Severe combined immunodeficiency - OMIM - NCBI

Severe combined immunodeficiency - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Severe combined immunodeficiency" 

200900 - SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY

OMIM:

 

200900

Gene summaries Genetic tests Medical literature

Select item 6112912.

#611291 - SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED

Cytogenetic locations: 2q35

OMIM:

 

611291

Gene summaries Genetic tests Medical literature

Select item 6156153.

#615615 - IMMUNODEFICIENCY 18; IMD18

IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED

Cytogenetic locations: 11q23.3

OMIM:

 

615615

Gene summaries Genetic tests Medical literature

Select item 6172374.

#617237 - IMMUNODEFICIENCY 49; IMD49

Cytogenetic locations: 14q32.2

OMIM:

 

617237

Gene summaries Genetic tests Medical literature

Select item 6024505.

#602450 - SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED

Cytogenetic locations: 10p13

OMIM:

 

602450

Gene summaries Genetic tests Medical literature

Select item 6156176.

#615617 - IMMUNODEFICIENCY 19; IMD19

Cytogenetic locations: 11q23.3

OMIM:

 

615617

Gene summaries Genetic tests Medical literature

Select item 6008027.

#600802 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE

Cytogenetic locations: 19p13.11

OMIM:

 

600802

Gene summaries Genetic tests Medical literature

Select item 2675008.

#267500 - RETICULAR DYSGENESIS

Cytogenetic locations: 1p35.1

OMIM:

 

267500

Gene summaries Genetic tests Medical literature

Select item 6089719.

#608971 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE

Cytogenetic locations: 1pter-p36.13, 1q31.3-q32.1

OMIM:

 

608971

Gene summaries Genetic tests Medical literature

Select item 30824010.

#308240 - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1

Cytogenetic locations: Xq25

OMIM:

 

308240

Gene summaries Genetic tests Medical literature

Select item 10270011.

#102700 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY

SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED

Cytogenetic locations: 20q13.12

OMIM:

 

102700

Gene summaries Genetic tests Medical literature

Select item 60355412.

#603554 - OMENN SYNDROME

Cytogenetic locations: 11p12, 1pter-p36.13, 10p13

OMIM:

 

603554

Gene summaries Genetic tests Medical literature

Select item 60145713.

#601457 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE

Cytogenetic locations: 1pter-p36.13, 11p12

OMIM:

 

601457

Gene summaries Genetic tests Medical literature

Select item 30040014.

#300400 - SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

Cytogenetic locations: Xq13.1

OMIM:

 

300400

Gene summaries Genetic tests Medical literature

Select item 20992015.

#209920 - BARE LYMPHOCYTE SYNDROME, TYPE II

BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED

Cytogenetic locations: 1pter-p36.13, 13q13.3, 1pter-p36.13, 1q21.3

OMIM:

 

209920

Gene summaries Genetic tests Medical literature

Select item 24287016.

242870 - IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES

OMIM:

 

242870

Gene summaries Genetic tests Medical literature

Select item 31286317.

#312863 - COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX

Cytogenetic locations: Xq13.1

OMIM:

 

312863

Gene summaries Genetic tests Medical literature

Select item 61778018.

#617780 - COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Cytogenetic locations: 14q23.3

OMIM:

 

617780

Gene summaries Genetic tests Medical literature

Select item 27419019.

%274190 - THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY

OMIM:

 

274190

Gene summaries Genetic tests Medical literature

Select item 61417220.

#614172 - IMMUNODEFICIENCY 21; IMD21

Cytogenetic locations: 3q21.3

OMIM:

 

614172

Gene summaries Genetic tests Medical literature