SHNS
MCID: SHH004
MIFTS: 30

Shaheen Syndrome (SHNS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Shaheen Syndrome

MalaCards integrated aliases for Shaheen Syndrome:

Name: Shaheen Syndrome 57 58 72 29 6 39 70
Shns 57 72
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three families have been reported (last curated july 2013)


HPO:

31
shaheen syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Rare odontological diseases


Summaries for Shaheen Syndrome

OMIM® : 57 Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013). (615328) (Updated 20-May-2021)

MalaCards based summary : Shaheen Syndrome, also known as shns, is related to pachyonychia congenita 3. An important gene associated with Shaheen Syndrome is COG6 (Component Of Oligomeric Golgi Complex 6). Affiliated tissues include hypothalamus, prostate and heart, and related phenotypes are intellectual disability and recurrent respiratory infections

UniProtKB/Swiss-Prot : 72 Shaheen syndrome: An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.

Related Diseases for Shaheen Syndrome

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 3 10.0

Symptoms & Phenotypes for Shaheen Syndrome

Human phenotypes related to Shaheen Syndrome:

58 31 (showing 17, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
3 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
6 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
7 delayed social development 58 31 frequent (33%) Frequent (79-30%) HP:0012434
8 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
9 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
10 recurrent fever 58 31 frequent (33%) Frequent (79-30%) HP:0001954
11 palmoplantar hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000972
12 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
13 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
14 postnatal microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0005484
15 mild microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0040196
16 microcephaly 31 occasional (7.5%) HP:0000252
17 abnormal isoelectric focusing of serum transferrin 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
hypohidrosis
hyperkeratosis of the palms and soles
normal numbers of sweat glands

Head And Neck Teeth:
enamel hypoplasia
dental caries

Neurologic Central Nervous System:
mental retardation
poor speech development

Head And Neck Head:
microcephaly, borderline, acquired (in some patients)

Clinical features from OMIM®:

615328 (Updated 20-May-2021)

Drugs & Therapeutics for Shaheen Syndrome

Search Clinical Trials , NIH Clinical Center for Shaheen Syndrome

Genetic Tests for Shaheen Syndrome

Genetic tests related to Shaheen Syndrome:

# Genetic test Affiliating Genes
1 Shaheen Syndrome 29 COG6

Anatomical Context for Shaheen Syndrome

MalaCards organs/tissues related to Shaheen Syndrome:

40
Hypothalamus, Prostate, Heart, Thyroid

Publications for Shaheen Syndrome

Articles related to Shaheen Syndrome:

