DIAR2
MCID: DRR016
MIFTS: 54

Diarrhea 2, with Microvillus Atrophy (DIAR2)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diarrhea 2, with Microvillus Atrophy

MalaCards integrated aliases for Diarrhea 2, with Microvillus Atrophy:

Name: Diarrhea 2, with Microvillus Atrophy 57 72
Microvillus Inclusion Disease 57 12 73 20 43 58 72 13 54 44 15 70
Congenital Familial Protracted Diarrhea with Enterocyte Brush-Border Abnormalities 57 12 20 43 72
Intractable Diarrhea of Infancy 12 20 43 58 72
Congenital Microvillous Atrophy 20 43 58 29 6
Davidson Disease 57 12 20 43 72
Mvid 57 43 58 72
Microvillus Atrophy, Congenital 57 20
Congenital Microvillus Atrophy 12 58
Microvillous Inclusion Disease 43 58
Diar2 57 72
Congenital Familial Protracted Diarrhea 20
Microvillus Inclusion Disease; Mvid 57
Diarrhea with Microvillus Atrophy 2 40
Diarrhea 2 with Microvillus Atrophy 12
Microvillus Atrophy with Diarrhea 2 43
Familial Enteropathy, Microvillus 20
Familial Protracted Enteropathy 43
Microvillus Atrophy Congenital 72
Congenital Enteropathy 43
Microvillous Atrophy 43
Davidson's Disease 20
Diarrhea 2 40
Mvd 12
Idi 58

Characteristics:

Orphanet epidemiological data:

58
microvillus inclusion disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
intractable diarrhea of infancy
Age of onset: Childhood; Age of death: any age;

OMIM®:

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


HPO:

31
diarrhea 2, with microvillus atrophy:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0060775
OMIM® 57 251850
OMIM Phenotypic Series 57 PS214700
ICD10 32 P78.3
ICD10 via Orphanet 33 P78.3
UMLS via Orphanet 71 C0341306
MedGen 41 C0341306
UMLS 70 C0341306

Summaries for Diarrhea 2, with Microvillus Atrophy

MedlinePlus Genetics : 43 Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition).A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.

MalaCards based summary : Diarrhea 2, with Microvillus Atrophy, also known as microvillus inclusion disease, is related to diarrhea 5, with tufting enteropathy, congenital and diarrhea. An important gene associated with Diarrhea 2, with Microvillus Atrophy is MYO5B (Myosin VB), and among its related pathways/superpathways are RhoGDI Pathway and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include liver, small intestine and retina, and related phenotypes are global developmental delay and dehydration

Disease Ontology : 12 A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has material basis in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.

GARD : 20 Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop normally. Management is difficult and relies on total parenteral nutrition. The advent of intestinal transplantation has improved the outlook for these patients. Microvillus inclusion disease is inherited in an autosomal recessive manner.

OMIM® : 57 Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (251850) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Diarrhea 2, with microvillus atrophy: A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life.

Wikipedia : 73 Microvillus inclusion disease, also known as Davidson's disease, congenital microvillus atrophy and,... more...

