ANHD
MCID: ANH004
MIFTS: 40

Anhidrosis, Isolated, with Normal Sweat Glands (ANHD)

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

Aliases & Classifications for Anhidrosis, Isolated, with Normal Sweat Glands

MalaCards integrated aliases for Anhidrosis, Isolated, with Normal Sweat Glands:

Name: Anhidrosis, Isolated, with Normal Sweat Glands 56 73 6 39
Isolated Anhidrosis with Normal Sweat Glands 12 36 15
Dann-Epstein-Sohar Syndrome 56 12 73
Anhd 56 73
Anhidrosis, Familial Generalized, with Normal Sweat Glands 73
Isolated Generalized Anhidrosis with Normal Sweat Glands 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
severe heat intolerance
five affected individuals in one consanguineous pakistani with itpr2 mutation has been described (last curated april 2015)


HPO:

31
anhidrosis, isolated, with normal sweat glands:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060603
OMIM 56 106190
KEGG 36 H02281
MeSH 43 D007007
Orphanet 58 ORPHA468666
MedGen 41 C1862871

Summaries for Anhidrosis, Isolated, with Normal Sweat Glands

KEGG : 36 Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) is very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the endoplasmic reticulum.

MalaCards based summary : Anhidrosis, Isolated, with Normal Sweat Glands, also known as isolated anhidrosis with normal sweat glands, is related to wolfram syndrome 2 and gillespie syndrome. An important gene associated with Anhidrosis, Isolated, with Normal Sweat Glands is ITPR2 (Inositol 1,4,5-Trisphosphate Receptor Type 2), and among its related pathways/superpathways are Calcium signaling pathway and CREB Pathway. Affiliated tissues include skin, and related phenotypes are anhidrosis and heat intolerance

Disease Ontology : 12 An anhidrosis that has material basis in homozygous mutation in the ITPR2 gene on chromosome 12p11.

OMIM : 56 Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014). (106190)

UniProtKB/Swiss-Prot : 73 Anhidrosis, isolated, with normal sweat glands: An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal.

Related Diseases for Anhidrosis, Isolated, with Normal Sweat Glands

Diseases related to Anhidrosis, Isolated, with Normal Sweat Glands via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 2 10.2 ITPR3 ITPR1
2 gillespie syndrome 10.0 ITPR3 ITPR2 ITPR1
3 ventricular fibrillation, paroxysmal familial, 1 9.9 RYR2 CACNA1C
4 sinoatrial node disease 9.8 RYR2 CACNA1C
5 long qt syndrome 3 9.8 RYR2 CACNA1C
6 leber congenital amaurosis 2 9.8 RYR2 CACNA1C
7 cardiac arrhythmia 9.8 RYR2 CACNA1C
8 crouzon syndrome with acanthosis nigricans 9.8 ITPR3 ITPR1 CACNA1C
9 cardiac arrhythmia, ankyrin-b-related 9.8 RYR2 CACNA1C
10 andersen cardiodysrhythmic periodic paralysis 9.8 RYR2 CACNA1C
11 malignant renovascular hypertension 9.7 EDNRA EDN1
12 transient refractive change 9.7 EDNRA EDN1
13 mandibulofacial dysostosis with alopecia 9.7 EDNRA EDN1
14 nephrogenic systemic fibrosis 9.7 EDNRA EDN1
15 timothy syndrome 9.7 RYR2 CACNA1C
16 chronic pulmonary heart disease 9.7 EDNRA EDN1
17 catecholaminergic polymorphic ventricular tachycardia 9.6 RYR2 CACNA1C ATP2A2
18 persistent fetal circulation syndrome 9.6 EDNRA EDN1
19 neuromuscular junction disease 9.5 RYR2 CACNA1C
20 hepatopulmonary syndrome 9.5 EDNRA EDN1
21 arrhythmogenic right ventricular cardiomyopathy 9.4 RYR2 CACNA1C ATP2A2
22 malignant hyperthermia 9.4 RYR2 ITPR3 ITPR1 CACNA1C
23 cerebral arterial disease 9.2 EDNRA EDN1
24 hypertrophic cardiomyopathy 9.1 RYR2 EDN1 CACNA1C ATP2A2
25 migraine with or without aura 1 9.0 EDNRA EDN1 CACNA1C
26 congestive heart failure 8.9 RYR2 EDNRA EDN1 CACNA1C
27 dilated cardiomyopathy 8.6 RYR2 EDNRA EDN1 CACNA1C ATP2A2
28 heart disease 8.2 RYR2 MIR23A EDNRA EDN1 CACNA1C ATP2A2

