Information on STISS

Basic details

Name: Stankiewicz-Isidor syndrome with or without autoinflammation | Acronym: STISS
Alt. names: Stankiewicz-Isidor syndrome

Gene: PSMD12 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency

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

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

OMIM: 617516

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Truncating (presumed LOF) mutations in the gene were initially reported to cause a syndrome characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. In 2022, a study reported one family, in which father and daughter presented with previously reported features, such as developmental delay, intellectual disability and dysmorphic features. However, they additionally presented with autoinflammatory features, such as skin rash and congenital uveitis (PMID:35080150).

Management

Description of management option has not been reviewed yet.

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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	Unreported
1	Global developmental delay	4 (99.9%)	0 (0.0%)
2	Intellectual disability	4 (99.9%)	0 (0.0%)
3	Autistic behavior	3 (75.0%)	1 (25.0%)
4	Congenital onset	3 (75.0%)	1 (25.0%)
5	Delayed speech and language development	3 (75.0%)	1 (25.0%)
6	Low-set ears	3 (99.9%)	0 (0.0%)
7	Seizures	3 (30.0%)	7 (70.0%)
8	Feeding difficulties	2 (50.0%)	2 (50.0%)
9	Hearing impairment	2 (50.0%)	2 (50.0%)
10	Muscular hypotonia	2 (66.7%)	1 (33.3%)
11	Micropenis	2 (50.0%)	2 (50.0%)
12	Motor delay	2 (50.0%)	2 (50.0%)
13	Patent ductus arteriosus	2 (50.0%)	2 (50.0%)
14	Posteriorly rotated ears	2 (66.7%)	1 (33.3%)
15	Absent thumb	1 (25.0%)	3 (75.0%)
16	Atrial septal defect	1 (25.0%)	3 (75.0%)
17	Cerebral visual impairment	1 (33.3%)	2 (66.7%)
18	Childhood onset	1 (25.0%)	3 (75.0%)
19	Chordee	1 (25.0%)	3 (75.0%)
20	Crossed fused renal ectopia	1 (25.0%)	3 (75.0%)
21	Cryptorchidism	1 (33.3%)	2 (66.7%)
22	Facial asymmetry	1 (33.3%)	2 (66.7%)
23	Hypertelorism	1 (33.3%)	2 (66.7%)
24	Hypospadias	1 (25.0%)	3 (75.0%)
25	Micrognathia	1 (33.3%)	2 (66.7%)
26	Nystagmus	1 (33.3%)	2 (66.7%)
27	Pineal cyst	1 (33.3%)	2 (66.7%)
28	Prominent nose	1 (33.3%)	2 (66.7%)
29	Recurrent lower respiratory tract infections	1 (33.3%)	2 (66.7%)
30	Retrognathia	1 (33.3%)	2 (66.7%)
31	Sacral dimple	1 (33.3%)	2 (66.7%)
32	Shawl scrotum	1 (25.0%)	3 (75.0%)
33	Short thumb	1 (25.0%)	3 (75.0%)
34	Strabismus	1 (33.3%)	2 (66.7%)
35	Truncus arteriosus	1 (25.0%)	3 (75.0%)
36	Ureteral duplication	1 (25.0%)	3 (75.0%)
37	Ventricular septal defect	1 (25.0%)	3 (75.0%)

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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.