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STROMS
MCID: STR094
MIFTS: 32

Stromme Syndrome (STROMS)

Categories: Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Stromme Syndrome

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MalaCards integrated aliases for Stromme Syndrome:

Name: Stromme Syndrome 57 12 59 75 37 29 6 15 40
Jejunal Atresia with Microcephaly and Ocular Anomalies 57 12 75 73
Apple Peel Syndrome with Microcephaly and Ocular Anomalies 57 12 75
Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome 12 59
Stroms 57 75
Cild31 12 75
Apple-Peel Intestinal Atresia-Ocular Anomalies-Microcephaly Syndrome 59
Ciliary Dyskinesia, Primary, 31, Formerly; Cild31, Formerly 57
Jejunal Atresia-Microcephaly-Ocular Anomalies Syndrome 59
Ciliary Dyskinesia, Primary, 31, Formerly 57
Dyskinesia, Ciliary, Primary, Type 31 40
Ciliary Dyskinesia, Primary, 31 75
Primary Ciliary Dyskinesia 31 12
Cild31, Formerly 57
Str�mme Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in utero
early childhood lethality may occur


HPO:

32
stromme syndrome:
Mortality/Aging stillbirth
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Stromme Syndrome

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OMIM : 57 Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). (243605)

MalaCards based summary : Stromme Syndrome, also known as jejunal atresia with microcephaly and ocular anomalies, is related to kashani strom utley syndrome and finger locking, recurrent, with intrauterine growth retardation and proportionate short stature. An important gene associated with Stromme Syndrome is CENPF (Centromere Protein F). The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, and related phenotypes are hypertelorism and agenesis of corpus callosum

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has material basis in compound heterozygous mutation in the CENPF gene on chromosome 1q41.

UniProtKB/Swiss-Prot : 75 Stromme syndrome: An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases.

Wikipedia : 76 Strømme syndrome is an extremely rare autosomal recessive genetic disorder which affects multiple... more...

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Related Diseases for Stromme Syndrome

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Diseases related to Stromme Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kashani strom utley syndrome 12.1
2 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature 11.1
3 intestinal atresia 10.5
4 microcephaly 10.5
5 zollinger-ellison syndrome 10.1

Graphical network of the top 20 diseases related to Stromme Syndrome:



Diseases related to Stromme Syndrome
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Symptoms & Phenotypes for Stromme Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
optic nerve hypoplasia
microphthalmia
sclerocornea
iris coloboma
more
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
agenesis of the corpus callosum
learning disabilities (in some patients)

Head And Neck Mouth:
cleft palate
wide mouth

Abdomen Gastrointestinal:
intestinal malrotation
intestinal atresia
duodenal atresia
jejunal atresia

Head And Neck Nose:
short columella
broad nasal bridge
high nasal bridge

Abdomen Spleen:
accessory spleen (1 patient)

Head And Neck Ears:
low-set ears

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Genitourinary Kidneys:
hydronephrosis
renal hypodysplasia

Cardiovascular Heart:
persistent foramen ovale
myopathic changes
hypoplastic muscular tissue
small cardiomyocytes with little cytoplasm

Skeletal Hands:
polydactyly, preaxial (1 patient)


Clinical features from OMIM:

243605

Human phenotypes related to Stromme Syndrome:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 hydrocephalus 32 HP:0000238
4 cataract 32 HP:0000518
5 wide nasal bridge 32 HP:0000431
6 myopathy 32 HP:0003198
7 cleft palate 32 HP:0000175
8 prominent nasal bridge 32 HP:0000426
9 optic nerve hypoplasia 32 HP:0000609
10 cerebellar hypoplasia 32 HP:0001321
11 wide mouth 32 HP:0000154
12 microphthalmia 32 HP:0000568
13 deeply set eye 32 HP:0000490
14 intestinal malrotation 32 HP:0002566
15 retinal vascular tortuosity 32 HP:0012841
16 sclerocornea 32 HP:0000647
17 iris coloboma 32 HP:0000612
18 microcornea 32 HP:0000482
19 hydronephrosis 32 HP:0000126
20 short columella 32 HP:0002000
21 duodenal atresia 32 HP:0002247
22 cerebellar vermis hypoplasia 32 HP:0001320
23 peters anomaly 32 HP:0000659
24 jejunal atresia 32 HP:0005235
25 bilateral renal hypoplasia 32 HP:0012584
Sources

