SHAPNS
MCID: SHS001
MIFTS: 26

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 56 52 73 29 6
Shapns 56 73
Asxl2/shashi-Pena Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

31
shashi-pena syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Shashi-Pena Syndrome

NIH Rare Diseases : 52 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 : 56 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 : 73 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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 osteoporosis 31 occasional (7.5%) HP:0000939
3 hypoglycemia 31 occasional (7.5%) HP:0001943
4 accelerated skeletal maturation 31 occasional (7.5%) HP:0005616
5 macrocephaly 31 HP:0000256
6 hypertelorism 31 HP:0000316
7 low-set ears 31 HP:0000369
8 intellectual disability 31 HP:0001249
9 scoliosis 31 HP:0002650
10 ptosis 31 HP:0000508
11 kyphosis 31 HP:0002808
12 global developmental delay 31 HP:0001263
13 delayed speech and language development 31 HP:0000750
14 feeding difficulties in infancy 31 HP:0008872
15 broad nasal tip 31 HP:0000455
16 generalized hypotonia 31 HP:0001290
17 highly arched eyebrow 31 HP:0002553
18 retrognathia 31 HP:0000278
19 atrial septal defect 31 HP:0001631
20 nevus 31 HP:0003764
21 ventriculomegaly 31 HP:0002119
22 posteriorly rotated ears 31 HP:0000358
23 proptosis 31 HP:0000520
24 long face 31 HP:0000276
25 deep palmar crease 31 HP:0006191

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Eye, Brain, Heart, Liver

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. 56 6
27693232 2016
2
ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis. 56
26051940 2015
3
Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx. 56
19270745 2009

Variations for Shashi-Pena Syndrome

ClinVar genetic disease variations for Shashi-Pena Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASXL2 NM_018263.6(ASXL2):c.2971_2974del (p.Gly991fs)deletion Pathogenic 268126 rs886041069 2:25966232-25966235 2:25743363-25743366
2 ASXL2 NM_018263.6(ASXL2):c.1288G>T (p.Glu430Ter)SNV Pathogenic 268127 rs886041070 2:25973137-25973137 2:25750268-25750268
3 ASXL2 NM_018263.6(ASXL2):c.2424del (p.Thr809fs)deletion Pathogenic 268122 rs886041065 2:25966782-25966782 2:25743913-25743913
4 ASXL2 NM_018263.6(ASXL2):c.2081dup (p.Gly696fs)duplication Pathogenic 268123 rs886041066 2:25967124-25967125 2:25744255-25744256
5 ASXL2 NM_018263.6(ASXL2):c.1225_1228del (p.Pro409fs)deletion Pathogenic 268124 rs886041067 2:25973197-25973200 2:25750328-25750331
6 ASXL2 NM_018263.6(ASXL2):c.2472del (p.Ser825fs)deletion Pathogenic 268125 rs886041068 2:25966734-25966734 2:25743865-25743865
7 ASXL2 NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)SNV Pathogenic 666552 2:25973197-25973197 2:25750328-25750328
8 ASXL2 NM_018263.6(ASXL2):c.1240_1241GT[1] (p.Ser415fs)short repeat Pathogenic 666592 2:25973182-25973183 2:25750313-25750314
9 ASXL2 NM_018263.6(ASXL2):c.2530G>C (p.Ala844Pro)SNV Uncertain significance 801654 2:25966676-25966676 2:25743807-25743807
10 ASXL2 NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr)SNV Uncertain significance 634618 rs773402627 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 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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