Graphical network of the top 20 diseases related to Anhidrosis, Isolated, with Normal Sweat Glands:



Diseases related to Anhidrosis, Isolated, with Normal Sweat Glands

Symptoms & Phenotypes for Anhidrosis, Isolated, with Normal Sweat Glands

Human phenotypes related to Anhidrosis, Isolated, with Normal Sweat Glands:

31
# Description HPO Frequency HPO Source Accession
1 anhidrosis 31 HP:0000970
2 heat intolerance 31 HP:0002046
3 generalized anhidrosis 31 HP:0007459

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
anhidrosis

Head And Neck Mouth:
normal saliva production

Skin Nails Hair Skin Histology:
normal morphology of sweat glands
normal number of sweat glands

Skin Nails Hair Hair:
no hair abnormality

Growth Other:
normal growth

Head And Neck Teeth:
no teeth abnormalities

Skin Nails Hair Nails:
no nail abnormality

Laboratory Abnormalities:
normal electrolyte levels
normal s-amylase levels

Clinical features from OMIM:

106190

MGI Mouse Phenotypes related to Anhidrosis, Isolated, with Normal Sweat Glands:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ATP2A2 CACNA1C EDN1 EDNRA HDAC5 ITPR2
2 growth/size/body region MP:0005378 9.97 ATP2A2 EDN1 EDNRA HDAC5 ITPR1 ITPR2
3 endocrine/exocrine gland MP:0005379 9.95 CACNA1C EDN1 EDNRA ITPR1 ITPR2 ITPR3
4 homeostasis/metabolism MP:0005376 9.92 ATP2A2 CACNA1C EDN1 EDNRA ITPR1 ITPR2
5 embryo MP:0005380 9.91 ATP2A2 CACNA1C EDN1 EDNRA ITPR1 RYR2
6 mortality/aging MP:0010768 9.91 ATP2A2 CACNA1C EDN1 EDNRA HDAC5 ITPR1
7 digestive/alimentary MP:0005381 9.85 ATP2A2 EDN1 EDNRA ITPR2 ITPR3
8 muscle MP:0005369 9.76 ATP2A2 CACNA1C EDN1 EDNRA HDAC5 ITPR1
9 nervous system MP:0003631 9.5 ATP2A2 CACNA1C EDN1 EDNRA ITPR1 ITPR3
10 renal/urinary system MP:0005367 9.02 ATP2A2 EDN1 EDNRA HDAC5 RYR2

Drugs & Therapeutics for Anhidrosis, Isolated, with Normal Sweat Glands

Search Clinical Trials , NIH Clinical Center for Anhidrosis, Isolated, with Normal Sweat Glands

Genetic Tests for Anhidrosis, Isolated, with Normal Sweat Glands

Anatomical Context for Anhidrosis, Isolated, with Normal Sweat Glands

MalaCards organs/tissues related to Anhidrosis, Isolated, with Normal Sweat Glands:

40
Skin

Publications for Anhidrosis, Isolated, with Normal Sweat Glands

Articles related to Anhidrosis, Isolated, with Normal Sweat Glands:

# Title Authors PMID Year
1
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. 6 56
25329695 2014
2
Familial generalized anhidrosis. 56
2401610 1990
3
Familial generalized anhidrosis. 56
2401613 1990
4
Formation of anaerobic granules and microbial community structure analysis in anaerobic hydrolysis denitrification reactor. 61
32526572 2020
5
Biodegradation of the Neonicotinoid Insecticide Acetamiprid by Actinomycetes Streptomyces canus CGMCC 13662 and Characterization of the Novel Nitrile Hydratase Involved. 61
31067049 2019
6
Investigation of the effects of hydrogenotrophic denitrification and anammox on the improvement of the quality of the drinking water supply system. 61
23802162 2013
7
Preoperative treatment with recombinant human erythropoietin or predeposit of autologous blood in women undergoing primary hip replacement. 61
10903019 2000
8
[Intraoperative application of acute normovolemic hemodilution]. 61
12212261 2000

Variations for Anhidrosis, Isolated, with Normal Sweat Glands

ClinVar genetic disease variations for Anhidrosis, Isolated, with Normal Sweat Glands:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITPR2 NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser)SNV Pathogenic 189316 rs786204832 12:26553099-26553099 12:26400166-26400166

UniProtKB/Swiss-Prot genetic disease variations for Anhidrosis, Isolated, with Normal Sweat Glands:

73
# Symbol AA change Variation ID SNP ID
1 ITPR2 p.Gly2498Ser VAR_073688 rs786204832

Expression for Anhidrosis, Isolated, with Normal Sweat Glands

Search GEO for disease gene expression data for Anhidrosis, Isolated, with Normal Sweat Glands.

