MCID: GST093
MIFTS: 40

Gastrointestinal Defects and Immunodeficiency Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases, Blood diseases, Gastrointestinal diseases, Immune 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 75 40
Familial Intestinal Polyatresia Syndrome 57 53 59 75
Multiple Gastrointestinal Atresias 12 29 6 73
Intestinal Atresia, Multiple 57 75 13 44
Multiple Intestinal Atresia 12 59 15
Intestinal Atresia, Multiple and/or Inflammatory Bowel Disease with or Without Immunodeficiency 57 75
Gidid 57 75
Minat 57 75
Fipa 57 75
Familial Intestinal Polyatresia Syndrome; Fipa 57
Combined Immunodeficiency-Enteropathy Spectrum 59
Pituitary Adenoma, Familial Isolated 73
Intestinal Atresia, Multiple; Minat 57
Intestinal Atresia Multiple 53
Cid-Mia/early-Onset Ibd 59
Mia 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
gastrointestinal defects and immunodeficiency syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Gastrointestinal Defects and Immunodeficiency Syndrome, also known as familial intestinal polyatresia syndrome, is related to combined immunodeficiency, x-linked and familial isolated pituitary adenoma. An important gene associated with Gastrointestinal Defects and Immunodeficiency Syndrome is TTC7A (Tetratricopeptide Repeat Domain 7A). Affiliated tissues include pituitary, skin and thyroid, and related phenotypes are type i diabetes mellitus and hepatitis

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2300Disease definitionMultiple 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.Visit the Orphanet disease page for more resources.

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 all 31)
# Related Disease Score Top Affiliating Genes
1 combined immunodeficiency, x-linked 28.6 CD19 TTC7A
2 familial isolated pituitary adenoma 11.9
3 melanoma 11.7
4 pituitary adenoma 1, multiple types 11.6
5 skin melanoma 11.2
6 chromosome xq26.3 duplication syndrome 10.9
7 pituitary adenoma, prolactin-secreting 10.9
8 pancreatitis 10.5
9 pancreatic cancer 10.5
10 pituitary adenoma 10.2
11 adenoma 10.2
12 vascular disease 10.0
13 intestinal atresia 9.9
14 cervical squamous cell carcinoma 9.9
15 esophagitis 9.9
16 squamous cell carcinoma 9.9
17 cervicitis 9.9
18 adenocarcinoma 9.9
19 peritonitis 9.9
20 acroleukopathy, symmetric 9.9
21 pituitary tumors 9.9
22 colorectal cancer 9.7
23 chondrosarcoma 9.7
24 lung cancer susceptibility 3 9.7
25 pancreas adenocarcinoma 9.7
26 severe combined immunodeficiency 9.7
27 cholera 9.7
28 postpartum depression 9.7
29 depression 9.7
30 hematologic cancer 9.1 CD19 TET2
31 leukemia, acute myeloid 8.9 CD19 TET2

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

Symptoms via clinical synopsis from OMIM:

57
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
Respiratory Lung:
cystic adenomatoid malformation, congenital (rare)

Abdomen Liver:
autoimmune 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)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Cardiovascular Heart:
ventricular septal defect (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)
thymus hypoplasia (in some patients)
autoimmunity (rare)


Clinical features from OMIM:

