MCID: SHS001
MIFTS: 22

Shashi-Pena Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Shashi-Pena Syndrome

MalaCards integrated aliases for Shashi-Pena Syndrome:

Name: Shashi-Pena Syndrome 57 53 75 6
Shapns 57 75
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:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal dominant inheritance


Classifications:



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 macrocephaly and long face

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 : 75 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

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 Face:
retrognathia
long face

Head And Neck Nose:
broad nasal tip

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

Cardiovascular Heart:
atrial septal defect

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

Human phenotypes related to Shashi-Pena Syndrome:

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

Drugs & Therapeutics for Shashi-Pena Syndrome

Interventional clinical trials:


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

Search NIH Clinical Center for Shashi-Pena Syndrome

Genetic Tests for Shashi-Pena Syndrome

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

Variations for Shashi-Pena Syndrome

ClinVar genetic disease variations for Shashi-Pena Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASXL2 NM_018263.4(ASXL2): c.2424delC (p.Thr809Profs) deletion Pathogenic rs886041065 GRCh38 Chromosome 2, 25743913: 25743913
2 ASXL2 NM_018263.4(ASXL2): c.2424delC (p.Thr809Profs) deletion Pathogenic rs886041065 GRCh37 Chromosome 2, 25966782: 25966782
3 ASXL2 NM_018263.5(ASXL2): c.2081dupG (p.Gly696Argfs) duplication Pathogenic rs886041066 GRCh38 Chromosome 2, 25744256: 25744256
4 ASXL2 NM_018263.5(ASXL2): c.2081dupG (p.Gly696Argfs) duplication Pathogenic rs886041066 GRCh37 Chromosome 2, 25967125: 25967125
5 ASXL2 NM_018263.5(ASXL2): c.1225_1228delCCAA (p.Pro409Asnfs) deletion Pathogenic rs886041067 GRCh37 Chromosome 2, 25973197: 25973200
6 ASXL2 NM_018263.5(ASXL2): c.1225_1228delCCAA (p.Pro409Asnfs) deletion Pathogenic rs886041067 GRCh38 Chromosome 2, 25750328: 25750331
7 ASXL2 NM_018263.5(ASXL2): c.2472delC (p.Ser825Valfs) deletion Pathogenic rs886041068 GRCh37 Chromosome 2, 25966734: 25966734
8 ASXL2 NM_018263.5(ASXL2): c.2472delC (p.Ser825Valfs) deletion Pathogenic rs886041068 GRCh38 Chromosome 2, 25743865: 25743865
9 ASXL2 NM_018263.5(ASXL2): c.2971_2974delGGAG (p.Gly991Argfs) deletion Pathogenic rs886041069 GRCh38 Chromosome 2, 25743363: 25743366
10 ASXL2 NM_018263.5(ASXL2): c.2971_2974delGGAG (p.Gly991Argfs) deletion Pathogenic rs886041069 GRCh37 Chromosome 2, 25966232: 25966235
11 ASXL2 NM_018263.5(ASXL2): c.1288G> T (p.Glu430Ter) single nucleotide variant Pathogenic rs886041070 GRCh37 Chromosome 2, 25973137: 25973137
12 ASXL2 NM_018263.5(ASXL2): c.1288G> T (p.Glu430Ter) single nucleotide variant Pathogenic rs886041070 GRCh38 Chromosome 2, 25750268: 25750268

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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