SANDSTEF
MCID: SND015
MIFTS: 18

Sandestig-Stefanova Syndrome (SANDSTEF)

Categories: Genetic diseases

Aliases & Classifications for Sandestig-Stefanova Syndrome

MalaCards integrated aliases for Sandestig-Stefanova Syndrome:

Name: Sandestig-Stefanova Syndrome 56 6
Sandstef 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 unrelated female infants (last curated march 2020)
both required supplemental oxygen and feeding tube
both died of central respiratory failure within the first few months of life


HPO:

31
sandestig-stefanova syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sandestig-Stefanova Syndrome

OMIM : 56 Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019). (618804)

MalaCards based summary : Sandestig-Stefanova Syndrome, is also known as sandstef. An important gene associated with Sandestig-Stefanova Syndrome is NUP188 (Nucleoporin 188). Affiliated tissues include liver, and related phenotypes are short neck and wide nasal bridge

Related Diseases for Sandestig-Stefanova Syndrome

Symptoms & Phenotypes for Sandestig-Stefanova Syndrome

Human phenotypes related to Sandestig-Stefanova Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 short neck 31 very rare (1%) HP:0000470
2 wide nasal bridge 31 very rare (1%) HP:0000431
3 eeg abnormality 31 very rare (1%) HP:0002353
4 wide intermamillary distance 31 very rare (1%) HP:0006610
5 high palate 31 very rare (1%) HP:0000218
6 retrognathia 31 very rare (1%) HP:0000278
7 low-set ears 31 very rare (1%) HP:0000369
8 epicanthus 31 very rare (1%) HP:0000286
9 bilateral single transverse palmar creases 31 very rare (1%) HP:0007598
10 microphthalmia 31 very rare (1%) HP:0000568
11 highly arched eyebrow 31 very rare (1%) HP:0002553
12 ventriculomegaly 31 very rare (1%) HP:0002119
13 convex nasal ridge 31 very rare (1%) HP:0000444
14 prominent metopic ridge 31 very rare (1%) HP:0005487
15 respiratory failure 31 very rare (1%) HP:0002878
16 oral cleft 31 very rare (1%) HP:0000202
17 trigonocephaly 31 very rare (1%) HP:0000243
18 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
19 rocker bottom foot 31 very rare (1%) HP:0001838
20 small for gestational age 31 very rare (1%) HP:0001518
21 camptodactyly 31 very rare (1%) HP:0012385
22 developmental cataract 31 very rare (1%) HP:0000519
23 underdeveloped tragus 31 very rare (1%) HP:0011272
24 clinodactyly 31 very rare (1%) HP:0030084
25 narrow forehead 31 very rare (1%) HP:0000341
26 perimembranous ventricular septal defect 31 very rare (1%) HP:0011682
27 delayed cns myelination 31 very rare (1%) HP:0002188
28 congenital microcephaly 31 very rare (1%) HP:0011451
29 muscular ventricular septal defect 31 very rare (1%) HP:0011623
30 laterally extended eyebrow 31 very rare (1%) HP:0011230
31 angulated antihelix 31 very rare (1%) HP:0011236
32 sparse medial eyebrow 31 very rare (1%) HP:0025325
33 intrauterine growth retardation 31 HP:0001511
34 decreased fetal movement 31 HP:0001558

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Growth Other:
intrauterine growth retardation
small for gestational age

Head And Neck Ears:
low-set ears
prominent antihelix
angulated antihelix
hypoplastic tragus
abnormal otoacoustic emissions results

Neurologic Central Nervous System:
ventriculomegaly
lethargy
delayed myelination
hypotonia
thin corpus callosum
more
Skeletal Skull:
trigonocephaly
small fontanel

Muscle Soft Tissue:
hypotonia

Chest External Features:
widely spaced nipples

Prenatal Manifestations Delivery:
preterm delivery

Cardiovascular Heart:
ventricular septal defect (muscular or perimembranous)

Skin Nails Hair Hair:
hypertrichosis (generalized or facial)

Head And Neck Nose:
wide nasal bridge
prominent nasal bridge
convex nasal ridge
wide nasal ridge

Head And Neck Face:
retrognathia
bitemporal narrowing

Head And Neck Eyes:
epicanthus
microphthalmia
arched eyebrows
sparse medial eyebrows
laterally extended eyebrows
more
Head And Neck Head:
trigonocephaly
metopic ridge
microcephaly (prenatal and postnatal)

Skeletal Hands:
camptodactyly
clinodactyly
single palmar crease, bilateral
long gracile fingers

Head And Neck Mouth:
cleft lip/palate
high-arched palate

Skeletal Feet:
rocker-bottom feet
hammer toe

Prenatal Manifestations Movement:
reduced fetal movements

Respiratory Lung:
respiratory failure, central

Clinical features from OMIM:

618804

Drugs & Therapeutics for Sandestig-Stefanova Syndrome

Search Clinical Trials , NIH Clinical Center for Sandestig-Stefanova Syndrome

Genetic Tests for Sandestig-Stefanova Syndrome

Anatomical Context for Sandestig-Stefanova Syndrome

MalaCards organs/tissues related to Sandestig-Stefanova Syndrome:

40
Liver

Publications for Sandestig-Stefanova Syndrome

Articles related to Sandestig-Stefanova Syndrome:

# Title Authors PMID Year
1
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. 56
32275884 2020
2
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? 56
32021605 2020
3
Isotope trapping and positional isotope exchange with rat and chicken liver phosphoenolpyruvate carboxykinases. 6
2021605 1991

Variations for Sandestig-Stefanova Syndrome

ClinVar genetic disease variations for Sandestig-Stefanova Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUP188 NM_015354.3(NUP188):c.337C>T (p.Gln113Ter)SNV Likely pathogenic 810438 9:131720298-131720298 9:128958019-128958019
2 NUP188 NM_015354.3(NUP188):c.287dup (p.Tyr96Ter)duplication Uncertain significance 816694 9:131719270-131719271 9:128956991-128956992

Expression for Sandestig-Stefanova Syndrome

Search GEO for disease gene expression data for Sandestig-Stefanova Syndrome.

Pathways for Sandestig-Stefanova Syndrome

GO Terms for Sandestig-Stefanova Syndrome

Sources for Sandestig-Stefanova 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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