Related Diseases for Diarrhea 2, with Microvillus Atrophy

Diseases related to Diarrhea 2, with Microvillus Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 diarrhea 5, with tufting enteropathy, congenital 32.0 TTC37 SLC9A3 SKIV2L MYO5B
2 diarrhea 31.3 TTC37 SLC9A3 SKIV2L MYO5B
3 trichohepatoenteric syndrome 1 30.3 TTC37 STXBP2 SKIV2L
4 osmotic diarrhea 30.0 STXBP2 STX3 SLC9A3
5 congenital diarrhea 29.7 TTC37 STXBP2 STX3 SLC9A3 SKIV2L RAB8A
6 diarrhea 11, malabsorptive, congenital 11.6
7 genetic intractable diarrhea of infancy 11.4
8 porokeratosis 7, multiple types 11.3
9 porokeratosis 11.2
10 dihydropyrimidinase deficiency 11.2
11 marburg hemorrhagic fever 11.1
12 congenital enteropathy involving intestinal mucosa development 11.0
13 linear porokeratosis 11.0
14 pelizaeus-merzbacher disease 10.9
15 3-methylglutaconic aciduria 10.9
16 scirrhous adenocarcinoma 10.9
17 punctate porokeratosis 10.9
18 secretory diarrhea 10.6
19 metabolic acidosis 10.5
20 trigeminal neuralgia 10.3
21 diarrhea 4, malabsorptive, congenital 10.2 TTC37 STX3 MYO5B
22 hemophagocytic lymphohistiocytosis, familial, 5 10.2 STXBP2 STX3
23 optic disc anomalies with retinal and/or macular dystrophy 10.2 TTC37 SKIV2L
24 autosomal recessive disease 10.2
25 myo5b-related progressive familial intrahepatic cholestasis 10.2
26 progressive familial intrahepatic cholestasis 10.2
27 familial intrahepatic cholestasis 10.2
28 fanconi renotubular syndrome 1 10.2 RAB8A MYO5B
29 diarrhea 8, secretory sodium, congenital 10.2 STX3 SLC9A3 RAB11A MYO5B
30 squamous cell carcinoma 10.2
31 laryngeal squamous cell carcinoma 10.2
32 gastrointestinal defects and immunodeficiency syndrome 10.1 TTC37 STX3 SKIV2L MYO5B
33 hemifacial spasm, familial 10.1
34 cervical cancer 10.1
35 hemifacial spasm 10.1
36 griscelli syndrome, type 2 10.1 STXBP2 MYO5A MLPH
37 trichohepatoenteric syndrome 2 10.1 TTC37 SKIV2L
38 piebald trait 10.1 STXBP2 MYO5A MLPH
39 celiac disease 1 10.1
40 enterocolitis 10.1
41 incontinentia pigmenti 10.1
42 norrie disease 10.1
43 retinitis pigmentosa-deafness syndrome 10.1
44 congenital chloride diarrhea 10.1
45 usher syndrome 10.1
46 exudative vitreoretinopathy 10.1
47 intestinal pseudo-obstruction 10.1
48 urinary tract infection 10.1
49 fanconi syndrome 10.1
50 acute cystitis 10.1

Graphical network of the top 20 diseases related to Diarrhea 2, with Microvillus Atrophy:



Diseases related to Diarrhea 2, with Microvillus Atrophy

Symptoms & Phenotypes for Diarrhea 2, with Microvillus Atrophy

Human phenotypes related to Diarrhea 2, with Microvillus Atrophy:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 dehydration 58 31 frequent (33%) Frequent (79-30%) HP:0001944
3 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
4 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
5 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
6 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
7 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
8 abnormal renal physiology 58 31 frequent (33%) Frequent (79-30%) HP:0012211
9 hypovolemia 58 31 frequent (33%) Frequent (79-30%) HP:0011106
10 villous atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011473
11 growth delay 31 HP:0001510
12 malnutrition 31 HP:0004395
13 protracted diarrhea 31 HP:0004385
14 abnormality of small intestinal villus morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G I:
dehydration
malnutrition
protracted diarrhea
enteropathy

Lab:
hypoplastic villus atrophy
surface enterocytes have intracytoplasmic inclusions composed of neatly arranged brush-border microvilli on em

Growth:
growth delay
infantile death often

Clinical features from OMIM®:

251850 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Diarrhea 2, with Microvillus Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 EGF MYO1A MYO5B RAB11A RAB8A RAB8B

Drugs & Therapeutics for Diarrhea 2, with Microvillus Atrophy

Search Clinical Trials , NIH Clinical Center for Diarrhea 2, with Microvillus Atrophy

Cochrane evidence based reviews: microvillus inclusion disease

Genetic Tests for Diarrhea 2, with Microvillus Atrophy

Genetic tests related to Diarrhea 2, with Microvillus Atrophy:

# Genetic test Affiliating Genes
1 Congenital Microvillous Atrophy 29 MYO5B

Anatomical Context for Diarrhea 2, with Microvillus Atrophy

MalaCards organs/tissues related to Diarrhea 2, with Microvillus Atrophy:

40
Liver, Small Intestine, Retina, Endothelial

Publications for Diarrhea 2, with Microvillus Atrophy

Articles related to Diarrhea 2, with Microvillus Atrophy:

(show top 50) (show all 132)
# Title Authors PMID Year
1
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations. 61 57 6
24014347 2013
2
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 57 6 61
18724368 2008
3
Navajo microvillous inclusion disease is due to a mutation in MYO5B. 6 57
19006234 2008
4
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update. 61 6
29266534 2018
5
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. 61 6
20186687 2010
6
The Rab8 GTPase regulates apical protein localization in intestinal cells. 61 57
17597763 2007
7
Gastrointestinal microvillus inclusion disease. 57 61
1319670 1992
8
Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation. 57 61
2537465 1989
9
Microvillous atrophy: atypical presentations. 6
25111220 2014
10
A cluster of microvillous inclusion disease in the Navajo population. 57
9880458 1999
11
Hypophosphatemic rickets accompanying congenital microvillous atrophy. 57
9844114 1998
12
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? 57
9323563 1997
13
Congenital intractable diarrhea of infancy in Iraqi Jews. 57
9111996 1997
14
Alterations in epithelial polarity and the pathogenesis of disease states. 57
8177249 1994
15
Familial microvillous atrophy: a clinicopathological survey of 23 cases. 57
1355534 1992
16
Disorders of the cytoskeleton of the enterocyte. 57
3955857 1986
17
Congenital microvillous atrophy: specific diagnostic features. 57
3977385 1985
18
Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. 57
100367 1978
19
Intractable diarrhea in early infancy. 57
5643979 1968
20
SNAREs and developmental disorders. 61
32959907 2021
21
Correspondence: Microvillus Inclusion Disease with Novel MYO5B Pathogenic Variants. 61
33544913 2021
22
Recruitment of Polarity Complexes and Tight Junction Proteins to the Site of Apical Bulk Endocytosis. 61
33548596 2021
23
MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis. 61
32459745 2021
24
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. 61
33525641 2021
25
Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease. 61
33374831 2020
26
[Congenital microvillus inclusion disease in a child]. 61
33120470 2020
27
The Rab11 effectors Fip5 and Fip1 regulate zebrafish intestinal development. 61
32973079 2020
28
Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease. 61
32534933 2020
29
Challenges of Microvillus Inclusion Disease in the NICU. 61
32873653 2020
30
Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters. 61
32112796 2020
31
The challenge of personalized cell biology: The example of microvillus inclusion disease. 61
31596022 2020
32
Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects. 61
31664880 2019
33
Loss of myosin Vb promotes apical bulk endocytosis in neonatal enterocytes. 61
31562230 2019
34
Congenital diarrhea in a newborn infant: A case report. 61
31559144 2019
35
A V0-ATPase-dependent apical trafficking pathway maintains the polarity of the intestinal absorptive membrane. 61
31110027 2019
36
Microvillus inclusion disease, a diagnosis to consider when abnormal stools and neurological impairments run together due to a rare syntaxin 3 gene mutation. 61
30909251 2019
37
Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease. 61
31824659 2019
38
Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes. 61
30144427 2018
39
Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells. 61
29880488 2018
40
Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease. 61
29590640 2018
41
Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease. 61
29218485 2018
42
Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids. 61
30364784 2018
43
Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report. 61
30364420 2018
44
The Endosomal Protein Endotubin Is Required for Enterocyte Differentiation. 61
29322087 2018
45
Trafficking Ion Transporters to the Apical Membrane of Polarized Intestinal Enterocytes. 61
28264818 2018
46
Congenital Fatal Diarrhea in Newborns. 61
28842815 2017
47
Kinetic signatures of myosin-5B, the motor involved in microvillus inclusion disease. 61
28882893 2017
48
[Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease]. 61
28899465 2017
49
Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea. 61
29282386 2017
50
Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease. 61
28407399 2017