Pathways for Anhidrosis, Isolated, with Normal Sweat Glands

Pathways related to Anhidrosis, Isolated, with Normal Sweat Glands according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

Pathways related to Anhidrosis, Isolated, with Normal Sweat Glands according to GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 RYR2 ITPR3 ITPR2 ITPR1 HDAC5 CACNA1C
2
Show member pathways
13.07 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
3
Show member pathways
12.98 ITPR3 ITPR2 ITPR1 HDAC5 CACNA1C
4
Show member pathways
12.95 ITPR3 ITPR2 ITPR1 HDAC5
5
Show member pathways
12.95 ITPR3 ITPR2 ITPR1 CACNA1C
6
Show member pathways
12.95 RYR2 ITPR3 ITPR2 ITPR1 HDAC5 CACNA1C
7
Show member pathways
12.93 ITPR3 ITPR2 ITPR1 CACNA1C
8
Show member pathways
12.89 ITPR3 ITPR2 ITPR1 HDAC5
9
Show member pathways
12.82 ITPR3 ITPR2 ITPR1 CACNA1C
10
Show member pathways
12.81 RYR2 ITPR3 ITPR2 ITPR1 EDN1 CACNA1C
11
Show member pathways
12.78 ITPR3 ITPR2 ITPR1 HDAC5 EDN1
12
Show member pathways
12.75 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
13
Show member pathways
12.71 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C
14
Show member pathways
12.65 ITPR3 ITPR2 ITPR1 HDAC5 EDNRA EDN1
15
Show member pathways
12.62 ITPR3 ITPR2 ITPR1 EDN1 CACNA1C
16
Show member pathways
12.5 ITPR3 ITPR2 ITPR1 CACNA1C
17
Show member pathways
12.5 ITPR3 ITPR2 ITPR1 EDNRA EDN1 CACNA1C
18
Show member pathways
12.37 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
19
Show member pathways
12.35 ITPR3 ITPR2 ITPR1
20
Show member pathways
12.35 ITPR3 ITPR2 ITPR1 ATP2A2
21
Show member pathways
12.34 ITPR3 ITPR2 ITPR1
22
Show member pathways
12.32 ITPR3 ITPR2 ITPR1
23
Show member pathways
12.32 ITPR3 ITPR2 ITPR1 CACNA1C
24
Show member pathways
12.31 ITPR3 ITPR2 ITPR1
25 12.31 ITPR3 ITPR2 ITPR1
26
Show member pathways
12.3 RYR2 ITPR3 ITPR2 ITPR1 EDNRA CACNA1C
27
Show member pathways
12.29 ITPR3 ITPR2 ITPR1
28 12.29 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
29
Show member pathways
12.28 ITPR3 ITPR2 ITPR1
30
Show member pathways
12.26 ITPR3 ITPR2 ITPR1
31 12.26 RYR2 EDNRA EDN1 CACNA1C ATP2A2
32
Show member pathways
12.25 ITPR3 ITPR2 ITPR1
33
Show member pathways
12.23 ITPR3 ITPR2 ITPR1
34 12.23 ITPR3 ITPR2 ITPR1
35
Show member pathways
12.23 ITPR3 ITPR2 ITPR1 ATP2A2
36
Show member pathways
12.22 ITPR3 ITPR2 ITPR1
37
Show member pathways
12.22 RYR2 EDN1 CACNA1C ATP2A2
38 12.17 ITPR3 ITPR2 ITPR1
39
Show member pathways
12.16 RYR2 ITPR3 ITPR2 ITPR1 EDNRA EDN1
40
Show member pathways
12.14 ITPR3 ITPR2 ITPR1
41
Show member pathways
12.13 ITPR3 ITPR2 ITPR1
42
Show member pathways
12.12 ITPR3 ITPR2 ITPR1
43
Show member pathways
12.1 MIR23A HDAC5 EDN1
44 12.09 ITPR3 ITPR2 ITPR1
45
Show member pathways
12.08 RYR2 CACNA1C ATP2A2
46
Show member pathways
12.07 ITPR3 ITPR2 ITPR1
47 12.05 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
48 12.04 ITPR3 ITPR2 ITPR1 ATP2A2
49
Show member pathways
12.02 ITPR3 ITPR2 ITPR1 CACNA1C
50
Show member pathways
12.01 ITPR3 ITPR2 ITPR1 HDAC5

