GIDID
MCID: GST093
MIFTS: 51

Gastrointestinal Defects and Immunodeficiency Syndrome (GIDID)

Categories: Blood diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Gastrointestinal Defects and Immunodeficiency Syndrome

MalaCards integrated aliases for Gastrointestinal Defects and Immunodeficiency Syndrome:

Name: Gastrointestinal Defects and Immunodeficiency Syndrome 57 12 72 36 39
Familial Intestinal Polyatresia Syndrome 57 12 73 20 58 72
Multiple Gastrointestinal Atresias 12 29 6 70
Intestinal Atresia, Multiple 57 72 13 44
Multiple Intestinal Atresia 12 58 15
Gidid 57 12 72
Intestinal Atresia, Multiple and/or Inflammatory Bowel Disease with or Without Immunodeficiency 57 72
Minat 57 72
Fipa 57 72
Familial Intestinal Polyatresia Syndrome; Fipa 57
Combined Immunodeficiency-Enteropathy Spectrum 58
Pituitary Adenoma, Familial Isolated 70
Intestinal Atresia, Multiple; Minat 57
Intestinal Atresia Multiple 20
Cid-Mia/early-Onset Ibd 58
Meddra:10028210 12
Mia 72

Characteristics:

Orphanet epidemiological data:

58
multiple intestinal atresia
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile;
combined immunodeficiency-enteropathy spectrum
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
fatal in first few months of life in most cases


HPO:

31
gastrointestinal defects and immunodeficiency syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Gastrointestinal Defects and Immunodeficiency Syndrome

OMIM® : 57 Gastrointestinal defects and immunodeficiency syndrome (GIDID) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). (243150) (Updated 20-May-2021)

MalaCards based summary : Gastrointestinal Defects and Immunodeficiency Syndrome, also known as familial intestinal polyatresia syndrome, is related to intestinal atresia and familial isolated pituitary adenoma. An important gene associated with Gastrointestinal Defects and Immunodeficiency Syndrome is TTC7A (Tetratricopeptide Repeat Domain 7A), and among its related pathways/superpathways are Toxoplasmosis and Interleukin-10 signaling. Affiliated tissues include pituitary, thymus and lung, and related phenotypes are intestinal atresia and duodenal stenosis

Disease Ontology : 12 An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has material basis in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2300 Definition Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

KEGG : 36 Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease.

UniProtKB/Swiss-Prot : 72 Gastrointestinal defects and immunodeficiency syndrome: A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype.

Wikipedia : 73 Familial multiple intestinal atresia (FMIA) or Familial intestinal polyatresia syndrome (FIPA) is an... more...

