pigmentation Abnormality of the foot Hypertrophic cardiomyopathy Mandibular prognathia Epidermal acanthosis Hyperhidrosis Myopathy Ventriculomegaly Peripheral neuropathy Flexion contracture Muscle weakness Propionicacidemia Intolerance to protein Growth hormone deficiency Pulmonary arterial hypertension Large hands Acanthosis nigricans Lipodystrophy Hyperinsulinemia Precocious puberty Prominent supraorbital ridges Pyloric stenosis Polycystic ovaries Atherosclerosis Generalized hirsutism Ventricular hypertrophy Muscle stiffness Abnormality of the hair Bradycardia Thickened skin Palpitations Myocardial infarction Atrial fibrillation Hypertriglyceridemia Recurrent urinary tract infections


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