GO Terms for Anhidrosis, Isolated, with Normal Sweat Glands

Cellular components related to Anhidrosis, Isolated, with Normal Sweat Glands according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.76 RYR2 ITPR3 ITPR2 ITPR1 EDNRA EDN1
2 protein-containing complex GO:0032991 9.71 RYR2 ITPR1 HDAC5 ATP2A2
3 cytoplasmic vesicle membrane GO:0030659 9.62 RYR2 ITPR3 ITPR2 ITPR1
4 secretory granule membrane GO:0030667 9.54 ITPR3 ITPR2 ITPR1
5 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR2 ITPR2 ATP2A2
6 sarcoplasmic reticulum GO:0016529 9.35 RYR2 ITPR3 ITPR2 ITPR1 ATP2A2
7 platelet dense tubular network membrane GO:0031095 8.92 ITPR3 ITPR2 ITPR1 ATP2A2

Biological processes related to Anhidrosis, Isolated, with Normal Sweat Glands according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
2 transmembrane transport GO:0055085 9.92 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C
3 heart development GO:0007507 9.82 EDNRA EDN1 CACNA1C
4 positive regulation of cytosolic calcium ion concentration GO:0007204 9.8 ITPR3 EDNRA EDN1 CACNA1C
5 platelet activation GO:0030168 9.77 ITPR3 ITPR2 ITPR1
6 response to hypoxia GO:0001666 9.72 RYR2 ITPR2 ITPR1 EDNRA EDN1
7 regulation of insulin secretion GO:0050796 9.71 ITPR3 ITPR2 ITPR1 CACNA1C
8 release of sequestered calcium ion into cytosol GO:0051209 9.67 RYR2 ITPR3 ITPR2 ITPR1
9 response to activity GO:0014823 9.65 HDAC5 EDN1
10 positive regulation of heart rate GO:0010460 9.65 RYR2 EDN1 ATP2A2
11 regulation of cardiac conduction GO:1903779 9.65 RYR2 ITPR3 ITPR2 ITPR1 ATP2A2
12 respiratory gaseous exchange GO:0007585 9.64 EDNRA EDN1
13 branching involved in blood vessel morphogenesis GO:0001569 9.63 EDNRA EDN1
14 neural crest cell development GO:0014032 9.63 EDNRA EDN1
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.62 RYR2 CACNA1C
16 vasoconstriction GO:0042310 9.62 EDNRA EDN1
17 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.61 ITPR1 ATP2A2
18 response to muscle stretch GO:0035994 9.61 RYR2 EDN1
19 calcium ion transport into cytosol GO:0060402 9.61 RYR2 ITPR3 CACNA1C
20 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.6 RYR2 CACNA1C
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.58 RYR2 CACNA1C
22 artery smooth muscle contraction GO:0014824 9.58 EDNRA EDN1
23 regulation of glucose transmembrane transport GO:0010827 9.57 EDNRA EDN1
24 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.56 RYR2 ATP2A2
25 endothelin receptor signaling pathway GO:0086100 9.55 EDNRA EDN1
26 epithelial fluid transport GO:0042045 9.54 ITPR1 EDN1
27 sarcoplasmic reticulum calcium ion transport GO:0070296 9.51 RYR2 ATP2A2
28 inositol phosphate-mediated signaling GO:0048016 9.46 ITPR3 ITPR2 ITPR1 EDN1
29 calcium ion transport GO:0006816 9.43 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2
30 calcium ion transmembrane transport GO:0070588 9.1 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C ATP2A2

Molecular functions related to Anhidrosis, Isolated, with Normal Sweat Glands according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.77 RYR2 ITPR3 ITPR2 ITPR1 ATP2A2
2 ion channel activity GO:0005216 9.65 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C
3 ion channel binding GO:0044325 9.63 RYR2 ITPR2 ATP2A2
4 phosphatidylinositol binding GO:0035091 9.61 ITPR3 ITPR2 ITPR1
5 inositol 1,4,5 trisphosphate binding GO:0070679 9.5 ITPR3 ITPR2 ITPR1
6 calcium ion transmembrane transporter activity GO:0015085 9.4 ITPR2 ITPR1
7 calcium channel activity GO:0005262 9.35 RYR2 ITPR3 ITPR2 ITPR1 CACNA1C
8 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0005220 9.33 ITPR3 ITPR2 ITPR1
9 calcium-release channel activity GO:0015278 8.92 RYR2 ITPR3 ITPR2 ITPR1

Sources for Anhidrosis, Isolated, with Normal Sweat Glands

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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