Related Diseases for Gastrointestinal Defects and Immunodeficiency Syndrome

Diseases related to Gastrointestinal Defects and Immunodeficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 156)
# Related Disease Score Top Affiliating Genes
1 intestinal atresia 30.1 TTC7A MTHFSD
2 familial isolated pituitary adenoma 11.6
3 melanoma 11.4
4 pituitary adenoma 1, multiple types 11.3
5 skin melanoma 11.1
6 acromegaly 11.0
7 melanoma, uveal 11.0
8 pituitary adenoma, prolactin-secreting 11.0
9 pancreatic cancer 10.7
10 adenoma 10.3
11 pituitary adenoma 10.3
12 atherosclerosis susceptibility 10.3
13 osteoarthritis 10.3
14 immune deficiency disease 10.2
15 combined immunodeficiency 10.2
16 short bowel syndrome 10.2
17 pituitary tumors 10.2
18 adenocarcinoma 10.2
19 pancreatic adenocarcinoma 10.2
20 end stage renal disease 10.2
21 duodenal obstruction 10.2
22 enamel erosion 10.2 TTC7A TTC37
23 carney complex variant 10.2
24 multiple endocrine neoplasia, type i 10.2
25 multiple endocrine neoplasia 10.2
26 enterocolitis 10.1
27 jejunal atresia 10.1
28 optic disc anomalies with retinal and/or macular dystrophy 10.1 TTC37 SKIV2L
29 skin carcinoma 10.1
30 pancreatic ductal adenocarcinoma 10.1
31 hormone producing pituitary cancer 10.1
32 gigantism 10.1
33 trichohepatoenteric syndrome 2 10.1 TTC37 SKIV2L
34 diarrhea 8, secretory sodium, congenital 10.1 STX3 MYO5B
35 gastroschisis 10.1
36 colonic atresia 10.1
37 intestinal obstruction 10.1
38 abdominal wall defect 10.1
39 anus, imperforate 10.0
40 inflammatory bowel disease 25, autosomal recessive 10.0 IL10RB IL10RA
41 diarrhea 10.0 TTC37 SKIV2L MYO5B
42 trichohepatoenteric syndrome 1 10.0 TTC7A TTC37 SKIV2L
43 acroleukopathy, symmetric 10.0
44 aip familial isolated pituitary adenomas 10.0
45 autism 10.0
46 autism spectrum disorder 10.0
47 squamous cell carcinoma 10.0
48 postpartum depression 10.0
49 glioma 10.0
50 glial tumor 10.0

Graphical network of the top 20 diseases related to Gastrointestinal Defects and Immunodeficiency Syndrome:



Diseases related to Gastrointestinal Defects and Immunodeficiency Syndrome

Symptoms & Phenotypes for Gastrointestinal Defects and Immunodeficiency Syndrome

Human phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011100
2 duodenal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100867
3 gastrointestinal atresia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002589
4 severe combined immunodeficiency 58 31 occasional (7.5%) Very frequent (99-80%) HP:0004430
5 ectopic calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0010766
6 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
7 polyhydramnios 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001561
8 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
9 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
10 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
11 bloody diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0025085
12 jejunoileal ulceration 58 31 frequent (33%) Frequent (79-30%) HP:0005229
13 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
14 ventricular septal defect 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001629
15 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
16 omphalocele 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001539
17 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
18 psoriasiform dermatitis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0003765
19 alopecia of scalp 58 31 occasional (7.5%) Occasional (29-5%) HP:0002293
20 autoimmune hemolytic anemia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001890
21 rectal abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0005224
22 peritoneal abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0100592
23 recurrent abscess formation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002722
24 abnormality of the ductus choledochus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100889
25 interface hepatitis 31 occasional (7.5%) HP:0032220
26 type i diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0100651
27 hepatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0012115
28 hashimoto thyroiditis 58 31 very rare (1%) Very rare (<4-1%) HP:0000872
29 nail dystrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0008404
30 congenital cystic adenomatoid malformation of the lung 58 31 very rare (1%) Very rare (<4-1%) HP:0010959
31 hypertelorism 31 very rare (1%) HP:0000316
32 prominent forehead 31 very rare (1%) HP:0011220
33 hypoplasia of dental enamel 31 very rare (1%) HP:0006297
34 immunodeficiency 58 Frequent (79-30%)
35 autoimmunity 58 Very rare (<4-1%)
36 hematochezia 31 HP:0002573
37 abnormal abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
intrauterine growth retardation

Abdomen Gastrointestinal:
bloody diarrhea
multiple areas of atresia along the small and large intestines
intestinal malrotation (in some patients)
intraluminal calcification on prenatal ultrasound or plain abdominal radiographs
bowel distention on prenatal ultrasound
more
Head And Neck Face:
prominent forehead (rare)

Head And Neck Teeth:
enamel dysplasia (rare)

Abdomen External Features:
omphalocele (rare)

Abdomen Biliary Tract:
common bile duct dilation (in some patients)

Skin Nails Hair Nails:
onychopathy (rare)

Endocrine Features:
autoimmune thyroiditis (rare)
diabetes, type 1 (rare)

