MEN4
MCID: MLT086
MIFTS: 50

Multiple Endocrine Neoplasia, Type Iv (MEN4)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare 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 70
Multiple Endocrine Neoplasia Type 4 12 58 15
Men4 57 58 72
Multiple Endocrine Neoplasia, Type 4 29 6
Neoplasia, Endocrine, Multiple, Type Iv 39
Multiple Endocrine Neoplasia 4 72

Characteristics:

Orphanet epidemiological data:

58
multiple endocrine neoplasia type 4
Inheritance: Autosomal dominant,Not applicable;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable manifestations
onset of tumors usually in adulthood


HPO:

31
multiple endocrine neoplasia, type iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Multiple Endocrine Neoplasia, Type Iv

Disease Ontology : 12 A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has material basis in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked.

MalaCards based summary : Multiple Endocrine Neoplasia, Type Iv, also known as multiple endocrine neoplasia type 4, is related to multiple endocrine neoplasia and pituitary adenoma. 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 Transcriptional misregulation in cancer. Affiliated tissues include pituitary, thyroid and cervix, and related phenotypes are hyperparathyroidism and hypercalcemia

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 610755 PS131100

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 top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia 30.9 RET PRKAR1A MEN1 CDKN2C CDKN1B CDC73
2 pituitary adenoma 30.8 USP8 PRKAR1A MEN1 GPR101 CDKN1B AIP
3 neuroendocrine tumor 30.0 RET MEN1 CDKN1B
4 thyroid carcinoma, familial medullary 30.0 RET PRKAR1A MEN1
5 hyperparathyroidism 1 29.9 MEN1 CDC73
6 hyperparathyroidism 29.9 RET PRKAR1A MEN1 CDKN1B CDC73
7 primary pigmented nodular adrenocortical disease 29.9 PRKAR1A MEN1 GPR101
8 pituitary tumors 29.8 MEN1 AIP
9 acromegaly 29.7 PRKAR1A MEN1 GPR101 AIP
10 thyroid gland medullary carcinoma 29.7 RET MEN1
11 primary hyperparathyroidism 29.5 RET PRKAR1A MEN1 GPR19 CDKN1B CDC73
12 parathyroid adenoma 29.1 RET PRKAR1A MEN1 CDKN2C CDKN1B CDC73
13 adenoma 29.0 USP8 RET PRKAR1A MEN1 GPR101 CDC73
14 carney complex variant 28.7 USP8 USP48 RET PRKAR1A MEN1 GPR101
15 multiple endocrine neoplasia, type i 28.6 RET PRKAR1A MEN1 GPR101 CDKN2C CDKN1B
16 null pituitary adenoma 10.3 MEN1 AIP
17 multiple mucosal neuroma 10.3 RET MEN1
18 skin lipoma 10.3 RET MEN1
19 silent pituitary adenoma 10.3 MEN1 AIP
20 small intestine neuroendocrine neoplasm 10.3 MEN1 CDKN1B
21 pituitary infarct 10.2 MEN1 AIP
22 pelvic lipomatosis 10.2 USP48 GPR101
23 thyroid tumor 10.2 RET PRKAR1A
24 gigantism 10.2 GPR101 AIP
25 small intestine benign neoplasm 10.2 MEN1 CDKN1B
26 aip familial isolated pituitary adenomas 10.2 USP8 AIP
27 familial isolated pituitary adenoma 10.2 MEN1 CDKN1B AIP
28 pituitary apoplexy 10.2 MEN1 AIP
29 pituitary adenoma 4, acth-secreting 10.2 USP8 AIP
30 pituitary adenoma 1, multiple types 10.2 MEN1 AIP
31 follicular adenoma 10.1 RET MEN1 CDKN1B
32 persistent generalized lymphadenopathy 10.1 RET MEN1
33 clear cell adenoma 10.1 MEN1 CDC73
34 paraganglioma and gastric stromal sarcoma 10.1 RET PRKAR1A MEN1
35 multiple endocrine neoplasia, type iib 10.1 RET MEN1
36 suppression of tumorigenicity 12 10.1
37 small cell carcinoma 10.1
38 neurofibromatosis 10.1
39 neurofibroma 10.1
40 pituitary adenoma, prolactin-secreting 10.1 PRKAR1A MEN1 AIP
41 thyroid gland follicular carcinoma 10.0 RET PRKAR1A CDKN1B
42 hyperparathyroidism 2 with jaw tumors 10.0 RET MEN1 CDC73
43 parathyroid carcinoma 10.0 RET MEN1 CDC73
44 adrenal gland disease 10.0 USP8 PRKAR1A MEN1
45 cowden syndrome 10.0 RET PRKAR1A MEN1
46 hormone producing pituitary cancer 10.0 PRKAR1A MEN1 GPR101 AIP
47 hyperpituitarism 10.0 PRKAR1A MEN1 GPR101 AIP
48 growth hormone secreting pituitary adenoma 10.0 PRKAR1A MEN1 GPR101 AIP
49 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9 RET PRKAR1A MEN1
50 multiple endocrine neoplasia, type iia 9.9 RET MEN1 CDKN1B CDC73