Variations for Diarrhea 2, with Microvillus Atrophy

ClinVar genetic disease variations for Diarrhea 2, with Microvillus Atrophy:

6 (show top 50) (show all 338)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO5B MYO5B, 9-BP INS, NT1362 Insertion Pathogenic 4247 GRCh37:
GRCh38:
2 MYO5B NM_001080467.3(MYO5B):c.1323-2A>G SNV Pathogenic 4248 rs1568049625 GRCh37: 18:47489402-47489402
GRCh38: 18:49963032-49963032
3 MYO5B NM_001080467.3(MYO5B):c.323T>G (p.Val108Gly) SNV Pathogenic 4249 rs121908103 GRCh37: 18:47563352-47563352
GRCh38: 18:50036982-50036982
4 MYO5B NM_001080467.3(MYO5B):c.1125G>A (p.Trp375Ter) SNV Pathogenic 4250 rs121908104 GRCh37: 18:47500917-47500917
GRCh38: 18:49974547-49974547
5 MYO5B NM_001080467.3(MYO5B):c.1966C>T (p.Arg656Cys) SNV Pathogenic 4251 rs121908105 GRCh37: 18:47462659-47462659
GRCh38: 18:49936289-49936289
6 MYO5B NM_001080467.3(MYO5B):c.1979C>T (p.Pro660Leu) SNV Pathogenic 4252 rs121908106 GRCh37: 18:47462646-47462646
GRCh38: 18:49936276-49936276
7 MYO5B NM_001080467.3(MYO5B):c.2003+2T>A SNV Pathogenic 180212 rs727505394 GRCh37: 18:47462620-47462620
GRCh38: 18:49936250-49936250
8 MYO5B NM_001080467.3(MYO5B):c.656G>A (p.Arg219His) SNV Pathogenic 803491 rs1053713532 GRCh37: 18:47518758-47518758
GRCh38: 18:49992388-49992388
9 MYO5B NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter) SNV Pathogenic 1031041 GRCh37: 18:47429134-47429134
GRCh38: 18:49902764-49902764
10 MYO5B NM_001080467.3(MYO5B):c.4036C>T (p.Gln1346Ter) SNV Pathogenic 1031042 GRCh37: 18:47380004-47380004
GRCh38: 18:49853634-49853634
11 MYO5B NM_001080467.3(MYO5B):c.1387C>T (p.Gln463Ter) SNV Pathogenic 1031793 GRCh37: 18:47489336-47489336
GRCh38: 18:49962966-49962966
12 MYO5B NM_001080467.3(MYO5B):c.1546-2A>C SNV Pathogenic 1031794 GRCh37: 18:47480807-47480807
GRCh38: 18:49954437-49954437
13 MYO5B NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) Deletion Likely pathogenic 666977 rs1298330895 GRCh37: 18:47489376-47489376
GRCh38: 18:49963006-49963006
14 MYO5B NM_001080467.3(MYO5B):c.1303G>A (p.Gly435Arg) SNV Likely pathogenic 986346 GRCh37: 18:47500739-47500739
GRCh38: 18:49974369-49974369
15 MYO5B NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val) SNV Likely pathogenic 986347 GRCh37: 18:47506923-47506923
GRCh38: 18:49980553-49980553
16 MYO5B NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter) SNV Likely pathogenic 993014 GRCh37: 18:47463691-47463691
GRCh38: 18:49937321-49937321
17 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) SNV Likely pathogenic 620180 rs762039116 GRCh37: 18:47365601-47365601
GRCh38: 18:49839231-49839231
