MCID: CLD014
MIFTS: 41

Cole Disease

Categories: Genetic diseases, Rare diseases, Skin diseases, Gastrointestinal diseases

Aliases & Classifications for Cole Disease

MalaCards integrated aliases for Cole Disease:

Name: Cole Disease 54 50 24 25 56 71 29 69
Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma with or Without Ectopic Calcification 24 25
Coled 24 71
Punctate Palmoplantar Keratoderma with or Without Ectopic Calcification 50
Guttate Hypopigmentation and Punctate Palmoplantar Keratoderma 56
Hypopigmentation and Punctate Keratosis of the Palms and Soles 56
Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome 56
Albinoidism, Oculocutaneous, Autosomal Dominant 69
Hypopigmentation Disorder 69
Guttate Hypopigmentation 50
Hypopigmentation 42

Characteristics:

Orphanet epidemiological data:

56
hypopigmentation-punctate palmoplantar keratoderma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
skin lesions manifest in the first year of life
hair, teeth, and nails are normal


HPO:

32
cole disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 615522
Orphanet 56 ORPHA324561
ICD10 via Orphanet 34 Q82.8

Summaries for Cole Disease

OMIM : 54
Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013). (615522)

MalaCards based summary : Cole Disease, also known as guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification, is related to yemenite deaf-blind hypopigmentation syndrome and oculocerebral syndrome with hypopigmentation, and has symptoms including hyperkeratosis and achromia of skin. An important gene associated with Cole Disease is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1). The drugs Ranibizumab and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung.

Genetics Home Reference : 25 Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present at birth or develop in the first year of life.

UniProtKB/Swiss-Prot : 71 Cole disease: A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy.

Related Diseases for Cole Disease

Diseases related to Cole Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 12.2
2 oculocerebral syndrome with hypopigmentation 12.2
3 cole-carpenter syndrome 1 12.2
4 cole-carpenter syndrome 2 12.1
5 hyperpigmentation with or without hypopigmentation 12.1
6 osteoporosis and oculocutaneous hypopigmentation syndrome 12.1
7 cole-carpenter syndrome 12.0
8 oculocerebral hypopigmentation syndrome of preus 11.9
9 dyskeratosis congenita 11.8
10 hypopigmentation of eyelid 11.7
11 vici syndrome 11.7
12 griscelli syndrome 11.6
13 tietz albinism-deafness syndrome 11.6
14 griscelli syndrome, type 2 11.4
15 waardenburg syndrome, type 2e, with or without neurologic involvement 11.4
16 griscelli syndrome, type 1 11.4
17 chediak-higashi syndrome 11.0
18 dyskeratosis congenita, x-linked 10.9
19 reticulate acropigmentation of kitamura 10.8
20 ocular albinism, type i, nettleship-falls type 10.8
21 aland island eye disease 10.8
22 cryohydrocytosis 10.8
23 macrocephaly, benign familial 10.8
24 hypomelanotic disorder 10.7
25 epidermolysis bullosa simplex-mp 10.6
26 revesz syndrome 10.6
27 macular dystrophy, concentric annular 10.6
28 mismatch repair cancer syndrome 10.6
29 griscelli syndrome, type 3 10.6
30 elejalde disease 10.6
31 gillespie syndrome 10.6
32 ocular albinism, x-linked 10.6
33 hyperpigmentation, familial progressive, 1 10.6
34 epidermolysis bullosa simplex, generalized, with scarring and hair loss 10.6
35 rothmund-thomson syndrome 10.6
36 menkes disease 10.6
37 albinism, oculocutaneous, type ib 10.6
38 albinism-deafness syndrome 10.6
39 carpenter syndrome 9.9
40 pneumonia 9.9
41 hermansky-pudlak syndrome 9.9
42 angelman syndrome 9.9
43 albinism 9.8
44 melanoma 9.8
45 punctate palmoplantar keratoderma 9.7
46 keratosis 9.7
47 basal cell carcinoma 9.7
48 papillary carcinoma 9.7
49 paraplegia 9.7
50 thyroiditis 9.7