243150

Human phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 59 32 very rare (1%) Very rare (<4-1%) HP:0100651
2 hepatitis 59 32 very rare (1%) Very rare (<4-1%) HP:0012115
3 nail dystrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0008404
4 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
5 hashimoto thyroiditis 59 32 very rare (1%) Very rare (<4-1%) HP:0000872
6 hypoplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000778
7 polyhydramnios 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001561
8 ventricular septal defect 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001629
9 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
10 thickened skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001072
11 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
12 sparse hair 59 32 frequent (33%) Frequent (79-30%) HP:0008070
13 omphalocele 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001539
14 intestinal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011100
15 duodenal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100867
16 gastrointestinal atresia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002589
17 autoimmune hemolytic anemia 59 32 occasional (7.5%) Very rare (<4-1%) HP:0001890
18 absent eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002223
19 severe combined immunodeficiency 59 32 occasional (7.5%) Very frequent (99-80%) HP:0004430
20 alopecia of scalp 59 32 occasional (7.5%) Occasional (29-5%) HP:0002293
21 psoriasiform dermatitis 59 32 occasional (7.5%) Very rare (<4-1%) HP:0003765
22 ectopic calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0010766
23 peritoneal abscess 59 32 occasional (7.5%) Occasional (29-5%) HP:0100592
24 jejunoileal ulceration 59 32 frequent (33%) Frequent (79-30%) HP:0005229
25 bloody diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0025085
26 rectal abscess 59 32 occasional (7.5%) Occasional (29-5%) HP:0005224
27 abnormality of the ductus choledochus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100889
28 congenital cystic adenomatoid malformation of the lung 59 32 very rare (1%) Very rare (<4-1%) HP:0010959
29 immunodeficiency 59 Frequent (79-30%)
30 autoimmunity 59 Very rare (<4-1%)
31 abnormality of the skeletal system 32 HP:0000924
32 hematochezia 32 HP:0002573
33 recurrent abscess formation 59 Occasional (29-5%)
34 abnormality of abdomen morphology 32 HP:0001438

MGI Mouse Phenotypes related to Gastrointestinal Defects and Immunodeficiency Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.56 CD19 RHOA TET2 TTC7A
2 liver/biliary system MP:0005370 9.33 CD19 TET2 TTC7A
3 neoplasm MP:0002006 9.13 CD19 TET2 TTC7A
4 renal/urinary system MP:0005367 8.8 CD19 TET2 TTC7A

Drugs & Therapeutics for Gastrointestinal Defects and Immunodeficiency Syndrome

Search Clinical Trials , 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 TTC7A

Anatomical Context for Gastrointestinal Defects and Immunodeficiency Syndrome

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

41
Pituitary, Skin, Thyroid, Thymus, Lung

Publications for Gastrointestinal Defects and Immunodeficiency Syndrome

Articles related to Gastrointestinal Defects and Immunodeficiency Syndrome:

# Title Authors Year
1
Hereditary Multiple Gastrointestinal Atresia associated with Choledochal Cyst: A Rare Entity with Management Dilemma. ( 26023510 )
2014
2
Multiple gastrointestinal atresias with cystic dilatation of the biliary duct. ( 10786985 )
2000
3
Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis. ( 2202215 )
1990

Variations for Gastrointestinal Defects and Immunodeficiency Syndrome

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

75
# 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

ClinVar genetic disease variations for Gastrointestinal Defects and Immunodeficiency Syndrome:

