HELIX
MCID: HLX001
MIFTS: 29

Helix Syndrome (HELIX)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Helix Syndrome

MalaCards integrated aliases for Helix Syndrome:

Name: Helix Syndrome 57 75 6
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 57 75
Helix 57 75
Abnormality of the Helix 29

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



Summaries for Helix Syndrome

UniProtKB/Swiss-Prot : 75 HELIX syndrome: An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis.

MalaCards based summary : Helix Syndrome, also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia, is related to ear without helix and vascular helix of umbilical cord. An important gene associated with Helix Syndrome is CLDN10 (Claudin 10). Affiliated tissues include skin, lung and kidney, and related phenotypes are renal insufficiency and hypokalemia

Description from OMIM: 617671

Related Diseases for Helix Syndrome

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

(show top 50) (show all 212)
# Related Disease Score Top Affiliating Genes
1 ear without helix 12.0
2 vascular helix of umbilical cord 12.0
3 morel's ear 11.6
4 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.4
5 question mark ears, isolated 11.3
6 auriculocondylar syndrome 3 11.2
7 neurofibromatosis-noonan syndrome 11.0
8 preauricular tag, isolated, autosomal dominant, 1 11.0
9 spermatogenic failure 10 11.0
10 acrofrontofacionasal dysostosis 11.0
11 kozlowski-krajewska syndrome 11.0
12 lung cancer 10.7
13 breast cancer 10.5
14 hepatosplenic t-cell lymphoma 10.3
15 brittle bone disorder 10.3
16 leukemia 10.3
17 polycystic kidney disease 10.3
18 t-cell leukemia 10.2
19 acute myocardial infarction 10.2
20 hypoxia 10.2
21 microphthalmia 10.1
22 epidermolysis bullosa 10.1
23 epidermolysis bullosa simplex 10.1
24 pancreatic cancer 10.1
25 human immunodeficiency virus type 1 10.1
26 hepatitis 10.1
27 sarcoma 10.1
28 diphtheria 10.1
29 monilethrix 10.0
30 neuroblastoma 10.0
31 hepatitis c virus 10.0
32 hepatitis c 10.0
33 squamous cell carcinoma, head and neck 10.0
34 alcoholic hepatitis 10.0
35 pancreatic ductal adenocarcinoma 10.0
36 saethre-chotzen syndrome 10.0
37 noonan syndrome 3 10.0
38 lymphocytic leukemia 10.0
39 dermatitis 10.0
40 contact dermatitis 10.0
41 epidermolytic hyperkeratosis 9.9
42 prostate cancer 9.9
43 retinoblastoma 9.9
44 williams-beuren syndrome 9.9
45 ewing sarcoma 9.9
46 gastric cancer 9.9
47 melanoma 9.9
48 colorectal cancer 9.9
49 hepatocellular carcinoma 9.9
50 kniest dysplasia 9.9

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



Diseases related to Helix Syndrome

Symptoms & Phenotypes for Helix Syndrome

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
polydipsia

Head And Neck Mouth:
xerostomia

Laboratory Abnormalities:
hypocalciuria
hypermagnesemia
hypokalemia (in adults)
low urinary magnesium
reduced 25-hydroxy vitamin d levels

Head And Neck Teeth:
enamel wear, severe

Skin Nails Hair Skin Histology:
slightly thickened stratum corneum
follicular ostial dilation
basket-weave keratin
increased number of dilated eccrine sweat glands
acantholytic appearance of epithelial cells of eccrine sweat glands

Skin Nails Hair Skin:
dry skin
heat intolerance
generalized hypohidrosis or anhidrosis
fine scaling (predominantly on arms and knees)

Head And Neck Eyes:
alacrima

Genitourinary Kidneys:
polyuria
nephrolithiasis (in some patients)
renal failure, mild
renal nacl wasting
extensive nonspecific fibrosis seen on renal biopsy (in 1 patient)
more
Cardiovascular Vascular:
low to low-normal blood pressure

Endocrine Features:
normal to high plasma aldosterone
elevated plasma renin levels
elevated parathyroid hormone levels


Clinical features from OMIM:

617671

Human phenotypes related to Helix Syndrome:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 hypokalemia 32 HP:0002900
3 dry skin 32 HP:0000958
4 hypohidrosis 32 HP:0000966
5 nephrolithiasis 32 very rare (1%) HP:0000787
6 hypocalciuria 32 HP:0003127
7 heat intolerance 32 HP:0002046
8 hypermagnesemia 32 HP:0002918
9 polyuria 32 HP:0000103

Drugs & Therapeutics for Helix Syndrome

Search Clinical Trials , NIH Clinical Center for Helix Syndrome

Genetic Tests for Helix Syndrome

Genetic tests related to Helix Syndrome:

# Genetic test Affiliating Genes
1 Abnormality of the Helix 29

Anatomical Context for Helix Syndrome

MalaCards organs/tissues related to Helix Syndrome:

41
Skin, Lung, Kidney, Bone, Pituitary, T Cells, Myeloid

Publications for Helix Syndrome

Articles related to Helix Syndrome:

# Title Authors Year
1
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. ( 28771254 )
2017

Variations for Helix Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Helix Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 CLDN10 p.Asn48Lys VAR_080053 rs759408749
2 CLDN10 p.Ser131Leu VAR_080054

ClinVar genetic disease variations for Helix Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLDN10 NM_006984.4(CLDN10): c.144C> G (p.Asn48Lys) single nucleotide variant Pathogenic rs759408749 GRCh38 Chromosome 13, 95552897: 95552897
2 CLDN10 NM_006984.4(CLDN10): c.144C> G (p.Asn48Lys) single nucleotide variant Pathogenic rs759408749 GRCh37 Chromosome 13, 96205151: 96205151
3 CLDN10 NM_182848.3(CLDN10): c.386C> T (p.Ser129Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 95560391: 95560391
4 CLDN10 NM_182848.3(CLDN10): c.386C> T (p.Ser129Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 96212645: 96212645
5 CLDN10 NM_006984.4(CLDN10): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs930701747 GRCh38 Chromosome 13, 95552755: 95552755
6 CLDN10 NM_006984.4(CLDN10): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs930701747 GRCh37 Chromosome 13, 96205009: 96205009

Expression for Helix Syndrome

Search GEO for disease gene expression data for Helix Syndrome.

Pathways for Helix Syndrome

GO Terms for Helix Syndrome

Sources for Helix 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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