Drugs & Therapeutics for Stromme Syndrome

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Drugs for Stromme Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4 Neurotransmitter Agents Phase 4,Not Applicable
5 Vasoconstrictor Agents Phase 4
6 Mydriatics Phase 4
7 Anti-Asthmatic Agents Phase 4
8 Anesthetics, Local Phase 4
9 Adrenergic beta-Agonists Phase 4
10 Central Nervous System Depressants Phase 4
11 Peripheral Nervous System Agents Phase 4,Phase 2
12 Sympathomimetics Phase 4
13 Respiratory System Agents Phase 4
14 Adrenergic Agonists Phase 4
15 Adrenergic Agents Phase 4
16 Epinephryl borate Phase 4
17 Autonomic Agents Phase 4
18 Bronchodilator Agents Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Anesthetics Phase 4,Not Applicable
21 Hormones Phase 3,Phase 2
22
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
23
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5330286 5005498
24
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
25 Estrogen Antagonists Phase 2
26 Estrogen Receptor Antagonists Phase 2
27 Protein Kinase Inhibitors Phase 2
28 Steroid Synthesis Inhibitors Phase 2
29 Hormone Antagonists Phase 2
30 Estrogens Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
32 Aromatase Inhibitors Phase 2
33 Antiviral Agents Phase 2
34 Anti-HIV Agents Phase 2
35 Analgesics Phase 2
36 Analgesics, Non-Narcotic Phase 2
37 Anti-Infective Agents Phase 2
38 Liver Extracts Phase 2
39 Anti-Retroviral Agents Phase 2
40 Interleukin-2 Phase 2
41
Imidacloprid Vet_approved Not Applicable 105827-78-9 86418
42 Hypnotics and Sedatives Not Applicable
43 Cholinergic Agents Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 EXPAREL Post-tonsillectomy Clinical Trial Recruiting NCT03420638 Phase 4 Adjunct Exparel (bupivacaine liposome suspension 1.3%)
2 S9927 Radiation Therapy After Surgery, Chemotherapy, and/or Hormone Therapy in Stage II Breast Cancer Terminated NCT00005983 Phase 3
3 Assessing the Cosmesis and Toxicity of Partial Breast Irradiation Using Proton Beam Irradiation Recruiting NCT01245712 Phase 2
4 Trial of Letrozole + Palbociclib/Placebo in Metastatic Endometrial Cancer Recruiting NCT02730429 Phase 2 Palbociclib/placebo;Letrozole
5 Efficacy of Low Dose, SubQ Interleukin-2 (IL-2) to Expand Endogenous Regulatory T-Cells in Liver Transplant Recipients Recruiting NCT02739412 Phase 2
6 Aggressive Local Therapy for Limited Bone-Only Metastasis to Improve Progression-Free Survival in Breast Cancer Patients Active, not recruiting NCT00929214 Phase 2 Standard Therapy
7 Prediction and Detection of Occult Atrial Fibrillation in Patients After Acute Cryptogenic Stroke and TIA Completed NCT02725944
8 Intubation With McGrath Video Laryngoscope and Boedeker Intubation Foreceps in a Population of Patients With Predictors of Difficult Airway Completed NCT01976546
9 MATCh Parents' Supplemental Survey Completed NCT00487357
10 Advantages and Disadvantages of Long Term Sedation in Intensive Care Unit Patients Completed NCT00466492 Not Applicable
11 Internet-based Cognitive Behavioural Treatment for Chronic Back Pain Completed NCT01329861 Not Applicable
12 Digital Reminiscence for People With Dementia Completed NCT03429686 Not Applicable
13 Lumbar Spinal Fusion - Web-based Platform Targeting Anxiety and Depression Recruiting NCT02615483 Not Applicable
14 APOE Genotype and Diet Influences on Alzheimer's Biomarkers Recruiting NCT03070535 Not Applicable
15 Comparison Between a Standard Tube and the Ultra-thin Tritube for Intubation of the Trachea and for Maintaining Access to the Trachea After Anaesthesia, in Patients With an Expected Difficult Direct Laryngoscopy Recruiting NCT03653039 Not Applicable
16 The Norwegian Adult Achondroplasia Study Recruiting NCT03780153
17 Trial of an Adapted STD Screening and Risk Reduction Intervention Recruiting NCT02513225 Not Applicable
18 Genomic Translation for Amyotrophic Lateral Sclerosis Care Recruiting NCT02795897
19 Treatment of Proximal Humeral Fractures Recruiting NCT01246167 Not Applicable
20 Search for Biomarkers of Infection and Inflammation in Patients With Acute Stroke. Not yet recruiting NCT03812666
21 Nature Video to Improve Older Adult Health: A Feasibility Study. Not yet recruiting NCT03722316 Not Applicable