Graphical network of the top 20 diseases related to Cole Disease:



Diseases related to Cole Disease

Symptoms & Phenotypes for Cole Disease

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin Histology:
acanthosis
hypergranulosis
hyperkeratosis
hyperorthokeratosis
reduction in melanin content in keratinocytes
more
Skin Nails & Hair- Nails:
normal nails

Chest- Breasts:
microcalcifications on mammography (in some patients)

Skeletal- Pelvis:
calcific tendinopathy of hips (in some patients)

Skeletal- Feet:
calcific tendinopathy of heels (in some patients)

Skin Nails & Hair- Skin Electron Microscopy:
increased melanosomes in cytoplasm and dendrites of melanocytes
paucity of melanosomes in keratinocytes

Head And Neck- Mouth:
normal teeth

Skin Nails & Hair- Hair:
normal hair

Abdomen- Spleen:
splenic calcification (in some patients)

Skeletal- Limbs:
calcific tendinopathy of shoulders (in some patients)
calcific tendinopathy of wrists (in some patients)

Skin Nails & Hair- Skin:
hypopigmented macules, primarily on extremities
punctate palmoplantar keratoderma

Muscle Soft Tissue:
calcific tendinopathy, early-onset (in some patients)


Clinical features from OMIM:

615522

Human phenotypes related to Cole Disease:

32
id Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962

UMLS symptoms related to Cole Disease:


achromia of skin

Drugs & Therapeutics for Cole Disease

Drugs for Cole Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 232)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 1,Phase 2 347396-82-1 459903
2
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 216974-75-3
3
Menthol Approved Phase 4 2216-51-5 16666
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 50-02-2 5743
5
Lactitol Investigational Phase 4 585-86-4 3871
6 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
7 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 1,Phase 2
8 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 Antiemetics Phase 4,Phase 1,Phase 2
12 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 1,Phase 2
14 Autonomic Agents Phase 4,Phase 1,Phase 2
15 BB 1101 Phase 4,Phase 1,Phase 2
16 Dexamethasone acetate Phase 4,Phase 1,Phase 2 1177-87-3
17 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
18 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
19 HIV Protease Inhibitors Phase 4,Phase 1,Phase 2
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
21
protease inhibitors Phase 4,Phase 1,Phase 2
22
Busulfan Approved, Investigational Phase 3 55-98-1 2478
23
Dactinomycin Approved Phase 3 50-76-0 2019 457193
24
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
25
Etoposide Approved Phase 3 33419-42-0 36462
26
Ifosfamide Approved Phase 3 3778-73-2 3690
27
Mechlorethamine Approved Phase 3 51-75-2 4033
28
Melphalan Approved Phase 3 148-82-3 4053 460612
29
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
30
Zinc Approved Phase 3 7440-66-6 32051 23994
31
Cetuximab Approved Phase 3,Phase 1,Phase 2 205923-56-4 56842117 2333
32
Fluorouracil Approved Phase 3 51-21-8 3385
33
Irinotecan Approved, Investigational Phase 3,Phase 1,Phase 2 97682-44-5, 100286-90-6 60838
34
Levoleucovorin Approved Phase 3 68538-85-2
35
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
36
Dexmedetomidine Approved, Vet_approved Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
37
Lenograstim Approved Phase 3,Phase 2 135968-09-1
38
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 6442177
39
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
40
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
41
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
42
Gemcitabine Approved Phase 2, Phase 3,Phase 1 95058-81-4 60750
43
Triamcinolone Approved, Vet_approved Phase 2, Phase 3,Early Phase 1 124-94-7 31307
44
Nintedanib Approved Phase 3 656247-17-5 56843413
45
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
46
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
47
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
48
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
49
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
50
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767

