SANDSTEF
MCID: SND015
MIFTS: 21

Sandestig-Stefanova Syndrome (SANDSTEF)

Categories: Genetic diseases

Aliases & Classifications for Sandestig-Stefanova Syndrome

MalaCards integrated aliases for Sandestig-Stefanova Syndrome:

Name: Sandestig-Stefanova Syndrome 57 73 6
Sandstef 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
patients die in infancy or early childhood due to central respiratory failure


HPO:

31
sandestig-stefanova syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sandestig-Stefanova Syndrome

UniProtKB/Swiss-Prot : 73 Sandestig-Stefanova syndrome: An autosomal recessive syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital bilateral cataract, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, specific brain changes such as loss of periventricular white matter, thin corpus callosum, and delayed myelinization.

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 brain and cerebellum, and related phenotypes are eeg abnormality and high palate

OMIM® : 57 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) (Updated 05-Mar-2021)

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 eeg abnormality 31 very rare (1%) HP:0002353
2 high palate 31 very rare (1%) HP:0000218
3 short neck 31 very rare (1%) HP:0000470
4 wide nasal bridge 31 very rare (1%) HP:0000431
5 wide intermamillary distance 31 very rare (1%) HP:0006610
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 sparse medial eyebrow 31 very rare (1%) HP:0025325
32 angulated antihelix 31 very rare (1%) HP:0011236
33 intrauterine growth retardation 31 HP:0001511
34 decreased fetal movement 31 HP:0001558

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
intellectual disability, severe
ventriculomegaly
lethargy
more
Head And Neck Neck:
short neck

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

Laboratory Abnormalities:
hypoglycemia

Head And Neck Face:
retrognathia
micrognathia
bitemporal narrowing

Skin Nails Hair Nails:
hypoplastic toenails

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Skin:
sacral dimple
single palmar creases

Head And Neck Head:
trigonocephaly
metopic ridge
microcephaly, progressive (prenatal and postnatal)

Hematology:
pancytopenia

Skeletal Hands:
camptodactyly
clinodactyly
short hands
single palmar crease, bilateral
long gracile fingers
more
Muscle Soft Tissue:
hypotonia

Chest External Features:
widely spaced nipples

Genitourinary Internal Genitalia Female:
streak ovaries

Skeletal Limbs:
contractures, mild (knees and elbows)

Skeletal Spine:
scoliosis
sacral dimple

Endocrine Features:
hypothyroidism

Head And Neck Eyes:
optic atrophy
epicanthus
myopia
microphthalmia
short palpebral fissures
more
Growth Other:
intrauterine growth retardation
small for gestational age

Head And Neck Ears:
low-set ears
prominent antihelix
angulated antihelix
hypoplastic tragus
flattened pinna
more
Cardiovascular Heart:
bicuspid aortic valve
patent foramen ovale
ventricular septal defect (muscular or perimembranous)
small interatrial communications

Cardiovascular Vascular:
patent ductus arteriosus
partial anomalous pulmonary venous return

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

Skeletal Skull:
trigonocephaly
asymmetric skull
small fontanel

Abdomen Spleen:
polysplenia

Skeletal Feet:
broad hallux
short feet
overlapping toes
rocker-bottom feet
hammer toe
more
Respiratory Lung:
pulmonary capillary hemangiomatosis
respiratory failure, central

Prenatal Manifestations Delivery:
preterm delivery

Prenatal Manifestations Movement:
reduced fetal movements

Skin Nails Hair Hair:
hypertrichosis (generalized or facial)

Clinical features from OMIM®:

618804 (Updated 05-Mar-2021)

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
Brain, Cerebellum

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. 6 57
32275884 2020
2
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome? 57 6
32021605 2020

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.287dup (p.Tyr96Ter) Duplication Pathogenic 816694 rs1588269590 9:131719270-131719271 9:128956991-128956992
2 NUP188 NM_015354.3(NUP188):c.337C>T (p.Gln113Ter) SNV Pathogenic 810438 rs1588270041 9:131720298-131720298 9:128958019-128958019
3 NUP188 NM_015354.3(NUP188):c.904_907del (p.Ile302fs) Deletion Pathogenic 918007 9:131731783-131731786 9:128969504-128969507
4 NUP188 NM_015354.3(NUP188):c.3144C>G (p.Tyr1048Ter) SNV Pathogenic 918008 9:131757191-131757191 9:128994912-128994912
5 NUP188 NM_015354.3(NUP188):c.5032dup (p.Arg1678fs) Duplication Pathogenic 918009 9:131768601-131768602 9:129006322-129006323
6 NUP188 NM_015354.3(NUP188):c.1890G>A (p.Trp630Ter) SNV Pathogenic 918010 9:131745758-131745758 9:128983479-128983479
7 NUP188 NM_015354.3(NUP188):c.4078C>T (p.Gln1360Ter) SNV Pathogenic 918011 9:131764196-131764196 9:129001917-129001917

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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