Search NIH Clinical Center for Stromme Syndrome

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Genetic Tests for Stromme Syndrome

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Genetic tests related to Stromme Syndrome:

# Genetic test Affiliating Genes
1 Stromme Syndrome 29 CENPF
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Anatomical Context for Stromme Syndrome

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MalaCards organs/tissues related to Stromme Syndrome:

41
Eye, Brain, Kidney, Heart, Fetal Brain, Spleen
Sources

Publications for Stromme Syndrome

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Articles related to Stromme Syndrome:

# Title Authors Year
1
A further family of Stromme syndrome carrying CENPF mutation. ( 28407396 )
2017
2
Stromme Syndrome: New Clinical Features. ( 28401041 )
2017
3
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. ( 27300082 )
2016
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Variations for Stromme Syndrome

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ClinVar genetic disease variations for Stromme Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CENPF NM_016343.3(CENPF): c.1744G> T (p.Glu582Ter) single nucleotide variant Pathogenic rs367624766 GRCh38 Chromosome 1, 214640082: 214640082
2 CENPF NM_016343.3(CENPF): c.1744G> T (p.Glu582Ter) single nucleotide variant Pathogenic rs367624766 GRCh37 Chromosome 1, 214813425: 214813425
3 CENPF NM_016343.3(CENPF): c.574-2A> C single nucleotide variant Pathogenic rs376767238 GRCh37 Chromosome 1, 214793996: 214793996
4 CENPF NM_016343.3(CENPF): c.574-2A> C single nucleotide variant Pathogenic rs376767238 GRCh38 Chromosome 1, 214620653: 214620653
5 CENPF NM_016343.3(CENPF): c.8692C> T (p.Arg2898Ter) single nucleotide variant Pathogenic rs786205697 GRCh38 Chromosome 1, 214657139: 214657139
6 CENPF NM_016343.3(CENPF): c.8692C> T (p.Arg2898Ter) single nucleotide variant Pathogenic rs786205697 GRCh37 Chromosome 1, 214830482: 214830482
7 CENPF NM_016343.3(CENPF): c.2734G> T (p.Glu912Ter) single nucleotide variant Pathogenic rs200976140 GRCh38 Chromosome 1, 214641072: 214641072
8 CENPF NM_016343.3(CENPF): c.2734G> T (p.Glu912Ter) single nucleotide variant Pathogenic rs200976140 GRCh37 Chromosome 1, 214814415: 214814415
9 CENPF NM_016343.3(CENPF): c.171_199del29 (p.Asn57Lysfs) deletion Pathogenic rs757575602 GRCh37 Chromosome 1, 214788183: 214788211
10 CENPF NM_016343.3(CENPF): c.171_199del29 (p.Asn57Lysfs) deletion Pathogenic rs757575602 GRCh38 Chromosome 1, 214614840: 214614868
11 CENPF NM_016343.3(CENPF): c.9280C> T (p.Arg3094Ter) single nucleotide variant Pathogenic rs869312748 GRCh38 Chromosome 1, 214663729: 214663729
12 CENPF NM_016343.3(CENPF): c.9280C> T (p.Arg3094Ter) single nucleotide variant Pathogenic rs869312748 GRCh37 Chromosome 1, 214837072: 214837072
13 CENPF NM_016343.3(CENPF): c.2936_2937delTT (p.Leu979Glnfs) deletion Uncertain significance GRCh38 Chromosome 1, 214641274: 214641275
14 CENPF NM_016343.3(CENPF): c.2936_2937delTT (p.Leu979Glnfs) deletion Uncertain significance GRCh37 Chromosome 1, 214814617: 214814618
Sources

Expression for Stromme Syndrome

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Search GEO for disease gene expression data for Stromme Syndrome.
Sources

Pathways for Stromme Syndrome

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GO Terms for Stromme Syndrome

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Sources for Stromme Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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