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Immune dysfunction with T-cell inactivation due to calcium entry defect 2(IMD10)

MedGen UID:
440575
Concept ID:
C2748557
Disease or Syndrome
Synonyms: IMD10; IMMUNODEFICIENCY 10; STIM1 DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
autosomal recessive
MedGen UID:
832197
Concept ID:
CN227382
Intellectual Product
Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring.
 
Gene: STIM1
Cytogenetic location: 11p15.4
OMIM®: 612783
Orphanet: ORPHA317430

Clinical features

Hypoplasia of the iris
MedGen UID:
506103
Concept ID:
CN006730
Finding
Congenital underdevelopment of the iris.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.
Abnormal lymphocyte count
MedGen UID:
663425
Concept ID:
C0580550
Finding
Autoimmune hemolytic anemia
MedGen UID:
504990
Concept ID:
CN001709
Finding
An autoimmune form of hemolytic anemia.
Abnormal immunoglobulin level
MedGen UID:
501067
Concept ID:
CN009527
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Episodic fever
MedGen UID:
500916
Concept ID:
CN001768
Finding
Periodic (episodic or recurrent) bouts of fever.
Abnormal immunoglobulin level
MedGen UID:
501067
Concept ID:
CN009527
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Finding
A clinical finding indicating that a lymph node is enlarged. Causes include viral and bacterial infections and cancers that affect the lymph nodes.
Abnormal lymphocyte count
MedGen UID:
663425
Concept ID:
C0580550
Finding
Recurrent bacterial infections
MedGen UID:
411712
Concept ID:
C2748958
Finding
Autoimmune hemolytic anemia
MedGen UID:
504990
Concept ID:
CN001709
Finding
An autoimmune form of hemolytic anemia.
Immunodeficiency
MedGen UID:
505335
Concept ID:
CN002471
Finding
Abnormal immunoglobulin level
MedGen UID:
501067
Concept ID:
CN009527
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGImmune dysfunction with T-cell inactivation due to calcium entry defect 2

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