MCID: MLT024
MIFTS: 49

Multiple Endocrine Neoplasia Iia malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Multiple Endocrine Neoplasia Iia

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Sources:
60UMLS, 45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 11DISEASES, 19GeneReviews, 42NINDS, 43Novoseek, 33MeSH, 26ICD10 via Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Multiple Endocrine Neoplasia Iia, Aliases & Descriptions:

Name: Multiple Endocrine Neoplasia Iia 45 10
Multiple Endocrine Neoplasia Type 2a 9 41 20 47 22 60
Multiple Endocrine Neoplasia Type 2 19 41 20 47 22
Sipple Syndrome 9 41 11 47
Megalencephaly 41 42 47
Tropical Calcific Chronic Pancreatitis 41 47
Tropical Pancreatitis 41 47
Macrencephaly 41 47
Ptc Syndrome 41 47
Men 2a 41 43
 
Men2a 9 47
Men2 41 47
Tcp 41 47
Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma 41
Multiple Endocrine Neoplasia, Type Iia 45
Multiple Endocrine Neoplasia Ii 9
Tropical Calcific Pancreatitis 60
Men-2a Syndrome 41
Men 2 Syndrome 19
Men 2 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
multiple endocrine neoplasia type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy
multiple endocrine neoplasia type 2a:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 171400
Disease Ontology9 DOID:0050430
MeSH33 D018813
Orphanet47 653, 247698, 2477 103918, more
ICD10 via Orphanet26 D44.8, Q04.5, K86.1
MESH via Orphanet34 D018813
UMLS via Orphanet61 C0025268, C0221355, C2720434
ICD1025 Q04.5

Summaries for Multiple Endocrine Neoplasia Iia

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NINDS:42 Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and mental retardation. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn?t necessarily indicate abnormality. Large head size is passed down through the generations in some families.

MalaCards based summary: Multiple Endocrine Neoplasia Iia, also known as multiple endocrine neoplasia type 2a, is related to pancreatitis and adenoma, and has symptoms including abnormality of the fontanelles or cranial sutures, macrocephaly and dolichocephaly. An important gene associated with Multiple Endocrine Neoplasia Iia is RET (ret proto-oncogene). The compounds trypsinogen and calcium have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and colon.

Disease Ontology:9 An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.

NIH Rare Diseases:41 Multiple endocrine neoplasia, type 2 (men2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. endocrine glands most commonly involved include: adrenal (about half the time) parathyroid (20% of the time) thyroid (almost all of the time) men2 is caused by a defect in the ret gene. this defect causes many tumors to appear in the same person, but not necessarily at the same time. the adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid. the condition is usually inherited in an autosomal dominant pattern. men2 is divided into three subtypes: type 2a, type 2b, and familial medullary thyroid carcinoma (fmtc). these subtypes differ in their characteristic signs and symptoms and risk of specific tumors. the features of this disorder are relatively consistent within any one family. last updated: 8/25/2010

OMIM:45 Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including... (171400) more...

GeneReviews summary for men2

Related Diseases for Multiple Endocrine Neoplasia Iia

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Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type Iv multiple endocrine neoplasia iia
Multiple Endocrine Neoplasia Iib Multiple Endocrine Neoplasia 1

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis30.4SPINK1, CTRC
2adenoma30.3SPINK1, RET
3multiple endocrine neoplasia10.8
4hyperparathyroidism10.8
5primary hyperparathyroidism10.7
6thyroid cancer10.7
7von hippel-lindau syndrome10.7
8megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.7
9hydrocephalus10.5
10polymicrogyria10.5
11polydactyly10.5
12megalencephalic leukoencephalopathy with subcortical cysts10.4
13hemimegalencephaly10.4
14pheochromocytoma10.4
15adult respiratory distress syndrome10.4
16paraganglioma10.4
17phaeochromocytoma10.4
18amyloidosis10.4
19ganglioneuroblastoma10.4
20kidney disease10.4
21thyroiditis10.4
22medullary sponge kidney10.4
23gastrointestinal stromal tumor10.4
24parathyroid carcinoma10.4
25neuroblastoma10.4
26medullary thyroid carcinoma, familial10.4
27cervical neuroblastoma10.4
28acromegaly10.4
29cushing's syndrome10.4
30cervicitis10.4
31parathyroid adenoma10.4
32rhabdomyosarcoma10.4
33vaginitis10.4
34notalgia paresthetica10.4
35renal dysplasia10.4
36leukoencephalopathy, cystic, without megalencephaly10.4
37megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.4
38macrocephaly/megalencephaly syndrome, autosomal recessive10.3
39megalencephaly, polymicrogyria, and hydrocephalus syndrome10.3
40neurofibromatosis, type 210.3
41mantle cell lymphoma10.3
42neurofibromatosis10.3
43ganglioneuroma10.3
44megacolon10.3
45neuroendocrine tumor10.3
46neuroma10.3
47sporadic pheochromocytoma10.3
48megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 210.3
49megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 310.3
50polyhydramnios, megalencephaly, and symptomatic epilepsy10.3

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia Iia:



Diseases related to multiple endocrine neoplasia iia

Symptoms for Multiple Endocrine Neoplasia Iia

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Symptoms by clinical synopsis from OMIM:

171400

Clinical features from OMIM:

171400

Symptoms:

 47 (show all 81)
  • acute diarrhea
  • thyroid neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • anomalies of eyelids, eyelashes and lacrimal system
  • thick lips
  • anomalies of tongue, gingiva and oral mucosa
  • dry/squaly skin/exfoliation
  • irregular/in bands/reticular skin hyperpigmentation
  • acute abdominal pain/colic
  • constipation
  • chronic arterial hypertension
  • acute arterial hypertension/hypertensive crisis
  • lymphadenopathy/polyadenopathies
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • cortico-adrenal hyperplasia/hypersecretion
  • diabetes mellitus
  • facial pain/cephalalgia/migraine
  • anorexia
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • myopathy
  • adrenal neoplasm/tumor/carcinoma/cancer
  • pheochromocytoma/paraganglioma
  • asthenia/fatigue/weakness
  • hot flushes/sensation of cold
  • corneal dystrophy
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • pectus excavatum
  • kyphosis
  • lordosis
  • scoliosis
  • long hand/arachnodactyly
  • patella absent/abnormal (excluding luxation)
  • pes cavus
  • cutaneous rash
  • pruritus/itching
  • cafe-au-lait spot
  • xanthomas/lipomas
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • polyposis of the bowel/colon/intestine
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intestinal obstruction/ileus
  • cardiac rhythm disorder/arrhythmia
  • edema of the legs/lower limbs
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hyperparathyroidy
  • peripheral neuropathy
  • tremor
  • hypotonia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • obnubilation/coma/lethargia/desorientation
  • muscle weakness/flaccidity
  • bone pain
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • hyperextensible joints/articular hyperlaxity
  • hypercalcemia
  • digestive neoplasm/tumor/carcinoma/cancer
  • benign tumor of the brain/nervous system
  • tall stature/gigantism/growth acceleration
  • early death/lethality
  • marfanoid morphotype
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • dehydration/hydroelectrolytic loss
  • pallor
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • prominent occiput/occipital bossing
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • deepset eyes/enophthalmos
  • pointed chin
  • broad nose/nasal bridge
  • short neck
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • truncal obesity
  • genu valgum
  • atrial septal defect/interauricular communication
  • macropenis/megapenis/large penis
  • macroorchidism/macrotestes

HPO human phenotypes related to Multiple Endocrine Neoplasia Iia:

(show all 84)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 macrocephaly hallmark (90%) HP:0000256
3 dolichocephaly hallmark (90%) HP:0000268
4 prominent occiput hallmark (90%) HP:0000269
5 pointed chin hallmark (90%) HP:0000307
6 abnormality of the nose hallmark (90%) HP:0000366
7 short neck hallmark (90%) HP:0000470
8 deeply set eye hallmark (90%) HP:0000490
9 truncal obesity hallmark (90%) HP:0001956
10 frontal bossing hallmark (90%) HP:0002007
11 delayed skeletal maturation hallmark (90%) HP:0002750
12 cognitive impairment hallmark (90%) HP:0100543
13 diarrhea hallmark (90%) HP:0002014
14 neoplasm of the thyroid gland hallmark (90%) HP:0100031
15 enlarged penis typical (50%) HP:0000040
16 macroorchidism typical (50%) HP:0000053
17 defect in the atrial septum typical (50%) HP:0001631
18 genu valgum typical (50%) HP:0002857
19 thick lower lip vermilion typical (50%) HP:0000179
20 behavioral abnormality typical (50%) HP:0000708
21 diabetes mellitus typical (50%) HP:0000819
22 dry skin typical (50%) HP:0000958
23 hypercortisolism typical (50%) HP:0001578
24 constipation typical (50%) HP:0002019
25 abdominal pain typical (50%) HP:0002027
26 anorexia typical (50%) HP:0002039
27 migraine typical (50%) HP:0002076
28 lymphadenopathy typical (50%) HP:0002716
29 myopathy typical (50%) HP:0003198
30 irregular hyperpigmentation typical (50%) HP:0007400
31 impaired temperature sensation typical (50%) HP:0010829
32 abnormal renal physiology typical (50%) HP:0012211
33 neoplasm of the adrenal gland typical (50%) HP:0100631
34 neuroendocrine neoplasm typical (50%) HP:0100634
35 hypertensive crisis typical (50%) HP:0100735
36 cleft palate occasional (7.5%) HP:0000175
37 pectus excavatum occasional (7.5%) HP:0000767
38 nephrolithiasis occasional (7.5%) HP:0000787
39 hyperparathyroidism occasional (7.5%) HP:0000843
40 cafe-au-lait spot occasional (7.5%) HP:0000957
41 pallor occasional (7.5%) HP:0000980
42 skin rash occasional (7.5%) HP:0000988
43 pruritus occasional (7.5%) HP:0000989
44 multiple lipomas occasional (7.5%) HP:0001012
45 corneal dystrophy occasional (7.5%) HP:0001131
46 arachnodactyly occasional (7.5%) HP:0001166
47 muscular hypotonia occasional (7.5%) HP:0001252
48 muscle weakness occasional (7.5%) HP:0001324
49 tremor occasional (7.5%) HP:0001337
50 joint hypermobility occasional (7.5%) HP:0001382
51 disproportionate tall stature occasional (7.5%) HP:0001519
52 pes cavus occasional (7.5%) HP:0001761
53 weight loss occasional (7.5%) HP:0001824
54 dehydration occasional (7.5%) HP:0001944
55 nausea and vomiting occasional (7.5%) HP:0002017
56 aganglionic megacolon occasional (7.5%) HP:0002251
57 scoliosis occasional (7.5%) HP:0002650
58 bone pain occasional (7.5%) HP:0002653
59 kyphosis occasional (7.5%) HP:0002808
60 hypercalcemia occasional (7.5%) HP:0003072
61 slender long bone occasional (7.5%) HP:0003100
62 hyperlordosis occasional (7.5%) HP:0003307
63 paresthesia occasional (7.5%) HP:0003401
64 abnormality of temperature regulation occasional (7.5%) HP:0004370
65 reduced consciousness/confusion occasional (7.5%) HP:0004372
66 intestinal obstruction occasional (7.5%) HP:0005214
67 patellar aplasia occasional (7.5%) HP:0006443
68 edema of the lower limbs occasional (7.5%) HP:0010741
69 arrhythmia occasional (7.5%) HP:0011675
70 benign neoplasm of the central nervous system occasional (7.5%) HP:0100835
71 intestinal polyposis occasional (7.5%) HP:0200008
72 autosomal dominant inheritance HP:0000006
73 intellectual disability HP:0001249
74 megalencephaly HP:0001355
75 hypertension HP:0000822
76 hyperparathyroidism HP:0000843
77 abnormality of the integument HP:0001574
78 hypercortisolism HP:0001578
79 aganglionic megacolon HP:0002251
80 pheochromocytoma HP:0002666
81 medullary thyroid carcinoma HP:0002865
82 parathyroid adenoma HP:0002897
83 elevated calcitonin HP:0003528
84 elevated urinary epinephrine HP:0003639

Drugs & Therapeutics for Multiple Endocrine Neoplasia Iia

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Drug clinical trials:

Search ClinicalTrials for Multiple Endocrine Neoplasia Iia

Search NIH Clinical Center for Multiple Endocrine Neoplasia Iia

Genetic Tests for Multiple Endocrine Neoplasia Iia

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Genetic tests related to Multiple Endocrine Neoplasia Iia:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia Type 220 RET
2 Multiple Endocrine Neoplasia Type 2a20
3 Multiple Endocrine Neoplasia, Type 222
4 Multiple Endocrine Neoplasia, Type 2a22

Anatomical Context for Multiple Endocrine Neoplasia Iia

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MalaCards organs/tissues related to Multiple Endocrine Neoplasia Iia:

31
Thyroid, Brain, Colon, Tongue, Cortex, Spinal cord, Bone, Skin, Eye, Kidney, Adrenal gland

Animal Models for Multiple Endocrine Neoplasia Iia or affiliated genes

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Publications for Multiple Endocrine Neoplasia Iia

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Variations for Multiple Endocrine Neoplasia Iia

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia Iia:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1RETp.Cys609TyrVAR_006306rs77939446
2RETp.Cys611TrpVAR_006308rs80069458
3RETp.Cys611TyrVAR_006309
4RETp.Cys618GlyVAR_006310
5RETp.Cys618ArgVAR_006311rs76262710
6RETp.Cys618PheVAR_006312
7RETp.Cys618SerVAR_006313rs79781594
8RETp.Cys618TyrVAR_006314
9RETp.Cys620GlyVAR_006315
10RETp.Cys620ArgVAR_006316
11RETp.Cys620SerVAR_006317
12RETp.Cys620PheVAR_006318rs77503355
13RETp.Cys620TyrVAR_006319
14RETp.Cys630PheVAR_006320
15RETp.Cys634GlyVAR_006323
16RETp.Cys634PheVAR_006324
17RETp.Cys634TyrVAR_006325
18RETp.Cys634ArgVAR_006326
19RETp.Cys634SerVAR_006327
20RETp.Cys634TrpVAR_006328
21RETp.Cys609GlyVAR_009470
22RETp.Cys609ArgVAR_009471rs77558292
23RETp.Cys611ArgVAR_009473
24RETp.Cys611SerVAR_009474
25RETp.Cys620TrpVAR_009475
26RETp.Ala640GlyVAR_009480rs78935588
27RETp.Leu790PheVAR_009482rs75030001
28RETp.Tyr791PheVAR_009483rs77724903

Clinvar genetic disease variations for Multiple Endocrine Neoplasia Iia:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1SPINK1NM_003122.4(SPINK1): c.101A> G (p.Asn34Ser)single nucleotide variantPathogenic, risk factorrs17107315GRCh37Chr 5, 147207678: 147207678
2SPINK1SPINK1, -215G-Tsingle nucleotide variantPathogenic
3RETNM_020975.4(RET): c.1852T> G (p.Cys618Gly)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
4RETNM_020975.4(RET): c.1896G> C (p.Glu632Asp)single nucleotide variantPathogenicrs387906531GRCh37Chr 10, 43609944: 43609944
5RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
6RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
7RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
8RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
9RETNM_020975.4(RET): c.1833C> G (p.Cys611Trp)single nucleotide variantPathogenicrs80069458GRCh37Chr 10, 43609077: 43609077
10RETNM_020975.4(RET): c.1853G> C (p.Cys618Ser)single nucleotide variantPathogenicrs79781594GRCh37Chr 10, 43609097: 43609097
11RETNM_020975.4(RET): c.1858T> C (p.Cys620Arg)single nucleotide variantPathogenicrs77316810GRCh37Chr 10, 43609102: 43609102
12RETNM_020975.4(RET): c.1859G> A (p.Cys620Tyr)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
13RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
14RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
15RETNM_020975.4(RET): c.2753T> C (p.Met918Thr)single nucleotide variantPathogenicrs74799832GRCh37Chr 10, 43617416: 43617416
16RETNM_020975.4(RET): c.1859G> T (p.Cys620Phe)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
17RETNM_020975.4(RET): c.1852T> C (p.Cys618Arg)single nucleotide variantPathogenicrs76262710GRCh37Chr 10, 43609096: 43609096
18RETNM_020975.4(RET): c.2304G> C (p.Glu768Asp)single nucleotide variantPathogenicrs78014899GRCh37Chr 10, 43613840: 43613840
19RETNM_020975.4(RET): c.2370G> C (p.Leu790Phe)single nucleotide variantPathogenicrs75030001GRCh37Chr 10, 43613906: 43613906
20RETRET, 9-BP DUP, EX8duplicationPathogenic
21RETNM_020975.4(RET): c.1919C> G (p.Ala640Gly)single nucleotide variantPathogenicrs78935588GRCh37Chr 10, 43609967: 43609967
22RETNM_020975.4(RET): c.1859G> C (p.Cys620Ser)single nucleotide variantPathogenicrs77503355GRCh37Chr 10, 43609103: 43609103
23RETNM_020975.4(RET): c.1825T> C (p.Cys609Arg)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
24RETNM_020975.4(RET): c.2410G> A (p.Val804Met)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
25RETNM_020975.4(RET): c.2410G> T (p.Val804Leu)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
26RETNM_020975.4(RET): c.1597G> T (p.Gly533Cys)single nucleotide variantPathogenicrs75873440GRCh37Chr 10, 43607621: 43607621
27RETNM_020975.4(RET): c.2671T> G (p.Ser891Ala)single nucleotide variantPathogenicrs75234356GRCh37Chr 10, 43615592: 43615592
28RETNM_020975.4(RET): c.874G> A (p.Val292Met)single nucleotide variantPathogenicrs34682185GRCh37Chr 10, 43601830: 43601830
29RETNM_020975.4(RET): c.1585_1593dupGAGGAGTGT (p.Cys531_Gly532insGluGluCys)duplicationPathogenicrs377767434GRCh37Chr 10, 43607609: 43607617
30RETNM_020975.4(RET): c.1825T> G (p.Cys609Gly)single nucleotide variantPathogenicrs77558292GRCh37Chr 10, 43609069: 43609069
31RETNM_020975.4(RET): c.1891_1893delGAC (p.Asp631del)deletionPathogenicrs377767435GRCh37Chr 10, 43609939: 43609941
32RETNM_020975.4(RET): c.1891G> T (p.Asp631Tyr)single nucleotide variantPathogenicrs377767406GRCh37Chr 10, 43609939: 43609939
33RETNM_020975.4(RET): c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)duplicationPathogenicrs377767436GRCh37Chr 10, 43609940: 43609951
34RETNM_020975.4(RET): c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)duplicationPathogenicrs377767437GRCh37Chr 10, 43609948: 43609956
35RETNM_020975.4(RET): c.2711C> G (p.Ser904Cys)single nucleotide variantPathogenicrs267607011GRCh37Chr 10, 43615632: 43615632
36RETNM_020975.4(RET): c.2080C> T (p.Arg694Trp)single nucleotide variantLikely pathogenicrs193922700GRCh37Chr 10, 43610128: 43610128
37RETNM_020975.4(RET): c.2410G> A (p.Val804Met)single nucleotide variantPathogenicrs79658334GRCh37Chr 10, 43614996: 43614996
38RETNM_020975.4(RET): c.1826G> C (p.Cys609Ser)single nucleotide variantPathogenicrs77939446GRCh37Chr 10, 43609070: 43609070
39RETNM_020975.4(RET): c.1901_1902delGCinsTG (p.Cys634Leu)indelPathogenicrs377767409GRCh37Chr 10, 43609949: 43609950
40RETNM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe)indelPathogenicrs377767429GRCh37Chr 10, 43615568: 43615569

