STROMS
MCID: STR094
MIFTS: 36

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 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). 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 Stromme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal... more...

Related Diseases for Stromme Syndrome

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 kashani strom utley syndrome 12.3
2 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature 11.2
3 obsolete: pulmonary aortic stenosis obstructive uropathy 11.2
4 zollinger-ellison syndrome 10.6
5 microcephaly 10.4
6 jejunal atresia 10.3
7 intestinal atresia 10.3
8 microphthalmia 10.3
9 asthma 10.3
10 holoprosencephaly 10.1
11 ciliopathy 10.1
12 alobar holoprosencephaly 10.1
13 megalocornea 10.1
14 autosomal recessive disease 10.1
15 sclerocornea 10.1
16 polyhydramnios 10.1

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
optic nerve hypoplasia
microphthalmia
iris coloboma
sclerocornea
more
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
agenesis of the corpus callosum
learning disabilities (in some patients)

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
hydronephrosis
renal hypodysplasia

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 Face:
micrognathia

Head And Neck Mouth:
cleft palate
wide mouth

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

MGI Mouse Phenotypes related to Stromme Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 ALB CENPF

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. 61 56 6
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. 56 6
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CENPF NM_016343.4(CENPF):c.574-2A>CSNV Pathogenic 190386 rs376767238 1:214793996-214793996 1:214620653-214620653
2 CENPF NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)SNV Pathogenic 190387 rs786205697 1:214830482-214830482 1:214657139-214657139
3 CENPF NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)SNV Pathogenic 190385 rs367624766 1:214813425-214813425 1:214640082-214640082
4 CENPF NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter)SNV Pathogenic 224500 rs200976140 1:214814415-214814415 1:214641072-214641072
5 CENPF NM_016343.4(CENPF):c.171_199del (p.Asn57fs)deletion Pathogenic 224501 rs757575602 1:214788177-214788205 1:214614834-214614862
6 CENPF NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)SNV Pathogenic 224502 rs869312748 1:214837072-214837072 1:214663729-214663729
7 CENPF NM_016343.4(CENPF):c.5920dup (p.Thr1974fs)duplication Pathogenic 619138 rs757531591 1:214818825-214818826 1:214645482-214645483
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.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

GO Terms for Stromme Syndrome

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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