6
(show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC7A NM_020458.3(TTC7A): c.1000_1001+2delAAGT deletion Pathogenic rs587776971 GRCh37 Chromosome 2, 47221652: 47221655
2 TTC7A NM_020458.3(TTC7A): c.1000_1001+2delAAGT deletion Pathogenic rs587776971 GRCh38 Chromosome 2, 46994513: 46994516
3 TTC7A NM_020458.3(TTC7A): c.2468T> C (p.Leu823Pro) single nucleotide variant Likely pathogenic rs587776972 GRCh37 Chromosome 2, 47300953: 47300953
4 TTC7A NM_020458.3(TTC7A): c.2468T> C (p.Leu823Pro) single nucleotide variant Likely pathogenic rs587776972 GRCh38 Chromosome 2, 47073814: 47073814
5 TTC7A NM_001288953.1(TTC7A): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs587777547 GRCh37 Chromosome 2, 47220653: 47220653
6 TTC7A NM_001288953.1(TTC7A): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs587777547 GRCh38 Chromosome 2, 46993514: 46993514
7 TTC7A NM_020458.3(TTC7A): c.1008C> G (p.Tyr336Ter) single nucleotide variant Pathogenic rs587777548 GRCh37 Chromosome 2, 47222281: 47222281
8 TTC7A NM_020458.3(TTC7A): c.1008C> G (p.Tyr336Ter) single nucleotide variant Pathogenic rs587777548 GRCh38 Chromosome 2, 46995142: 46995142
9 TTC7A NM_020458.3(TTC7A): c.1481delG (p.Gly494Valfs) deletion Pathogenic rs587777549 GRCh37 Chromosome 2, 47249089: 47249089
10 TTC7A NM_020458.3(TTC7A): c.1481delG (p.Gly494Valfs) deletion Pathogenic rs587777549 GRCh38 Chromosome 2, 47021950: 47021950
11 TTC7A NM_020458.3(TTC7A): c.1673_1674insG (p.Leu559Profs) insertion Pathogenic rs587777550 GRCh37 Chromosome 2, 47256394: 47256395
12 TTC7A NM_020458.3(TTC7A): c.1673_1674insG (p.Leu559Profs) insertion Pathogenic rs587777550 GRCh38 Chromosome 2, 47029255: 47029256
13 TTC7A NM_020458.3(TTC7A): c.1510+105T> A single nucleotide variant Pathogenic rs587777551 GRCh37 Chromosome 2, 47249223: 47249223
14 TTC7A NM_020458.3(TTC7A): c.1510+105T> A single nucleotide variant Pathogenic rs587777551 GRCh38 Chromosome 2, 47022084: 47022084
15 TTC7A NM_020458.3(TTC7A): c.1817A> G (p.Lys606Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139010200 GRCh38 Chromosome 2, 47046329: 47046329
16 TTC7A NM_020458.3(TTC7A): c.1817A> G (p.Lys606Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs139010200 GRCh37 Chromosome 2, 47273468: 47273468
17 TTC7A NM_020458.3(TTC7A): c.2014T> C (p.Ser672Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs149602485 GRCh37 Chromosome 2, 47277182: 47277182
18 TTC7A NM_020458.3(TTC7A): c.2014T> C (p.Ser672Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs149602485 GRCh38 Chromosome 2, 47050043: 47050043
19 TTC7A NM_001288953.1(TTC7A): c.662+1delG deletion Pathogenic rs886037746 GRCh37 Chromosome 2, 47206047: 47206047
20 TTC7A NM_001288953.1(TTC7A): c.662+1delG deletion Pathogenic rs886037746 GRCh38 Chromosome 2, 46978908: 46978908
21 TTC7A NM_001288953.1(TTC7A): c.213_216delTCTA (p.Tyr71Terfs) deletion Pathogenic rs886037747 GRCh37 Chromosome 2, 47177632: 47177635
22 TTC7A NM_001288953.1(TTC7A): c.213_216delTCTA (p.Tyr71Terfs) deletion Pathogenic rs886037747 GRCh38 Chromosome 2, 46950493: 46950496
23 TTC7A NM_020458.3(TTC7A): c.844-1G> T single nucleotide variant Pathogenic rs777469885 GRCh37 Chromosome 2, 47221495: 47221495
24 TTC7A NM_020458.3(TTC7A): c.844-1G> T single nucleotide variant Pathogenic rs777469885 GRCh38 Chromosome 2, 46994356: 46994356
25 TTC7A NM_001288953.1(TTC7A): c.1102-2A> G single nucleotide variant Pathogenic rs876657392 GRCh37 Chromosome 2, 47233778: 47233778
26 TTC7A NM_001288953.1(TTC7A): c.1102-2A> G single nucleotide variant Pathogenic rs876657392 GRCh38 Chromosome 2, 47006639: 47006639
