STISS
MCID: STN014
MIFTS: 23

Stankiewicz-Isidor Syndrome (STISS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Stankiewicz-Isidor Syndrome

MalaCards integrated aliases for Stankiewicz-Isidor Syndrome:

Name: Stankiewicz-Isidor Syndrome 57 20 72 29 6
Stiss 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


HPO:

31
stankiewicz-isidor syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stankiewicz-Isidor Syndrome

UniProtKB/Swiss-Prot : 72 Stankiewicz-Isidor syndrome: A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems.

MalaCards based summary : Stankiewicz-Isidor Syndrome, is also known as stiss. An important gene associated with Stankiewicz-Isidor Syndrome is PSMD12 (Proteasome 26S Subunit, Non-ATPase 12). Affiliated tissues include pineal, eye and heart, and related phenotypes are intellectual disability and nystagmus

OMIM® : 57 Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017). (617516) (Updated 05-Apr-2021)

Related Diseases for Stankiewicz-Isidor Syndrome

Symptoms & Phenotypes for Stankiewicz-Isidor Syndrome

Human phenotypes related to Stankiewicz-Isidor Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 nystagmus 31 very rare (1%) HP:0000639
3 hearing impairment 31 very rare (1%) HP:0000365
4 hypertelorism 31 very rare (1%) HP:0000316
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 strabismus 31 very rare (1%) HP:0000486
7 cryptorchidism 31 very rare (1%) HP:0000028
8 retrognathia 31 very rare (1%) HP:0000278
9 motor delay 31 very rare (1%) HP:0001270
10 micropenis 31 very rare (1%) HP:0000054
11 facial asymmetry 31 very rare (1%) HP:0000324
12 patent ductus arteriosus 31 very rare (1%) HP:0001643
13 hypospadias 31 very rare (1%) HP:0000047
14 ventricular septal defect 31 very rare (1%) HP:0001629
15 truncus arteriosus 31 very rare (1%) HP:0001660
16 sacral dimple 31 very rare (1%) HP:0000960
17 short thumb 31 very rare (1%) HP:0009778
18 ureteral duplication 31 very rare (1%) HP:0000073
19 feeding difficulties 31 very rare (1%) HP:0011968
20 shawl scrotum 31 very rare (1%) HP:0000049
21 prominent nose 31 very rare (1%) HP:0000448
22 autistic behavior 31 very rare (1%) HP:0000729
23 hyperactivity 31 very rare (1%) HP:0000752
24 absent thumb 31 very rare (1%) HP:0009777
25 cerebral visual impairment 31 very rare (1%) HP:0100704
26 2-3 toe syndactyly 31 very rare (1%) HP:0004691
27 abnormality of the optic disc 31 very rare (1%) HP:0012795
28 pineal cyst 31 very rare (1%) HP:0012683
29 seizure 31 very rare (1%) HP:0001250
30 hypotonia 31 very rare (1%) HP:0001252
31 global developmental delay 31 HP:0001263
32 micrognathia 31 HP:0000347
33 low-set ears 31 HP:0000369
34 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
pineal cyst
seizures (in some patients)
speech delay
delayed development

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
deafness

Cardiovascular Heart:
patent ductus arteriosus
truncus arteriosus
septal defects
congenital heart defects

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
large nose

Cardiovascular Vascular:
aortic hypoplasia

Head And Neck Eyes:
nystagmus
hypertelorism
strabismus
cortical visual impairment
abnormal optic nerve heads
more
Head And Neck Face:
retrognathia
micrognathia
asymmetric facies

Genitourinary External Genitalia Male:
micropenis
hypospadias
shawl scrotum

Skeletal Feet:
toe syndactyly

Skeletal Hands:
absent thumb
thumb hypoplasia

Neurologic Behavioral Psychiatric Manifestations:
abnormal behavior
autistic features

Genitourinary Kidneys:
renal abnormalities
fusion kidneys

Genitourinary Ureters:
duplicate ureters

Clinical features from OMIM®:

617516 (Updated 05-Apr-2021)

Drugs & Therapeutics for Stankiewicz-Isidor Syndrome

Search Clinical Trials , NIH Clinical Center for Stankiewicz-Isidor Syndrome

Genetic Tests for Stankiewicz-Isidor Syndrome

Genetic tests related to Stankiewicz-Isidor Syndrome:

# Genetic test Affiliating Genes
1 Stankiewicz-Isidor Syndrome 29 PSMD12

Anatomical Context for Stankiewicz-Isidor Syndrome

MalaCards organs/tissues related to Stankiewicz-Isidor Syndrome:

40
Pineal, Eye, Heart

Publications for Stankiewicz-Isidor Syndrome

Articles related to Stankiewicz-Isidor Syndrome:

# Title Authors PMID Year
1
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. 6 57
28132691 2017

Variations for Stankiewicz-Isidor Syndrome

ClinVar genetic disease variations for Stankiewicz-Isidor Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSMD12 NM_002816.5(PSMD12):c.601C>T (p.Arg201Ter) SNV Pathogenic 427781 rs895130488 GRCh37: 17:65343511-65343511
GRCh38: 17:67347395-67347395
2 PSMD12 NM_002816.5(PSMD12):c.367C>T (p.Arg123Ter) SNV Pathogenic 427779 rs1114167442 GRCh37: 17:65346383-65346383
GRCh38: 17:67350267-67350267
3 PSMD12 NM_002816.5(PSMD12):c.909-2A>G SNV Pathogenic 427782 rs1114167444 GRCh37: 17:65340898-65340898
GRCh38: 17:67344782-67344782
4 PSMD12 NM_002816.5(PSMD12):c.1274T>G (p.Leu425Ter) SNV Pathogenic 427780 rs1114167443 GRCh37: 17:65337056-65337056
GRCh38: 17:67340940-67340940
5 PSMD12 NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter) SNV Pathogenic 638584 rs1403781576 GRCh37: 17:65340772-65340772
GRCh38: 17:67344656-67344656
6 PSMD12 NM_002816.5(PSMD12):c.142_143CT[3] (p.Leu50fs) Microsatellite Pathogenic 807474 rs1598574154 GRCh37: 17:65353654-65353655
GRCh38: 17:67357538-67357539
7 PSMD12 NM_002816.5(PSMD12):c.355C>T (p.Pro119Ser) SNV Uncertain significance 1029483 GRCh37: 17:65346395-65346395
GRCh38: 17:67350279-67350279
8 PSMD12 NM_002816.5(PSMD12):c.79C>A (p.Arg27Ser) SNV Uncertain significance 1032849 GRCh37: 17:65362557-65362557
GRCh38: 17:67366441-67366441
9 PSMD12 NM_002816.5(PSMD12):c.1096A>G (p.Met366Val) SNV Uncertain significance 803461 rs1598552881 GRCh37: 17:65338367-65338367
GRCh38: 17:67342251-67342251
10 PSMD12 NM_002816.5(PSMD12):c.112G>A (p.Gly38Arg) SNV not provided 972984 GRCh37: 17:65353691-65353691
GRCh38: 17:67357575-67357575

Expression for Stankiewicz-Isidor Syndrome

Search GEO for disease gene expression data for Stankiewicz-Isidor Syndrome.

Pathways for Stankiewicz-Isidor Syndrome

GO Terms for Stankiewicz-Isidor Syndrome

Sources for Stankiewicz-Isidor Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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