Single allele AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002247742.2
Allele description [Variation Report for Single allele]
Condition(s)
- Name:
- Immunodeficiency 33 (IMD33)
- Synonyms:
- Immunodeficiency without anhidrotic ectodermal dysplasia; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
- Identifiers:
- MONDO: MONDO:0010386; MedGen: C1970879; Orphanet: 319605; Orphanet: 319612; OMIM: 300636
- Name:
- Ectodermal dysplasia and immunodeficiency 1 (EDAID1)
- Synonyms:
- Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY 1; Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020740; MedGen: C1846008; Orphanet: 238468; Orphanet: 98813; OMIM: 300291
- Name:
- Incontinentia pigmenti syndrome (IP)
- Synonyms:
- INCONTINENTIA PIGMENTI, TYPE II; Incontinentia pigmenti, familial male-lethal type; Bloch-Sulzberger syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010631; MedGen: C0021171; Orphanet: 464; OMIM: 308300
Assertion and evidence details
Last Updated: Sep 16, 2024