MCID: STN014
MIFTS: 15

Stankiewicz-Isidor Syndrome

Categories: Genetic diseases

Aliases & Classifications for Stankiewicz-Isidor Syndrome

MalaCards integrated aliases for Stankiewicz-Isidor Syndrome:

Name: Stankiewicz-Isidor Syndrome 57 75 6
Stiss 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


Classifications:



External Ids:

OMIM 57 617516
MeSH 44 D065886

Summaries for Stankiewicz-Isidor Syndrome

UniProtKB/Swiss-Prot : 75 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, kidney and heart.

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)

Related Diseases for Stankiewicz-Isidor Syndrome

Symptoms & Phenotypes for Stankiewicz-Isidor Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
cortical visual impairment
abnormal optic nerve heads
more
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
speech delay
delayed development
pineal cyst

Abdomen Gastrointestinal:
feeding difficulties

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Feet:
toe syndactyly

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
large nose

Cardiovascular Vascular:
aortic hypoplasia

Head And Neck Ears:
low-set ears
deafness

Head And Neck Face:
micrognathia
retrognathia
asymmetric facies

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

Genitourinary External Genitalia Male:
hypospadias
micropenis
shawl scrotum

Skeletal Hands:
absent thumb
thumb hypoplasia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
abnormal behavior

Genitourinary Kidneys:
renal abnormalities
fusion kidneys

Genitourinary Ureters:
duplicate ureters


Clinical features from OMIM:

617516

Drugs & Therapeutics for Stankiewicz-Isidor Syndrome

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

Genetic Tests for Stankiewicz-Isidor Syndrome

Anatomical Context for Stankiewicz-Isidor Syndrome

MalaCards organs/tissues related to Stankiewicz-Isidor Syndrome:

41
Pineal, Kidney, Heart, Eye

Publications for Stankiewicz-Isidor Syndrome

Variations for Stankiewicz-Isidor Syndrome

ClinVar genetic disease variations for Stankiewicz-Isidor Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSMD12 NM_002816.4(PSMD12): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic rs1114167442 GRCh38 Chromosome 17, 67350267: 67350267
2 PSMD12 NM_002816.4(PSMD12): c.367C> T (p.Arg123Ter) single nucleotide variant Pathogenic rs1114167442 GRCh37 Chromosome 17, 65346383: 65346383
3 PSMD12 NM_002816.4(PSMD12): c.1274T> G (p.Leu425Ter) single nucleotide variant Pathogenic rs1114167443 GRCh38 Chromosome 17, 67340940: 67340940
4 PSMD12 NM_002816.4(PSMD12): c.1274T> G (p.Leu425Ter) single nucleotide variant Pathogenic rs1114167443 GRCh37 Chromosome 17, 65337056: 65337056
5 PSMD12 NM_002816.4(PSMD12): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs895130488 GRCh38 Chromosome 17, 67347395: 67347395
6 PSMD12 NM_002816.4(PSMD12): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs895130488 GRCh37 Chromosome 17, 65343511: 65343511
7 PSMD12 NM_002816.4(PSMD12): c.909-2A> G single nucleotide variant Pathogenic rs1114167444 GRCh38 Chromosome 17, 67344782: 67344782
8 PSMD12 NM_002816.4(PSMD12): c.909-2A> G single nucleotide variant Pathogenic rs1114167444 GRCh37 Chromosome 17, 65340898: 65340898

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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