Cosmic variations for Multiple Endocrine Neoplasia Iia:

7 (show all 82)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
11237917RETthyroid,NS,carcinoma,medullary carcinoma3
287268RETthyroid,NS,carcinoma,medullary carcinoma3
326639RETthyroid,NS,carcinoma,medullary carcinoma3
41223553RETthyroid,NS,carcinoma,medullary carcinoma3
529803RETthyroid,NS,carcinoma,medullary carcinoma3
6986RETthyroid,NS,carcinoma,medullary carcinoma3
71666664RETthyroid,NS,carcinoma,medullary carcinoma3
829805RETthyroid,NS,carcinoma,medullary carcinoma3
9978RETthyroid,NS,carcinoma,medullary carcinoma3
10249790RETthyroid,NS,carcinoma,medullary carcinoma3
11970RETthyroid,NS,carcinoma,medullary carcinoma3
12961RETthyroid,NS,carcinoma,medullary carcinoma3
13960RETthyroid,NS,carcinoma,medullary carcinoma3
1420890RETthyroid,NS,carcinoma,medullary carcinoma3
15963RETthyroid,NS,carcinoma,medullary carcinoma3
16980RETthyroid,NS,carcinoma,medullary carcinoma3
17958RETthyroid,NS,carcinoma,medullary carcinoma3
183738532RETthyroid,NS,carcinoma,medullary carcinoma3
191237919RETthyroid,NS,carcinoma,medullary carcinoma3
2029806RETthyroid,NS,carcinoma,medullary carcinoma3
211237916RETthyroid,NS,carcinoma,medullary carcinoma3
22971RETthyroid,NS,carcinoma,medullary carcinoma3
23964RETthyroid,NS,carcinoma,medullary carcinoma3
2426387RETthyroid,NS,carcinoma,medullary carcinoma3
2529804RETthyroid,NS,carcinoma,medullary carcinoma3
2620889RETthyroid,NS,carcinoma,medullary carcinoma3
27966RETthyroid,NS,carcinoma,medullary carcinoma3
2826634RETthyroid,NS,carcinoma,medullary carcinoma3
2926388RETthyroid,NS,carcinoma,medullary carcinoma3
30965RETthyroid,NS,carcinoma,medullary carcinoma3
31133167RETthyroid,NS,carcinoma,medullary carcinoma3
3220888RETthyroid,NS,carcinoma,medullary carcinoma3
3387266RETthyroid,NS,carcinoma,medullary carcinoma3
34959RETthyroid,NS,carcinoma,medullary carcinoma3
35249791RETthyroid,NS,carcinoma,medullary carcinoma3
36975RETthyroid,NS,carcinoma,medullary carcinoma3
3726389RETthyroid,NS,carcinoma,medullary carcinoma3
38249789RETthyroid,NS,carcinoma,medullary carcinoma3
3926637RETthyroid,NS,carcinoma,medullary carcinoma3
40974RETthyroid,NS,carcinoma,medullary carcinoma3
4121338RETthyroid,NS,carcinoma,medullary carcinoma3
421237918RETthyroid,NS,carcinoma,medullary carcinoma3
43498HRASthyroid,NS,carcinoma,medullary carcinoma3
44481HRASthyroid,NS,carcinoma,medullary carcinoma3
451732634HRASthyroid,NS,carcinoma,medullary carcinoma3
46489HRASthyroid,NS,carcinoma,medullary carcinoma3
47482HRASthyroid,NS,carcinoma,medullary carcinoma3
48496HRASthyroid,NS,carcinoma,medullary carcinoma3
49304967HRASthyroid,NS,carcinoma,medullary carcinoma3
50949379HRASthyroid,NS,carcinoma,medullary carcinoma3
