Hepatomegaly, and Pallor

Diseases related with Hepatomegaly and Pallor

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


Top matches:

High match HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME


Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.

HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME Is also known as hpfh-beta-thalassemia syndrome

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Pallor
  • Persistence of hemoglobin F


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME

High match DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2


In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (OMIM ).

DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 Is also known as desiccytosis gardos|xerocytosis gardos

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Jaundice
  • Hepatosplenomegaly


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2

High match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

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Other less relevant matches:

High match ALPHA-THALASSEMIA


Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA

High match HB BART'S HYDROPS FETALIS


Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

High match SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS


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

High match CONGENITAL ATRANSFERRINEMIA


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

High match HYPERINSULINISM DUE TO UCP2 DEFICIENCY


HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

High match X-LINKED SIDEROBLASTIC ANEMIA


X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

High match HYPERINSULINISM DUE TO HNF1A DEFICIENCY


Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Pallor

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Hypochromic microcytic anemia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocytic anemia Microcytic anemia Elevated hepatic transaminase Jaundice

Rare Symptoms - Less than 30% cases


Hypochromic anemia Lethargy Congestive heart failure Hyperinsulinemia Large for gestational age Agitation Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Hypoketotic hypoglycemia Tachycardia Poikilocytosis Anemia of inadequate production Pancreatic islet-cell hyperplasia Abnormality of fatty-acid metabolism Hyperhidrosis Progressive neurologic deterioration Reticulocytosis Growth delay Vomiting Hypothyroidism Coma Anisopoikilocytosis Cirrhosis Diarrhea Seizures Hemolytic anemia Abnormality of the pancreas Abnormality of the cardiovascular system Atransferrinemia Abnormality of the liver Global developmental delay Cognitive impairment Scarring Secondary growth hormone deficiency Pneumonia Hypocholesterolemia Increased body weight Neonatal hypotonia Tremor Intellectual disability Thiamine-responsive megaloblastic anemia Hypolipidemia Abnormality of iron homeostasis Sideroblastic anemia Megaloblastic anemia Vitamin B1 deficiency Glucose intolerance Myelodysplasia Hyperpigmentation of the skin Falls Vertigo Dyspnea Muscle weakness Ataxia Arthritis Increased serum ferritin Recurrent infections Chronic hemolytic anemia Cutaneous syndactyly Short phalanx of finger Small nail Syndactyly Abnormality of the skeletal system Ptosis Short stature Increased mean corpuscular hemoglobin concentration Congenital hemolytic anemia Normocytic anemia Increased total bilirubin Stomatocytosis Acanthocytosis Increased mean corpuscular volume Prolonged neonatal jaundice Cholelithiasis Hyperbilirubinemia Dehydration Abnormal bone structure Persistence of hemoglobin F Anisocytosis Congenital hypoplastic anemia Dysplastic erythropoesis Hypogonadism Decreased transferrin saturation Elevated hepatic iron concentration Increased serum iron Reticulocytopenia Decreased mean corpuscular volume Abnormality of the hypothalamus-pituitary axis Adrenal insufficiency Azoospermia Cafe-au-lait spot Abnormal hemoglobin Erythroid hyperplasia Preeclampsia Pericarditis Hydrops fetalis Oligohydramnios Polyhydramnios Hydrocephalus Reduced alpha/beta synthesis ratio Dark urine Poor appetite Delayed puberty Fasting hypoglycemia



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