MCID: STN014
MIFTS: 12

Stankiewicz-Isidor Syndrome

Categories: Genetic diseases

Aliases & Classifications for Stankiewicz-Isidor Syndrome

MalaCards integrated aliases for Stankiewicz-Isidor Syndrome:

Name: Stankiewicz-Isidor Syndrome 54

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation


Classifications:



External Ids:

OMIM 54 617516

Summaries for Stankiewicz-Isidor Syndrome

OMIM : 54
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)

MalaCards based summary : Stankiewicz-Isidor Syndrome An important gene associated with Stankiewicz-Isidor Syndrome is PSMD12 (Proteasome 26S Subunit, Non-ATPase 12). Affiliated tissues include heart, kidney and eye.

Related Diseases for Stankiewicz-Isidor Syndrome

Symptoms & Phenotypes for Stankiewicz-Isidor Syndrome

Symptoms via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia

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

Head And Neck- Ears:
low-set ears
deafness

Genitourinary- External Genitalia Male:
micropenis
hypospadias
shawl scrotum

Skeletal- Feet:
toe syndactyly

Neurologic- Behavioral Psychiatric Manifestations:
autistic features
abnormal behavior

Skeletal- Hands:
thumb hypoplasia
absent thumb

Cardiovascular- Vascular:
aortic hypoplasia

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

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Abdomen- Gastroin testinal:
feeding difficulties

Genitourinary- Kidneys:
renal abnormalities
fusion kidneys

Head And Neck- Nose:
large nose

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:

39
Heart, Kidney, Eye, Pineal

Publications for Stankiewicz-Isidor Syndrome

Variations for Stankiewicz-Isidor Syndrome

ClinVar genetic disease variations for Stankiewicz-Isidor Syndrome:

6
id 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.1274T> G (p.Leu425Ter) single nucleotide variant Pathogenic rs1114167443 GRCh38 Chromosome 17, 67340940: 67340940
3 PSMD12 NM_002816.4(PSMD12): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs895130488 GRCh38 Chromosome 17, 67347395: 67347395
4 PSMD12 NM_002816.4(PSMD12): c.909-2A> G single nucleotide variant Pathogenic rs1114167444 GRCh38 Chromosome 17, 67344782: 67344782

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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