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

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iv:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000843
2 hypercalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003072
3 parathyroid adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002897
4 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
5 parathyroid hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008208
6 peptic ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0004398
7 growth hormone excess 58 31 frequent (33%) Frequent (79-30%) HP:0000845
8 pituitary growth hormone cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0011760
9 pituitary prolactin cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0006767
10 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
11 subcutaneous lipoma 58 31 frequent (33%) Frequent (79-30%) HP:0001031
12 esophagitis 58 31 frequent (33%) Frequent (79-30%) HP:0100633
13 renal angiomyolipoma 58 31 frequent (33%) Frequent (79-30%) HP:0006772
14 adrenocortical adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0008256
15 thyroid adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0000854
16 episodic abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002574
17 fasting hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008283
18 hyperinsulinemic hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0000825
19 zollinger-ellison syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0002044
20 pulmonary carcinoid tumor 58 31 frequent (33%) Frequent (79-30%) HP:0030445
21 pituitary null cell adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0011761
22 angiofibromas 58 31 frequent (33%) Frequent (79-30%) HP:0010615
23 insulinoma 58 31 frequent (33%) Frequent (79-30%) HP:0012197
24 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
25 cervix cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0030079
26 testicular neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010788
27 extrahepatic cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012334
28 parathyroid carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006780
29 pituitary corticotropic cell adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0008291
30 increased urinary cortisol level 58 31 occasional (7.5%) Occasional (29-5%) HP:0012030
31 increased glucagon level 58 31 occasional (7.5%) Occasional (29-5%) HP:0030688
32 confetti-like hypopigmented macules 58 31 occasional (7.5%) Occasional (29-5%) HP:0007449
33 increased circulating cortisol level 31 occasional (7.5%) HP:0003118
34 thymoma 58 31 very rare (1%) Very rare (<4-1%) HP:0100522
35 pituitary adenoma 58 31 Frequent (79-30%) HP:0002893
36 carcinoid tumor 58 31 Occasional (29-5%) HP:0100570
37 abnormality of the urinary system 31 HP:0000079
38 abnormality of the endocrine system 58 Very frequent (99-80%)
39 hypercortisolism 58 Occasional (29-5%)
40 neuroendocrine neoplasm 58 Frequent (79-30%)
41 abnormality of pancreas physiology 58 Frequent (79-30%)
42 carcinoma 31 HP:0030731

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
renal angiomyolipoma

Respiratory Airways:
bronchial carcinoid

Endocrine Features:
parathyroid adenoma
pituitary adenoma
acromegaly
carcinoid tumors

Neoplasia:
pancreatic endocrine neoplasia
papillary thyroid cancer
neuroendocrine cervical carcinoma

Clinical features from OMIM®:

610755 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.44 CDKN1B CDKN2C PRKAR1A RET
2 Decreased viability GR00221-A-2 9.44 PRKAR1A RET
3 Decreased viability GR00221-A-3 9.44 PRKAR1A
4 Decreased viability GR00221-A-4 9.44 PRKAR1A RET
5 Decreased viability GR00249-S 9.44 CDKN2C
6 Decreased viability GR00301-A 9.44 CDKN2C RET
7 Decreased viability GR00402-S-2 9.44 RET

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 AIP AP2S1 CDC73 CDKN1B CDKN2C MEN1
2 cellular MP:0005384 10.06 AIP CDC73 CDKN1B CDKN2C FRS3 MEN1
3 growth/size/body region MP:0005378 10 AIP AP2S1 CDC73 CDKN1B CDKN2C FRS3
4 embryo MP:0005380 9.97 AIP AP2S1 CDC73 CDKN1B MEN1 MRPS25
5 digestive/alimentary MP:0005381 9.85 AP2S1 CDC73 CDKN1B MEN1 PRKAR1A RET
6 liver/biliary system MP:0005370 9.63 AIP CDC73 CDKN1B MEN1 PRKAR1A USP8
7 neoplasm MP:0002006 9.5 AIP CDC73 CDKN1B CDKN2C MEN1 PRKAR1A
8 reproductive system MP:0005389 9.23 AP2S1 CDC73 CDKN1B CDKN2C FRS3 MEN1

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iv

Search Clinical Trials , 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:

40
Pituitary, Thyroid, Cervix, Pancreas

Publications for Multiple Endocrine Neoplasia, Type Iv

Articles related to Multiple Endocrine Neoplasia, Type Iv:

(show top 50) (show all 72)
# Title Authors PMID Year
1
A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome. 57 6 61
24819502 2014
2
A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype. 61 6 57
23555276 2013
3
Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype. 6 57 61
22129891 2012
4
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. 6 57
20824794 2010
5
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. 6 57
17519308 2007
6
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. 57 6
17030811 2006
7
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. 6
29909963 2018
8
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 6
15753368 2005
9
Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. 57
12036912 2002
10
The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 6
10490816 1999
11
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 6
10445857 1999
12
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 6
9242375 1997
13
The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 6
9012462 1997
14
RET activation by germline MEN2A and MEN2B mutations. 6
8570194 1995
15
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant. 61
33150274 2020
16
Inherited syndromes involving pancreatic neuroendocrine tumors. 61
32655935 2020
17
Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype. 61
32232325 2020
18
Co-occurrence of multiple endocrine neoplasia type 4 and spinal neurofibromatosis: a case report. 61
32052251 2020
19
[Inherited tumor syndromes of gastroenteropancreatic and thoracic neuroendocrine neoplasms]. 61
32035641 2020
20
Genetic and Epigenetic Causes of Pituitary Adenomas. 61
33574795 2020
21
[Neuroendocrine markers in parathyroid tumors]. 61
33274631 2020
22
Somatic and germline mutations in the pathogenesis of pituitary adenomas. 61
31658440 2019
23
Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. 61
31793361 2019
24
Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases. 61
30990521 2019
25
Multiple endocrine neoplasia: an update. 61
31387156 2019
26
[Multiple Endocrine Neoplasia]. 61
31296813 2019
27
Familial and Hereditary Forms of Primary Hyperparathyroidism. 61
30641519 2019
28
Primary Hyperparathyroidism. 61
30641515 2019
29
Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. 61
30665551 2018
30
First report of concomitant pheochromocytoma and duodenal neuroendocrine tumour in a sporadic multiple endocrine neoplasia type 1. 61
30181398 2018
31
Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms. 61
28874394 2018
32
Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives. 61
30013307 2018
33
The Importance of an Early and Accurate MEN1 Diagnosis. 61
30254610 2018
34
Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue. 61
29136674 2017
35
MEN4 and CDKN1B mutations: the latest of the MEN syndromes. 61
28824003 2017
36
Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. 61
28674121 2017
37
Genetics of medullary thyroid cancer: An overview. 61
28506408 2017
38
Genetics of parathyroid tumours. 61
27306766 2016
39
Novel Genetic Causes of Pituitary Adenomas. 61
27742789 2016
40
Multiple Endocrine Neoplasia: A Genetically Diverse Group of Familial Tumor Syndromes. 61
27617149 2016
41
Multiple Endocrine Neoplasia Syndromes: A Comprehensive Imaging Review. 61
27153782 2016
42
Animal models of multiple endocrine neoplasia. 61
26184857 2016
43
On an Easy Way To Prepare Metal-Nitrogen Doped Carbon with Exclusive Presence of MeN4-type Sites Active for the ORR. 61
26651534 2016
44
MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics. 61
25592387 2016
45
[Multiple Endocrine Neoplasia I (Wermers Syndrome), Forms of Clinical Manifestation, 5 Case Studies]. 61
27734708 2016
46
Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4 (MEN4). 61
25416039 2015
47
Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B. 61
26257968 2015
48
Molecular genetic advances in pituitary tumor development. 61
30289047 2015
49
Endocrine cancer syndromes: an update. 61
25243504 2014
50
Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations. 61
24920291 2014

Variations for Multiple Endocrine Neoplasia, Type Iv

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

6 (show top 50) (show all 358)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPR19 , CDKN1B NM_004064.4(CDKN1B):c.-454_-451del Deletion Pathogenic 183394 rs786201010 GRCh37: 12:12870318-12870321
GRCh38: 12:12717384-12717387
2 CDKN1B NM_004064.4(CDKN1B):c.372_373CT[1] (p.Asn124_Ser125insTer) Microsatellite Pathogenic 183395 rs786201011 GRCh37: 12:12871145-12871146
GRCh38: 12:12718211-12718212
3 CDKN1B NM_004064.4(CDKN1B):c.49_52del (p.Asp17fs) Deletion Pathogenic 404266 rs1060500186 GRCh37: 12:12870821-12870824
GRCh38: 12:12717887-12717890
4 CDKN1B NM_004064.4(CDKN1B):c.267C>G (p.Tyr89Ter) SNV Pathogenic 469010 rs532903617 GRCh37: 12:12871040-12871040
GRCh38: 12:12718106-12718106
5 CDKN1B NC_000012.12:g.(?_12717384)_(12718946_?)del Deletion Pathogenic 831994 GRCh37: 12:12870318-12871880
GRCh38:
6 CDKN1B NC_000012.12:g.(?_12717830)_(12718956_?)del Deletion Pathogenic 832716 GRCh37: 12:12870764-12871890
GRCh38:
7 CDKN1B NM_004064.5(CDKN1B):c.58C>T (p.Gln20Ter) SNV Pathogenic 843386 GRCh37: 12:12870831-12870831
GRCh38: 12:12717897-12717897
8 CDKN1B NM_004064.4(CDKN1B):c.217A>T (p.Lys73Ter) SNV Pathogenic 639545 rs1592280948 GRCh37: 12:12870990-12870990
GRCh38: 12:12718056-12718056
9 CDKN1B NM_004064.4(CDKN1B):c.251T>A (p.Leu84Ter) SNV Pathogenic 657339 rs1592280992 GRCh37: 12:12871024-12871024
GRCh38: 12:12718090-12718090
10 CDKN1B NM_004064.4(CDKN1B):c.215del (p.Gly72fs) Deletion Pathogenic 661423 rs1555085549 GRCh37: 12:12870986-12870986
GRCh38: 12:12718052-12718052
11 CDKN1B NM_004064.4(CDKN1B):c.227G>A (p.Trp76Ter) SNV Pathogenic 8823 rs121917832 GRCh37: 12:12871000-12871000
GRCh38: 12:12718066-12718066
12 CDKN1B NM_004064.5(CDKN1B):c.102_105del (p.Pro35fs) Deletion Pathogenic 947479 GRCh37: 12:12870874-12870877
GRCh38: 12:12717940-12717943
13 CDKN1B NM_004064.4(CDKN1B):c.59_77dup (p.Ser27fs) Duplication Pathogenic 183391 rs786201007 GRCh37: 12:12870830-12870831
GRCh38: 12:12717896-12717897
14 CDKN1B NM_004064.4(CDKN1B):c.285dup (p.Lys96fs) Duplication Pathogenic 536843 rs1555085575 GRCh37: 12:12871052-12871053
GRCh38: 12:12718118-12718119
15 CDKN1B NM_004064.5(CDKN1B):c.229_238dup (p.Glu80fs) Duplication Pathogenic 854005 GRCh37: 12:12870997-12870998
GRCh38: 12:12718063-12718064
16 CDKN1B NM_004064.5(CDKN1B):c.269dup (p.Pro91fs) Duplication Pathogenic 857540 GRCh37: 12:12871041-12871042
GRCh38: 12:12718107-12718108
17 CDKN1B NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs) Insertion Pathogenic 963142 GRCh37: 12:12871054-12871055
GRCh38: 12:12718120-12718121
18 CDKN1B NM_004064.4(CDKN1B):c.149_150GA[1] (p.Asp51fs) Microsatellite Pathogenic 689357 rs1592280833 GRCh37: 12:12870921-12870922
GRCh38: 12:12717987-12717988
19 CDKN1B NM_004064.5(CDKN1B):c.460C>T (p.Arg154Ter) SNV Pathogenic 1033632 GRCh37: 12:12871233-12871233
GRCh38: 12:12718299-12718299
20 overlap with 49 genes GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349) copy number loss Pathogenic 625596 GRCh37: 12:10336209-13535349
GRCh38:
21 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp) SNV Likely pathogenic 13918 rs77709286 GRCh37: 10:43609950-43609950
GRCh38: 10:43114502-43114502
22 RET NM_020975.6(RET):c.1888T>C (p.Cys630Arg) SNV Likely pathogenic 24908 rs377767404 GRCh37: 10:43609936-43609936
GRCh38: 10:43114488-43114488
23 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg) SNV Likely pathogenic 13917 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
24 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) SNV Likely pathogenic 13936 rs77724903 GRCh37: 10:43613908-43613908
GRCh38: 10:43118460-43118460
25 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) SNV Likely pathogenic 13909 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
26 RET NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) SNV Likely pathogenic 24901 rs79781594 GRCh37: 10:43609097-43609097
GRCh38: 10:43113649-43113649
27 RET NM_020975.6(RET):c.2410G>C (p.Val804Leu) SNV Likely pathogenic 38613 rs79658334 GRCh37: 10:43614996-43614996
GRCh38: 10:43119548-43119548
28 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Likely pathogenic 13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
29 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) SNV Likely pathogenic 13933 rs77939446 GRCh37: 10:43609070-43609070
GRCh38: 10:43113622-43113622
30 RET NM_020975.6(RET):c.2304G>C (p.Glu768Asp) SNV Likely pathogenic 13931 rs78014899 GRCh37: 10:43613840-43613840
GRCh38: 10:43118392-43118392
31 RET NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) Indel Likely pathogenic 38629 rs377767429 GRCh37: 10:43615568-43615569
GRCh38: 10:43120120-43120121
32 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala) SNV Likely pathogenic 13951 rs75234356 GRCh37: 10:43615592-43615592
GRCh38: 10:43120144-43120144
33 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) SNV Likely pathogenic 13916 rs77503355 GRCh37: 10:43609103-43609103
GRCh38: 10:43113655-43113655
34 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg) SNV Likely pathogenic 13929 rs76262710 GRCh37: 10:43609096-43609096
GRCh38: 10:43113648-43113648
35 CDKN1B NM_004064.4(CDKN1B):c.356T>C (p.Ile119Thr) SNV Conflicting interpretations of pathogenicity 307664 rs142833529 GRCh37: 12:12871129-12871129
GRCh38: 12:12718195-12718195
36 CDKN1B NM_004064.4(CDKN1B):c.482C>G (p.Ser161Cys) SNV Conflicting interpretations of pathogenicity 239625 rs373917399 GRCh37: 12:12871765-12871765
GRCh38: 12:12718831-12718831
37 CDKN1B NM_004064.4(CDKN1B):c.279G>A (p.Arg93=) SNV Conflicting interpretations of pathogenicity 412882 rs766901538 GRCh37: 12:12871052-12871052
GRCh38: 12:12718118-12718118
38 CDKN1B NM_004064.4(CDKN1B):c.407A>G (p.Asp136Gly) SNV Conflicting interpretations of pathogenicity 307666 rs546234840 GRCh37: 12:12871180-12871180
GRCh38: 12:12718246-12718246
39 CDKN1B NM_004064.4(CDKN1B):c.29G>A (p.Ser10Asn) SNV Uncertain significance 469019 rs1555085482 GRCh37: 12:12870802-12870802
GRCh38: 12:12717868-12717868
40 CDKN1B NM_004064.4(CDKN1B):c.271C>A (p.Pro91Thr) SNV Uncertain significance 469011 rs769828807 GRCh37: 12:12871044-12871044
GRCh38: 12:12718110-12718110
41 CDKN1B NM_004064.4(CDKN1B):c.283C>T (p.Pro95Ser) SNV Uncertain significance 404265 rs188579132 GRCh37: 12:12871056-12871056
GRCh38: 12:12718122-12718122
42 CDKN1B NM_004064.4(CDKN1B):c.25G>A (p.Gly9Arg) SNV Uncertain significance 404270 rs755225286 GRCh37: 12:12870798-12870798
GRCh38: 12:12717864-12717864
43 CDKN1B NM_004064.4(CDKN1B):c.111C>G (p.Asp37Glu) SNV Uncertain significance 570126 rs1565419320 GRCh37: 12:12870884-12870884
GRCh38: 12:12717950-12717950
44 CDKN1B NM_004064.4(CDKN1B):c.577C>A (p.Leu193Ile) SNV Uncertain significance 574361 rs73281150 GRCh37: 12:12871860-12871860
GRCh38: 12:12718926-12718926
45 CDKN1B NM_004064.4(CDKN1B):c.391G>T (p.Val131Leu) SNV Uncertain significance 576530 rs1565419631 GRCh37: 12:12871164-12871164
GRCh38: 12:12718230-12718230
46 CDKN1B NM_004064.4(CDKN1B):c.372C>A (p.Asn124Lys) SNV Uncertain significance 578370 rs760081465 GRCh37: 12:12871145-12871145
GRCh38: 12:12718211-12718211
47 CDKN1B NM_004064.4(CDKN1B):c.193C>G (p.Gln65Glu) SNV Uncertain significance 580572 rs1565419383 GRCh37: 12:12870966-12870966
GRCh38: 12:12718032-12718032
48 CDKN1B NM_004064.4(CDKN1B):c.245G>T (p.Gly82Val) SNV Uncertain significance 582797 rs767720666 GRCh37: 12:12871018-12871018
GRCh38: 12:12718084-12718084
49 CDKN1B NM_004064.4(CDKN1B):c.404C>G (p.Thr135Ser) SNV Uncertain significance 583222 rs1565419638 GRCh37: 12:12871177-12871177
GRCh38: 12:12718243-12718243
50 CDKN1B NM_004064.4(CDKN1B):c.*163T>G SNV Uncertain significance 802820 rs1592282711 GRCh37: 12:12874124-12874124
GRCh38: 12:12721190-12721190

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 USP8 MEN1 CDKN2C CDKN1B AIP
2 11.62 MEN1 CDKN2C CDKN1B
3 10.48 RET CDKN1B AIP

GO Terms for Multiple Endocrine Neoplasia, Type Iv

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.62 MEN1 CDKN2C CDKN1B CDC73
2 beta-catenin-TCF complex assembly GO:1904837 9.37 MEN1 CDC73
3 negative regulation of phosphorylation GO:0042326 9.26 CDKN2C CDKN1B
4 regulation of protein kinase A signaling GO:0010738 9.16 PRKAR1A AIP
5 negative regulation of epithelial cell proliferation GO:0050680 9.13 MEN1 CDKN1B CDC73
6 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 8.8 MEN1 CDKN2C CDKN1B

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 inhibitor activity GO:0004861 8.62 CDKN2C CDKN1B

Sources for Multiple Endocrine Neoplasia, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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