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 57 20 72 29 6
Shapns 57 72
Asxl2/shashi-Pena Syndrome 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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

GARD : 20 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, heart and eye, and related phenotypes are hypoglycemia 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 hypoglycemia 31 occasional (7.5%) HP:0001943
2 osteoporosis 31 occasional (7.5%) HP:0000939
3 accelerated skeletal maturation 31 occasional (7.5%) HP:0005616
4 seizure 31 occasional (7.5%) HP:0001250
5 macrocephaly 31 HP:0000256
6 intellectual disability 31 HP:0001249
7 scoliosis 31 HP:0002650
8 ptosis 31 HP:0000508
9 kyphosis 31 HP:0002808
10 global developmental delay 31 HP:0001263
11 hypertelorism 31 HP:0000316
12 delayed speech and language development 31 HP:0000750
13 feeding difficulties in infancy 31 HP:0008872
14 retrognathia 31 HP:0000278
15 low-set ears 31 HP:0000369
16 atrial septal defect 31 HP:0001631
17 nevus 31 HP:0003764
18 highly arched eyebrow 31 HP:0002553
19 long face 31 HP:0000276
20 ventriculomegaly 31 HP:0002119
21 proptosis 31 HP:0000520
22 deep palmar crease 31 HP:0006191
23 posteriorly rotated ears 31 HP:0000358
24 broad nasal tip 31 HP:0000455
25 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
enlarged head circumference

Skeletal Spine:
scoliosis
kyphosis

Abdomen Gastrointestinal:
feeding difficulties in infancy

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

Head And Neck Nose:
broad nasal tip

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features

Skin Nails Hair Skin:
capillary malformations
nevus flammeus, glabellar

Endocrine Features:
hypoglycemia, episodic (in some patients)

Neurologic Central Nervous System:
intellectual disability
ventriculomegaly
seizures (in some patients)
delayed psychomotor development
delayed speech
more
Head And Neck Eyes:
ptosis
hypertelorism
proptosis
prominent eyes
arched eyebrows

Head And Neck Face:
retrognathia
long face

Cardiovascular Heart:
atrial septal defect

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
deep palmar creases

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

Clinical features from OMIM®:

617190 (Updated 20-May-2021)

Drugs & Therapeutics for Shashi-Pena Syndrome

Search Clinical Trials , 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, Heart, Eye, Brain

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. 6 57
27693232 2016
2
ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis. 57
26051940 2015
3
Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx. 57
19270745 2009
4
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. 61
33751773 2021

Variations for Shashi-Pena Syndrome

ClinVar genetic disease variations for Shashi-Pena Syndrome:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASXL2 NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter) SNV Pathogenic 666552 rs1574395479 GRCh37: 2:25973197-25973197
GRCh38: 2:25750328-25750328
2 ASXL2 NM_018263.6(ASXL2):c.1240_1241GT[1] (p.Ser415fs) Microsatellite Pathogenic 666592 rs1574395471 GRCh37: 2:25973182-25973183
GRCh38: 2:25750313-25750314
3 ASXL2 NM_018263.6(ASXL2):c.2424del (p.Thr809fs) Deletion Pathogenic 268122 rs886041065 GRCh37: 2:25966782-25966782
GRCh38: 2:25743913-25743913
4 ASXL2 NM_018263.6(ASXL2):c.2472del (p.Ser825fs) Deletion Pathogenic 268125 rs886041068 GRCh37: 2:25966734-25966734
GRCh38: 2:25743865-25743865
5 ASXL2 NM_018263.6(ASXL2):c.2081dup (p.Gly696fs) Duplication Pathogenic 268123 rs886041066 GRCh37: 2:25967124-25967125
GRCh38: 2:25744255-25744256
6 ASXL2 NM_018263.6(ASXL2):c.2971_2974del (p.Gly991fs) Deletion Pathogenic 268126 rs886041069 GRCh37: 2:25966232-25966235
GRCh38: 2:25743363-25743366
7 ASXL2 NM_018263.6(ASXL2):c.1225_1228del (p.Pro409fs) Deletion Pathogenic 268124 rs886041067 GRCh37: 2:25973197-25973200
GRCh38: 2:25750328-25750331
8 ASXL2 NM_018263.6(ASXL2):c.1288G>T (p.Glu430Ter) SNV Pathogenic 268127 rs886041070 GRCh37: 2:25973137-25973137
GRCh38: 2:25750268-25750268
9 ASXL2 NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr) SNV Uncertain significance 634618 rs773402627 GRCh37: 2:25965088-25965088
GRCh38: 2:25742219-25742219
10 ASXL2 NM_018263.6(ASXL2):c.2530G>C (p.Ala844Pro) SNV Uncertain significance 801654 rs1444386149 GRCh37: 2:25966676-25966676
GRCh38: 2:25743807-25743807
11 ASXL2 NM_018263.6(ASXL2):c.620C>T (p.Pro207Leu) SNV Uncertain significance 930582 GRCh37: 2:25991622-25991622
GRCh38: 2:25768753-25768753
12 ASXL2 NM_018263.6(ASXL2):c.2847T>G (p.Asn949Lys) SNV Uncertain significance 931398 GRCh37: 2:25966359-25966359
GRCh38: 2:25743490-25743490
13 ASXL2 NM_018263.6(ASXL2):c.2591A>C (p.Asn864Thr) SNV Uncertain significance 989310 GRCh37: 2:25966615-25966615
GRCh38: 2:25743746-25743746
14 ASXL2 NM_018263.6(ASXL2):c.2138G>A (p.Gly713Asp) SNV Uncertain significance 1029688 GRCh37: 2:25967068-25967068
GRCh38: 2:25744199-25744199
15 ASXL2 NM_018263.6(ASXL2):c.2609C>T (p.Ala870Val) SNV Uncertain significance 1030642 GRCh37: 2:25966597-25966597
GRCh38: 2:25743728-25743728
16 ASXL2 NM_018263.6(ASXL2):c.3397C>T (p.Arg1133Trp) SNV Uncertain significance 1032031 GRCh37: 2:25965809-25965809
GRCh38: 2:25742940-25742940
17 ASXL2 NM_018263.6(ASXL2):c.3491C>T (p.Thr1164Ile) SNV Uncertain significance 1032032 GRCh37: 2:25965715-25965715
GRCh38: 2:25742846-25742846
18 ASXL2 NM_018263.6(ASXL2):c.3932T>G (p.Leu1311Arg) SNV Uncertain significance 1032033 GRCh37: 2:25965274-25965274
GRCh38: 2:25742405-25742405

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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