MCID: STR094
MIFTS: 35

Stromme Syndrome

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Fetal diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Stromme Syndrome

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
Ciliary Dyskinesia, Primary, 31 75 6
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
Primary Ciliary Dyskinesia 31 12
Cild31, Formerly 57

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
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 243605
Disease Ontology 12 DOID:0110595
ICD10 33 Q87.8
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1855705
KEGG 37 H01814
UMLS 73 C1855705

Summaries for Stromme Syndrome

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 Bupivacaine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, fetal brain and liver, and related phenotypes are agenesis of corpus callosum and cleft palate

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.

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.

Related Diseases for Stromme Syndrome

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 12.0
2 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature 10.9
3 intestinal atresia 10.4
4 microcephaly 10.4

Symptoms & Phenotypes for Stromme Syndrome

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

AbdomenSpleen:
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
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 cleft palate 32 HP:0000175
3 duodenal atresia 32 HP:0002247
4 cerebellar vermis hypoplasia 32 HP:0001320
5 bilateral renal hypoplasia 32 HP:0012584

Drugs & Therapeutics for Stromme Syndrome

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Racepinephrine Approved Phase 4 329-65-7 838
4 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
5 Adrenergic Agents Phase 4
6 Adrenergic Agonists Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Adrenergic beta-Agonists Phase 4
9 Anesthetics Phase 4
10 Anesthetics, Local Phase 4
11 Anti-Asthmatic Agents Phase 4
12 Autonomic Agents Phase 4
13 Bronchodilator Agents Phase 4
14 Central Nervous System Depressants Phase 4
15 Epinephryl borate Phase 4
16 Mydriatics Phase 4
17 Peripheral Nervous System Agents Phase 4,Phase 2
18 Respiratory System Agents Phase 4
19 Vasoconstrictor Agents Phase 4
20 Hormone Antagonists Phase 3,Phase 2
21 Hormones Phase 3,Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
23
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
24
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
25
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
26
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
27
Memantine Approved, Investigational Phase 2 19982-08-2 4054
28
Riluzole Approved, Investigational Phase 2 1744-22-5 5070
29 Aromatase Inhibitors Phase 2
30 Estrogen Antagonists Phase 2
31 Estrogens Phase 2
32 Protein Kinase Inhibitors Phase 2
33 Steroid Synthesis Inhibitors Phase 2
34 Analgesics Phase 2
35 Analgesics, Non-Narcotic Phase 2
36 Anti-HIV Agents Phase 2
37 Anti-Infective Agents Phase 2
38 Anti-Retroviral Agents Phase 2
39 Antiviral Agents Phase 2
40 Interleukin-2 Phase 2
41 Liver Extracts Phase 2
42 Antiparkinson Agents Phase 2
43 Dopamine Agents Phase 2
44 Excitatory Amino Acid Antagonists Phase 2
45 Excitatory Amino Acids Phase 2
46
Imidacloprid Vet_approved Not Applicable 105827-78-9 86418
47 Cholinergic Agents Not Applicable
48 Hypnotics and Sedatives Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 EXPAREL Post-tonsillectomy Clinical Trial Recruiting NCT03420638 Phase 4 Adjunct Exparel (bupivacaine liposome suspension 1.3%)
2 Safety and Efficacy Phase 3 Study of Long-acting hGH (MOD-4023) in Growth Hormone Deficient Children Recruiting NCT02968004 Phase 3 MOD-4023;Somatropin
3 S9927 Radiation Therapy After Surgery, Chemotherapy, and/or Hormone Therapy in Stage II Breast Cancer Terminated NCT00005983 Phase 3
4 Assessing the Cosmesis and Toxicity of Partial Breast Irradiation Using Proton Beam Irradiation Recruiting NCT01245712 Phase 2
5 Trial of Letrozole + Palbociclib/Placebo in Metastatic Endometrial Cancer Recruiting NCT02730429 Phase 2 Palbociclib/placebo;Letrozole
6 Efficacy of Low Dose, SubQ Interleukin-2 (IL-2) to Expand Endogenous Regulatory T-Cells in Liver Transplant Recipients Recruiting NCT02739412 Phase 2
7 Efficacy and Safety of IGIV-C in Corticosteroid Dependent Patients With Generalized Myasthenia Gravis Recruiting NCT02473965 Phase 2 IGIV-C;Placebo
8 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
9 Therapy in Amyotrophic Lateral Sclerosis With Memantine at 20 mg BID (TAME) Not yet recruiting NCT02118727 Phase 2 Memantine;Placebo (for Memantine)
10 Intubation With McGrath Video Laryngoscope and Boedeker Intubation Foreceps in a Population of Patients With Predictors of Difficult Airway Completed NCT01976546
11 MATCh Parents' Supplemental Survey Completed NCT00487357
12 Advantages and Disadvantages of Long Term Sedation in Intensive Care Unit Patients Completed NCT00466492 Not Applicable
13 Internet-based Cognitive Behavioural Treatment for Chronic Back Pain Completed NCT01329861 Not Applicable
14 Digital Reminiscence for People With Dementia Completed NCT03429686 Not Applicable
15 Prediction and Detection of Occult Atrial Fibrillation in Patients After Acute Cryptogenic Stroke and TIA Recruiting NCT02725944
16 Lumbar Spinal Fusion - Web-based Platform Targeting Anxiety and Depression Recruiting NCT02615483 Not Applicable
17 APOE Genotype and Diet Influences on Alzheimer's Biomarkers Recruiting NCT03070535 Not Applicable
18 Trial of an Adapted STD Screening and Risk Reduction Intervention Recruiting NCT02513225 Not Applicable
19 Genomic Translation for ALS Care Recruiting NCT02795897
20 Treatment of Proximal Humeral Fractures Recruiting NCT01246167 Not Applicable

Search NIH Clinical Center for Stromme Syndrome

Genetic Tests for Stromme Syndrome

Genetic tests related to Stromme Syndrome:

# Genetic test Affiliating Genes
1 Stromme Syndrome 29 CENPF

Anatomical Context for Stromme Syndrome

MalaCards organs/tissues related to Stromme Syndrome:

41
Brain, Fetal Brain, Liver, Eye, Bone, Spleen, T Cells

Publications for Stromme Syndrome

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

Variations for Stromme Syndrome

ClinVar genetic disease variations for Stromme Syndrome:

6
(show all 12)
# 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

Expression for Stromme Syndrome

Search GEO for disease gene expression data for Stromme Syndrome.

Pathways for Stromme Syndrome

GO Terms for Stromme Syndrome

Sources for Stromme 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
Content
Loading form....