MCID: PTT059
MIFTS: 41

Pettigrew Syndrome

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Pettigrew Syndrome

MalaCards integrated aliases for Pettigrew Syndrome:

Name: Pettigrew Syndrome 57 12 75 29 6
Mrxs21 57 12 75
Mrx59 57 12 75
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome 12 59
Mental Retardation, X-Linked Syndromic, Fried Type 13 40
Syndromic X-Linked Intellectual Disability 5 12 15
Mental Retardation, X-Linked Syndromic 5 57 12
Fried Syndrome 12 59
Mrxs5 57 75
Mrxsf 57 75
Pgs 57 75
Mental Retardation, X-Linked, with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures 57
Mental Retardation X-Linked with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures 75
X-Linked Metal Retardation with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures 12
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome 59
Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures 73
Mental Retardation, X-Linked, Syndromic, Fried Type; Mrxsf 57
Mental Retardation, X-Linked, Syndromic, Fried Type 57
Mental Retardation, X-Linked, Syndromic 21; Mrxs21 57
Mental Retardation, X-Linked, Syndromic 5; Mrxs5 57
Syndromic X-Linked Mental Retardation Fried Type 12
Mental Retardation X-Linked Syndromic Fried Type 75
Mental Retardation, X-Linked, Syndromic 21 57
Mental Retardation, X-Linked, Syndromic 5 57
Syndromic X-Linked Mental Retardation 21 12
Mental Retardation X-Linked Syndromic 21 75
Mental Retardation X-Linked Syndromic 5 75
Mental Retardation, X-Linked 59; Mrx59 57
Mental Retardation, X-Linked 59 73

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;
fried syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
onset in infancy
additional features are variably present

Inheritance:
x-linked recessive


HPO:

32
pettigrew syndrome:
Onset and clinical course infantile onset
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Pettigrew Syndrome

OMIM : 57 Pettigrew syndrome is characterized by mental retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by Cacciagli et al., 2014). See 311510 for another X-linked mental retardation syndrome associated with basal ganglia disease (Waisman syndrome). See 220219 for another mental retardation syndrome with Dandy-Walker malformation. (304340)

MalaCards based summary : Pettigrew Syndrome, also known as mrxs21, is related to dandy-walker malformation with intellectual disability, basal ganglia disease and seizures and pemphigoid gestationis, and has symptoms including muscle spasticity, seizures and gait ataxia. An important gene associated with Pettigrew Syndrome is AP1S2 (Adaptor Related Protein Complex 1 Subunit Sigma 2), and among its related pathways/superpathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Clathrin derived vesicle budding. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are macrocephaly and high palate

UniProtKB/Swiss-Prot : 75 Pettigrew syndrome: A syndrome characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy- Walker malformation, seizures, and iron or calcium deposition in the brain. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has material basis in mutation in the AP1S2 gene on chromosome Xp22.

Related Diseases for Pettigrew Syndrome

Diseases related to Pettigrew Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 11.7
2 pemphigoid gestationis 11.5
3 alacrima, achalasia, and mental retardation syndrome 9.9
4 basal ganglia disease 9.9
5 dandy-walker complex 9.9

Graphical network of the top 20 diseases related to Pettigrew Syndrome:



Diseases related to Pettigrew Syndrome

Symptoms & Phenotypes for Pettigrew Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
choreoathetosis
mental retardation, severe
ataxic gait
more
Skeletal Spine:
scoliosis

Head And Neck Face:
coarse facial features
prominent forehead
long face
prominent jaw

Head And Neck Eyes:
deep-set eyes

Skeletal:
joint contractures

Neurologic Peripheral Nervous System:
hyperreflexia

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
large mouth
full lips

Head And Neck Nose:
large nose


Clinical features from OMIM:

304340

Human phenotypes related to Pettigrew Syndrome:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 hydrocephalus 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000238
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001288
6 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
7 cerebral calcification 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002514
8 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
9 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
10 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
11 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
12 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
13 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001263
14 thickened calvaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002684
15 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
16 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
17 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
18 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0003202
19 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
20 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
21 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
22 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
23 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
24 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
25 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
26 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
27 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
28 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
29 long face 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000276
30 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%) HP:0002187
31 aggressive behavior 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000718
32 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
33 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
34 long nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003189
35 abnormality of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001317
36 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
37 spastic diplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001264
38 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
39 abnormality of the optic nerve 59 32 occasional (7.5%) Occasional (29-5%) HP:0000587
40 poor speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002465
41 short chin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000331
42 seizures 32 HP:0001250
43 spasticity 32 HP:0001257
44 hyperreflexia 32 HP:0001347
45 self-injurious behavior 32 HP:0100716
46 mandibular prognathia 32 HP:0000303
47 abnormal facial shape 59 Very frequent (99-80%)
48 thick vermilion border 32 HP:0012471
49 sensorineural hearing impairment 32 HP:0000407
50 flexion contracture 32 HP:0001371

