DIGEORGE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOPLASIA OF THYMUS AND PARATHYROIDS
DGCR, INCLUDED
CATCH22, INCLUDED
TAKAO VCF SYNDROME, INCLUDED
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED
DGS
CHROMOSOME 22q11.2 DELETION SYNDROME
Number of Symptoms 62
OrphanetNr:
OMIM Id: 188400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000322) Short philtrum 130 / 7739
2
(HPO:0000193) Bifid uvula 66 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000218) High palate 356 / 7739
5
(HPO:0000581) Blepharophimosis 197 / 7739
6
(HPO:0000347) Micrognathia 426 / 7739
7
(HPO:0000175) Cleft palate 349 / 7739
8
(HPO:0000577) Exotropia 43 / 7739
9
(HPO:0000647) Sclerocornea 25 / 7739
10
(HPO:0000646) Amblyopia 42 / 7739
11
(HPO:0000627) Posterior embryotoxon 15 / 7739
12
(HPO:0000486) Strabismus 576 / 7739
13
(HPO:0000369) Low-set ears 372 / 7739
14
(HPO:0000370) Abnormality of the middle ear 2 / 7739
15
(HPO:0001327) Photomyoclonic seizures 125 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0007302) Bipolar affective disorder 15 / 7739
18
(HPO:0000750) Delayed speech and language development 197 / 7739
19
(HPO:0001263) Global developmental delay 853 / 7739
20
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
21
(HPO:0100753) Schizophrenia 20 / 7739
22
(HPO:0000821) Hypothyroidism 141 / 7739
23
(HPO:0008211) Parathyroid agenesis 2 / 7739
24
(HPO:0008191) Thyroid agenesis 11 / 7739
25
(HPO:0000860) Parathyroid hypoplasia 3 / 7739
26
(HPO:0002650) Scoliosis 705 / 7739
27
(HPO:0000023) Inguinal hernia 181 / 7739
28
(HPO:0001081) Cholelithiasis 36 / 7739
29
(HPO:0100541) Femoral hernia 7 / 7739
30
(HPO:0001537) Umbilical hernia 206 / 7739
31
(HPO:0004322) Short stature 1232 / 7739
32
(HPO:0001513) Obesity 172 / 7739
33
(HPO:0001051) Seborrheic dermatitis 25 / 7739
34
(HPO:0001660) Truncus arteriosus 21 / 7739
35
(HPO:0001629) Ventricular septal defect 316 / 7739
36
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
37
(HPO:0011611) Interrupted aortic arch 10 / 7739
38
(HPO:0001636) Tetralogy of Fallot 104 / 7739
39
(HPO:0012020) Right aortic arch 9 / 7739
40
(HPO:0001643) Patent ductus arteriosus 228 / 7739
41
(HPO:0002901) Hypocalcemia 56 / 7739
42
(HPO:0001611) Nasal speech 48 / 7739
43
(HPO:0005359) Aplasia of the thymus 6 / 7739
44
(HPO:0002719) Recurrent infections 107 / 7739
45
(HPO:0000778) Hypoplasia of the thymus 13 / 7739
46
(HPO:0000777) Abnormality of the thymus 9 / 7739
47
(HPO:0001281) Tetany 20 / 7739
48
(OMIM) Accommodative esotropia 1 / 7739
49
(OMIM) 85-90% DGS patients have deletion of 22q11.2 1 / 7739
50
(OMIM) Other cytogenic abnormalities have been associated with DGS phenotype including monosomy 10p13, 11p13, and 4q21 1 / 7739
51
(OMIM) Eyelid hooding 1 / 7739
52
(OMIM) Neonatal hypocalcemia 1 / 7739
53
(OMIM) Complicated strabismus 1 / 7739
54
(OMIM) Tortuous retinal vasculature 1 / 7739
55
(OMIM) Immune defect due to a T cell deficit 1 / 7739
56
(OMIM) Hearing deficit 2 / 7739
57
(OMIM) Accessory thyroid tissue 1 / 7739
58
(OMIM) Abnormal folded pinna 1 / 7739
59
(OMIM) Severe acne (23% of adults) 1 / 7739
60
(OMIM) Blunted nose 1 / 7739
61
(OMIM) Mild to moderate learning difficulties 1 / 7739
62
(OMIM) T-cell deficit 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. ...
Clinical Description OMIM DiGeorge syndrome is characterized by neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells. The immune deficit is caused by ...
Genotype-Phenotype Correlations OMIM Patients with DiGeorge syndrome are hemizygous for the COMT gene (116790). In a study of 21 nonpsychotic DiGeorge syndrome patients aged 7 to 16 years, Shashi et al. (2006) found that those carrying the met allele of the ...
Molecular genetics OMIM Several expressed sequences have been identified in the region commonly deleted. Aubry et al. (1993) have identified a zinc finger gene ZNF74, Halford et al. (1993) reported the expressed sequence T10. The gene TUPLE1 (TUP-like enhancer of split ...
Population genetics OMIM A preliminary population study in the Northern region of England, which has a birth population of 40,000 per annum, revealed 9 cases born in 1993 with 22q11 deletions who presented with neonatal features. One of these was familial ...