Interventional clinical trials:

(show top 50) (show all 119)

id Name Status NCT ID Phase Drugs
1 Double-Blind Placebo Study on Magnetic Field Therapy in Chronic Lumbar Pain Unknown status NCT00407615 Phase 4
2 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
3 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
4 Ozurdex for Diabetic Macular Edema Treated With Pars Plana vitrEctomy and Membrane RemovAl (OPERA Study) Completed NCT01613716 Phase 4 Ozurdex
5 Treatment of Diabetic Macular Edema With Aflibercept in Subjects Previously Treated With Ranibizumab or Bevacizumab Recruiting NCT02559180 Phase 4 aflibercept
6 Peripheral and Macular Retinal Vascular Perfusion and Leakage in DME and RVO Active, not recruiting NCT02503540 Phase 4 Aflibercept
7 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation, Radiation Therapy, and/or Surgery in Treating Patients With Ewing's Sarcoma Unknown status NCT00020566 Phase 3 busulfan;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;vincristine sulfate
8 Effect of Vitamin A in the Treatment of Neonatal Sepsis and Necrotizing Enterocolitis Completed NCT00707785 Phase 3
9 Micronutrient Sprinkles in a Daycare Center Completed NCT00967551 Phase 3
10 Comparison of Combination Chemotherapy Regimens With or Without Cetuximab in Treating Patients Who Have Undergone Surgery For Stage III Colon Cancer Completed NCT00079274 Phase 3 irinotecan hydrochloride;oxaliplatin;leucovorin calcium;fluorouracil;Locally Directed Therapy
11 Combination Chemotherapy in Treating Patients With Advanced Colorectal Cancer Completed NCT00003594 Phase 3 irinotecan;fluorouracil;leucovorin calcium;oxaliplatin
12 Six Month Clinical Research Study for Patients With Moderate or Severe Dry Eye Syndrome Completed NCT00025818 Phase 3 Ophthalmic Emulsion
13 Use of Dexmedetomidine to Reduce Emergence Delirium Incident in Children Completed NCT00857727 Phase 3 Dexmedetomidine;Saline
14 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
15 Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus Completed NCT01643226 Phase 3 riboflavin solution;placebo solution
16 A Trial to Compare Nintedanib With Placebo for Patients With Scleroderma Related Lung Fibrosis Recruiting NCT02597933 Phase 3 Nintedanib;Placebo
17 A Study To Confirm Efficacy and Safety of Terlipressin in HRS Type 1 Recruiting NCT02770716 Phase 3 Terlipressin acetate
18 Aspirin in Preventing Recurrence of Cancer in Patients With Node Positive HER2 Negative Stage II-III Breast Cancer After Chemotherapy, Surgery, and/or Radiation Therapy Recruiting NCT02927249 Phase 3 Aspirin
19 Platinum Based Chemotherapy or Capecitabine in Treating Patients With Residual Triple-Negative Basal-Like Breast Cancer Following Neoadjuvant Chemotherapy Recruiting NCT02445391 Phase 3 Capecitabine;Carboplatin;Cisplatin
20 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
21 Pembrolizumab in Treating Patients With Triple-Negative Breast Cancer Recruiting NCT02954874 Phase 3
22 Tamoxifen Citrate, Letrozole, Anastrozole, or Exemestane With or Without Chemotherapy in Treating Patients With Invasive RxPONDER Breast Cancer Recruiting NCT01272037 Phase 3 Anastrozole;Exemestane;Letrozole;Systemic Chemotherapy;Tamoxifen Citrate
23 Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Younger Patients With Newly Diagnosed Ependymoma Recruiting NCT01096368 Phase 3 liposomal vincristine sulfate;carboplatin;cyclophosphamide;etoposide;cisplatin
24 S1207 Hormone Therapy With or Without Everolimus in Treating Patients With Breast Cancer Recruiting NCT01674140 Phase 3 anastrozole;everolimus;exemestane;goserelin acetate;letrozole;leuprolide acetate;tamoxifen citrate
25 Doxorubicin Hydrochloride and Cyclophosphamide Followed by Paclitaxel With or Without Carboplatin in Treating Patients With Triple-Negative Breast Cancer Recruiting NCT02488967 Phase 3 Carboplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Paclitaxel
26 Study to Assess the Safety and Efficacy of Ribociclib (LEE011) in Combination With Letrozole for the Treatment of Men and Pre/Postmenopausal Women With HR+ HER2- aBC Recruiting NCT02941926 Phase 3 Ribociclib (LEE011);Letrozole;Goserelin
