Hepatomegaly, and Hypothyroidism

Diseases related with Hepatomegaly and Hypothyroidism

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

Top matches:

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS Is also known as severe congenital hypochromic sideroblastic anemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Other less relevant matches:

Medium match AA AMYLOIDOSIS

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

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 HAWKINSINURIA

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.

HAWKINSINURIA Is also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|4-hppd deficiency|4-hydroxyphenylpyruvic acid dioxygenase deficiency

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HAWKINSINURIA

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypothyroidism

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Adrenal insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Cholestasis Abnormal lung morphology Abnormality of the liver Chronic diarrhea Elevated hepatic transaminase Splenomegaly Fatigue

Rare Symptoms - Less than 30% cases

Severe failure to thrive Abnormal intestine morphology Pneumonia Malabsorption Hepatic failure Nephrotic syndrome Diabetes mellitus Respiratory insufficiency Generalized hypotonia Chronic lung disease Cirrhosis Type I diabetes mellitus Diarrhea Recurrent infections Pallor Metabolic acidosis Hypochromic microcytic anemia Hypochromic anemia Microcytic anemia Hepatosplenomegaly Atopic dermatitis Iron deficiency anemia Thyroiditis Inflammatory abnormality of the skin Constipation Autoimmune hemolytic anemia Increased antibody level in blood Psoriasiform dermatitis Gingivitis Ophthalmoplegia Limb muscle weakness Antinuclear antibody positivity Recurrent bacterial infections IgA deficiency Astigmatism Eczema Cardiomegaly Exercise intolerance Progressive external ophthalmoplegia Amblyopia Congenital nephrotic syndrome Left ventricular hypertrophy Immunodeficiency Ventricular hypertrophy Alopecia Lower limb muscle weakness Recurrent respiratory infections Oligohydramnios Increased serum lactate Respiratory tract infection Lymphadenopathy Hemolytic anemia External ophthalmoplegia Esophagitis Irritability Recurrent viral infections Respiratory failure Global developmental delay Abnormal facial shape Low-set ears Macrocephaly Frontal bossing Clinodactyly Posteriorly rotated ears Proptosis Abnormality of tyrosine metabolism Camptodactyly Autoimmunity Dolichocephaly Asthma Hepatitis Short chin Relative macrocephaly Prominent occiput 4-Hydroxyphenylacetic aciduria 4-Hydroxyphenylpyruvic aciduria Villous atrophy Encephalopathy Immune dysregulation Decrease in T cell count Bronchiolitis Recurrent fungal infections Granulocytopenia Chronic hemolytic anemia Microcephaly Muscular hypotonia Sparse hair Fructose intolerance Fine hair Tachypnea Renal tubular acidosis Anisocytosis Spherocytosis Hypertyrosinemia Body odor Chronic metabolic acidosis Elevated serum creatine phosphokinase Decreased circulating cortisol level Myopathy Interstitial pulmonary abnormality Dyspnea Cough Lactic acidosis Hepatic steatosis Decreased liver function Aminoaciduria Clubbing Alveolar proteinosis Motor delay Abnormal heart morphology Abdominal pain Proteinuria Abnormality of the kidney Nausea Nephropathy Hypotension Ventricular tachycardia Respiratory distress Atransferrinemia Chronic kidney disease Reticulocytopenia Hypogonadism Cafe-au-lait spot Azoospermia Increased serum ferritin Abnormality of the hypothalamus-pituitary axis Poikilocytosis Decreased mean corpuscular volume Increased serum iron Abnormality of the pancreas Anisopoikilocytosis Elevated hepatic iron concentration Decreased transferrin saturation Dysplastic erythropoesis Congestive heart failure Arthritis Scarring Abnormality of the cardiovascular system Venous thrombosis Atrioventricular block Cardiomyopathy Gonadotropin deficiency Hyperinsulinemia Hyponatremia Polyphagia Neonatal hypoglycemia Adrenal hypoplasia Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Red hair Hyperbilirubinemia Hypoglycemic seizures Central adrenal insufficiency Increased adipose tissue Childhood-onset truncal obesity Abnormal eating behavior Muscle weakness Ptosis Peripheral neuropathy Acanthosis nigricans Increased body weight Malnutrition Cardiac amyloidosis Amyloidosis Acute kidney injury Enlarged kidney Abnormal renal physiology Abnormal echocardiogram Abnormal oral mucosa morphology Renal amyloidosis Abnormal cardiac ventricle morphology Hepatic amyloidosis Growth hormone deficiency Seizures Obesity Delayed skeletal maturation Agenesis of corpus callosum Weight loss Hypoglycemia Delayed puberty Hypopigmentation of the skin Interstitial pneumonitis


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