(showing 35, show less)
# Title Authors PMID Year
1
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. 6 57
23606727 2013
2
Expanding the clinical phenotype of COG6 deficiency. 57
24667119 2014
3
Variable phenotypic expression of COG6 mutations. 57
24667118 2014
4
Mhealth hearing screening for children by non-specialist health workers in communities. 61
33043733 2020
5
Silencing of HLA class I on primary human hepatocytes as a novel strategy for reduction in alloreactivity. 61
31180181 2019
6
Smart Hybrid Nanocomposite for Photodynamic Inactivation of Cancer Cells with Selectivity. 61
31310131 2019
7
Key features and clinical variability of COG6-CDG. 61
26260076 2015
8
The tomato SlSHINE3 transcription factor regulates fruit cuticle formation and epidermal patterning. 61
23205954 2013
9
Cell-selective gene silencing in prostate cancer LNCap cells using prostate-specific membrane antigen promoter and enhancer in vitro and in vivo. 61
22612256 2012
10
[Silencing effect of cell-specific RNA interference plasmid pPSMAe/p-shNS-ploy(A) loaded by transgenic vector Tf-PEG-PEI targeting nucleostemin on prostate cancer cells in vitro]. 61
23291063 2012
11
Silica hollow nanospheres as new nanoscaffold materials to enhance hydrogen releasing from ammonia borane. 61
21947307 2011
12
High prevalence of TSHR/GsĪ± mutation-negative clonal hot thyroid nodules (HNs) in a Turkish cohort. 61
21773967 2011
13
SHINE transcription factors act redundantly to pattern the archetypal surface of Arabidopsis flower organs. 61
21637781 2011
14
A facile strategy for in situ core-template-functionalizing siliceous hollow nanospheres for guest species entrapment. 61
20596316 2009
15
Adenovirus-delivered short hairpin RNA targeting PKCalpha improves contractile function in reconstituted heart tissue. 61
17628588 2007
16
[Effect of DHEA on hindlimb muscles in a focal cerebral ischemia model rat]. 61
15314349 2004
17
Surgical decision making in upper aerodigestive tract cancer patient follow-up. 61
12370761 2002
18
How surgeon age affects posttreatment surveillance strategies for upper aerodigestive tract cancer patients. 61
10442773 1999
19
Practice patterns and clinical guidelines for posttreatment follow-up of head and neck cancers: a comparison of 2 professional societies. 61
10190803 1999
20
Excitatory effects of muscarine on septohippocampal neurons: involvement of M3 receptors. 61
9733970 1998
21
How tumor stage affects surgeons' surveillance strategies after surgery for carcinoma of the upper aerodigestive tract. 61
9587127 1998
22
Loss of rhythmically bursting neurons in rat medial septum following selective lesion of septohippocampal cholinergic system. 61
9535934 1998
23
Current follow-up strategies after potentially curative resection of upper aerodigestive tract epidermoid carcinoma. 61
21533465 1997
24
Involvement of a pertussis toxin-sensitive G-protein in the pharmacological properties of septo-hippocampal neurones. 61
2500997 1989
25
Septo-hippocampal neurons in the aged rat: relation between their electrophysiological and pharmacological properties and behavioral performances. 61
2657466 1989
26
Hemicholinium-3 selectively alters the rhythmically bursting activity of septo-hippocampal neurons in the rat. 61
2702465 1989
27
Rhythmical bursting activity and GABAergic mechanisms in the medial septum of normal and pertussis toxin-pretreated rats. 61
2792283 1989
28
Neuropeptides and septo-hippocampal neurons: electrophysiological effects and distributions of immunoreactivity. 61
2470066 1988
29
Septohippocampal neurons after intraventricular AF64A administration in rats: an electrophysiological study. 61
3956671 1986
30
Septo-hippocampal neurons in the rat: further study of their physiological and pharmacological properties. 61
3484996 1986
31
Comparison of septo-hippocampal with basalo-cortical projection neurons in the rat: an electrophysiological approach. 61
3951742 1986
32
Effects of TRH, cyclo-(His-Pro) and (3-Me-His2)TRH on identified septohippocampal neurons in the rat. 61
2859093 1985
33
Activation of identified septo-hippocampal neurons by noxious peripheral stimulation. 61
3971172 1985
34
Septo-hippocampal and other medial septum-diagonal band neurons: electrophysiological and pharmacological properties. 61
6148126 1984
35
[Functional relationships between the midbrain tegmentum and the supraoptico-hypophyseal neurosecretory system of the white rat hypothalamus]. 61
870841 1977

Variations for Shaheen Syndrome

ClinVar genetic disease variations for Shaheen Syndrome:

6 (showing 42, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COG6 NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) SNV Pathogenic 432111 rs1292534396 GRCh37: 13:40293915-40293915
GRCh38: 13:39719778-39719778
2 COG6 NM_020751.3(COG6):c.1167-24A>G SNV Pathogenic 183333 rs730882236 GRCh37: 13:40273614-40273614
GRCh38: 13:39699477-39699477
3 COG6 NM_020751.3(COG6):c.155A>G (p.Glu52Gly) SNV Uncertain significance 840902 GRCh37: 13:40233502-40233502
GRCh38: 13:39659365-39659365
4 COG6 NM_020751.3(COG6):c.1892dup (p.Met632fs) Duplication Uncertain significance 1062846 GRCh37: 13:40325147-40325148
GRCh38: 13:39751010-39751011
5 COG6 NM_020751.3(COG6):c.134C>T (p.Thr45Met) SNV Uncertain significance 640657 rs545371712 GRCh37: 13:40229997-40229997
GRCh38: 13:39655860-39655860
6 COG6 NM_020751.3(COG6):c.1760G>A (p.Arg587His) SNV Uncertain significance 540361 rs191156299 GRCh37: 13:40301619-40301619
GRCh38: 13:39727482-39727482
7 COG6 NM_020751.3(COG6):c.1961C>T (p.Thr654Met) SNV Uncertain significance 571928 rs747232819 GRCh37: 13:40325217-40325217
GRCh38: 13:39751080-39751080
8 COG6 NM_020751.3(COG6):c.1746+2T>G SNV Uncertain significance 493008 rs1555280464 GRCh37: 13:40298700-40298700
GRCh38: 13:39724563-39724563
9 COG6 NM_020751.3(COG6):c.730G>A (p.Val244Ile) SNV Uncertain significance 574735 rs147560202 GRCh37: 13:40256343-40256343
GRCh38: 13:39682206-39682206
10 COG6 NM_020751.3(COG6):c.868C>T (p.Pro290Ser) SNV Uncertain significance 858496 GRCh37: 13:40261719-40261719
GRCh38: 13:39687582-39687582
11 COG6 NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) SNV Uncertain significance 648281 rs1284095057 GRCh37: 13:40325166-40325166
GRCh38: 13:39751029-39751029
12 COG6 NM_020751.3(COG6):c.1415A>G (p.Gln472Arg) SNV Uncertain significance 836416 GRCh37: 13:40293503-40293503
GRCh38: 13:39719366-39719366
13 COG6 NM_020751.3(COG6):c.851C>T (p.Ala284Val) SNV Uncertain significance 857329 GRCh37: 13:40261702-40261702
GRCh38: 13:39687565-39687565
14 COG6 NM_020751.3(COG6):c.1738G>A (p.Ala580Thr) SNV Uncertain significance 998829 GRCh37: 13:40298690-40298690
GRCh38: 13:39724553-39724553
15 COG6 NM_020751.3(COG6):c.920A>G (p.Tyr307Cys) SNV Uncertain significance 1005873 GRCh37: 13:40261847-40261847
GRCh38: 13:39687710-39687710
16 COG6 NM_020751.3(COG6):c.556C>A (p.Leu186Met) SNV Uncertain significance 1005886 GRCh37: 13:40253690-40253690
GRCh38: 13:39679553-39679553
17 COG6 NM_020751.3(COG6):c.9G>C (p.Glu3Asp) SNV Uncertain significance 1011213 GRCh37: 13:40229872-40229872
GRCh38: 13:39655735-39655735
18 COG6 NM_020751.3(COG6):c.1247A>G (p.Asn416Ser) SNV Uncertain significance 838662 GRCh37: 13:40273718-40273718
GRCh38: 13:39699581-39699581
19 COG6 NM_020751.3(COG6):c.695G>A (p.Ser232Asn) SNV Uncertain significance 1016145 GRCh37: 13:40256308-40256308
GRCh38: 13:39682171-39682171
20 COG6 NM_020751.3(COG6):c.119A>G (p.His40Arg) SNV Uncertain significance 1035048 GRCh37: 13:40229982-40229982
GRCh38: 13:39655845-39655845
21 COG6 NM_020751.3(COG6):c.1036G>A (p.Val346Ile) SNV Uncertain significance 1039694 GRCh37: 13:40263923-40263923
GRCh38: 13:39689786-39689786