27 Response and Biology-Based Risk Factor-Guided Therapy in Treating Younger Patients With Non-high Risk Neuroblastoma Recruiting NCT02176967 Phase 3 Carboplatin;Etoposide;Cyclophosphamide;Doxorubicin Hydrochloride
28 Exemestane With or Without Entinostat in Treating Patients With Recurrent Hormone Receptor-Positive Breast Cancer That is Locally Advanced or Metastatic Recruiting NCT02115282 Phase 3 Entinostat;Exemestane;Goserelin Acetate
29 Phase 2/3, Randomized, Double-Masked, Sham-Controlled Trial of QPI-1007 in Subjects With Acute Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT02341560 Phase 2, Phase 3 QPI-1007 Injection - single low dose;QPI-1007 Injection - single high dose;QPI-1007 Injection - multiple low dose;QPI-1007 Injection - multiple high dose
30 Long-Term Safety of Lampalizumab Intravitreal (ITV) Injections in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (OMASPECT) Recruiting NCT02745119 Phase 3 Lampalizumab
31 Crizotinib in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Removed by Surgery and ALK Fusion Mutations (An ALCHEMIST Treatment Trial) Recruiting NCT02201992 Phase 3 Crizotinib
32 A Phase 3 Study of Ibrutinib (PCI-32765) Versus Ofatumumab in Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia Active, not recruiting NCT01578707 Phase 3 ofatumumab;ibrutinib
33 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
34 Hormone Therapy With or Without Combination Chemotherapy in Treating Women Who Have Undergone Surgery for Node-Negative Breast Cancer (The TAILORx Trial) Active, not recruiting NCT00310180 Phase 3 Anastrozole;Exemestane;Letrozole;Tamoxifen Citrate
35 Study of Ibrutinib vs Placebo, in Combination With Nab-paclitaxel and Gemcitabine, in the First Line Treatment of Patients With Metastatic Pancreatic Adenocarcinoma (RESOLVE) Active, not recruiting NCT02436668 Phase 2, Phase 3 Ibrutinib;Gemcitabine;Nab-paclitaxel
36 A Study Investigating the Efficacy and Safety of Lampalizumab Intravitreal Injections in Participants With Geographic Atrophy Secondary to Age-Related Macular Degeneration Active, not recruiting NCT02247479 Phase 3 Lampalizumab
37 Steroids for Early Treatment of Radiation Retinopathy Not yet recruiting NCT03238157 Phase 2, Phase 3 Fluocinolone Acetonide (FA) implant
38 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
39 Postoperative Chemotherapy With or Without Bevacizumab for Patients With Stage II or III Rectal Cancer Terminated NCT00303628 Phase 3 oxaliplatin;fluorouracil;leucovorin calcium;bevacizumab
40 Keratinocyte Growth Factor to Prevent Autoimmunity After Alemtuzumab Treatment of Multiple Sclerosis Unknown status NCT01712945 Phase 1, Phase 2 Palifermin;Alemtuzumab
41 Project RAP: Reaching Adolescents for Prevention Unknown status NCT00183157 Phase 2
42 Residual Effects of Intoxication on Student Performance Unknown status NCT00183170 Phase 2 Beer (alcohol)
43 Repeated-Dose Oral N-acetylcysteine for the Treatment of Parkinson's Disease Completed NCT02212678 Phase 2 N-acetylcysteine capsule
44 Gemcitabine and Vinorelbine in Treating Young Patients With Recurrent or Refractory Hodgkin's Lymphoma Completed NCT00070304 Phase 2 gemcitabine hydrochloride;vinorelbine tartrate
45 Fetal Alcohol Syndrome: Socio-Cognitive Habilitation Completed NCT00164229 Phase 1, Phase 2
46 CCI-779 and Rituximab in Treating Patients With Relapsed or Refractory Non-Hodgkin's Lymphoma Completed NCT00109967 Phase 2 temsirolimus
47 Safety and Efficacy of Ranibizumab for Diabetic Macular Edema Completed NCT01982435 Phase 1, Phase 2 Ranibizumab;Ranibizumab
48 WEE1 Inhibitor MK-1775 and Irinotecan Hydrochloride in Treating Younger Patients With Relapsed or Refractory Solid Tumors Recruiting NCT02095132 Phase 1, Phase 2 Irinotecan Hydrochloride;WEE1 Inhibitor AZD1775
49 Prevention of Macular Edema In Patients With Diabetic Retinopathy Undergoing Cataract Surgery Recruiting NCT01988246 Phase 1, Phase 2 Aflibercept;Sham
50 Cisplatin With or Without Veliparib in Treating Patients With Stage IV Triple-Negative and/or BRCA Mutation-Associated Breast Cancer Recruiting NCT02595905 Phase 2 Cisplatin;Veliparib

