SHAPNS
MCID: SHS001
MIFTS: 24

Shashi-Pena Syndrome (SHAPNS)

Categories: Bone diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Shashi-Pena Syndrome

MalaCards integrated aliases for Shashi-Pena Syndrome:

Name: Shashi-Pena Syndrome 57 53 74 29 6
Shapns 57 74
Asxl2/shashi-Pena Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

32
shashi-pena syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617190
MeSH 44 D065886

Summaries for Shashi-Pena Syndrome

NIH Rare Diseases : 53 Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). Described features include tall stature, a large head (macrocephaly), deep palmar creases, and distinct facial features. These features include a port-wine birthmark on the forehead (glabellar nevus flammeus), widely spaced eyes (hypertelorism), arched eyebrows, prominent eyes, a broad nasal tip and minor ear abnormalities. Some patients may also have heart abnormalities (such as atrial septal defect), feeding difficulties, changes in bone mineral density, advanced bone age, aggressive and/or autistic behavior and/or seizures. MRI of the brain may show a loss of neuronal cells (cerebral atrophy). Blood exams may show episodes of low sugar (hypoglycemia), and in some cases, elevated liver enzymes (transaminases), high levels of insulin (hyperinsulinemia), and high fat levels (hyperlipidemia). Shashi-Pena syndrome is caused by variations (mutations) in the ASXL2 gene, which is important for neurologic and bone development, heart function, and glucose and lipid metabolism. Treatment depends on the symptoms and may include medication and behavioral therapy, as well as surgical procedures if needed.

MalaCards based summary : Shashi-Pena Syndrome, is also known as shapns. An important gene associated with Shashi-Pena Syndrome is ASXL2 (ASXL Transcriptional Regulator 2). Affiliated tissues include bone, eye and brain, and related phenotypes are seizures and osteoporosis

OMIM : 57 Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016). (617190)

UniProtKB/Swiss-Prot : 74 Shashi-Pena syndrome: An autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures.

Related Diseases for Shashi-Pena Syndrome

Symptoms & Phenotypes for Shashi-Pena Syndrome

Human phenotypes related to Shashi-Pena Syndrome:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 osteoporosis 32 occasional (7.5%) HP:0000939
3 hypoglycemia 32 occasional (7.5%) HP:0001943
4 accelerated skeletal maturation 32 occasional (7.5%) HP:0005616
5 macrocephaly 32 HP:0000256
6 hypertelorism 32 HP:0000316
7 low-set ears 32 HP:0000369
8 ptosis 32 HP:0000508
9 intellectual disability 32 HP:0001249
10 scoliosis 32 HP:0002650
11 kyphosis 32 HP:0002808
12 global developmental delay 32 HP:0001263
13 delayed speech and language development 32 HP:0000750
14 feeding difficulties in infancy 32 HP:0008872
15 broad nasal tip 32 HP:0000455
16 generalized hypotonia 32 HP:0001290
17 highly arched eyebrow 32 HP:0002553
18 retrognathia 32 HP:0000278
19 atrial septal defect 32 HP:0001631
20 nevus 32 HP:0003764
21 ventriculomegaly 32 HP:0002119
22 long face 32 HP:0000276
23 proptosis 32 HP:0000520
24 deep palmar crease 32 HP:0006191
25 posteriorly rotated ears 32 HP:0000358

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
enlarged head circumference

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Nose:
broad nasal tip

Cardiovascular Heart:
atrial septal defect

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Skeletal Hands:
deep palmar creases

Endocrine Features:
hypoglycemia, episodic (in some patients)

Head And Neck Eyes:
hypertelorism
ptosis
proptosis
prominent eyes
arched eyebrows

Neurologic Central Nervous System:
intellectual disability
ventriculomegaly
delayed psychomotor development
seizures (in some patients)
delayed speech
more
Abdomen Gastrointestinal:
feeding difficulties in infancy

Head And Neck Face:
retrognathia
long face

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Skin:
capillary malformations
nevus flammeus, glabellar

Skeletal:
osteoporosis (in some patients)
advanced bone age (in some patients)
fractures (in some patients)

Clinical features from OMIM:

617190

Drugs & Therapeutics for Shashi-Pena Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry Recruiting NCT03303716

Search NIH Clinical Center for Shashi-Pena Syndrome

Genetic Tests for Shashi-Pena Syndrome

Genetic tests related to Shashi-Pena Syndrome:

# Genetic test Affiliating Genes
1 Shashi-Pena Syndrome 29 ASXL2

Anatomical Context for Shashi-Pena Syndrome

MalaCards organs/tissues related to Shashi-Pena Syndrome:

41
Bone, Eye, Brain, Liver, Heart

Publications for Shashi-Pena Syndrome

Articles related to Shashi-Pena Syndrome:

# Title Authors PMID Year
1
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. 8 71
27693232 2016
2
ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis. 8
26051940 2015
3
Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx. 8
19270745 2009

Variations for Shashi-Pena Syndrome

ClinVar genetic disease variations for Shashi-Pena Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASXL2 NM_018263.6(ASXL2): c.2424del (p.Thr809fs) deletion Pathogenic rs886041065 2:25966782-25966782 2:25743913-25743913
2 ASXL2 NM_018263.6(ASXL2): c.2081dup (p.Gly696fs) duplication Pathogenic rs886041066 2:25967125-25967125 2:25744256-25744256
3 ASXL2 NM_018263.6(ASXL2): c.1225_1228del (p.Pro409fs) deletion Pathogenic rs886041067 2:25973197-25973200 2:25750328-25750331
4 ASXL2 NM_018263.6(ASXL2): c.2472del (p.Ser825fs) deletion Pathogenic rs886041068 2:25966734-25966734 2:25743865-25743865
5 ASXL2 NM_018263.6(ASXL2): c.2971_2974del (p.Gly991fs) deletion Pathogenic rs886041069 2:25966232-25966235 2:25743363-25743366
6 ASXL2 NM_018263.6(ASXL2): c.1288G> T (p.Glu430Ter) single nucleotide variant Pathogenic rs886041070 2:25973137-25973137 2:25750268-25750268
7 ASXL2 NM_018263.6(ASXL2): c.4118T> C (p.Met1373Thr) single nucleotide variant Uncertain significance 2:25965088-25965088 2:25742219-25742219

Expression for Shashi-Pena Syndrome

Search GEO for disease gene expression data for Shashi-Pena Syndrome.

Pathways for Shashi-Pena Syndrome

GO Terms for Shashi-Pena Syndrome

Sources for Shashi-Pena Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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