AI1G
MCID: AML044
MIFTS: 55

Amelogenesis Imperfecta, Type Ig (AI1G)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Amelogenesis Imperfecta, Type Ig

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ig:

Name: Amelogenesis Imperfecta, Type Ig 57 38
Amelogenesis Imperfecta Type 1g 11 28 5 14
Enamel-Renal Syndrome 57 11 58 73
Ers 57 11 73 14
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome 57 11 73
Enamel-Renal-Gingival Syndrome 57 11 73
Aigfs 57 11 73
Ai1g 57 11 73
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis 57
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis 11
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis 73
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome 58
Amelogenesis Imperfecta Nephrocalcinosis 71
Amelogenesis Imperfecta Type Ig 11
Amelogenesis Imperfecta 1g 73

Characteristics:


Inheritance:

Amelogenesis Imperfecta, Type Ig: Autosomal recessive 57
Enamel-Renal Syndrome: Autosomal recessive 58

Prevelance:

Enamel-Renal Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Enamel-Renal Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable age of onset of renal manifestations


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 11 DOID:0110066
OMIM® 57 204690
OMIM Phenotypic Series 57 PS104500
ICD10 31 K00.5
MESH via Orphanet 44 C538241
ICD10 via Orphanet 32 K00.5
UMLS via Orphanet 72 C0403549 C2931783
Orphanet 58 ORPHA1031
MedGen 40 C2931783
UMLS 71 C2931783

Summaries for Amelogenesis Imperfecta, Type Ig

Orphanet: 58 A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.

MalaCards based summary: Amelogenesis Imperfecta, Type Ig, also known as amelogenesis imperfecta type 1g, is related to amelogenesis imperfecta hypoplastic type, ig and connective tissue disease, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta, Type Ig is FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase), and among its related pathways/superpathways are Gene expression (Transcription) and GPCR Pathway. Affiliated tissues include kidney, heart and bone, and related phenotypes are gingival overgrowth and nephropathy

OMIM®: 57 Amelogenesis imperfecta type IG, also known as enamel-renal syndrome, is characterized by hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis. Blood chemistry analyses are typically normal, and nephrocalcinosis, which is found on renal ultrasound, may not appear until later in life (summary by Wang et al., 2013). (204690) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.

Disease Ontology: 11 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

Related Diseases for Amelogenesis Imperfecta, Type Ig

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ij
Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta, Type Ik Amelogenesis Imperfecta Type 2a1

Diseases related to Amelogenesis Imperfecta, Type Ig via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 433)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta hypoplastic type, ig 31.1 PRKAR1A FAM20A
2 connective tissue disease 30.3 LCOR H2AC18 FOS ESR1 ERBB2 AKT1
3 testicular cancer 30.2 H2AC18 GNRH1 ESR1 AR AKT1
4 amelogenesis imperfecta 30.2 PGR PELP1 NCOA3 MIER1 LCOR H2AC18
5 breast disease 30.2 PGR H2AC18 ESR2 ESR1 ERBB2 CYP19A1
6 lymphangioleiomyomatosis 30.2 PGR GNRH1 ESR1
7 estrogen-receptor positive breast cancer 30.1 PGR H2AC18 ESR2 ESR1 ERBB2 CYP19A1
8 leukemia, acute myeloid 30.1 LCOR H2AC18 FOS ESR1 ERBB2 AR
9 seminoma 30.1 GPER1 ESR2 ESR1
10 ovarian cancer 29.8 PGR NCOA3 H2AC18 GPER1 GNRH1 FOS
11 endometrial cancer 29.8 PGR NCOA3 H2AC18 GPER1 GNRH1 FOS
12 breast cancer 29.7 PGR PELP1 NCOA3 H2AC18 GPER1 GNRH1
13 adenocarcinoma 10.7
14 lung cancer susceptibility 3 10.7
15 rectum carcinoma in situ 10.5 ESR2 ESR1
16 vaginitis 10.5 ESR2 ESR1 AR
17 bartholin's gland adenoma 10.5 PGR ESR1
18 nonmucinous bronchioloalveolar adenocarcinoma 10.5 ESR2 ESR1
19 uterine corpus adenosarcoma 10.5 PGR ESR1
20 bartholin's gland benign neoplasm 10.5 PGR ESR1
21 progesterone resistance 10.5 PGR ESR2 ESR1
22 vestibular gland benign neoplasm 10.5 PGR ESR1
23 cystadenocarcinoma 10.5 PGR ESR2 AKT1
24 nipple carcinoma 10.5 PGR ESR1 ERBB2
25 lung disease 10.5
26 breast mucinous cystadenocarcinoma 10.5 PGR ESR1 ERBB2
27 breast fibroadenosis 10.5 PGR ESR1 ERBB2
28 adult cystic nephroma 10.5 PGR ESR1
29 leiomyomatosis 10.5 PGR GNRH1 ESR1
30 bulbospinal polio 10.5 PGR ESR1 ERBB2
31 spinal polio 10.5 PGR ESR1 ERBB2
32 glycogen-rich clear cell breast carcinoma 10.5 PGR ESR1 ERBB2
33 breast cystic hypersecretory carcinoma 10.5 PGR ESR1 ERBB2
34 benign breast phyllodes tumor 10.5 PGR LCOR ESR1
35 adenosquamous breast carcinoma 10.5 PGR AR
36 breast squamous cell carcinoma 10.5 PGR ESR1 ERBB2
37 granulomatous endometritis 10.5 PGR ESR2 ESR1
38 vagina leiomyosarcoma 10.5 PGR ESR1
39 breast papillary carcinoma 10.5 PGR ESR1 ERBB2
40 vulvar benign neoplasm 10.5 PGR ESR1
41 scirrhous adenocarcinoma 10.5 PGR ERBB2
42 lipid-rich carcinoma 10.5 PGR ESR1 ERBB2
43 breast metaplastic carcinoma 10.5 PGR ESR1 ERBB2
44 breast adenoid cystic carcinoma 10.5 PGR ESR1 ERBB2
45 pulmonary disease, chronic obstructive 10.5
46 progesterone-receptor negative breast cancer 10.5 PGR ESR1 ERBB2
47 breast sarcoma 10.5 PGR ESR1 ERBB2
48 microglandular adenosis 10.5 PGR ESR1 ERBB2
49 breast malignant phyllodes tumor 10.5 PGR ESR1 ERBB2
50 gastric diffuse adenocarcinoma 10.5 PGR ESR1 ERBB2

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Type Ig:



Diseases related to Amelogenesis Imperfecta, Type Ig

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ig

Human phenotypes related to Amelogenesis Imperfecta, Type Ig:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000212
2 nephropathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000112
3 delayed eruption of teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000684
4 nephrocalcinosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000121
5 yellow-brown discoloration of the teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006286
6 amelogenesis imperfecta 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000705
7 increased circulating osteocalcin level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031428
8 abnormal calcium-phosphate regulating hormone level 30 Hallmark (90%) HP:0100530
9 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
10 enuresis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000805
11 hypocalciuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0003127
12 impaired renal concentrating ability 58 30 Frequent (33%) Frequent (79-30%)
HP:0004727
13 hypophosphaturia 58 30 Frequent (33%) Frequent (79-30%)
HP:0012365
14 gingival fibromatosis 30 Very rare (1%) HP:0000169
15 delayed eruption of permanent teeth 30 Very rare (1%) HP:0000696
16 abnormality of dental enamel 58 Very frequent (99-80%)
17 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
18 abnormality of dental color 58 Very frequent (99-80%)
19 overgrowth 30 HP:0001548
20 polyuria 30 HP:0000103
21 dagger-shaped pulp calcifications 30 HP:0006302

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Teeth:
gingival overgrowth
amelogenesis imperfecta, hypoplastic
yellow-brown teeth
delayed permanent dentition
coronal and radicular dagger-shaped pulpal calcifications
more
Genitourinary Bladder:
enuresis

Laboratory Abnormalities:
increased serum osteocalcin
decreased urinary calcium and phosphate excretion

Genitourinary Kidneys:
nephrocalcinosis
impaired renal concentrating ability
renal failure

Metabolic Features:
polyuria

Clinical features from OMIM®:

204690 (Updated 08-Dec-2022)

UMLS symptoms related to Amelogenesis Imperfecta, Type Ig:


polyuria

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ig:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
2 homeostasis/metabolism MP:0005376 10.38 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
3 normal MP:0002873 10.37 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
4 neoplasm MP:0002006 10.3 AKT1 AR ERBB2 ESR1 ESR2 FOS
5 muscle MP:0005369 10.27 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
6 endocrine/exocrine gland MP:0005379 10.27 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
7 renal/urinary system MP:0005367 10.24 AR CYP19A1 ESR1 ESR2 ESRRG FAM20A
8 liver/biliary system MP:0005370 10.22 AKT1 AR CYP19A1 ESR1 ESR2 GNRH1
9 cardiovascular system MP:0005385 10.22 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
10 limbs/digits/tail MP:0005371 10.21 AR ERBB2 ESR1 ESR2 FAM20A FOS
11 cellular MP:0005384 10.21 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
12 behavior/neurological MP:0005386 10.21 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
13 adipose tissue MP:0005375 10.2 AKT1 AR CYP19A1 ESR1 ESR2 ESRRA
14 embryo MP:0005380 10.13 AKT1 AR ERBB2 ESR1 ESRRB FOS
15 immune system MP:0005387 10.1 AKT1 AR CYP19A1 ESR1 ESR2 ESRRA
16 digestive/alimentary MP:0005381 10.06 AR CYP19A1 ERBB2 ESR1 ESR2 GNRH1
17 reproductive system MP:0005389 10.03 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
18 hearing/vestibular/ear MP:0005377 10 CYP19A1 ESR2 ESRRB ESRRG FOS NCOA3
19 skeleton MP:0005390 10 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
20 hematopoietic system MP:0005397 9.77 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2
21 integument MP:0010771 9.36 AKT1 AR CYP19A1 ERBB2 ESR1 ESR2

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ig

Search Clinical Trials, NIH Clinical Center for Amelogenesis Imperfecta, Type Ig

Genetic Tests for Amelogenesis Imperfecta, Type Ig

Genetic tests related to Amelogenesis Imperfecta, Type Ig:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta Type 1g 28 FAM20A

Anatomical Context for Amelogenesis Imperfecta, Type Ig

Organs/tissues related to Amelogenesis Imperfecta, Type Ig:

