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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
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): STIM1 (11p15.4)
OMIM®: 612783
Orphanet: ORPHA317430

Clinical features

Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Finding
A reduction in the number of circulating thrombocytes.
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.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Finding
Enlargment (swelling) of a lymph node.
Abnormal lymphocyte count
MedGen UID:
663425
Concept ID:
C0580550
Finding
Abnormal immunoglobulin level
MedGen UID:
340953
Concept ID:
C1855755
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Immunodeficiency
MedGen UID:
505335
Concept ID:
CN002471
Finding
Episodic fever
MedGen UID:
82922
Concept ID:
C0277799
Finding
Periodic (episodic or recurrent) bouts of fever.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmune dysfunction with T-cell inactivation due to calcium entry defect 2
Follow this link to review classifications for Immune dysfunction with T-cell inactivation due to calcium entry defect 2 in Orphanet.

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