Absent thumb - short stature - immunodeficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr: 2951
OMIM Id: 274190
ICD-10: D82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0004408) Abnormality of the sense of smell Very frequent [Orphanet] 28 / 7739
2
 (HPO:0000458) Anosmia 49 / 7739
3
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
4
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
5
 (HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
6
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
7
 (HPO:0000823) Delayed puberty 65 / 7739
8
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
9
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
10
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
11
 (HPO:0009777) Absent thumb 31 / 7739
12
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
13
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
14
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
15
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
16
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
18
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
19
 (HPO:0001574) Abnormality of the integument 4 / 7739
20
 (HPO:0002299) Brittle hair Occasional [Orphanet] 52 / 7739
21
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
22
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
23
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
24
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
25
 (HPO:0001874) Abnormality of neutrophils Occasional [Orphanet] 47 / 7739
26
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
27
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
28
 (HPO:0100763) Abnormality of the lymphatic system Very frequent [Orphanet] 18 / 7739
29
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
30
 (HPO:0004430) Severe combined immunodeficiency 16 / 7739
31
 (OMIM) Candidiasis, chronic 3 / 7739
32
 (OMIM) Unfused olecranon 1 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: