Hepatomegaly, and Otitis media

Diseases related with Hepatomegaly and Otitis media

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

Top matches:

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis|cgd

Related symptoms:

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption


SOURCES: ORPHANET MENDELIAN

More info about CHRONIC GRANULOMATOUS DISEASE

IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 Is also known as antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

Other less relevant matches:

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Otitis media

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Immunodeficiency Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Otitis media. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Recurrent otitis media Sinusitis Sepsis Autoimmunity Recurrent bacterial infections IgA deficiency Seizures Lymphadenopathy Failure to thrive Fever IgM deficiency Anemia Abnormality of the liver IgG deficiency Recurrent sinusitis Hemolytic anemia Recurrent pneumonia Decreased antibody level in blood Neutropenia Chronic otitis media Carcinoma Growth delay Hearing impairment Pancytopenia Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Absence of lymph node germinal center Impaired T cell function Global developmental delay Thrombocytopenia Weight loss Eczema Leukoencephalopathy Recurrent lower respiratory tract infections Cirrhosis Recurrent bronchitis Scarring Pneumonia Elevated hepatic transaminase Lymphopenia Purpura Bone marrow hypocellularity Autoimmune thrombocytopenia B lymphocytopenia Short stature Inflammatory abnormality of the skin Chronic diarrhea Bruising susceptibility Lymphoma Pallor Malabsorption Verrucae Gingivitis Bronchiectasis Recurrent opportunistic infections Respiratory failure Conjunctivitis Neoplasm Neurological speech impairment Decrease in T cell count Severe combined immunodeficiency Meningitis Absent tonsils Abnormality of humoral immunity Abnormal neutrophil count Severe B lymphocytopenia Erysipelas Lack of T cell function Macronodular cirrhosis Acute myeloid leukemia Anti-thyroid peroxidase antibody positivity Reduced red cell adenosine deaminase activity Absent specific antibody response Immunoglobulin IgG2 deficiency Scoliosis Hypertelorism Granulocytopenia Abnormal facial shape Delayed speech and language development Wide nasal bridge Abnormality of the dentition Behavioral abnormality Short nose Intellectual disability Diffuse mesangial sclerosis Cortical sclerosis Abnormality of pelvic girdle bone morphology Abnormality of the skeletal system Respiratory tract infection Platyspondyly Inguinal hernia Asthma Acute leukemia Hepatitis Hypercoagulability Myeloid leukemia Eosinophilia Cellulitis Recurrent upper respiratory tract infections Combined immunodeficiency Aplasia of the thymus Myeloproliferative disorder Malnutrition Autoimmune hemolytic anemia B-cell lymphoma Recurrent viral infections Allergy Cellular immunodeficiency Increased IgE level Pulmonary insufficiency Hypertension Recurrent fungal infections Anterior rib cupping Abnormality of the optic nerve Abnormal cortical bone morphology Delayed skeletal maturation Increased bone mineral density Apnea Craniosynostosis Narrow chest Abnormality of movement Delayed eruption of teeth Recurrent fractures Abnormal blistering of the skin Abnormality of the ribs Pulmonary arterial hypertension Abnormality of the metaphysis Bowing of the long bones Abnormality of epiphysis morphology Bone pain Hypocalcemia Abnormality of metabolism/homeostasis Cranial nerve paralysis Reduced bone mineral density Hypophosphatemia Reticulocytosis Abnormality of visual evoked potentials Pulmonary artery stenosis Osteopetrosis Premature loss of primary teeth Chronic rhinitis Abnormality of hair texture Abnormality of temperature regulation Abnormal pulmonary valve morphology Optic nerve compression Facial palsy Hydrocephalus Mandibular prognathia Abnormal vertebral morphology Coarse facial features Umbilical hernia Pes planus Arthritis Joint stiffness Pectus carinatum Microtia Carious teeth Thick vermilion border Dyskinesia Sleep disturbance Macroglossia Gingival overgrowth Thickened calvaria Tremor Abnormality of the ulna Macroorchidism Beaking of vertebral bodies Leukocytosis Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Aspartylglucosaminuria Nystagmus Visual impairment Optic atrophy Macrocephaly Prolonged bleeding time Decreased liver function Myelodysplasia IgE deficiency Cholangitis Stomatitis Chronic hepatitis Dysgammaglobulinemia Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Enlarged tonsils Agranulocytosis Opportunistic infection Impaired memory B cell generation Hepatocellular carcinoma Brachycephaly Arthralgia Anal atresia Vasculitis Abnormal intestine morphology Failure to thrive in infancy Emphysema Restrictive ventilatory defect Bronchitis Lymphoproliferative disorder Gastrointestinal stroma tumor Recurrent infection of the gastrointestinal tract Agammaglobulinemia Encephalitis Humoral immunodeficiency Chronic obstructive pulmonary disease Gastroesophageal reflux Skin rash Cough Increased body weight Oral ulcer Failure to thrive secondary to recurrent infections Cutaneous photosensitivity Skin ulcer Pyloric stenosis Tracheoesophageal fistula Hypermelanotic macule Macule Inflammatory abnormality of the eye Involuntary movements Mediastinal lymphadenopathy Abnormality of neutrophils Liver abscess Thyroiditis Recurrent sinopulmonary infections Follicular hyperplasia Gastrointestinal carcinoma Cognitive impairment Dysarthria Neurodegeneration Choreoathetosis Clumsiness Autoimmune neutropenia Posterior pharyngeal cleft Intracranial hemorrhage Edema Hyperlipidemia Progressive hearing impairment Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Sensorineural hearing impairment Epicanthus Fatigue Respiratory insufficiency Cerebellar atrophy Progressive muscle weakness Syndactyly Visual loss Leukemia Nausea and vomiting Vertigo Hematuria Tapered finger Migraine Webbed neck Hypotelorism Lymphedema Leukopenia Hepatic fibrosis Hypertriglyceridemia Generalized hypotonia Elevated serum creatine phosphokinase Muscle weakness Pain Depressed nasal bridge Skeletal muscle atrophy Anteverted nares Cardiomyopathy Myopathy Congestive heart failure Intellectual disability, mild Malar flattening Midface retrusion Obesity Thin upper lip vermilion Ventricular hypertrophy Hypoglycemia Deeply set eye Proximal muscle weakness Myalgia Hypertrophic cardiomyopathy Thin vermilion border Hepatic failure Distal amyotrophy Broad nasal tip Full cheeks Cardiomegaly Epistaxis Opsoclonus


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