MCID: MLT086
MIFTS: 52

Multiple Endocrine Neoplasia, Type Iv

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Gastrointestinal diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Multiple Endocrine Neoplasia, Type Iv

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type Iv:

Name: Multiple Endocrine Neoplasia, Type Iv 57 12 13 73
Multiple Endocrine Neoplasia Type 4 12 59 15
Men4 57 59 75
Multiple Endocrine Neoplasia, Type 4 29 6
Neoplasia, Endocrine, Multiple, Type Iv 40
Multiple Endocrine Neoplasia 4 75

Characteristics:

Orphanet epidemiological data:

59
multiple endocrine neoplasia type 4
Inheritance: Autosomal dominant,Not applicable;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable manifestations
onset of tumors usually in adulthood


HPO:

32
multiple endocrine neoplasia, type iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Multiple Endocrine Neoplasia, Type Iv

UniProtKB/Swiss-Prot : 75 Multiple endocrine neoplasia 4: Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2.

MalaCards based summary : Multiple Endocrine Neoplasia, Type Iv, also known as multiple endocrine neoplasia type 4, is related to multiple endocrine neoplasia and carney complex variant. An important gene associated with Multiple Endocrine Neoplasia, Type Iv is CDKN1B (Cyclin Dependent Kinase Inhibitor 1B), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Mitotic G1-G1/S phases. The drugs Dutasteride and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and cervix, and related phenotypes are hyperparathyroidism and extrahepatic cholestasis

Description from OMIM: 610755

Related Diseases for Multiple Endocrine Neoplasia, Type Iv

Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iib
Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iv

Diseases related to Multiple Endocrine Neoplasia, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia 29.3 CDKN1B MEN1 PRKAR1A RET
2 carney complex variant 28.9 AIP CDKN1B MEN1 PRKAR1A
3 multiple endocrine neoplasia, type i 27.0 CDKN1B CDKN2C MEN1 PRKAR1A PRL RET
4 familial isolated pituitary adenoma 10.4 AIP CDKN1B
5 hyperparathyroidism 2 with jaw tumors 10.4 MEN1 RET
6 silent pituitary adenoma 10.4 AIP MEN1
7 multiple endocrine neoplasia, type iib 10.4 MEN1 RET
8 null pituitary adenoma 10.4 AIP MEN1
9 ectopic cushing syndrome 10.3 MEN1 RET
10 parathyroid gland disease 10.3 MEN1 RET
11 multiple endocrine neoplasia, type iia 10.3 MEN1 RET
12 parathyroid carcinoma 10.3 MEN1 RET
13 pituitary adenoma 1, multiple types 10.2 AIP PRL
14 pituitary apoplexy 10.2 AIP PRL
15 gigantism 10.2 AIP PRL
16 follicular adenoma 10.2 CDKN1B RET
17 hyperpituitarism 10.2 AIP PRL
18 lipomatosis 10.1 MEN1 PRKAR1A
19 adrenal cortex disease 10.1 PRKAR1A PRL
20 adrenal gland disease 10.0 PRKAR1A PRL
21 pituitary gland disease 10.0 MEN1 PRL
22 adrenal gland hyperfunction 9.9 PRKAR1A PRL
23 autosomal genetic disease 9.8 MEN1 PRKAR1A RET
24 retinal cancer 9.8 CDK2 CDKN1B
25 hormone producing pituitary cancer 9.8 AIP MEN1 PRKAR1A
26 functioning pituitary adenoma 9.8 AIP MEN1 PRL
27 endocrine organ benign neoplasm 9.7 AIP MEN1 PRL
28 pituitary tumors 9.7 AIP MEN1 PRL
29 organ system benign neoplasm 9.7 AIP MEN1 PRL
30 sensory system cancer 9.7 CDK2 CDKN1B
31 acromegaly 9.7 AIP MEN1 PRL
32 parathyroid adenoma 9.7 CDKN2C MEN1 RET
33 von hippel-lindau syndrome 9.7 MEN1 RET
34 growth hormone secreting pituitary adenoma 9.6 AIP PRKAR1A PRL
35 ocular cancer 9.6 CDK2 CDKN1B
36 hyperparathyroidism 9.5 CDKN1B MEN1 PRKAR1A RET
37 nervous system cancer 9.4 CDK2 CDKN1B
38 cell type benign neoplasm 9.3 AIP MEN1 PRL RET
39 adenoma 9.3 AIP MEN1 PRL RET
40 pituitary adenoma, prolactin-secreting 9.2 AIP MEN1 PRKAR1A PRL
41 primary hyperparathyroidism 8.9 CDKN1B MEN1 PRKAR1A PRL RET

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia, Type Iv:



