SLC4A1 gene related symptoms and diseases

All the information presented here about the SLC4A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC4A1 gene

Symptoms // Phenotype % Cases
Jaundice Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Cholelithiasis Rare - less than 30% cases
Anemia Rare - less than 30% cases
Splenomegaly Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with SLC4A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Elliptocytosis
  • Spherocytosis
  • Reticulocytosis
  • Hyperbilirubinemia
  • Short stature
  • Hypocalcemia
  • Nephrocalcinosis
  • Hypercalciuria

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC4A1 gene

Here you will find a list of rare diseases related to the SLC4A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY SPHEROCYTOSIS


Alternate names

HEREDITARY SPHEROCYTOSIS Is also known as sph, hs, minkowski-chauffard disease, hs1, spherocytosis, hereditary, 1

Description

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Most common symptoms of HEREDITARY SPHEROCYTOSIS

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


More info about HEREDITARY SPHEROCYTOSIS

SOURCES: ORPHANET OMIM

SPHEROCYTOSIS, TYPE 4; SPH4


Alternate names

SPHEROCYTOSIS, TYPE 4; SPH4 Is also known as hs4, spherocytosis, hereditary, 4

Most common symptoms of SPHEROCYTOSIS, TYPE 4; SPH4

  • Anemia
  • Splenomegaly
  • Jaundice
  • Hemolytic anemia
  • Hyperbilirubinemia


More info about SPHEROCYTOSIS, TYPE 4; SPH4

SOURCES: MESH OMIM

DISTAL RENAL TUBULAR ACIDOSIS WITH ANEMIA


Alternate names

DISTAL RENAL TUBULAR ACIDOSIS WITH ANEMIA Is also known as drta with anemia

Description

Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia.


More info about DISTAL RENAL TUBULAR ACIDOSIS WITH ANEMIA

SOURCES: ORPHANET

AUTOSOMAL DOMINANT DISTAL RENAL TUBULAR ACIDOSIS


Alternate names

AUTOSOMAL DOMINANT DISTAL RENAL TUBULAR ACIDOSIS Is also known as ad drta

Description

Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


More info about AUTOSOMAL DOMINANT DISTAL RENAL TUBULAR ACIDOSIS

SOURCES: ORPHANET

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT


Alternate names

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT Is also known as rta, distal type, autosomal dominant, renal tubular acidosis i, rta, gradient type, rta, classic type

Most common symptoms of RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Acidosis
  • Postnatal growth retardation


More info about RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

SOURCES: OMIM

DEHYDRATED HEREDITARY STOMATOCYTOSIS


Alternate names

DEHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as hereditary xerocytosis

Description

Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.


More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS

SOURCES: ORPHANET

HEREDITARY CRYOHYDROCYTOSIS WITH NORMAL STOMATIN


Description

Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


More info about HEREDITARY CRYOHYDROCYTOSIS WITH NORMAL STOMATIN

SOURCES: ORPHANET

SOUTHEAST ASIAN OVALOCYTOSIS


Alternate names

SOUTHEAST ASIAN OVALOCYTOSIS Is also known as sao, elliptocytosis, stomatocytic hereditary, stomatocytic elliptocytosis, elliptocytosis 4, hereditary ovalocytosis, ovalocytosis, malaysian-melanesian-filipino type, el4, he, stomatocytic, melanesian elliptocytosis, melanesian ovalocytosis

Description

Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.

Most common symptoms of SOUTHEAST ASIAN OVALOCYTOSIS

  • Depressivity
  • Jaundice
  • Rigidity
  • Hemolytic anemia
  • Cholelithiasis


More info about SOUTHEAST ASIAN OVALOCYTOSIS

SOURCES: ORPHANET OMIM




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