Immunology:
igm immunodeficiency (in some patients)
immunodeficiency, severe combined (in some patients)
autoimmunity (rare)
thymus hypoplasia (in some patients)
isolated hypogammaglobulinemia (rare)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Cardiovascular Heart:
ventricular septal defect (rare)

Head And Neck Eyes:
hypertelorism (rare)

Respiratory Lung:
cystic adenomatoid malformation, congenital (rare)

Abdomen Liver:
autoimmune hepatitis (rare)
mild fibrosis (rare)
interface hepatitis (rare)

Skin Nails Hair Skin:
psoriasis (rare)

Skin Nails Hair Hair:
transient alopecia in early childhood (in some patients)

Hematology:
autoimmune hemolytic anemia (rare)

Clinical features from OMIM®:

243150 (Updated 20-May-2021)

Drugs & Therapeutics for Gastrointestinal Defects and Immunodeficiency Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188

Search NIH Clinical Center for Gastrointestinal Defects and Immunodeficiency Syndrome

Cochrane evidence based reviews: intestinal atresia, multiple

Genetic Tests for Gastrointestinal Defects and Immunodeficiency Syndrome

Genetic tests related to Gastrointestinal Defects and Immunodeficiency Syndrome:

# Genetic test Affiliating Genes
1 Multiple Gastrointestinal Atresias 29

Anatomical Context for Gastrointestinal Defects and Immunodeficiency Syndrome

MalaCards organs/tissues related to Gastrointestinal Defects and Immunodeficiency Syndrome:

40
Pituitary, Thymus, Lung, Skin, Liver, Cervix, Tongue

Publications for Gastrointestinal Defects and Immunodeficiency Syndrome

Articles related to Gastrointestinal Defects and Immunodeficiency Syndrome:

(show all 25)
# Title Authors PMID Year
1
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. 57 6
29174094 2018
2
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. 57 6
25174867 2014
3
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. 57 6
24417819 2014
4
TTC7A mutations disrupt intestinal epithelial apicobasal polarity. 57 6
24292712 2014
5
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. 57 6
23830146 2013
6
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. 57 6
23423984 2013
7
Familial intestinal polyatresia syndrome. 57 61
7554349 1995
8
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
9
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. 6
25534311 2015
10
The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life. 6
25587526 2014
11
Hereditary multiple intestinal atresia: thirty years later. 57
15137007 2004
12
Multiple gastrointestinal atresias: sonography of associated biliary abnormalities. 57
1891262 1991
13
Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. 57
2240032 1990
14
Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis. 57
2202215 1990
15
Prenatal ultrasonic diagnosis of multiple bowel atresias. 57
3548375 1987
16
Multiple gastrointestinal atresias in three consecutive siblings: observations on pathogenesis. 57
3973807 1985
17
Multiple congenital septal atresias of the intestine: histomorphologic and pathogenetic implications. 57
6687294 1983
18
Multiple hereditary gastrointestinal atresias: study of a family. 57
6637476 1983
19
[Familial atresia of the small intestine--genetics and genetic counseling]. 57
6634209 1983
20
Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. 57
7438502 1980
21
A syndrome of multiple gastrointestinal atresias with intraluminal calcification. A report of a case and a review of the literature. 57
514679 1979
22
Multiple gastrointestinal atresias, with intraluminal calcifications and cystic dilatation of bile ducts: a newly recognized entity resemblin "a string of pearls". 57
1250662 1976
23
Hereditary multiple intestinal atresia. 57
4470900 1974
24
Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum. 57
4752999 1973
25
Familial multiple-level intestinal atresias: report of two siblings. 57
5091250 1971

Variations for Gastrointestinal Defects and Immunodeficiency Syndrome

ClinVar genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:

6 (show top 50) (show all 295)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC7A NM_020458.4(TTC7A):c.1001+3_1001+6del Microsatellite Pathogenic 50608 rs587776971 GRCh37: 2:47221652-47221655
GRCh38: 2:46994513-46994516
2 TTC7A NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) SNV Pathogenic 50609 rs587776972 GRCh37: 2:47300953-47300953
GRCh38: 2:47073814-47073814
3 TTC7A NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) SNV Pathogenic 190388 rs139010200 GRCh37: 2:47273468-47273468
GRCh38: 2:47046329-47046329
4 TTC7A NM_020458.4(TTC7A):c.764+1del Deletion Pathogenic 190389 rs886037746 GRCh37: 2:47206047-47206047
GRCh38: 2:46978905-46978905
5 TTC7A NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) Deletion Pathogenic 190390 rs886037747 GRCh37: 2:47177630-47177633
GRCh38: 2:46950491-46950494
6 TTC7A NM_020458.4(TTC7A):c.844-1G>T SNV Pathogenic 190391 rs777469885 GRCh37: 2:47221495-47221495
GRCh38: 2:46994356-46994356
7 TTC7A NM_020458.4(TTC7A):c.1204-2A>G SNV Pathogenic 190392 rs876657392 GRCh37: 2:47233778-47233778
GRCh38: 2:47006639-47006639
8 TTC7A NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) SNV Pathogenic 190393 rs786205698 GRCh37: 2:47251433-47251433
GRCh38: 2:47024294-47024294
9 TTC7A NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr) SNV Pathogenic 190394 rs876657393 GRCh37: 2:47300979-47300979
GRCh38: 2:47073840-47073840
10 TTC7A NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) SNV Pathogenic 284147 rs886042805 GRCh37: 2:47177603-47177603
GRCh38: 2:46950464-46950464
11 TTC7A NM_020458.4(TTC7A):c.1183dup (p.Gln395fs) Duplication Pathogenic 284148 rs886042806 GRCh37: 2:47233177-47233178
GRCh38: 2:47006038-47006039
12 TTC7A NM_020458.4(TTC7A):c.2470dup (p.Gln824fs) Duplication Pathogenic 528461 rs768053395 GRCh37: 2:47300954-47300955
GRCh38: 2:47073815-47073816
13 TTC7A NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter) SNV Pathogenic 369683 rs1057516047 GRCh37: 2:47300955-47300955
GRCh38: 2:47073816-47073816
14 TTC7A NM_020458.4(TTC7A):c.1510+105T>A SNV Pathogenic 140581 rs587777551 GRCh37: 2:47249223-47249223
GRCh38: 2:47022084-47022084
15 TTC7A NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs) Insertion Pathogenic 140580 rs587777550 GRCh37: 2:47256394-47256395
GRCh38: 2:47029255-47029256
16 TTC7A NM_020458.4(TTC7A):c.1481del (p.Gly494fs) Deletion Pathogenic 140579 rs587777549 GRCh37: 2:47249087-47249087
GRCh38: 2:47021948-47021948
17 TTC7A NM_020458.4(TTC7A):c.1008C>G (p.Tyr336Ter) SNV Pathogenic 140578 rs587777548 GRCh37: 2:47222281-47222281
GRCh38: 2:46995142-46995142
18 TTC7A NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter) SNV Pathogenic 140577 rs587777547 GRCh37: 2:47220653-47220653
GRCh38: 2:46993514-46993514
19 TTC7A NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) SNV Pathogenic 440890 rs776906926 GRCh37: 2:47251473-47251473
GRCh38: 2:47024334-47024334
20 TTC7A NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter) SNV Pathogenic 578081 rs1558568116 GRCh37: 2:47233826-47233826
GRCh38: 2:47006687-47006687
21 TTC7A NM_020458.4(TTC7A):c.1039dup (p.Leu347fs) Duplication Pathogenic 659629 rs1572849873 GRCh37: 2:47222310-47222311
GRCh38: 2:46995171-46995172
22 TTC7A NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter) SNV Pathogenic 659060 rs1297794582 GRCh37: 2:47233067-47233067
GRCh38: 2:47005928-47005928
23 TTC7A NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter) SNV Pathogenic 640974 rs766411601 GRCh37: 2:47177597-47177597
GRCh38: 2:46950458-46950458
24 TTC7A NM_020458.4(TTC7A):c.765-2A>G SNV Pathogenic 998215 GRCh37: 2:47220587-47220587
GRCh38: 2:46993448-46993448
25 TTC7A NM_020458.4(TTC7A):c.1698_1699dup (p.His567fs) Duplication Pathogenic 1032841 GRCh37: 2:47256417-47256418
GRCh38: 2:47029278-47029279
