MCID: AGM003
MIFTS: 10

Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Categories: Blood diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

MalaCards integrated aliases for Agammaglobulinemia, Microcephaly, and Severe Dermatitis:

Name: Agammaglobulinemia, Microcephaly, and Severe Dermatitis 57 53 29
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

OMIM 57 610483
Orphanet 59 ORPHA83617
ICD10 via Orphanet 34 Q87.0
MedGen 42 C1864848

Summaries for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

MalaCards based summary : Agammaglobulinemia, Microcephaly, and Severe Dermatitis, is also known as agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome. Affiliated tissues include skin.

Description from OMIM: 610483

Related Diseases for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Symptoms & Phenotypes for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Clinical features from OMIM:

610483

Drugs & Therapeutics for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Genetic Tests for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Genetic tests related to Agammaglobulinemia, Microcephaly, and Severe Dermatitis:

# Genetic test Affiliating Genes
1 Agammaglobulinemia, Microcephaly, and Severe Dermatitis 29

Anatomical Context for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

MalaCards organs/tissues related to Agammaglobulinemia, Microcephaly, and Severe Dermatitis:

41
Skin

Publications for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Variations for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Expression for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Search GEO for disease gene expression data for Agammaglobulinemia, Microcephaly, and Severe Dermatitis.

Pathways for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

GO Terms for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

Sources for Agammaglobulinemia, Microcephaly, and Severe Dermatitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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