UMLS symptoms related to Pettigrew Syndrome:


muscle spasticity, seizures, gait ataxia

Drugs & Therapeutics for Pettigrew Syndrome

Search Clinical Trials , NIH Clinical Center for Pettigrew Syndrome

Genetic Tests for Pettigrew Syndrome

Genetic tests related to Pettigrew Syndrome:

# Genetic test Affiliating Genes
1 Pettigrew Syndrome 29 AP1S2

Anatomical Context for Pettigrew Syndrome

MalaCards organs/tissues related to Pettigrew Syndrome:

41
Brain, Eye, Cerebellum, Skeletal Muscle

Publications for Pettigrew Syndrome

Articles related to Pettigrew Syndrome:

# Title Authors Year
1
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013

Variations for Pettigrew Syndrome

ClinVar genetic disease variations for Pettigrew Syndrome:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 AP1S2 NM_003916.4(AP1S2): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894739 GRCh37 Chromosome X, 15870542: 15870542
2 AP1S2 NM_003916.4(AP1S2): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894739 GRCh38 Chromosome X, 15852419: 15852419
3 AP1S2 NM_003916.4(AP1S2): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs104894735 GRCh37 Chromosome X, 15870494: 15870494
4 AP1S2 NM_003916.4(AP1S2): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs104894735 GRCh38 Chromosome X, 15852371: 15852371
5 AP1S2 NM_003916.4(AP1S2): c.180-5_180-2delTACA deletion Pathogenic rs587776738 GRCh37 Chromosome X, 15864136: 15864139
6 AP1S2 NM_003916.4(AP1S2): c.180-5_180-2delTACA deletion Pathogenic rs587776738 GRCh38 Chromosome X, 15846013: 15846016
7 AP1S2 NM_003916.4(AP1S2): c.288+5G> A single nucleotide variant Pathogenic rs587776739 GRCh37 Chromosome X, 15864021: 15864021
8 AP1S2 NM_003916.4(AP1S2): c.288+5G> A single nucleotide variant Pathogenic rs587776739 GRCh38 Chromosome X, 15845898: 15845898
9 AP1S2 NM_003916.4(AP1S2): c.226G> T (p.Glu76Ter) single nucleotide variant Pathogenic rs137852213 GRCh37 Chromosome X, 15864088: 15864088
10 AP1S2 NM_003916.4(AP1S2): c.226G> T (p.Glu76Ter) single nucleotide variant Pathogenic rs137852213 GRCh38 Chromosome X, 15845965: 15845965
11 AP1S2 NM_003916.4(AP1S2): c.426+1G> T single nucleotide variant Pathogenic rs587777542 GRCh37 Chromosome X, 15863501: 15863501
12 AP1S2 NM_003916.4(AP1S2): c.426+1G> T single nucleotide variant Pathogenic rs587777542 GRCh38 Chromosome X, 15845378: 15845378
13 AP1S2 NM_003916.4(AP1S2): c.1-3C> A single nucleotide variant Pathogenic rs1060499672 GRCh38 Chromosome X, 15852527: 15852527
14 AP1S2 NM_003916.4(AP1S2): c.1-3C> A single nucleotide variant Pathogenic rs1060499672 GRCh37 Chromosome X, 15870650: 15870650
15 CUL4B NM_003588.3(CUL4B): c.2687G> A (p.Arg896Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 120526816: 120526816
16 CUL4B NM_003588.3(CUL4B): c.2687G> A (p.Arg896Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 119660671: 119660671
17 AP1S2 NM_003916.4(AP1S2): c.281delT (p.Phe94Serfs) deletion Pathogenic GRCh38 Chromosome X, 15845910: 15845910
18 AP1S2 NM_003916.4(AP1S2): c.281delT (p.Phe94Serfs) deletion Pathogenic GRCh37 Chromosome X, 15864033: 15864033

Expression for Pettigrew Syndrome

Search GEO for disease gene expression data for Pettigrew Syndrome.

Pathways for Pettigrew Syndrome

GO Terms for Pettigrew Syndrome

Cellular components related to Pettigrew Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.58 AP1S1 AP1S2 DMD
2 cytoplasmic vesicle membrane GO:0030659 9.37 AP1S1 AP1S2
3 trans-Golgi network membrane GO:0032588 9.32 AP1S1 AP1S2
4 clathrin-coated pit GO:0005905 9.26 AP1S1 AP1S2
5 membrane coat GO:0030117 9.16 AP1S1 AP1S2
6 lysosomal membrane GO:0005765 9.13 AP1S1 AP1S2 AP5B1
7 AP-type membrane coat adaptor complex GO:0030119 8.62 AP1S2 AP5B1

Biological processes related to Pettigrew Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.32 AP1S1 AP1S2
2 vesicle-mediated transport GO:0016192 9.26 AP1S1 AP1S2
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.16 AP1S1 AP1S2
4 protein transport GO:0015031 9.13 AP1S1 AP1S2 AP5B1
5 regulation of defense response to virus by virus GO:0050690 8.62 AP1S1 AP1S2

Molecular functions related to Pettigrew Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transporter activity GO:0008565 8.62 AP1S1 AP1S2

Sources for Pettigrew 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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