26 TTC7A NM_020458.4(TTC7A):c.1018dup (p.Asp340fs) Duplication Pathogenic 949136 GRCh37: 2:47222289-47222290
GRCh38: 2:46995150-46995151
27 TTC7A NM_020458.4(TTC7A):c.1288-1G>T SNV Pathogenic 944710 GRCh37: 2:47238469-47238469
GRCh38: 2:47011330-47011330
28 TTC7A NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) SNV Pathogenic 944711 GRCh37: 2:47273520-47273520
GRCh38: 2:47046381-47046381
29 TTC7A NM_020458.4(TTC7A):c.518-914_588del Deletion Likely pathogenic 848991 GRCh37: 2:47201193-47202177
GRCh38: 2:46974054-46975038
30 TTC7A NM_020458.4(TTC7A):c.2384dup (p.Ser796fs) Duplication Likely pathogenic 853722 GRCh37: 2:47300867-47300868
GRCh38: 2:47073728-47073729
31 TTC7A NM_020458.4(TTC7A):c.764+5G>A SNV Likely pathogenic 931205 GRCh37: 2:47206051-47206051
GRCh38: 2:46978912-46978912
32 TTC7A NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) SNV Conflicting interpretations of pathogenicity 828027 rs755985958 GRCh37: 2:47300980-47300980
GRCh38: 2:47073841-47073841
33 TTC7A NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) SNV Conflicting interpretations of pathogenicity 626202 rs112301354 GRCh37: 2:47177506-47177506
GRCh38: 2:46950367-46950367
34 TTC7A NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) SNV Conflicting interpretations of pathogenicity 626203 rs151032299 GRCh37: 2:47300969-47300969
GRCh38: 2:47073830-47073830
35 TTC7A NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) SNV Conflicting interpretations of pathogenicity 642279 rs201100272 GRCh37: 2:47249041-47249041
GRCh38: 2:47021902-47021902
36 TTC7A NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) SNV Conflicting interpretations of pathogenicity 458800 rs61746139 GRCh37: 2:47184066-47184066
GRCh38: 2:46956927-46956927
37 TTC7A NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) SNV Conflicting interpretations of pathogenicity 528460 rs6755258 GRCh37: 2:47251490-47251490
GRCh38: 2:47024351-47024351
38 TTC7A NM_020458.4(TTC7A):c.692C>T (p.Pro231Leu) SNV Uncertain significance 849014 GRCh37: 2:47205974-47205974
GRCh38: 2:46978835-46978835
39 TTC7A NM_020458.4(TTC7A):c.1203+4C>T SNV Uncertain significance 849062 GRCh37: 2:47233202-47233202
GRCh38: 2:47006063-47006063
40 TTC7A NM_020458.4(TTC7A):c.2080A>G (p.Met694Val) SNV Uncertain significance 852155 GRCh37: 2:47278947-47278947
GRCh38: 2:47051808-47051808
41 TTC7A NM_020458.4(TTC7A):c.806G>A (p.Arg269Gln) SNV Uncertain significance 946617 GRCh37: 2:47220630-47220630
GRCh38: 2:46993491-46993491
42 TTC7A NM_020458.4(TTC7A):c.2189C>G (p.Ala730Gly) SNV Uncertain significance 946997 GRCh37: 2:47287944-47287944
GRCh38: 2:47060805-47060805
43 TTC7A NM_020458.4(TTC7A):c.562C>T (p.Arg188Cys) SNV Uncertain significance 947583 GRCh37: 2:47202156-47202156
GRCh38: 2:46975017-46975017
44 MCFD2 , TTC7A NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr) SNV Uncertain significance 947792 GRCh37: 2:47168834-47168834
GRCh38: 2:46941695-46941695
45 TTC7A NM_020458.4(TTC7A):c.1397A>G (p.Glu466Gly) SNV Uncertain significance 948792 GRCh37: 2:47249005-47249005
GRCh38: 2:47021866-47021866
46 TTC7A NM_020458.4(TTC7A):c.2000C>T (p.Ala667Val) SNV Uncertain significance 952168 GRCh37: 2:47277168-47277168
GRCh38: 2:47050029-47050029
47 TTC7A NM_020458.4(TTC7A):c.843+5T>C SNV Uncertain significance 952470 GRCh37: 2:47220672-47220672
GRCh38: 2:46993533-46993533
48 TTC7A NM_020458.4(TTC7A):c.1642-4A>G SNV Uncertain significance 953294 GRCh37: 2:47256359-47256359
GRCh38: 2:47029220-47029220
49 TTC7A NM_020458.4(TTC7A):c.1073G>T (p.Arg358Leu) SNV Uncertain significance 953441 GRCh37: 2:47233068-47233068
GRCh38: 2:47005929-47005929
50 TTC7A NM_020458.4(TTC7A):c.2408G>A (p.Arg803His) SNV Uncertain significance 953590 GRCh37: 2:47300893-47300893
GRCh38: 2:47073754-47073754