Diseases related to Multiple Endocrine Neoplasia, Type Iv

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type Iv

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
parathyroid adenoma
pituitary adenoma
acromegaly
carcinoid tumors

Respiratory Airways:
bronchial carcinoid

Genitourinary Kidneys:
renal angiomyolipoma

Neoplasia:
pancreatic endocrine neoplasia
papillary thyroid cancer
neuroendocrine cervical carcinoma


Clinical features from OMIM:

610755

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iv:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000843
2 extrahepatic cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012334
3 increased glucagon level 59 32 occasional (7.5%) Occasional (29-5%) HP:0030688
4 carcinoid tumor 59 32 Occasional (29-5%) HP:0100570
5 parathyroid adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002897
6 hypercalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003072
7 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
8 parathyroid hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008208
9 hyperinsulinemic hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0000825
10 growth hormone excess 59 32 frequent (33%) Frequent (79-30%) HP:0000845
11 thyroid adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0000854
12 subcutaneous lipoma 59 32 frequent (33%) Frequent (79-30%) HP:0001031
13 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
14 zollinger-ellison syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0002044
15 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574
16 pituitary adenoma 59 32 Frequent (79-30%) HP:0002893
17 peptic ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0004398
18 pituitary prolactin cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0006767
19 adrenocortical adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0008256
20 fasting hyperinsulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0008283
21 angiofibromas 59 32 frequent (33%) Frequent (79-30%) HP:0010615
22 pituitary growth hormone cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0011760
23 pituitary null cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0011761
24 insulinoma 59 32 frequent (33%) Frequent (79-30%) HP:0012197
25 esophagitis 59 32 frequent (33%) Frequent (79-30%) HP:0100633
26 confetti-like hypopigmented macules 59 32 occasional (7.5%) Occasional (29-5%) HP:0007449
27 pituitary corticotropic cell adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0008291
28 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
29 increased urinary cortisol level 59 32 occasional (7.5%) Occasional (29-5%) HP:0012030
30 thymoma 59 32 very rare (1%) Very rare (<4-1%) HP:0100522
31 cervix cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0030079
32 testicular neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010788
33 renal angiomyolipoma 59 32 frequent (33%) Frequent (79-30%) HP:0006772
34 pulmonary carcinoid tumor 59 32 frequent (33%) Frequent (79-30%) HP:0030445
35 parathyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006780
36 abnormality of the endocrine system 59 Very frequent (99-80%)
37 neuroendocrine neoplasm 59 Frequent (79-30%)
38 abnormality of pancreas physiology 59 Frequent (79-30%)
39 hypercortisolism 59 Occasional (29-5%)
40 abnormality of the urinary system 32 HP:0000079
41 increased circulating cortisol level 32 occasional (7.5%) HP:0003118

GenomeRNAi Phenotypes related to Multiple Endocrine Neoplasia, Type Iv according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.15 RET CDKN2C CDKN1B PRKAR1A
2 Decreased viability GR00221-A-2 10.15 PRKAR1A RET CDK2
3 Decreased viability GR00221-A-3 10.15 PRKAR1A CDK2
4 Decreased viability GR00221-A-4 10.15 PRKAR1A RET
5 Decreased viability GR00231-A 10.15 RET
6 Decreased viability GR00301-A 10.15 RET CDK2 CDKN2C
7 Decreased viability GR00342-S-2 10.15 CDKN2C
8 Decreased viability GR00402-S-2 10.15 RET CDK2 CDKN2C CDKN1B PRKAR1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 PRKAR1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.74 MEN1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.74 CDK2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 CDK2 MEN1 PRKAR1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.74 MEN1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.74 CDK2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.74 CDK2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.74 PRKAR1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 PRKAR1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 MEN1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.74 PRKAR1A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.74 PRKAR1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.74 CDK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.74 PRKAR1A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.74 CDK2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 MEN1 CDK2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 MEN1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.74 CDK2 MEN1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 PRKAR1A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 CDK2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 MEN1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.74 CDK2

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia, Type Iv:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.08 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
2 cardiovascular system MP:0005385 10.07 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
3 cellular MP:0005384 10.05 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
4 homeostasis/metabolism MP:0005376 10.03 CDK2 CDKN1B CDKN2C MEN1 PRKAR1A PRL
5 growth/size/body region MP:0005378 10 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
6 embryo MP:0005380 9.97 AIP CDK2 CDKN1B MEN1 PRKAR1A RET
7 immune system MP:0005387 9.95 CDK2 CDKN1B CDKN2C MEN1 PRKAR1A PRL
8 integument MP:0010771 9.85 AIP CDK2 CDKN1B CDKN2C PRKAR1A PRL
9 liver/biliary system MP:0005370 9.8 AIP CDK2 CDKN1B MEN1 PRKAR1A PRL
10 mortality/aging MP:0010768 9.8 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
11 neoplasm MP:0002006 9.56 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A
12 muscle MP:0005369 9.55 CDK2 CDKN1B MEN1 PRKAR1A RET
13 reproductive system MP:0005389 9.17 CDK2 CDKN1B CDKN2C MEN1 PRKAR1A PRL

