Amelogenesis Imperfecta, Type Ig disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

Disorders of tooth development and eruption

Hereditary disturbances in tooth structure, not elsewhere classified

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

MeSH ⁴³ D000567 D005351

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

SNOMED-CT via HPO ⁶⁹ 109620006 236423003 28442001 more

UMLS ⁷¹ C2931783

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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.

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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:

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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

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Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ig

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

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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

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Anatomical Context for Amelogenesis Imperfecta, Type Ig

Organs/tissues related to Amelogenesis Imperfecta, Type Ig:

MalaCards : Kidney, Heart, Bone

ODiseA: Kidney

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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	Wang SK...Hu JC	24196488	2014
2	FAM20A mutations can cause enamel-renal syndrome (ERS). ⁶² ⁵⁷ ⁵	Wang SK...Hu JC	23468644	2013
3	Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. ⁶² ⁵⁷ ⁵	Jaureguiberry G...Kleta R	23434854	2012
4	Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. ⁵⁷ ⁵	Cho SH...Kim JW	21990045	2012
5	Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. ⁵⁷ ⁵	O'Sullivan J...Dixon MJ	21549343	2011
6	Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. ⁵⁷ ⁵	Martelli-Junior H...Coletta RD	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	Nitayavardhana I...Shotelersuk V	32246227	2020
8	Transcriptome analysis of gingival tissues of enamel-renal syndrome. ⁶² ⁵	Wang YP...Wang SK	31131889	2019
9	Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. ⁵	Kim YJ...Kim JW	30120606	2019
10	Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature. ⁵⁷	Martelli-Junior H...Coletta RD	21212699	2011
11	Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. ⁵⁷	Paula LM...Acevedo AC	15721155	2005
12	Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. ⁵⁷	Normand de la Tranchade I...Nancy J	12597691	2003
13	Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. ⁵⁷	Dellow EL...Parkins BJ	9870488	1998
14	Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings. ⁵⁷	Hall RK...McCredie DA	7600222	1995
15	Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. ⁵⁷	Witkop CJ	3150442	1988
16	Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. ⁵⁷	Lubinsky M...Witkop CJ	3872071	1985
17	Generalized enamel hypoplasia and renal dysfunction. ⁵⁷	MacGibbon D	4504766	1972
18	Hypoplastic amelogenesis imperfecta, bilateral nephrolithiasis and FGF-23-mediated hypophosphataemia: a triad of FAM20A-related enamel renal syndrome. ⁶²	Agrawal N...Maiti A	36351670	2022
19	Enamel renal syndrome: A case report with review of literature. ⁶²	Sharma A...Singaraju M	35450256	2022
20	Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view. ⁶²	Desoutter A...Kozyraki R	36091358	2022
21	Quantification of FAM20A in human milk and identification of calcium metabolism proteins. ⁶²	Patel V...Wheeler J	34957696	2021
22	Enamel Renal Syndrome: Protocol for a Scoping Review. ⁶²	Roomaney IA...Chetty M	34851300	2021
23	Syndromes with gingival fibromatosis: A systematic review. ⁶²	Costa CRR...Acevedo AC	32335995	2021
24	Enamel Renal Syndrome: A Systematic Review. ⁶²	Farias MLM...Junior HM	33994680	2021
25	Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach. ⁶²	Simancas Escorcia V...Kozyraki R	34777248	2021
26	Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. ⁶²	Hassib NF...Abdel-Hamid MS	32835847	2020
27	Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome. ⁶²	Simancas Escorcia V...Kozyraki R	33425910	2020
28	Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. ⁶²	Dourado MR...Marques Mesquita AT	30394349	2019
29	Association of enamel-renal syndrome with sialolith: A rare entity. ⁶²	Manoj V...Panjami M	30967741	2019
30	Enamel renal gingival syndrome: A rare case report. ⁶²	Debnath K...Shenoy S	30692747	2019
31	Enamel-Renal-Syndrome: case report. ⁶²	Torres LHS...de Barros LAP	29672880	2018
32	Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome. ⁶²	Mauprivez C...Naveau A	29166418	2018
33	Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. ⁶²	Koruyucu M...Kim JW	29439260	2018
34	Association of Amelogenesis Imperfecta and Bartter's Syndrome. ⁶²	Kumar ACV...Kumar VS	28904439	2017
35	Periodontal disease and FAM20A mutations. ⁶²	Kantaputra PN...Chaisrisookumporn N	28298625	2017
36	Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child. ⁶²	Laouina S...El Alloussi M	27541981	2017
37	Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ⁶²	Pego SPB...Martelli-Junior H	28086997	2017
38	Enamel Renal Syndrome: A Case History Report. ⁶²	Costa DC...Mesquita AT	28085972	2017
39	FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? ⁶²	Lignon G...Berdal A	28515694	2017
40	A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. ⁶²	Poulter JA...Mighell AJ	26740946	2015
41	Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. ⁶²	Bhesania D...Kapoor S	26389061	2015
42	Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation. ⁶²	Kantaputra PN...Guven Y	24756937	2014
43	Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. ⁶²	de la Dure-Molla M...Bloch-Zupan A	24927635	2014
44	Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review. ⁶²	Ashkenazi M...Levin L	24960394	2014
45	Enamel-renal-gingival syndrome and FAM20A mutations. ⁶²	Kantaputra PN...Iamaroon A	24259279	2014
46	Enamel renal syndrome: a rare case report. ⁶²	Kala Vani SV...Sankar YU	22918105	2012
47	Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. ⁶²	Martelli-Junior H...Simoes E Silva AC	23341834	2012
48	Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? ⁶²	Fu XJ...Matsuo M	16799168	2006