18 MYO5B NM_001080467.3(MYO5B):c.3277-2A>G SNV Likely pathogenic 973894 GRCh37: 18:47404254-47404254
GRCh38: 18:49877884-49877884
19 MYO5B NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr) SNV Likely pathogenic 803492 rs1166138315 GRCh37: 18:47518797-47518797
GRCh38: 18:49992427-49992427
20 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs) Deletion Likely pathogenic 488385 rs1555793199 GRCh37: 18:47364120-47364120
GRCh38: 18:49837750-49837750
21 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.5313+1G>C SNV Likely pathogenic 488386 rs1555793103 GRCh37: 18:47363080-47363080
GRCh38: 18:49836710-49836710
22 MYO5B NM_001080467.3(MYO5B):c.3276+5G>A SNV Likely pathogenic 180213 rs727505395 GRCh37: 18:47405310-47405310
GRCh38: 18:49878940-49878940
23 MYO5B NM_001080467.3(MYO5B):c.3917C>T (p.Ala1306Val) SNV Uncertain significance 327021 rs886053876 GRCh37: 18:47389624-47389624
GRCh38: 18:49863254-49863254
24 MYO5B NM_001080467.3(MYO5B):c.744A>G (p.Arg248=) SNV Uncertain significance 327081 rs368506553 GRCh37: 18:47518670-47518670
GRCh38: 18:49992300-49992300
25 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*1896C>A SNV Uncertain significance 326961 rs79745077 GRCh37: 18:47350945-47350945
GRCh38: 18:49824575-49824575
26 MYO5B NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr) SNV Uncertain significance 327041 rs372432070 GRCh37: 18:47429185-47429185
GRCh38: 18:49902815-49902815
27 MYO5B NM_001080467.3(MYO5B):c.1952C>G (p.Thr651Arg) SNV Uncertain significance 327061 rs886053882 GRCh37: 18:47462673-47462673
GRCh38: 18:49936303-49936303
28 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*866C>A SNV Uncertain significance 326981 rs886053867 GRCh37: 18:47351975-47351975
GRCh38: 18:49825605-49825605
29 MYO5B NM_001080467.3(MYO5B):c.3945-9T>A SNV Uncertain significance 327018 rs759789311 GRCh37: 18:47383269-47383269
GRCh38: 18:49856899-49856899
30 MYO5B NM_001080467.3(MYO5B):c.471G>A (p.Gln157=) SNV Uncertain significance 327084 rs370574448 GRCh37: 18:47527766-47527766
GRCh38: 18:50001396-50001396
31 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*1967C>T SNV Uncertain significance 326958 rs192996713 GRCh37: 18:47350874-47350874
GRCh38: 18:49824504-49824504
32 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*3161A>C SNV Uncertain significance 326927 rs886053854 GRCh37: 18:47349680-47349680
GRCh38: 18:49823310-49823310
33 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.4702-9C>T SNV Uncertain significance 327007 rs147405294 GRCh37: 18:47365673-47365673
GRCh38: 18:49839303-49839303
34 MYO5B NM_001080467.3(MYO5B):c.3698G>T (p.Ser1233Ile) SNV Uncertain significance 327024 rs189721715 GRCh37: 18:47390656-47390656
