CTRCT38
MCID: CTR183
MIFTS: 35

Cataract 38 (CTRCT38)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 38

MalaCards integrated aliases for Cataract 38:

Name: Cataract 38 57 12 72 15 70
Cataract, Autosomal Recessive Congenital 5 57 29 13 6
Ctrct38 57 12 72
Catc5 57 12 72
Autosomal Recessive Congenital Cataract 5 12 72
Cataract 38, Autosomal Recessive 57 29
Cataract, Autosomal Recessive Congenital 5; Catc5 57
Cataract, Type 38 39

Characteristics:

OMIM®:

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


HPO:

31
cataract 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110245
OMIM® 57 614691
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 258211005 609587005 79410001
UMLS 70 C3553494

Summaries for Cataract 38

UniProtKB/Swiss-Prot : 72 Cataract 38: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 38, also known as cataract, autosomal recessive congenital 5, is related to neurotic disorder and mitochondrial metabolism disease. An important gene associated with Cataract 38 is AGK (Acylglycerol Kinase), and among its related pathways/superpathways is Metformin Pathway, Pharmacodynamics. Affiliated tissues include eye and brain, and related phenotypes are developmental cataract and mortality/aging

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the AGK gene on chromosome 7q34.

More information from OMIM: 614691 PS116200

Related Diseases for Cataract 38

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 38 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 neurotic disorder 10.0 PCSK5 CHAT
2 mitochondrial metabolism disease 10.0 SDHA NDUFS4 AGK
3 leigh syndrome with leukodystrophy 9.9 SDHA NDUFS4
4 lactic acidosis 9.9 NDUFS4 CHAT AGK
5 hemorrhagic cystitis 9.8 TOP1 HMOX1
6 barth syndrome 9.8 SDHA AGK
7 spinocerebellar ataxia type 1 with axonal neuropathy 9.8 TOP1 ATM
8 telangiectasis 9.7 TOP1 ATM
9 brain cancer 9.3 TOP1 OLIG2 ATM
10 disease of mental health 8.9 PCSK5 OLIG2 HMOX1 GUSB CHAT ATM
11 retinitis pigmentosa 8.9 SDHA OLIG2 HMOX1 GUSB CHAT ATM

Graphical network of the top 20 diseases related to Cataract 38:



Diseases related to Cataract 38

Symptoms & Phenotypes for Cataract 38

Human phenotypes related to Cataract 38:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
congenital cataract

Clinical features from OMIM®:

614691 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cataract 38:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.65 AGK ATM CHAT GUSB HMOX1 NDUFS4
2 respiratory system MP:0005388 9.02 CHAT HMOX1 NDUFS4 OLIG2 PCSK5

Drugs & Therapeutics for Cataract 38

Search Clinical Trials , NIH Clinical Center for Cataract 38

Genetic Tests for Cataract 38

Genetic tests related to Cataract 38:

# Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 5 29 AGK
2 Cataract 38, Autosomal Recessive 29

Anatomical Context for Cataract 38

MalaCards organs/tissues related to Cataract 38:

40
Eye, Brain

Publications for Cataract 38

Articles related to Cataract 38:

# Title Authors PMID Year
1
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 57 6
22415731 2012
2
Profile of Patients Presenting for Cataract Surgery in a Public Hospital: A 15 Year Perspective. 61
28457062 2017
3
The current state of diabetes management in Taiwan. 61
11580970 2001
4
Retinal detachment associated with atopic dermatitis. 61
8664234 1996
5
[Congenital malformations of the eyeball and its appendices in Zaire]. 61
7493117 1994
6
Causes of blindness and visual handicap in the Central African Republic. 61
2043571 1991
7
Toxic ocular effects of two fibrinolytic drugs. An experimental electroretinographic study on albino rabbits. 61
6349235 1983