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iv

Drugs for Multiple Endocrine Neoplasia, Type Iv (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dutasteride Approved, Investigational Phase 1, Phase 2 164656-23-9 152945 6918296
2
Methyltestosterone Approved Phase 1, Phase 2 58-18-4 6010
3
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
4
Testosterone enanthate Approved Phase 1, Phase 2 315-37-7 9416
5
Testosterone undecanoate Approved, Investigational Phase 1, Phase 2 5949-44-0
6 5-alpha Reductase Inhibitors Phase 1, Phase 2
7 Anabolic Agents Phase 1, Phase 2
8 Androgens Phase 1, Phase 2
9 Antineoplastic Agents, Hormonal Phase 1, Phase 2
10 Contraceptive Agents Phase 1, Phase 2
11 Hormone Antagonists Phase 1, Phase 2
12 Hormones Phase 1, Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
14 Steroid Synthesis Inhibitors Phase 1, Phase 2
15 Testosterone 17 beta-cypionate Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ejaculatory Sparing vs. Non-ejaculatory Sparing GreenLight Laser Photoselective Vaporization of the Prostate Unknown status NCT02749604 Phase 4
2 Oral Androgens in Man-4: (Short Title: Oral T-4) Completed NCT00399165 Phase 1, Phase 2 Testosterone Enanthate;Testosterone Enanthate;Dutasteride;Dutasteride
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type Iv

Genetic Tests for Multiple Endocrine Neoplasia, Type Iv

Genetic tests related to Multiple Endocrine Neoplasia, Type Iv:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 4 29 CDKN1B

Anatomical Context for Multiple Endocrine Neoplasia, Type Iv

MalaCards organs/tissues related to Multiple Endocrine Neoplasia, Type Iv:

41
Thyroid, Pituitary, Cervix, Pancreas, Prostate

Publications for Multiple Endocrine Neoplasia, Type Iv

Articles related to Multiple Endocrine Neoplasia, Type Iv:

# Title Authors Year
1
Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4 (MEN4). ( 25416039 )
2014
2
Multiple endocrine neoplasia type 4. ( 23652671 )
2013

Variations for Multiple Endocrine Neoplasia, Type Iv

ClinVar genetic disease variations for Multiple Endocrine Neoplasia, Type Iv:

6
(show top 50) (show all 254)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN1B NM_004064.4(CDKN1B): c.227G> A (p.Trp76Ter) single nucleotide variant Pathogenic rs121917832 GRCh37 Chromosome 12, 12871000: 12871000
2 CDKN1B NM_004064.4(CDKN1B): c.227G> A (p.Trp76Ter) single nucleotide variant Pathogenic rs121917832 GRCh38 Chromosome 12, 12718066: 12718066
3 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
4 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
5 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
6 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
7 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
8 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
9 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
10 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
11 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
12 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
13 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
14 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
15 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
16 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
17 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
18 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh38 Chromosome 10, 43113622: 43113622
19 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
20 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
21 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
22 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
23 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
24 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh38 Chromosome 10, 43114488: 43114488
25 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
26 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
27 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569
28 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh38 Chromosome 10, 43120120: 43120121
29 CDKN1B NM_004064.4(CDKN1B): c.59_77dup19 (p.Ser27Glyfs) duplication Pathogenic rs786201007 GRCh38 Chromosome 12, 12717898: 12717916
30 CDKN1B NM_004064.4(CDKN1B): c.59_77dup19 (p.Ser27Glyfs) duplication Pathogenic rs786201007 GRCh37 Chromosome 12, 12870832: 12870850
31 CDKN1B NM_004064.4(CDKN1B): c.206C> T (p.Pro69Leu) single nucleotide variant Pathogenic rs777354267 GRCh38 Chromosome 12, 12718045: 12718045
32 CDKN1B NM_004064.4(CDKN1B): c.206C> T (p.Pro69Leu) single nucleotide variant Pathogenic rs777354267 GRCh37 Chromosome 12, 12870979: 12870979
33 CDKN1B NM_004064.4(CDKN1B): c.-456_-453delCCTT deletion Pathogenic rs786201010 GRCh37 Chromosome 12, 12870318: 12870321
34 CDKN1B NM_004064.4(CDKN1B): c.-456_-453delCCTT deletion Pathogenic rs786201010 GRCh38 Chromosome 12, 12717384: 12717387
35 CDKN1B NM_004064.4(CDKN1B): c.374_375delCT (p.Ser125Terfs) deletion Pathogenic rs786201011 GRCh37 Chromosome 12, 12871147: 12871148
36 CDKN1B NM_004064.4(CDKN1B): c.374_375delCT (p.Ser125Terfs) deletion Pathogenic rs786201011 GRCh38 Chromosome 12, 12718213: 12718214
37 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh37 Chromosome 12, 12870745: 12870748
38 CDKN1B NM_004064.4(CDKN1B): c.-29_-26delAGAG deletion Conflicting interpretations of pathogenicity rs774454456 GRCh38 Chromosome 12, 12717811: 12717814
39 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh38 Chromosome 12, 12718236: 12718236
40 CDKN1B NM_004064.4(CDKN1B): c.397C> A (p.Pro133Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137985549 GRCh37 Chromosome 12, 12871170: 12871170
41 CDKN1B NM_004064.4(CDKN1B): c.165G> A (p.Ala55=) single nucleotide variant Benign rs16908375 GRCh38 Chromosome 12, 12718004: 12718004
42 CDKN1B NM_004064.4(CDKN1B): c.165G> A (p.Ala55=) single nucleotide variant Benign rs16908375 GRCh37 Chromosome 12, 12870938: 12870938
43 CDKN1B NM_004064.4(CDKN1B): c.258G> A (p.Glu86=) single nucleotide variant Benign rs142940486 GRCh38 Chromosome 12, 12718097: 12718097
44 CDKN1B NM_004064.4(CDKN1B): c.258G> A (p.Glu86=) single nucleotide variant Benign rs142940486 GRCh37 Chromosome 12, 12871031: 12871031
45 CDKN1B NM_004064.4(CDKN1B): c.341C> G (p.Pro114Arg) single nucleotide variant Uncertain significance rs755989911 GRCh38 Chromosome 12, 12718180: 12718180
46 CDKN1B NM_004064.4(CDKN1B): c.341C> G (p.Pro114Arg) single nucleotide variant Uncertain significance rs755989911 GRCh37 Chromosome 12, 12871114: 12871114
47 CDKN1B NM_004064.4(CDKN1B): c.384G> T (p.Thr128=) single nucleotide variant Likely benign rs878854622 GRCh38 Chromosome 12, 12718223: 12718223
48 CDKN1B NM_004064.4(CDKN1B): c.384G> T (p.Thr128=) single nucleotide variant Likely benign rs878854622 GRCh37 Chromosome 12, 12871157: 12871157
49 CDKN1B NM_004064.4(CDKN1B): c.425C> T (p.Thr142Met) single nucleotide variant Uncertain significance rs771115907 GRCh38 Chromosome 12, 12718264: 12718264
50 CDKN1B NM_004064.4(CDKN1B): c.425C> T (p.Thr142Met) single nucleotide variant Uncertain significance rs771115907 GRCh37 Chromosome 12, 12871198: 12871198

Expression for Multiple Endocrine Neoplasia, Type Iv

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type Iv.

Pathways for Multiple Endocrine Neoplasia, Type Iv

GO Terms for Multiple Endocrine Neoplasia, Type Iv

Cellular components related to Multiple Endocrine Neoplasia, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.17 AIP CDK2 CDKN1B CDKN2C MEN1 PRKAR1A

Biological processes related to Multiple Endocrine Neoplasia, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.43 CDK2 CDKN1B
2 negative regulation of epithelial cell proliferation GO:0050680 9.4 CDKN1B MEN1
3 negative regulation of cell cycle GO:0045786 9.37 CDKN1B MEN1
4 phosphorylation GO:0016310 9.35 CDK2 CDKN1B CDKN2C PRKAR1A RET
5 G1/S transition of mitotic cell cycle GO:0000082 9.33 CDK2 CDKN1B CDKN2C
6 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.32 CDKN1B CDKN2C
7 negative regulation of phosphorylation GO:0042326 9.26 CDKN1B CDKN2C
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 8.8 CDKN1B CDKN2C MEN1

Molecular functions related to Multiple Endocrine Neoplasia, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.26 CDK2 CDKN1B
2 cyclin binding GO:0030332 9.16 CDK2 CDKN1B
3 kinase activity GO:0016301 9.02 CDK2 CDKN1B CDKN2C PRKAR1A RET
4 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.96 CDKN1B CDKN2C

Sources for Multiple Endocrine Neoplasia, Type Iv

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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45 MESH via Orphanet
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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