Search NIH Clinical Center for Cole Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypopigmentation

Genetic Tests for Cole Disease

Genetic tests related to Cole Disease:

id Genetic test Affiliating Genes
1 Cole Disease 29 24 ENPP1

Anatomical Context for Cole Disease

MalaCards organs/tissues related to Cole Disease:

39
Skin, Breast, Lung, Eye, Bone, Heart, Testes

Publications for Cole Disease

Articles related to Cole Disease:

id Title Authors Year
1
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient. ( 26617416 )
2016
2
Cole disease: a case report and literature review. ( 25065726 )
2014
3
Cole Disease Results from Mutations in ENPP1. ( 24075184 )
2013
4
Palmoplantar hyperkeratoses and hypopigmentation. Cole disease. ( 21597676 )
2011
5
Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. ( 19380683 )
2009
6
Cole disease: hypopigmentation with punctate keratosis of the palms and soles. ( 12220272 )
2002

Variations for Cole Disease

UniProtKB/Swiss-Prot genetic disease variations for Cole Disease:

71
id Symbol AA change Variation ID SNP ID
1 ENPP1 p.Cys149Ser VAR_070782 rs397518477
2 ENPP1 p.Cys164Ser VAR_070783 rs397518476
3 ENPP1 p.Cys177Tyr VAR_070784 rs397518475
4 ENPP1 p.Cys133Arg VAR_077257
5 ENPP1 p.Cys177Ser VAR_077258

ClinVar genetic disease variations for Cole Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ENPP1 NM_006208.2(ENPP1): c.530G> A (p.Cys177Tyr) single nucleotide variant Pathogenic rs397518475 GRCh37 Chromosome 6, 132172381: 132172381
2 ENPP1 NM_006208.2(ENPP1): c.491G> C (p.Cys164Ser) single nucleotide variant Pathogenic rs397518476 GRCh37 Chromosome 6, 132172342: 132172342
3 ENPP1 NM_006208.2(ENPP1): c.446G> C (p.Cys149Ser) single nucleotide variant Pathogenic rs397518477 GRCh37 Chromosome 6, 132172297: 132172297

Expression for Cole Disease

Search GEO for disease gene expression data for Cole Disease.

Pathways for Cole Disease

GO Terms for Cole Disease

Sources for Cole Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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