22 COG6 NM_020751.3(COG6):c.1233A>G (p.Lys411=) SNV Likely benign 387740 rs201806513 GRCh37: 13:40273704-40273704
GRCh38: 13:39699567-39699567
23 COG6 NM_020751.3(COG6):c.1693-6A>T SNV Likely benign 95992 rs78336861 GRCh37: 13:40298639-40298639
GRCh38: 13:39724502-39724502
24 COG6 NM_020751.3(COG6):c.1947G>A (p.Pro649=) SNV Likely benign 312150 rs147311831 GRCh37: 13:40325203-40325203
GRCh38: 13:39751066-39751066
25 COG6 NM_020751.3(COG6):c.320A>T (p.Asp107Val) SNV Likely benign 312133 rs146229425 GRCh37: 13:40234969-40234969
GRCh38: 13:39660832-39660832
26 COG6 NM_020751.3(COG6):c.358A>G (p.Ser120Gly) SNV Likely benign 697992 rs139313781 GRCh37: 13:40235007-40235007
GRCh38: 13:39660870-39660870
27 COG6 NM_020751.3(COG6):c.1693-7T>A SNV Likely benign 703006 rs34566895 GRCh37: 13:40298638-40298638
GRCh38: 13:39724501-39724501
28 COG6 NM_020751.3(COG6):c.65A>G (p.Asn22Ser) SNV Likely benign 473145 rs149055210 GRCh37: 13:40229928-40229928
GRCh38: 13:39655791-39655791
29 COG6 NM_020751.3(COG6):c.303T>C (p.Leu101=) SNV Likely benign 753502 rs764185523 GRCh37: 13:40234952-40234952
GRCh38: 13:39660815-39660815
30 COG6 NM_020751.3(COG6):c.1368C>T (p.His456=) SNV Likely benign 764233 rs550615578 GRCh37: 13:40293456-40293456
GRCh38: 13:39719319-39719319
31 COG6 NM_020751.3(COG6):c.1645G>T (p.Gly549Cys) SNV Likely benign 774547 rs141114931 GRCh37: 13:40297530-40297530
GRCh38: 13:39723393-39723393
32 COG6 NM_020751.3(COG6):c.1071A>G (p.Leu357=) SNV Likely benign 797905 rs746862943 GRCh37: 13:40263958-40263958
GRCh38: 13:39689821-39689821
33 COG6 NM_020751.3(COG6):c.1963C>A (p.Leu655Ile) SNV Benign 383518 rs114044193 GRCh37: 13:40325219-40325219
GRCh38: 13:39751082-39751082
34 COG6 NM_020751.3(COG6):c.1693-8_1693-6del Deletion Benign 540362 rs375280565 GRCh37: 13:40298637-40298639
GRCh38: 13:39724500-39724502
35 COG6 NM_020751.3(COG6):c.1827-4A>G SNV Benign 716690 rs375878630 GRCh37: 13:40325079-40325079
GRCh38: 13:39750942-39750942
36 COG6 NM_020751.3(COG6):c.1308T>G (p.Leu436=) SNV Benign 516792 rs61754105 GRCh37: 13:40293396-40293396
GRCh38: 13:39719259-39719259
37 COG6 NM_020751.3(COG6):c.729C>T (p.Asp243=) SNV Benign 312137 rs117688574 GRCh37: 13:40256342-40256342
GRCh38: 13:39682205-39682205
38 COG6 NM_020751.3(COG6):c.855C>T (p.Leu285=) SNV Benign 387057 rs544831978 GRCh37: 13:40261706-40261706
GRCh38: 13:39687569-39687569
39 COG6 NM_020751.3(COG6):c.69G>A (p.Gly23=) SNV Benign 312130 rs372786424 GRCh37: 13:40229932-40229932
GRCh38: 13:39655795-39655795
40 COG6 NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) SNV Benign 235506 rs34623774 GRCh37: 13:40273651-40273651
GRCh38: 13:39699514-39699514
41 COG6 NM_020751.3(COG6):c.898C>T (p.His300Tyr) SNV Benign 166919 rs34555836 GRCh37: 13:40261749-40261749
GRCh38: 13:39687612-39687612
42 COG6 NM_020751.3(COG6):c.1693-7_1693-6del Deletion Benign 312147 rs1491507046 GRCh37: 13:40298638-40298639
GRCh38: 13:39724501-39724502

Expression for Shaheen Syndrome

Search GEO for disease gene expression data for Shaheen Syndrome.

Pathways for Shaheen Syndrome

GO Terms for Shaheen Syndrome

Sources for Shaheen 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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