MCID: SHH004
MIFTS: 21

Shaheen Syndrome

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

Aliases & Classifications for Shaheen Syndrome

MalaCards integrated aliases for Shaheen Syndrome:

Name: Shaheen Syndrome 57 59 75 29 6 40 73
Shns 57 75
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
shaheen syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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)

MalaCards based summary : Shaheen Syndrome, also known as shns, is related to hypotrichosis and hyperprolactinemia. An important gene associated with Shaheen Syndrome is COG6 (Component Of Oligomeric Golgi Complex 6). Affiliated tissues include skin, and related phenotypes are microcephaly and carious teeth

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 10.1
2 hyperprolactinemia 9.9
3 glucose intolerance 9.9

Symptoms & Phenotypes for Shaheen Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly, borderline, acquired (in some patients)

Skin Nails Hair Skin:
hypohidrosis
normal numbers of sweat glands
hyperkeratosis of the palms and soles

Head And Neck Teeth:
enamel hypoplasia
dental caries

Neurologic Central Nervous System:
mental retardation
poor speech development


Clinical features from OMIM:

615328

Human phenotypes related to Shaheen Syndrome:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 carious teeth 32 HP:0000670
3 delayed speech and language development 32 HP:0000750
4 hypohidrosis 32 HP:0000966
5 palmoplantar hyperkeratosis 32 HP:0000972
6 intellectual disability 32 HP:0001249
7 hypoplasia of dental enamel 32 HP:0006297

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:

41
Skin

Publications for Shaheen Syndrome

Variations for Shaheen Syndrome

ClinVar genetic disease variations for Shaheen Syndrome:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG6 NM_020751.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 GRCh37 Chromosome 13, 40261749: 40261749
2 COG6 NM_020751.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 GRCh38 Chromosome 13, 39687612: 39687612
3 COG6 NM_020751.2(COG6): c.1167-24A> G single nucleotide variant Likely pathogenic rs730882236 GRCh38 Chromosome 13, 39699477: 39699477
4 COG6 NM_020751.2(COG6): c.1167-24A> G single nucleotide variant Likely pathogenic rs730882236 GRCh37 Chromosome 13, 40273614: 40273614
5 COG6 NM_020751.2(COG6): c.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 GRCh38 Chromosome 13, 39660832: 39660832
6 COG6 NM_020751.2(COG6): c.320A> T (p.Asp107Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146229425 GRCh37 Chromosome 13, 40234969: 40234969
7 COG6 NM_020751.2(COG6): c.1693-7_1693-6delTA deletion Benign/Likely benign rs201839861 GRCh38 Chromosome 13, 39724501: 39724502
8 COG6 NM_020751.2(COG6): c.1693-7_1693-6delTA deletion Benign/Likely benign rs201839861 GRCh37 Chromosome 13, 40298638: 40298639
9 COG6 NM_020751.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 GRCh37 Chromosome 13, 40229928: 40229928
10 COG6 NM_020751.2(COG6): c.65A> G (p.Asn22Ser) single nucleotide variant Likely benign rs149055210 GRCh38 Chromosome 13, 39655791: 39655791
11 COG6 NM_020751.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 GRCh38 Chromosome 13, 39727482: 39727482
12 COG6 NM_020751.2(COG6): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance rs191156299 GRCh37 Chromosome 13, 40301619: 40301619
13 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign GRCh37 Chromosome 13, 40298637: 40298639
14 COG6 NM_020751.2(COG6): c.1693-8_1693-6delTTA deletion Benign GRCh38 Chromosome 13, 39724500: 39724502
15 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh38 Chromosome 13, 39655849: 39655849
16 COG6 NM_020751.2(COG6): c.123G> A (p.Lys41=) single nucleotide variant Likely benign rs757337069 GRCh37 Chromosome 13, 40229986: 40229986

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 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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