MCID: ALP049
MIFTS: 11

Alopecia Antibody Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia Antibody Deficiency

MalaCards integrated aliases for Alopecia Antibody Deficiency:

Name: Alopecia Antibody Deficiency 58
Ipp-Gelfand Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
alopecia antibody deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


External Ids:

Orphanet 58 ORPHA1006

Summaries for Alopecia Antibody Deficiency

MalaCards based summary : Alopecia Antibody Deficiency, also known as ipp-gelfand syndrome, is related to alopecia. Affiliated tissues include skin, and related phenotypes are recurrent respiratory infections and immunodeficiency

Related Diseases for Alopecia Antibody Deficiency

Diseases related to Alopecia Antibody Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia 9.8

Symptoms & Phenotypes for Alopecia Antibody Deficiency

Human phenotypes related to Alopecia Antibody Deficiency:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
3 decreased antibody level in blood 58 31 hallmark (90%) Very frequent (99-80%) HP:0004313
4 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
5 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
6 abnormal eyelash morphology 31 hallmark (90%) HP:0000499
7 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
8 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
9 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
10 abnormality of dental color 58 31 occasional (7.5%) Occasional (29-5%) HP:0011073
11 abnormality of the eyelashes 58 Very frequent (99-80%)
12 sparse hair 58 Very frequent (99-80%)

Drugs & Therapeutics for Alopecia Antibody Deficiency

Search Clinical Trials , NIH Clinical Center for Alopecia Antibody Deficiency

Genetic Tests for Alopecia Antibody Deficiency

Anatomical Context for Alopecia Antibody Deficiency

MalaCards organs/tissues related to Alopecia Antibody Deficiency:

40
Skin

Publications for Alopecia Antibody Deficiency

Variations for Alopecia Antibody Deficiency

Expression for Alopecia Antibody Deficiency

Search GEO for disease gene expression data for Alopecia Antibody Deficiency.

Pathways for Alopecia Antibody Deficiency

GO Terms for Alopecia Antibody Deficiency

Sources for Alopecia Antibody Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....