GRCh38: 18:49864286-49864286
35 MYO5B NM_001080467.3(MYO5B):c.20A>G (p.Tyr7Cys) SNV Uncertain significance 327093 rs190674457 GRCh37: 18:47721144-47721144
GRCh38: 18:50194774-50194774
36 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*2259G>A SNV Uncertain significance 326947 rs886053857 GRCh37: 18:47350582-47350582
GRCh38: 18:49824212-49824212
37 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*2960T>C SNV Uncertain significance 326935 rs76811062 GRCh37: 18:47349881-47349881
GRCh38: 18:49823511-49823511
38 MYO5B NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) SNV Uncertain significance 327073 rs753558336 GRCh37: 18:47511088-47511088
GRCh38: 18:49984718-49984718
39 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*666G>A SNV Uncertain significance 326984 rs117918775 GRCh37: 18:47352175-47352175
GRCh38: 18:49825805-49825805
40 MYO5B NM_001080467.3(MYO5B):c.2231C>T (p.Thr744Ile) SNV Uncertain significance 327047 rs886053880 GRCh37: 18:47432972-47432972
GRCh38: 18:49906602-49906602
41 MYO5B NM_001080467.3(MYO5B):c.2203-13C>T SNV Uncertain significance 327050 rs550696496 GRCh37: 18:47433013-47433013
GRCh38: 18:49906643-49906643
42 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*2672C>T SNV Uncertain significance 326941 rs375423515 GRCh37: 18:47350169-47350169
GRCh38: 18:49823799-49823799
43 MYO5B NM_001080467.3(MYO5B):c.1287G>A (p.Lys429=) SNV Uncertain significance 327067 rs776027486 GRCh37: 18:47500755-47500755
GRCh38: 18:49974385-49974385
44 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.4853-15G>C SNV Uncertain significance 327004 rs886053874 GRCh37: 18:47364187-47364187
GRCh38: 18:49837817-49837817
45 MYO5B NM_001080467.3(MYO5B):c.-176G>T SNV Uncertain significance 327096 rs886053883 GRCh37: 18:47721339-47721339
GRCh38: 18:50194969-50194969
46 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*3102C>A SNV Uncertain significance 326930 rs113215300 GRCh37: 18:47349739-47349739
GRCh38: 18:49823369-49823369
47 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*1039T>A SNV Uncertain significance 326976 rs886053866 GRCh37: 18:47351802-47351802
GRCh38: 18:49825432-49825432
48 MYO5B NM_001080467.3(MYO5B):c.807C>T (p.Ala269=) SNV Uncertain significance 327079 rs370357903 GRCh37: 18:47516840-47516840
GRCh38: 18:49990470-49990470
49 MYO5B NM_001080467.3(MYO5B):c.2647C>T (p.Leu883=) SNV Uncertain significance 327039 rs375746475 GRCh37: 18:47429128-47429128
GRCh38: 18:49902758-49902758
50 MYO5B , SNHG22 NM_001080467.3(MYO5B):c.*1965C>T SNV Uncertain significance 326959 rs78555149 GRCh37: 18:47350876-47350876
GRCh38: 18:49824506-49824506

