Information on ISDNA

Basic details

Name: Immunoskeletal dysplasia with neurodevelopmental abnormalities | Acronym: ISDNA
Alt. names:

Gene: EXTL3 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2017

Last updated on: 2023-02-28 16:41:18 by

OMIM: 617425

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

The condition can include severe combined immunodeficiency, and awareness may allow preventive measures and early and aggressive treatment of infections. Refs. PMIDs: 28148688; 28132690

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Congenital onsetarrow icon 14 (93.3%) 0 (0.0%) 1 (6.7%)
2 Depressed nasal bridgearrow icon 11 (91.7%) 0 (0.0%) 1 (8.3%)
3 Platyspondylyarrow icon 11 (99.9%) 0 (0.0%) 0 (0.0%)
4 Brachydactylyarrow icon 9 (69.2%) 0 (0.0%) 4 (30.8%)
5 Severe combined immunodeficiencyarrow icon 7 (58.3%) 0 (0.0%) 5 (41.7%)
6 Coarse facial featuresarrow icon 6 (85.7%) 0 (0.0%) 1 (14.3%)
7 Disproportionate short staturearrow icon 6 (66.7%) 0 (0.0%) 3 (33.3%)
8 Global developmental delayarrow icon 6 (99.9%) 0 (0.0%) 0 (0.0%)
9 Hepatic cystarrow icon 6 (42.9%) 0 (0.0%) 8 (57.1%)
10 Limb undergrowtharrow icon 6 (60.0%) 0 (0.0%) 4 (40.0%)
11 Cervical spinal canal stenosisarrow icon 5 (99.9%) 0 (0.0%) 0 (0.0%)
12 Delayed ossification of carpal bonesarrow icon 5 (55.6%) 0 (0.0%) 4 (44.4%)
13 Hypoplasia of the capital femoral epiphysisarrow icon 5 (99.9%) 0 (0.0%) 0 (0.0%)
14 Single transverse palmar creasearrow icon 5 (71.4%) 0 (0.0%) 2 (28.6%)
15 Thoracolumbar kyphosisarrow icon 5 (45.5%) 0 (0.0%) 6 (54.6%)
16 Dislocated radial headarrow icon 4 (44.4%) 0 (0.0%) 5 (55.6%)
17 Disproportionate short-limb short staturearrow icon 4 (80.0%) 0 (0.0%) 1 (20.0%)
18 Infantile onsetarrow icon 4 (36.4%) 0 (0.0%) 7 (63.6%)
19 Micrognathiaarrow icon 4 (80.0%) 0 (0.0%) 1 (20.0%)
20 Recurrent infectionsarrow icon 4 (33.3%) 0 (0.0%) 8 (66.7%)
21 Seizuresarrow icon 4 (66.7%) 0 (0.0%) 2 (33.3%)
22 Spinal cord compressionarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
23 Abnormally low T cell receptor excision circle levelarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
24 Anal atresiaarrow icon 3 (25.0%) 0 (0.0%) 9 (75.0%)
25 Muscular hypotonia of the trunkarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
26 Broad nasal tiparrow icon 3 (42.9%) 0 (0.0%) 4 (57.1%)
27 Coxa valgaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
28 Death in infancyarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
29 Eosinophiliaarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
30 Muscular hypotoniaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
31 Increased intervertebral spacearrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
32 Intellectual disabilityarrow icon 3 (50.0%) 0 (0.0%) 3 (50.0%)
33 Juvenile onsetarrow icon 3 (33.3%) 0 (0.0%) 6 (66.7%)
34 Microcephalyarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
35 Pectus excavatumarrow icon 3 (25.0%) 0 (0.0%) 9 (75.0%)
36 Trident acetabulumarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
37 Failure to thrivearrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
38 Fetal distressarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
39 Frontal bossingarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
40 Metaphyseal dysplasiaarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
41 Severe T-cell immunodeficiencyarrow icon 2 (16.7%) 0 (0.0%) 10 (83.3%)
42 Upslanted palpebral fissurearrow icon 2 (33.3%) 0 (0.0%) 4 (66.7%)
43 Young adult onsetarrow icon 2 (22.2%) 0 (0.0%) 7 (77.8%)
44 Anteverted naresarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
45 Blepharitisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
46 Broad ischiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
47 Chalazionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
48 Childhood onsetarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
49 Clonusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
50 Cloverleaf skullarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
51 Coxa varaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
52 Craniosynostosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
53 Decreased IgG levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
54 Decreased IgM levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
55 Full cheeksarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
56 Generalized-onset seizurearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
57 Hip dysplasiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
58 Hyperreflexiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
59 Hypertelorismarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
60 Hypertriglyceridemiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
61 Kyphoscoliosisarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
62 Laryngotracheal stenosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
63 Lower limb muscle weaknessarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
64 Lumbar hyperlordosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
65 Lymphopeniaarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
66 Metaphyseal wideningarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
67 Multiple renal cystsarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
68 Nystagmusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
69 Opisthotonusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
70 Pear-shaped vertebraearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
71 Polyhydramniosarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
72 Progressive microcephalyarrow icon 1 (11.1%) 0 (0.0%) 8 (88.9%)
73 Prominent nosearrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
74 Recurrent pneumoniaarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
75 Rigidityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
76 Sacral dimplearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
77 Scaphocephalyarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
78 Septicaemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
79 Short chinarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
80 Short nosearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
81 Simple eararrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
82 Thoracic scoliosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
83 Trident handarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
84 Wide intermamillary distancearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.