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 56
Absent Thumb-Short Stature-Immunodeficiency Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
absent thumb-short stature-immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
thumb agenesis, short stature, and immunodeficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 274190
ICD10 via Orphanet 33 D82.8
UMLS via Orphanet 72 C1848818
Orphanet 58 ORPHA2951
MedGen 41 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

More information 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:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 delayed puberty 31 HP:0000823
3 anosmia 31 HP:0000458
4 abnormal cardiac septum morphology 31 HP:0001671
5 severe combined immunodeficiency 31 HP:0004430
6 absent thumb 31 HP:0009777
7 abnormality of the integument 31 HP:0001574

Symptoms via clinical synopsis from OMIM:

56
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
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
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