MalaCards : Kidney, Heart, Bone
ODiseA: Kidney

Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

(show all 48)
# Title Authors PMID Year
1
FAM20A mutations associated with enamel renal syndrome. 62 57 5
24196488 2014
2
FAM20A mutations can cause enamel-renal syndrome (ERS). 62 57 5
23468644 2013
3
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. 62 57 5
23434854 2012
4
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 57 5
21990045 2012
5
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. 57 5
21549343 2011
6
Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. 57 5
18597613 2008
7
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. 62 5
32246227 2020
8
Transcriptome analysis of gingival tissues of enamel-renal syndrome. 62 5
31131889 2019
9
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. 5
30120606 2019
10
Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature. 57
21212699 2011
11
Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. 57
15721155 2005
12
Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. 57
12597691 2003
13
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. 57
9870488 1998
14
Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings. 57
7600222 1995
15
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988
16
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. 57
3872071 1985
17
Generalized enamel hypoplasia and renal dysfunction. 57
4504766 1972
18
Hypoplastic amelogenesis imperfecta, bilateral nephrolithiasis and FGF-23-mediated hypophosphataemia: a triad of FAM20A-related enamel renal syndrome. 62
36351670 2022
19
Enamel renal syndrome: A case report with review of literature. 62
35450256 2022
20
Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view. 62
36091358 2022
21
Quantification of FAM20A in human milk and identification of calcium metabolism proteins. 62
34957696 2021
22
Enamel Renal Syndrome: Protocol for a Scoping Review. 62
34851300 2021
23
Syndromes with gingival fibromatosis: A systematic review. 62
32335995 2021
24
Enamel Renal Syndrome: A Systematic Review. 62
33994680 2021
25
Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach. 62
34777248 2021
26
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. 62
32835847 2020
27
Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome. 62
33425910 2020
28
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 62
30394349 2019
29
Association of enamel-renal syndrome with sialolith: A rare entity. 62
30967741 2019
30
Enamel renal gingival syndrome: A rare case report. 62
30692747 2019
31
Enamel-Renal-Syndrome: case report. 62
29672880 2018
32
Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome. 62
29166418 2018
33
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 62
29439260 2018
34
Association of Amelogenesis Imperfecta and Bartter's Syndrome. 62
28904439 2017
35
Periodontal disease and FAM20A mutations. 62
28298625 2017
36
Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child. 62
27541981 2017
37
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. 62
28086997 2017
38
Enamel Renal Syndrome: A Case History Report. 62
28085972 2017
39
FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? 62
28515694 2017
40
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. 62
26740946 2015
41
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. 62
26389061 2015
42
Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation. 62
24756937 2014
43
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. 62
24927635 2014
44
Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review. 62
24960394 2014
45
Enamel-renal-gingival syndrome and FAM20A mutations. 62
24259279 2014
46
Enamel renal syndrome: a rare case report. 62
22918105 2012
47
Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. 62
23341834 2012
48
Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? 62
16799168 2006

Variations for Amelogenesis Imperfecta, Type Ig

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ig:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM20A NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) SNV Pathogenic
30879 rs144411158 GRCh37: 17:66551883-66551883
GRCh38: 17:68555742-68555742
2 FAM20A NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) MICROSAT Pathogenic
35475 rs587776911 GRCh37: 17:66596773-66596774
GRCh38: 17:68600632-68600633
3 FAM20A NM_017565.4(FAM20A):c.590-2A>G SNV Pathogenic
35478 rs587776914 GRCh37: 17:66550970-66550970
GRCh38: 17:68554829-68554829
4 FAM20A NM_017565.4(FAM20A):c.612del (p.Leu205fs) DEL Pathogenic
139650 rs587777531 GRCh37: 17:66550946-66550946
GRCh38: 17:68554805-68554805
5 FAM20A NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) DEL Pathogenic
1240402 GRCh37: 17:66596663-66596697
GRCh38: 17:68600522-68600556
6 FAM20A NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) DEL Pathogenic
1322863 GRCh37: 17:66596441-66596459
GRCh38: 17:68600300-68600318
7 FAM20A NM_017565.4(FAM20A):c.455dup (p.Leu153fs) DUP Pathogenic
1322864 GRCh37: 17:66551833-66551834
GRCh38: 17:68555692-68555693
8 PRKAR1A and overlap with 1 gene(s) NM_001276290.1(PRKAR1A):c.973+4267_974-9286del DEL Pathogenic
1691825 GRCh37: 17:66530406-66537936
GRCh38: 17:68534265-68541795
9 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.813-2A>G SNV Pathogenic
35476 rs587776912 GRCh37: 17:66538952-66538952
GRCh38: 17:68542811-68542811
10 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) DEL Pathogenic
35477 rs587776913 GRCh37: 17:66537030-66537034
GRCh38: 17:68540889-68540893
11 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) SNV Pathogenic
35479 rs387907215 GRCh37: 17:66538937-66538937
GRCh38: 17:68542796-68542796
12 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.720-2A>G SNV Pathogenic
139648 rs587777530 GRCh37: 17:66539864-66539864
GRCh38: 17:68543723-68543723
13 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) SNV Pathogenic
139649 rs139620139 GRCh37: 17:66533812-66533812
GRCh38: 17:68537671-68537671
14 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) DEL Pathogenic
1029473 rs760163489 GRCh37: 17:66538845-66538848
GRCh38: 17:68542704-68542707
15 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.734_735del (p.Glu245fs) DEL Pathogenic
1189033 GRCh37: 17:66539847-66539848
GRCh38: 17:68543706-68543707
16 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC INDEL Pathogenic
1691422 GRCh37: 17:66538119-66538123
GRCh38: 17:68541978-68541982
17 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1219+2T>C SNV Likely Pathogenic
1324372 GRCh37: 17:66536988-66536988
GRCh38: 17:68540847-68540847
18 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1171C>T (p.Gln391Ter) SNV Likely Pathogenic
1324373 GRCh37: 17:66537038-66537038
GRCh38: 17:68540897-68540897
19 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1219+3_1219+6del MICROSAT Likely Pathogenic
873033 rs2086254952 GRCh37: 17:66536984-66536987
GRCh38: 17:68540843-68540846
20 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) SNV Likely Pathogenic
1691423 GRCh37: 17:66536096-66536096
GRCh38: 17:68539955-68539955
21 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.885del (p.Thr296fs) DEL Likely Pathogenic
587516 rs1568724130 GRCh37: 17:66538878-66538878
GRCh38: 17:68542737-68542737
22 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) SNV Likely Pathogenic
1691824 GRCh37: 17:66539824-66539824
GRCh38: 17:68543683-68543683
23 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) SNV Benign
260830 rs2907373 GRCh37: 17:66533655-66533655
GRCh38: 17:68537514-68537514
24 FAM20A, PRKAR1A NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) SNV Benign
260833 rs2302234 GRCh37: 17:66538239-66538239
GRCh38: 17:68542098-68542098

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type Ig:

73
# Symbol AA change Variation ID SNP ID
1 FAM20A p.Leu173Arg VAR_072170
2 FAM20A p.Gly331Asp VAR_072171 rs981673034
3 FAM20A p.Asp403Asn VAR_072172 rs377432171

Expression for Amelogenesis Imperfecta, Type Ig

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Ig.

Pathways for Amelogenesis Imperfecta, Type Ig

Pathways related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 AKT1 AR ERBB2 ESR1 ESR2 ESRRA
2
Show member pathways
13.63 PRKAR1A PELP1 NCOA3 GNRH1 FOS ESR2
3 13.55 PRKAR1A PGR PELP1 NCOA3 H2AC18 GPER1
4
Show member pathways
13.21 AKT1 ERBB2 ESR1 ESR2 FOS GNRH1
5
Show member pathways
12.95 PGR NCOA3 H2AC18 FOS ESR2 ESR1
6 12.77 PGR FOS ESR1 ERBB2 AKT1
7
Show member pathways
12.39 FOS ESR1 ERBB2 AKT1
8
Show member pathways
12.34 FOS ESR2 ESR1 AKT1
9
Show member pathways
12.3 PGR NCOA3 FOS ESR1
10
Show member pathways
12.28 PRKAR1A NCOA3 ESR2 ESR1 ERBB2 AKT1
11
Show member pathways
12.13 PGR NCOA3 FOS ESR2 ESR1 ERBB2
12 12.12 NCOA3 ESR1 CYP19A1 AR AKT1
13
Show member pathways
11.94 PRKAR1A FOS ERBB2 AKT1
14 11.87 AKT1 AR ESR1 ESR2 FOS
15 11.74 FOS ESR1 AR AKT1
16
Show member pathways
11.65 NCOA3 FOS ESR1
17 11.64 FOS ESR1 AKT1
18 11.58 PELP1 AR AKT1
19
Show member pathways
11.58 PGR ESRRG ESRRB ESRRA ESR2 ESR1
20 11.47 ESR1 ESR2 LCOR NCOA3 PGR
21 11.44 FOS CYP19A1 AR
22 11.41 NCOA3 FOS ESR1 AR
23 11.38 PGR ESR2 CYP19A1 AKT1
24 11.32 PGR ESR2 ESR1 ERBB2
25 11.28 FOS ERBB2 AKT1
26 11.21 FOS ESR2 ESR1
27 11.11 PELP1 ESR2 ESR1 AKT1
28 11.07 AKT1 ESR1 FOS GPER1
29 11.03 ESR1 ESR2 FOS PELP1
30 10.85 ERBB2 ESR1 PGR
31 10.83 NCOA3 ESR2
32 10.28 PELP1 GNRH1 FOS AR AKT1
33 10.23 ESR2 ESR1 CYP19A1

GO Terms for Amelogenesis Imperfecta, Type Ig

Cellular components related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.58 PGR NCOA3 FOS ESRRG ESRRB ESRRA

Biological processes related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.51 AR ESR1 ESR2 ESRRA ESRRB ESRRG
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.3 AKT1 AR ESR1 ESRRA ESRRB ESRRG
3 positive regulation of DNA-templated transcription GO:0045893 10.28 FOS ESRRG ESRRB ESRRA ESR2 ESR1
4 regulation of DNA-templated transcription GO:0006355 10.27 AR ESR1 ESR2 ESRRA ESRRB ESRRG
5 negative regulation of gene expression GO:0010629 10.24 PRKAR1A PGR GPER1 ESR1 AKT1
6 cellular response to epidermal growth factor stimulus GO:0071364 10 FOS ERBB2 AKT1
7 intracellular estrogen receptor signaling pathway GO:0030520 9.93 ESR2 ESR1 AR
8 cellular response to estrogen stimulus GO:0071391 9.88 PELP1 ESR1 AR
9 intracellular receptor signaling pathway GO:0030522 9.87 ESRRB ESRRA ESR1 AR
10 prostate gland growth GO:0060736 9.85 CYP19A1 AR
11 cellular response to estradiol stimulus GO:0071392 9.85 ESR1 ESR2 GPER1 LCOR NCOA3
12 cell dedifferentiation GO:0043697 9.8 ESRRB NCOA3
13 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.78 PGR AR
14 intracellular steroid hormone receptor signaling pathway GO:0030518 9.65 PGR GPER1 ESR2 ESR1 AR
15 steroid hormone mediated signaling pathway GO:0043401 9.32 PGR GPER1 ESRRG ESRRB ESRRA ESR1

Molecular functions related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.3 AR ESR1 ESR2 ESRRA ESRRB ESRRG
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.27 PGR FOS ESRRG ESRRB ESR1 AR
3 DNA-binding transcription factor activity GO:0003700 10.22 PGR FOS ESRRG ESRRB ESRRA ESR2
4 ATPase binding GO:0051117 10.03 PGR PELP1 ESR1 AR
5 sequence-specific DNA binding GO:0043565 10.02 PGR FOS ESRRG ESRRB ESRRA ESR2
6 nuclear receptor activity GO:0004879 10 AR ESR1 ESR2 ESRRA ESRRB ESRRG
7 transcription coactivator binding GO:0001223 9.95 PGR ESR1 AR
8 estrogen response element binding GO:0034056 9.85 ESR1 ESR2 ESRRG
9 nitric-oxide synthase regulator activity GO:0030235 9.81 ESR1 AKT1
10 nuclear estrogen receptor activity GO:0030284 9.73 GPER1 ESR2 ESR1
11 nuclear steroid receptor activity GO:0003707 9.7 PGR ESRRG ESRRB ESRRA ESR2 ESR1
12 steroid binding GO:0005496 9.53 PGR GPER1 ESRRG ESRRB ESRRA ESR2

Sources for Amelogenesis Imperfecta, Type Ig

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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