Variations for Cataract 38

ClinVar genetic disease variations for Cataract 38:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGK NM_018238.4(AGK):c.424-3C>G SNV Pathogenic 209129 rs766413410 GRCh37: 7:141315268-141315268
GRCh38: 7:141615468-141615468
2 DENND11 , AGK NM_018238.4(AGK):c.*265G>A SNV Uncertain significance 359069 rs886062022 GRCh37: 7:141352989-141352989
GRCh38: 7:141653189-141653189
3 DENND11 , AGK NM_018238.4(AGK):c.*1127C>A SNV Uncertain significance 359079 rs886062027 GRCh37: 7:141353851-141353851
GRCh38: 7:141654051-141654051
4 AGK NM_018238.4(AGK):c.424-11T>C SNV Uncertain significance 359056 rs200973491 GRCh37: 7:141315260-141315260
GRCh38: 7:141615460-141615460
5 DENND11 , AGK NM_018238.4(AGK):c.*1237G>A SNV Uncertain significance 359083 rs202211411 GRCh37: 7:141353961-141353961
GRCh38: 7:141654161-141654161
6 AGK NM_018238.4(AGK):c.1088C>T (p.Thr363Met) SNV Uncertain significance 214079 rs142069429 GRCh37: 7:141351366-141351366
GRCh38: 7:141651566-141651566
7 AGK NM_018238.4(AGK):c.963G>A (p.Gln321=) SNV Uncertain significance 359064 rs746403177 GRCh37: 7:141341696-141341696
GRCh38: 7:141641896-141641896
8 AGK NM_018238.4(AGK):c.743A>C (p.His248Pro) SNV Uncertain significance 359061 rs150160397 GRCh37: 7:141341064-141341064
GRCh38: 7:141641264-141641264
9 DENND11 , AGK NM_018238.4(AGK):c.*1319G>A SNV Uncertain significance 359086 rs535922151 GRCh37: 7:141354043-141354043
GRCh38: 7:141654243-141654243
10 AGK NM_018238.4(AGK):c.863C>T (p.Ala288Val) SNV Uncertain significance 214070 rs763068104 GRCh37: 7:141341184-141341184
GRCh38: 7:141641384-141641384
11 AGK NM_018238.4(AGK):c.-36G>A SNV Uncertain significance 359055 rs570988835 GRCh37: 7:141251213-141251213
GRCh38: 7:141551413-141551413
12 AGK NM_018238.4(AGK):c.763A>G (p.Thr255Ala) SNV Uncertain significance 359062 rs886062020 GRCh37: 7:141341084-141341084
GRCh38: 7:141641284-141641284
13 DENND11 , AGK NM_018238.4(AGK):c.*933C>T SNV Uncertain significance 359075 rs73171606 GRCh37: 7:141353657-141353657
GRCh38: 7:141653857-141653857
14 AGK NM_018238.4(AGK):c.637T>C (p.Ser213Pro) SNV Uncertain significance 359060 rs886062019 GRCh37: 7:141333749-141333749
GRCh38: 7:141633949-141633949
15 DENND11 , AGK NM_018238.4(AGK):c.*1024C>T SNV Uncertain significance 359078 rs78124534 GRCh37: 7:141353748-141353748
GRCh38: 7:141653948-141653948
16 DENND11 , AGK NM_018238.4(AGK):c.*1301C>T SNV Uncertain significance 359084 rs553433680 GRCh37: 7:141354025-141354025
GRCh38: 7:141654225-141654225
17 DENND11 , AGK NM_018238.4(AGK):c.*365G>A SNV Uncertain significance 359073 rs886062024 GRCh37: 7:141353089-141353089
GRCh38: 7:141653289-141653289
18 AGK NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) SNV Uncertain significance 359065 rs374861637 GRCh37: 7:141351330-141351330
GRCh38: 7:141651530-141651530
19 AGK NM_018238.4(AGK):c.1098C>T (p.Leu366=) SNV Uncertain significance 359066 rs369042931 GRCh37: 7:141351376-141351376
GRCh38: 7:141651576-141651576
20 DENND11 , AGK NM_018238.4(AGK):c.*967T>C SNV Uncertain significance 359076 rs886062026 GRCh37: 7:141353691-141353691
GRCh38: 7:141653891-141653891
21 AGK NM_018238.4(AGK):c.257C>G (p.Pro86Arg) SNV Uncertain significance 535810 rs762680550 GRCh37: 7:141301040-141301040
GRCh38: 7:141601240-141601240
22 AGK NM_018238.4(AGK):c.803C>A (p.Thr268Asn) SNV Uncertain significance 214068 rs142779190 GRCh37: 7:141341124-141341124
GRCh38: 7:141641324-141641324
23 DENND11 , AGK NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) Duplication Uncertain significance 524160 rs1554405928 GRCh37: 7:141352592-141352593
GRCh38: 7:141652792-141652793
24 AGK NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) Deletion Uncertain significance 661404 rs758017978 GRCh37: 7:141349122-141349127
GRCh38: 7:141649322-141649327
25 DENND11 , AGK NM_018238.4(AGK):c.*197C>T SNV Uncertain significance 909896 GRCh37: 7:141352921-141352921
GRCh38: 7:141653121-141653121
