STROMS
MCID: STR094
MIFTS: 41

Stromme Syndrome (STROMS)

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

Aliases & Classifications for Stromme Syndrome

MalaCards integrated aliases for Stromme Syndrome:

Name: Stromme Syndrome 56 12 58 73 36 29 6 15 39 17
Jejunal Atresia with Microcephaly and Ocular Anomalies 56 12 73 71
Apple Peel Syndrome with Microcephaly and Ocular Anomalies 56 12 73
Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome 12 58
Stroms 56 73
Cild31 12 73
Apple-Peel Intestinal Atresia-Ocular Anomalies-Microcephaly Syndrome 58
Ciliary Dyskinesia, Primary, 31, Formerly; Cild31, Formerly 56
Jejunal Atresia-Microcephaly-Ocular Anomalies Syndrome 58
Ciliary Dyskinesia, Primary, 31, Formerly 56
Dyskinesia, Ciliary, Primary, Type 31 39
Ciliary Dyskinesia, Primary, 31 73
Primary Ciliary Dyskinesia 31 12
Cild31, Formerly 56
Strømme Syndrome 74

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
stromme syndrome:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Stromme Syndrome

OMIM : 56 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 microcephaly and kashani strom utley syndrome. An important gene associated with Stromme Syndrome is CENPF (Centromere Protein F), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include eye, brain and fetal brain, and related phenotypes are accessory spleen and preaxial polydactyly

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.

KEGG : 36 Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum. Although ocular anomalies and intestinal atresia seemed to be consistent features of the syndromic phenotype, phenotypic variabilities in the patients have been reported.

UniProtKB/Swiss-Prot : 73 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 : 74 Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal... more...

Related Diseases for Stromme Syndrome

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



Diseases related to Stromme Syndrome

Symptoms & Phenotypes for Stromme Syndrome

Human phenotypes related to Stromme Syndrome:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 accessory spleen 31 very rare (1%) HP:0001747
2 preaxial polydactyly 31 very rare (1%) HP:0100258
3 cataract 31 HP:0000518
4 hypertelorism 31 HP:0000316
5 wide nasal bridge 31 HP:0000431
6 hydrocephalus 31 HP:0000238
7 microcephaly 31 HP:0000252
8 myopathy 31 HP:0003198
9 cleft palate 31 HP:0000175
10 micrognathia 31 HP:0000347
11 low-set ears 31 HP:0000369
12 wide mouth 31 HP:0000154
13 iris coloboma 31 HP:0000612
14 microphthalmia 31 HP:0000568
15 hydronephrosis 31 HP:0000126
16 deeply set eye 31 HP:0000490
17 prominent nasal bridge 31 HP:0000426
18 intestinal malrotation 31 HP:0002566
19 sclerocornea 31 HP:0000647
20 agenesis of corpus callosum 31 HP:0001274
21 microcornea 31 HP:0000482
22 cerebellar hypoplasia 31 HP:0001321
23 short columella 31 HP:0002000
24 duodenal atresia 31 HP:0002247
25 cerebellar vermis hypoplasia 31 HP:0001320
26 peters anomaly 31 HP:0000659
27 jejunal atresia 31 HP:0005235
28 optic nerve hypoplasia 31 HP:0000609
29 bilateral renal hypoplasia 31 HP:0012584
30 retinal vascular tortuosity 31 HP:0012841

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
iris coloboma
microphthalmia
sclerocornea
microcornea
more
Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Genitourinary Kidneys:
hydronephrosis
renal hypodysplasia

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

Abdomen Spleen:
accessory spleen (1 patient)

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

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
intestinal malrotation
intestinal atresia
duodenal atresia
jejunal atresia

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

Drugs & Therapeutics for Stromme Syndrome

Search Clinical Trials , 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:

40
Eye, Brain, Fetal Brain, Spleen

Publications for Stromme Syndrome

Articles related to Stromme Syndrome:

(show all 12)
# Title Authors PMID Year
1
A further family of Stromme syndrome carrying CENPF mutation. 6 61 56
28407396 2017
2
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. 56 6
26820108 2016
3
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. 6 56
25564561 2015
4
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. 56 6
8261651 1993
5
Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. 56
18203155 2008
6
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. 56
14994240 2004
7
"Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. 56
12116257 2002
8
Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome. 56
9298751 1997
9
Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly. 56
9001813 1996
10
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. 61
31953238 2020
11
CUGC for Stromme syndrome and CENPF-related disorders. 61
31488893 2020
12
Stromme Syndrome: New Clinical Features. 61
28401041 2017

Variations for Stromme Syndrome

ClinVar genetic disease variations for Stromme Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CENPF NM_016343.4(CENPF):c.5920dup (p.Thr1974fs)duplication Pathogenic 619138 rs757531591 1:214818825-214818826 1:214645482-214645483
2 CENPF NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)SNV Pathogenic 190385 rs367624766 1:214813425-214813425 1:214640082-214640082
3 CENPF NM_016343.4(CENPF):c.574-2A>CSNV Pathogenic 190386 rs376767238 1:214793996-214793996 1:214620653-214620653
4 CENPF NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)SNV Pathogenic 190387 rs786205697 1:214830482-214830482 1:214657139-214657139
5 CENPF NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter)SNV Pathogenic 224500 rs200976140 1:214814415-214814415 1:214641072-214641072
6 CENPF NM_016343.4(CENPF):c.171_199del (p.Asn57fs)deletion Pathogenic 224501 rs757575602 1:214788177-214788205 1:214614834-214614862
7 CENPF NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)SNV Pathogenic 224502 rs869312748 1:214837072-214837072 1:214663729-214663729
8 CENPF NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs)deletion Likely pathogenic 623193 rs776697039 1:214815868-214815871 1:214642525-214642528
9 CENPF NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter)SNV Likely pathogenic 623194 rs779120472 1:214820552-214820552 1:214647209-214647209
10 CENPF NM_016343.4(CENPF):c.1195-2A>GSNV Likely pathogenic 690279 1:214803875-214803875 1:214630532-214630532
11 CENPF NM_016343.4(CENPF):c.3424A>G (p.Met1142Val)SNV Uncertain significance 830331 rs778072776 1:214815105-214815105 1:214641762-214641762
12 CENPF NM_016343.4(CENPF):c.2936_2937del (p.Leu979fs)deletion Uncertain significance 561185 rs1558182805 1:214814617-214814618 1:214641274-214641275

Expression for Stromme Syndrome

Search GEO for disease gene expression data for Stromme Syndrome.

Pathways for Stromme Syndrome

Pathways related to Stromme Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 PCNT NUP133 CEP57 CENPF

GO Terms for Stromme Syndrome

Cellular components related to Stromme Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.73 PCNT NUP133 COPB2 CEP57 CENPF BICD2
2 cytoskeleton GO:0005856 9.62 PCNT CEP57 CENPF BICD2
3 chromosome, centromeric region GO:0000775 9.46 NUP133 CENPF
4 kinetochore GO:0000776 9.43 NUP133 CENPF
5 condensed chromosome kinetochore GO:0000777 9.4 NUP133 CENPF
6 nuclear pore GO:0005643 9.37 NUP133 BICD2
7 nuclear envelope GO:0005635 9.33 NUP133 CENPF BICD2
8 centrosome GO:0005813 9.26 PCNT CEP57 CENPF BICD2
9 condensed chromosome outer kinetochore GO:0000940 8.62 NUP133 CENPF

Biological processes related to Stromme Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.37 PCNT CEP57
2 mRNA transport GO:0051028 9.32 NUP133 BICD2
3 ciliary basal body-plasma membrane docking GO:0097711 9.26 PCNT CEP57
4 protein transport GO:0015031 9.26 NUP133 COPB2 CENPF BICD2
5 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.16 COPB2 BICD2
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.8 PCNT CEP57 CENPF

Molecular functions related to Stromme Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein complex binding GO:0070840 8.62 CENPF BICD2

Sources for Stromme Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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