27 TTC7A NM_001288953.1(TTC7A): c.1474C> T (p.Gln492Ter) single nucleotide variant Pathogenic rs786205698 GRCh37 Chromosome 2, 47251433: 47251433
28 TTC7A NM_001288953.1(TTC7A): c.1474C> T (p.Gln492Ter) single nucleotide variant Pathogenic rs786205698 GRCh38 Chromosome 2, 47024294: 47024294
29 TTC7A NM_001288953.1(TTC7A): c.2392G> A (p.Ala798Thr) single nucleotide variant Pathogenic rs876657393 GRCh37 Chromosome 2, 47300979: 47300979
30 TTC7A NM_001288953.1(TTC7A): c.2392G> A (p.Ala798Thr) single nucleotide variant Pathogenic rs876657393 GRCh38 Chromosome 2, 47073840: 47073840
31 TTC7A NM_001288953.1(TTC7A): c.109G> A (p.Glu37Lys) single nucleotide variant Pathogenic rs147914967 GRCh38 Chromosome 2, 46950389: 46950389
32 TTC7A NM_001288953.1(TTC7A): c.109G> A (p.Glu37Lys) single nucleotide variant Pathogenic rs147914967 GRCh37 Chromosome 2, 47177528: 47177528
33 TTC7A NM_020458.3(TTC7A): c.286G> T (p.Glu96Ter) single nucleotide variant Pathogenic rs886042805 GRCh37 Chromosome 2, 47177603: 47177603
34 TTC7A NM_020458.3(TTC7A): c.286G> T (p.Glu96Ter) single nucleotide variant Pathogenic rs886042805 GRCh38 Chromosome 2, 46950464: 46950464
35 TTC7A NM_020458.3(TTC7A): c.1183dupC (p.Gln395Profs) duplication Pathogenic rs886042806 GRCh37 Chromosome 2, 47233178: 47233178
36 TTC7A NM_020458.3(TTC7A): c.1183dupC (p.Gln395Profs) duplication Pathogenic rs886042806 GRCh38 Chromosome 2, 47006039: 47006039
37 TTC7A NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs1057516047 GRCh37 Chromosome 2, 47300955: 47300955
38 TTC7A NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs1057516047 GRCh38 Chromosome 2, 47073816: 47073816
39 TTC7A NM_020458.3(TTC7A): c.1129C> G (p.Gln377Glu) single nucleotide variant Benign/Likely benign rs117304542 GRCh37 Chromosome 2, 47233124: 47233124
40 TTC7A NM_020458.3(TTC7A): c.1129C> G (p.Gln377Glu) single nucleotide variant Benign/Likely benign rs117304542 GRCh38 Chromosome 2, 47005985: 47005985
41 TTC7A NM_020458.3(TTC7A): c.969C> G (p.Ala323=) single nucleotide variant Likely benign rs139339890 GRCh38 Chromosome 2, 46994482: 46994482
42 TTC7A NM_020458.3(TTC7A): c.969C> G (p.Ala323=) single nucleotide variant Likely benign rs139339890 GRCh37 Chromosome 2, 47221621: 47221621
43 TTC7A NM_020458.3(TTC7A): c.2214G> A (p.Ala738=) single nucleotide variant Likely benign rs369839639 GRCh37 Chromosome 2, 47287969: 47287969
44 TTC7A NM_020458.3(TTC7A): c.2214G> A (p.Ala738=) single nucleotide variant Likely benign rs369839639 GRCh38 Chromosome 2, 47060830: 47060830
45 TTC7A NM_020458.3(TTC7A): c.490C> T (p.Leu164=) single nucleotide variant Likely benign rs149634302 GRCh37 Chromosome 2, 47184119: 47184119
46 TTC7A NM_020458.3(TTC7A): c.490C> T (p.Leu164=) single nucleotide variant Likely benign rs149634302 GRCh38 Chromosome 2, 46956980: 46956980
47 TTC7A NM_020458.3(TTC7A): c.640T> C (p.Leu214=) single nucleotide variant Benign rs57585816 GRCh37 Chromosome 2, 47202234: 47202234
48 TTC7A NM_020458.3(TTC7A): c.640T> C (p.Leu214=) single nucleotide variant Benign rs57585816 GRCh38 Chromosome 2, 46975095: 46975095
49 TTC7A NM_020458.3(TTC7A): c.1026C> T (p.Ile342=) single nucleotide variant Benign rs151317740 GRCh38 Chromosome 2, 46995160: 46995160
50 TTC7A NM_020458.3(TTC7A): c.1026C> T (p.Ile342=) single nucleotide variant Benign rs151317740 GRCh37 Chromosome 2, 47222299: 47222299

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

GO Terms for Gastrointestinal Defects and Immunodeficiency Syndrome

Sources for Gastrointestinal Defects and Immunodeficiency Syndrome

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