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 2, with Microvillus Atrophy:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 MYO5B p.Val108Gly VAR_054993 rs121908103
2 MYO5B p.Arg219His VAR_054994 rs105371353
3 MYO5B p.Arg656Cys VAR_054995 rs121908105
4 MYO5B p.Ala143Glu VAR_071649
5 MYO5B p.Gly168Arg VAR_071650 rs132490735
6 MYO5B p.Gly316Arg VAR_071651 rs753558336
7 MYO5B p.Arg401His VAR_071652 rs155564841
8 MYO5B p.Gly435Arg VAR_071653 rs128362229
9 MYO5B p.Asn456Ser VAR_071654
10 MYO5B p.Cys514Arg VAR_071655
11 MYO5B p.Pro660Leu VAR_071656 rs121908106
12 MYO5B p.Leu1556Arg VAR_071657
13 MYO5B p.Phe538Ser VAR_072814
14 MYO5B p.Ile550Phe VAR_072815

Expression for Diarrhea 2, with Microvillus Atrophy

Search GEO for disease gene expression data for Diarrhea 2, with Microvillus Atrophy.

Pathways for Diarrhea 2, with Microvillus Atrophy

Pathways related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 MYO5C MYO5A MYO1A EGF
2
Show member pathways
11.96 STX3 RAB8B RAB8A RAB11A MYO5C MYO5A
3 11.25 RAB8B RAB8A RAB11A
4 11.12 RAB8A RAB11A MYO5A
5 10.8 RAB8B RAB8A RAB11A

GO Terms for Diarrhea 2, with Microvillus Atrophy

Cellular components related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.9 STXBP2 STX3 SLC9A3 RAB8B RAB8A RAB11A
2 synaptic vesicle GO:0008021 9.7 STX3 RAB8B RAB8A
3 recycling endosome GO:0055037 9.69 RAB11A MYO5B MYO5A
4 actin cytoskeleton GO:0015629 9.65 MYO7B MYO5C MYO5B MYO5A MYO1A
5 recycling endosome membrane GO:0055038 9.63 RAB8B RAB8A RAB11A
6 phagocytic vesicle GO:0045335 9.58 RAB8B RAB8A RAB11A
7 brush border GO:0005903 9.54 SLC9A3 MYO7B MYO1A
8 trans-Golgi network transport vesicle GO:0030140 9.49 RAB8B RAB8A
9 specific granule GO:0042581 9.48 STXBP2 STX3
10 azurophil granule GO:0042582 9.43 STXBP2 STX3
11 vesicle GO:0031982 9.43 RAB11A MYO7B MYO5C MYO5B MYO5A MYO1A
12 Ski complex GO:0055087 9.32 TTC37 SKIV2L
13 myosin complex GO:0016459 9.02 MYO7B MYO5C MYO5B MYO5A MYO1A

Biological processes related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.84 TBC1D30 STXBP2 STX3 MLPH
2 protein transport GO:0015031 9.8 STXBP2 RAB8B RAB8A RAB11A MYO5B MYO5A
3 vesicle-mediated transport GO:0016192 9.77 STXBP2 STX3 RAB11A MYO5B MYO5A
4 protein localization to plasma membrane GO:0072659 9.76 RAB8B RAB8A RAB11A MYO5A
5 exocytosis GO:0006887 9.72 STXBP2 STX3 RAB11A
6 cellular response to insulin stimulus GO:0032869 9.69 RAB8B RAB8A MYO5A
7 vesicle docking involved in exocytosis GO:0006904 9.58 STXBP2 RAB8B RAB8A
8 RNA catabolic process GO:0006401 9.56 TTC37 SKIV2L
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.52 RAB8A RAB11A
10 melanosome transport GO:0032402 9.5 RAB11A MYO5A MLPH
11 neurotransmitter receptor transport, endosome to postsynaptic membrane GO:0098887 9.49 RAB8A RAB11A
12 regulation of protein transport GO:0051223 9.48 RAB8A RAB11A
13 Golgi vesicle fusion to target membrane GO:0048210 9.43 RAB8B RAB8A
14 actin filament organization GO:0007015 9.35 MYO7B MYO5C MYO5B MYO5A MYO1A
15 vesicle-mediated transport in synapse GO:0099003 9.33 STX3 RAB8A RAB11A
16 vesicle transport along actin filament GO:0030050 9.02 MYO7B MYO5C MYO5B MYO5A MYO1A

Molecular functions related to Diarrhea 2, with Microvillus Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.06 SKIV2L RAB8B RAB8A RAB11A MYO7B MYO5C
2 small GTPase binding GO:0031267 9.77 TBC1D30 RAB8A MYO5B MYO5A MLPH
3 calmodulin binding GO:0005516 9.73 MYO5C MYO5B MYO5A MYO1A
4 actin binding GO:0003779 9.73 MYO7B MYO5C MYO5B MYO5A MYO1A MLPH
5 actin filament binding GO:0051015 9.72 MYO7B MYO5C MYO5B MYO5A MYO1A
6 motor activity GO:0003774 9.55 MYO7B MYO5C MYO5B MYO5A MYO1A
7 myosin V binding GO:0031489 9.46 RAB8A RAB11A
8 microfilament motor activity GO:0000146 9.35 MYO7B MYO5C MYO5B MYO5A MYO1A
9 actin-dependent ATPase activity GO:0030898 9.02 MYO7B MYO5C MYO5B MYO5A MYO1A

Sources for Diarrhea 2, with Microvillus Atrophy

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
Content
Loading form....