ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 612132
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000698) Conical tooth 14 / 7739
2
(HPO:0011120) Concave nasal ridge 9 / 7739
3
(HPO:0002007) Frontal bossing 366 / 7739
4
(HPO:0000668) Hypodontia 81 / 7739
5
(HPO:0004798) Recurrent infection of the gastrointestinal tract 9 / 7739
6
(HPO:0000966) Hypohidrosis 41 / 7739
7
(HPO:0007476) Anhidrotic ectodermal dysplasia 4 / 7739
8
(HPO:0000970) Anhidrosis 24 / 7739
9
(HPO:0011136) Aplasia of the sweat glands 2 / 7739
10
(HPO:0008070) Sparse hair 94 / 7739
11
(HPO:0002046) Heat intolerance 13 / 7739
12
(HPO:0002205) Recurrent respiratory infections 254 / 7739
13
(HPO:0002719) Recurrent infections 107 / 7739
14
(OMIM) Low or normal serum immunoglobulins 1 / 7739
15
(OMIM) Impaired immune responses 1 / 7739
16
(OMIM) Cutaneous candidiasis 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Defective production of NFKB1-dependent cytokines by white blood cells 1 / 7739
19
(HPO:0003593) Infantile onset 249 / 7739
20
(OMIM) Light, sparse hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering ...
Clinical Description OMIM Courtois et al. (2003) reported a 7-year-old boy with autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency. His parents were unaffected and not related. Since 2 months of age he had chronic diarrhea, recurrent bronchopneumonitis, hepatosplenomegaly, and failure ...
Molecular genetics OMIM In a 7-year-old boy with autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency, Courtois et al. (2003) identified a heterozygous mutation in the NFKBIA gene (S32I; 164008.0001). Janssen et al. (2004) identified the S32I mutation in a father ...