26 DENND11 , AGK NM_018238.4(AGK):c.*1006T>C SNV Uncertain significance 909952 GRCh37: 7:141353730-141353730
GRCh38: 7:141653930-141653930
27 DENND11 , AGK NM_018238.4(AGK):c.*1067T>G SNV Uncertain significance 909953 GRCh37: 7:141353791-141353791
GRCh38: 7:141653991-141653991
28 DENND11 , AGK NM_018238.4(AGK):c.*1126T>A SNV Uncertain significance 909954 GRCh37: 7:141353850-141353850
GRCh38: 7:141654050-141654050
29 AGK NM_018238.4(AGK):c.55C>T (p.Leu19Phe) SNV Uncertain significance 909780 GRCh37: 7:141255321-141255321
GRCh38: 7:141555521-141555521
30 AGK NM_018238.4(AGK):c.217A>G (p.Lys73Glu) SNV Uncertain significance 910680 GRCh37: 7:141296437-141296437
GRCh38: 7:141596637-141596637
31 AGK NM_018238.4(AGK):c.297+3A>G SNV Uncertain significance 910681 GRCh37: 7:141301083-141301083
GRCh38: 7:141601283-141601283
32 AGK NM_018238.4(AGK):c.355A>G (p.Ile119Val) SNV Uncertain significance 910682 GRCh37: 7:141311052-141311052
GRCh38: 7:141611252-141611252
33 AGK NM_018238.4(AGK):c.877+15G>A SNV Uncertain significance 381287 rs201052151 GRCh37: 7:141341213-141341213
GRCh38: 7:141641413-141641413
34 DENND11 , AGK NM_018238.4(AGK):c.*231C>T SNV Uncertain significance 909897 GRCh37: 7:141352955-141352955
GRCh38: 7:141653155-141653155
35 DENND11 , AGK NM_018238.4(AGK):c.*241A>G SNV Uncertain significance 910799 GRCh37: 7:141352965-141352965
GRCh38: 7:141653165-141653165
36 DENND11 , AGK NM_018238.4(AGK):c.*364C>G SNV Uncertain significance 910800 GRCh37: 7:141353088-141353088
GRCh38: 7:141653288-141653288
37 AGK NM_018238.4(AGK):c.511A>G (p.Lys171Glu) SNV Uncertain significance 911913 GRCh37: 7:141315358-141315358
GRCh38: 7:141615558-141615558
38 AGK NM_018238.4(AGK):c.619A>G (p.Thr207Ala) SNV Uncertain significance 908978 GRCh37: 7:141333731-141333731
GRCh38: 7:141633931-141633931
39 AGK NM_018238.4(AGK):c.976-9C>T SNV Uncertain significance 911967 GRCh37: 7:141349054-141349054
GRCh38: 7:141649254-141649254
40 DENND11 , AGK NM_018238.4(AGK):c.*621T>C SNV Uncertain significance 912010 GRCh37: 7:141353345-141353345
GRCh38: 7:141653545-141653545
41 DENND11 , AGK NM_018238.4(AGK):c.*662A>G SNV Uncertain significance 912011 GRCh37: 7:141353386-141353386
GRCh38: 7:141653586-141653586
42 AGK NM_018238.4(AGK):c.684G>A (p.Gly228=) SNV Uncertain significance 514781 rs150732826 GRCh37: 7:141336775-141336775
GRCh38: 7:141636975-141636975
43 AGK NM_018238.4(AGK):c.727-9C>T SNV Uncertain significance 214067 rs199977261 GRCh37: 7:141341039-141341039
GRCh38: 7:141641239-141641239
44 AGK NM_018238.4(AGK):c.742C>T (p.His248Tyr) SNV Uncertain significance 908979 GRCh37: 7:141341063-141341063
GRCh38: 7:141641263-141641263
45 DENND11 , AGK NM_018238.4(AGK):c.*754G>A SNV Uncertain significance 909096 GRCh37: 7:141353478-141353478
GRCh38: 7:141653678-141653678
46 DENND11 , AGK NM_018238.4(AGK):c.*758T>C SNV Uncertain significance 909097 GRCh37: 7:141353482-141353482
GRCh38: 7:141653682-141653682
47 AGK NM_018238.4(AGK):c.-14-3T>C SNV Uncertain significance 383284 rs371437227 GRCh37: 7:141255250-141255250
GRCh38: 7:141555450-141555450
48 AGK NM_018238.4(AGK):c.803C>A (p.Thr268Asn) SNV Uncertain significance 214068 rs142779190 GRCh37: 7:141341124-141341124
GRCh38: 7:141641324-141641324
49 DENND11 , AGK NM_018238.4(AGK):c.*125C>T SNV Uncertain significance 909037 GRCh37: 7:141352849-141352849
GRCh38: 7:141653049-141653049
50 AGK NM_018238.4(AGK):c.410G>A (p.Arg137Gln) SNV Uncertain significance 949435 GRCh37: 7:141313965-141313965
GRCh38: 7:141614165-141614165

Expression for Cataract 38

Search GEO for disease gene expression data for Cataract 38.

Pathways for Cataract 38

Pathways related to Cataract 38 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 NDUFS4 ATM

GO Terms for Cataract 38

Biological processes related to Cataract 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 8.96 HMOX1 ATM
2 cell death GO:0008219 8.62 HMOX1 GZMM

Sources for Cataract 38

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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