UniProtKB/Swiss-Prot genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 TTC7A p.Leu823Pro VAR_069636 rs587776972
2 TTC7A p.Glu71Lys VAR_075126 rs147914967
3 TTC7A p.Leu346Pro VAR_075129
4 TTC7A p.Leu399Pro VAR_075130
5 TTC7A p.Ser539Leu VAR_075132 rs776906926
6 TTC7A p.Ala551Asp VAR_075133
7 TTC7A p.Lys606Arg VAR_075134 rs139010200
8 TTC7A p.Ser672Pro VAR_075135 rs149602485
9 TTC7A p.Ala832Thr VAR_075139 rs876657393

Expression for Gastrointestinal Defects and Immunodeficiency Syndrome

Search GEO for disease gene expression data for Gastrointestinal Defects and Immunodeficiency Syndrome.

Pathways for Gastrointestinal Defects and Immunodeficiency Syndrome

Pathways related to Gastrointestinal Defects and Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.2 XIAP NCF2 IL10RB IL10RA
2 10.85 IL10RB IL10RA
3 10.5 IL10RB IL10RA

GO Terms for Gastrointestinal Defects and Immunodeficiency Syndrome

Cellular components related to Gastrointestinal Defects and Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 XIAP TTC7B TTC7A TTC37 SKIV2L PI4KA
2 Ski complex GO:0055087 8.62 TTC37 SKIV2L

Biological processes related to Gastrointestinal Defects and Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of JAK-STAT cascade GO:0046427 9.37 IL10RA IL10RB
2 protein localization to plasma membrane GO:0072659 9.33 EFR3B TTC7A TTC7B
3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 9.32 SKIV2L TTC37
4 RNA catabolic process GO:0006401 9.26 SKIV2L TTC37
5 cytokine-mediated signaling pathway GO:0019221 9.26 IL10RA IL10RB IL17REL STX3
6 phosphatidylinositol phosphorylation GO:0046854 8.92 EFR3B PI4KA TTC7A TTC7B

Molecular functions related to Gastrointestinal Defects and Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 8.96 IL10RA IL10RB
2 interleukin-10 receptor activity GO:0004920 8.62 IL10RB IL10RA

Sources for Gastrointestinal Defects and Immunodeficiency Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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