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Genes for Amelogenesis Imperfecta, Type Ig

Genes related to Amelogenesis Imperfecta, Type Ig (2 elite genes):

(show top 50) (show all 61)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FAM20A	FAM20A Golgi Associated Secretory Pathway Pseudokinase	Protein Coding	1689.82	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	18597613 21549343 21990045 (more) 23434854 23468644 24196488 30120606 31131889 32246227
2	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	21990045 23434854 23468644 (more) 24196488 30120606 31131889 32246227
3	ESR2	Estrogen Receptor 2	Protein Coding	10.4	DISEASES inferred ¹⁴
4	ESR1	Estrogen Receptor 1	Protein Coding	9.9	DISEASES inferred ¹⁴
5	GPER1	G Protein-Coupled Estrogen Receptor 1	Protein Coding	9.54	DISEASES inferred ¹⁴
6	LCOR	Ligand Dependent Nuclear Receptor Corepressor	Protein Coding	8.82	DISEASES inferred ¹⁴ ¹⁴
7	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	8.17	DISEASES inferred ¹⁴
8	ESRRG	Estrogen Related Receptor Gamma	Protein Coding	7.63	DISEASES inferred ¹⁴
9	PGR	Progesterone Receptor	Protein Coding	7.62	DISEASES inferred ¹⁴
10	H2AC18	H2A Clustered Histone 18	Protein Coding	7.33	DISEASES inferred ¹⁴ ¹⁴
11	AR	Androgen Receptor	Protein Coding	7.16	DISEASES inferred ¹⁴
12	ESRRA	Estrogen Related Receptor Alpha	Protein Coding	7.11	DISEASES inferred ¹⁴
13	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	7.02	DISEASES inferred ¹⁴
14	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	6.84	DISEASES inferred ¹⁴
15	MIER1	MIER1 Transcriptional Regulator	Protein Coding	6.82	DISEASES inferred ¹⁴
16	ESRRB	Estrogen Related Receptor Beta	Protein Coding	6.8	DISEASES inferred ¹⁴
17	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	6.79	DISEASES inferred ¹⁴
18	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	6.78	DISEASES inferred ¹⁴
19	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	6.75	DISEASES inferred ¹⁴
20	PELP1	Proline, Glutamate And Leucine Rich Protein 1	Protein Coding	6.72	DISEASES inferred ¹⁴
21	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	6.69	DISEASES inferred ¹⁴
22	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	6.64	DISEASES inferred ¹⁴
23	IGF1	Insulin Like Growth Factor 1	Protein Coding	6.49	DISEASES inferred ¹⁴
24	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	6.49	DISEASES inferred ¹⁴
25	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	6.48	DISEASES inferred ¹⁴
26	SLC7A1	Solute Carrier Family 7 Member 1	Protein Coding	6.41	DISEASES inferred ¹⁴
27	EGFR	Epidermal Growth Factor Receptor	Protein Coding	6.41	DISEASES inferred ¹⁴
28	CCND1	Cyclin D1	Protein Coding	6.37	DISEASES inferred ¹⁴
29	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	6.37	DISEASES inferred ¹⁴
30	ACTB	Actin Beta	Protein Coding	6.31	DISEASES inferred ¹⁴
31	EGF	Epidermal Growth Factor	Protein Coding	6.31	DISEASES inferred ¹⁴
32	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	6.3	DISEASES inferred ¹⁴
33	GREB1	Growth Regulating Estrogen Receptor Binding 1	Protein Coding	6.28	DISEASES inferred ¹⁴
34	MIR9-1	MicroRNA 9-1	RNA Gene	6.26	DISEASES inferred ¹⁴ ¹⁴
35	TFF1	Trefoil Factor 1	Protein Coding	6.23	DISEASES inferred ¹⁴
36	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	6.21	DISEASES inferred ¹⁴
37	CAV1	Caveolin 1	Protein Coding	6.21	DISEASES inferred ¹⁴
38	HSD17B1	Hydroxysteroid 17-Beta Dehydrogenase 1	Protein Coding	6.21	DISEASES inferred ¹⁴
39	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	6.16	DISEASES inferred ¹⁴
40	KISS1	KiSS-1 Metastasis Suppressor	Protein Coding	6.15	DISEASES inferred ¹⁴
41	BCL2	BCL2 Apoptosis Regulator	Protein Coding	6.14	DISEASES inferred ¹⁴
42	NR1I2	Nuclear Receptor Subfamily 1 Group I Member 2	Protein Coding	6.08	DISEASES inferred ¹⁴
43	GAPDH	Glyceraldehyde-3-Phosphate Dehydrogenase	Protein Coding	6.06	DISEASES inferred ¹⁴
44	PRL	Prolactin	Protein Coding	6.06	DISEASES inferred ¹⁴
45	INS	Insulin	Protein Coding	6.04	DISEASES inferred ¹⁴
46	NOS3	Nitric Oxide Synthase 3	Protein Coding	6.01	DISEASES inferred ¹⁴
47	TP53	Tumor Protein P53	Protein Coding	5.99	DISEASES inferred ¹⁴
48	RARS1	Arginyl-TRNA Synthetase 1	Protein Coding	5.98	DISEASES inferred ¹⁴
49	IL6	Interleukin 6	Protein Coding	5.94	DISEASES inferred ¹⁴
50	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	5.93	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Amelogenesis Imperfecta, Type Ig

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

Sources

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	Gene expression (Transcription) ⁶⁶ Show member pathways Generic Transcription Pathway ⁶⁶ RNA Polymerase II Transcription ⁶⁶	14.01	AKT1 AR ERBB2 ESR1 ESR2 ESRRA
2	GPCR Pathway ⁶⁴ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁴ Estrogen Pathway ⁶⁴ NFAT in Immune Response ⁶⁴ P2Y Receptor Signaling ⁶⁴ Pancreatic Adenocarcinoma ⁶⁴ Paxillin Interactions ⁶⁴ Ras Pathway ⁶⁴	13.63	PRKAR1A PELP1 NCOA3 GNRH1 FOS ESR2
3	Signal Transduction ⁶⁶	13.55	PRKAR1A PGR PELP1 NCOA3 H2AC18 GPER1
4	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.21	AKT1 ERBB2 ESR1 ESR2 FOS GNRH1
5	ESR-mediated signaling ⁶⁶ Show member pathways Estrogen-dependent gene expression ⁶⁶ RUNX1 regulates estrogen receptor mediated transcription ⁶⁶ Signaling by Nuclear Receptors ⁶⁶	12.95	PGR NCOA3 H2AC18 FOS ESR2 ESR1
6	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.77	PGR FOS ESR1 ERBB2 AKT1
7	Hepatocyte growth factor receptor signaling ⁷⁴ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development HGF signaling pathway ²² Development Neurotrophin family signaling ²² Drug-mediated inhibition of MET activation ⁶⁶ MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ PLC-gamma1 signalling ⁶⁶ Trk receptor signaling mediated by PI3K and PLC-gamma ⁶¹ TRKA activation by NGF ⁶⁶	12.39	FOS ESR1 ERBB2 AKT1
8	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²² Extra-nuclear estrogen signaling ⁶⁶	12.34	FOS ESR2 ESR1 AKT1
9	Cell cycle Regulation of G1/S transition (part 1) ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Role of SCF complex in cell cycle regulation ²² Immune response MIF-JAB1 signaling ²² Mitotic Roles of Polo Like Kinases ⁶⁴	12.3	PGR NCOA3 FOS ESR1
10	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.28	PRKAR1A NCOA3 ESR2 ESR1 ERBB2 AKT1
11	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.13	PGR NCOA3 FOS ESR2 ESR1 ERBB2
12	Integrated breast cancer pathway ⁷⁴	12.12	NCOA3 ESR1 CYP19A1 AR AKT1
13	Development EGFR signaling via small GTPases ²² Show member pathways Development EGFR signaling via PIP3 ²² Development PDGF signaling via MAPK cascades ²²	11.94	PRKAR1A FOS ERBB2 AKT1
14	TGF-beta Signaling Pathways ⁶⁵	11.87	AKT1 AR ESR1 ESR2 FOS
15	Regulation of nuclear SMAD2/3 signaling ⁶¹	11.74	FOS ESR1 AR AKT1
16	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	11.65	NCOA3 FOS ESR1
17	Regulation of Telomerase ⁶¹	11.64	FOS ESR1 AKT1
18	Coregulation of Androgen receptor activity ⁶¹	11.58	PELP1 AR AKT1
19	Nuclear receptors ⁷⁴ Show member pathways Nuclear Receptor transcription pathway ⁶⁶ SUMOylation of intracellular receptors ⁶⁶	11.58	PGR ESRRG ESRRB ESRRA ESR2 ESR1
20	Validated nuclear estrogen receptor alpha network ⁶¹	11.47	ESR1 ESR2 LCOR NCOA3 PGR
21	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.44	FOS CYP19A1 AR
22	FOXA1 transcription factor network ⁶¹	11.41	NCOA3 FOS ESR1 AR
23	Ovarian infertility ⁷⁴	11.38	PGR ESR2 CYP19A1 AKT1
24	Mammary gland development pathway - Pregnancy and lactation (Stage 3 of 4) ⁷⁴	11.32	PGR ESR2 ESR1 ERBB2
25	ErbB2/ErbB3 signaling events ⁶¹	11.28	FOS ERBB2 AKT1
26	Apoptosis and survival_Anti-apoptotic action of nuclear ESR1 and ESR2 ²²	11.21	FOS ESR2 ESR1
27	Plasma membrane estrogen receptor signaling ⁶¹	11.11	PELP1 ESR2 ESR1 AKT1
28	Estrogen signaling pathway ⁷⁴	11.07	AKT1 ESR1 FOS GPER1
29	MNAR-PELP1 and Estrogen Receptor Interaction ⁶⁴	11.03	ESR1 ESR2 FOS PELP1
30	Mammary gland development pathway - Puberty (Stage 2 of 4) ⁷⁴	10.85	ERBB2 ESR1 PGR
31	Validated nuclear estrogen receptor beta network ⁶¹	10.83	NCOA3 ESR2
32	Nongenotropic Androgen signaling ⁶¹	10.28	PELP1 GNRH1 FOS AR AKT1
33	Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics ⁶⁰	10.23	ESR2 ESR1 CYP19A1

Sources

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

Sources for Amelogenesis Imperfecta, Type Ig

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

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⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹⁵ DrugBank

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²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

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²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴³ MeSH

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

AI1G MCID: AML044 MIFTS: 55	Amelogenesis Imperfecta, Type Ig (AI1G) Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Amelogenesis Imperfecta, Type Ig (AI1G)

Aliases & Classifications for Amelogenesis Imperfecta, Type Ig

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ig:

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

Expression for Amelogenesis Imperfecta, Type Ig

Pathways for Amelogenesis Imperfecta, Type Ig

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

GO Terms for Amelogenesis Imperfecta, Type Ig

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

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

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

Sources for Amelogenesis Imperfecta, Type Ig