51499HRASthyroid,NS,carcinoma,medullary carcinoma3
523736923HRASthyroid,NS,carcinoma,medullary carcinoma3
53521966HRASthyroid,NS,carcinoma,medullary carcinoma3
54486HRASthyroid,NS,carcinoma,medullary carcinoma3
55552KRASthyroid,NS,carcinoma,medullary carcinoma3
56554KRASthyroid,NS,carcinoma,medullary carcinoma3
57553KRASthyroid,NS,carcinoma,medullary carcinoma3
58520KRASthyroid,NS,carcinoma,medullary carcinoma3
5927159KRASthyroid,NS,carcinoma,medullary carcinoma3
60549KRASthyroid,NS,carcinoma,medullary carcinoma3
6119900KRASthyroid,NS,carcinoma,medullary carcinoma3
62518KRASthyroid,NS,carcinoma,medullary carcinoma3
631237927SF3B1thyroid,NS,carcinoma,medullary carcinoma3
641237928SF3B1thyroid,NS,carcinoma,medullary carcinoma3
65583NRASthyroid,NS,carcinoma,medullary carcinoma3
66584NRASthyroid,NS,carcinoma,medullary carcinoma3
671237731CBFA2T3thyroid,NS,carcinoma,medullary carcinoma3
68192447CEP135thyroid,NS,carcinoma,medullary carcinoma3
691237754DISP2thyroid,NS,carcinoma,medullary carcinoma3
701237709ANKRD27thyroid,NS,carcinoma,medullary carcinoma3
71476BRAFthyroid,NS,carcinoma,medullary carcinoma3
721237714ATMthyroid,NS,carcinoma,medullary carcinoma3
731237785FGFR3thyroid,NS,carcinoma,medullary carcinoma3
741237711ARNTthyroid,NS,carcinoma,medullary carcinoma3
751237979ZFHX2thyroid,NS,carcinoma,medullary carcinoma3
761237906PTK6thyroid,NS,carcinoma,medullary carcinoma3
7714320VHLthyroid,NS,carcinoma,medullary carcinoma3
781237953TEX14thyroid,NS,carcinoma,medullary carcinoma3
791237888PIK3C2Athyroid,NS,carcinoma,medullary carcinoma3
801237837MEN1thyroid,NS,carcinoma,medullary carcinoma3
811237972VBP1thyroid,NS,carcinoma,medullary carcinoma3
821237986ZNF555thyroid,NS,carcinoma,medullary carcinoma3

Expression for genes affiliated with Multiple Endocrine Neoplasia Iia

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Search GEO for disease gene expression data for Multiple Endocrine Neoplasia Iia.

Pathways for genes affiliated with Multiple Endocrine Neoplasia Iia

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Compounds for genes affiliated with Multiple Endocrine Neoplasia Iia

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

Compounds related to Multiple Endocrine Neoplasia Iia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1trypsinogen439.0CTRC, SPINK1
2calcium43 49 24 1211.5CTRC, RET, SPINK1
3serine438.2CTRC, RET, SPINK1

GO Terms for genes affiliated with Multiple Endocrine Neoplasia Iia

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Products for genes affiliated with Multiple Endocrine Neoplasia Iia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Multiple Endocrine Neoplasia Iia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet