MCID: THM022
MIFTS: 11

Thumb Agenesis, Short Stature, and Immunodeficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thumb Agenesis, Short Stature, and Immunodeficiency

MalaCards integrated aliases for Thumb Agenesis, Short Stature, and Immunodeficiency:

Name: Thumb Agenesis, Short Stature, and Immunodeficiency 58
Absent Thumb-Short Stature-Immunodeficiency Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
absent thumb-short stature-immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
thumb agenesis, short stature, and immunodeficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 274190
ICD10 via Orphanet 35 D82.8
UMLS via Orphanet 75 C1848818
Orphanet 60 ORPHA2951
MedGen 43 C1848818

Summaries for Thumb Agenesis, Short Stature, and Immunodeficiency

MalaCards based summary : Thumb Agenesis, Short Stature, and Immunodeficiency, is also known as absent thumb-short stature-immunodeficiency syndrome. Related phenotypes are short stature and delayed puberty

Description from OMIM: 274190

Related Diseases for Thumb Agenesis, Short Stature, and Immunodeficiency

Symptoms & Phenotypes for Thumb Agenesis, Short Stature, and Immunodeficiency

Human phenotypes related to Thumb Agenesis, Short Stature, and Immunodeficiency:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 delayed puberty 33 HP:0000823
3 anosmia 33 HP:0000458
4 severe combined immunodeficiency 33 HP:0004430
5 absent thumb 33 HP:0009777
6 abnormal cardiac septum morphology 33 HP:0001671
7 abnormality of the integument 33 HP:0001574

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Head And Neck Nose:
anosmia

Skeletal Hands:
absent thumbs

Skeletal Limbs:
unfused olecranon

Endocrine Features:
delayed puberty

Immunology:
severe combined immunodeficiency

Cardiovascular Heart:
congenital septal defects

Skin Nails Hair Skin:
chronic candidiasis

Clinical features from OMIM:

274190

Drugs & Therapeutics for Thumb Agenesis, Short Stature, and Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Thumb Agenesis, Short Stature, and Immunodeficiency

Genetic Tests for Thumb Agenesis, Short Stature, and Immunodeficiency

Anatomical Context for Thumb Agenesis, Short Stature, and Immunodeficiency

Publications for Thumb Agenesis, Short Stature, and Immunodeficiency

Variations for Thumb Agenesis, Short Stature, and Immunodeficiency

Expression for Thumb Agenesis, Short Stature, and Immunodeficiency

Search GEO for disease gene expression data for Thumb Agenesis, Short Stature, and Immunodeficiency.

Pathways for Thumb Agenesis, Short Stature, and Immunodeficiency

GO Terms for Thumb Agenesis, Short Stature, and Immunodeficiency

Sources for Thumb Agenesis, Short Stature, and Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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