CTRCT38
MCID: CTR183
MIFTS: 40

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 56 12 73 15 71
Cataract, Autosomal Recessive Congenital 5 56 29 13 6
Ctrct38 56 12 73
Catc5 56 12 73
Autosomal Recessive Congenital Cataract 5 12 73
Cataract 38, Autosomal Recessive 56 29
Cataract, Autosomal Recessive Congenital 5; Catc5 56
Cataract, Type 38 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cataract 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110245
OMIM 56 614691
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 258211005 609587005 79410001
UMLS 71 C3553494

Summaries for Cataract 38

UniProtKB/Swiss-Prot : 73 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 leigh syndrome with leukodystrophy and hemorrhagic cystitis. An important gene associated with Cataract 38 is AGK (Acylglycerol Kinase), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include eye, and related phenotypes are developmental cataract and growth/size/body region

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 19)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome with leukodystrophy 10.1 SDHA NDUFS4
2 hemorrhagic cystitis 9.9 TOP1 HMOX1
3 hypochondriasis 9.9 NTF4 NTF3
4 serous labyrinthitis 9.9 NTF4 NTF3
5 diabetic encephalopathy 9.9 NGF HMOX1
6 thiamine deficiency disease 9.7 NGF CHAT
7 spinocerebellar ataxia type 1 with axonal neuropathy 9.7 TOP1 ATM
8 lesion of sciatic nerve 9.7 NTF4 NGF
9 diabetic autonomic neuropathy 9.6 NTF3 NGF
10 wernicke-korsakoff syndrome 9.5 NGF CHAT
11 ocular dominance 9.4 NTF3 NGF CHAT
12 mononeuritis of lower limb 9.4 NTF4 NTF3 NGF
13 secondary progressive multiple sclerosis 9.3 NTF4 NTF3 NGF
14 toxic encephalopathy 9.3 NTF3 NGF HMOX1 CHAT
15 diabetic polyneuropathy 9.2 NTF3 NGF
16 huntington disease 9.0 NTF3 NGF NDUFS4 CHAT
17 parkinson disease, late-onset 8.7 NTF4 NTF3 NGF NDUFS4 HMOX1 CHAT
18 neuroblastoma 8.0 TOP1 NTF4 NTF3 NGF HMOX1 CHAT
19 retinitis pigmentosa 7.9 OLIG2 NTF4 NTF3 NGF HMOX1 GUSB

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:

56
Head And Neck Eyes:
congenital cataract

Clinical features from OMIM:

614691

MGI Mouse Phenotypes related to Cataract 38:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ATM CHAT GUSB HMOX1 NDUFS4 NGF
2 behavior/neurological MP:0005386 10.02 ATM CHAT GUSB HMOX1 NDUFS4 NGF
3 mortality/aging MP:0010768 9.97 AGK ATM CHAT GUSB HMOX1 NDUFS4
4 homeostasis/metabolism MP:0005376 9.96 ATM CHAT GUSB HMOX1 NDUFS4 NGF
5 muscle MP:0005369 9.43 CHAT HMOX1 NDUFS4 NGF NTF3 OLIG2
6 respiratory system MP:0005388 9.1 CHAT HMOX1 NDUFS4 NTF3 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

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. 56 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 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AGK NM_018238.4(AGK):c.424-3C>GSNV Pathogenic 209129 rs766413410 7:141315268-141315268 7:141615468-141615468
2 AGK NM_018238.4(AGK):c.863C>T (p.Ala288Val)SNV Conflicting interpretations of pathogenicity 214070 rs763068104 7:141341184-141341184 7:141641384-141641384
3 AGK NM_018238.4(AGK):c.1088C>T (p.Thr363Met)SNV Conflicting interpretations of pathogenicity 214079 rs142069429 7:141351366-141351366 7:141651566-141651566
4 AGK NM_018238.4(AGK):c.424-11T>CSNV Conflicting interpretations of pathogenicity 359056 rs200973491 7:141315260-141315260 7:141615460-141615460
5 AGK NM_018238.4(AGK):c.684G>A (p.Gly228=)SNV Conflicting interpretations of pathogenicity 514781 rs150732826 7:141336775-141336775 7:141636975-141636975
6 AGK NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)duplication Conflicting interpretations of pathogenicity 524160 rs1554405928 7:141352592-141352593 7:141652792-141652793
7 AGK NM_018238.4(AGK):c.727-9C>TSNV Conflicting interpretations of pathogenicity 214067 rs199977261 7:141341039-141341039 7:141641239-141641239
8 AGK NM_018238.4(AGK):c.877+14C>TSNV Conflicting interpretations of pathogenicity 136319 rs41275003 7:141341212-141341212 7:141641412-141641412
9 AGK NM_018238.4(AGK):c.1098C>T (p.Leu366=)SNV Conflicting interpretations of pathogenicity 359066 rs369042931 7:141351376-141351376 7:141651576-141651576
10 AGK NM_018238.4(AGK):c.-14-3T>CSNV Conflicting interpretations of pathogenicity 383284 rs371437227 7:141255250-141255250 7:141555450-141555450
11 AGK NM_018238.4(AGK):c.877+15G>ASNV Conflicting interpretations of pathogenicity 381287 rs201052151 7:141341213-141341213 7:141641413-141641413
12 AGK NM_018238.4(AGK):c.1131+11A>GSNV Conflicting interpretations of pathogenicity 377453 rs202069684 7:141351420-141351420 7:141651620-141651620
13 AGK NM_018238.4(AGK):c.*1301C>TSNV Uncertain significance 359084 rs553433680 7:141354025-141354025 7:141654225-141654225
14 AGK NM_018238.4(AGK):c.963G>A (p.Gln321=)SNV Uncertain significance 359064 rs746403177 7:141341696-141341696 7:141641896-141641896
15 AGK NM_018238.4(AGK):c.*365G>ASNV Uncertain significance 359073 rs886062024 7:141353089-141353089 7:141653289-141653289
16 AGK NM_018238.4(AGK):c.*1237G>ASNV Uncertain significance 359083 rs202211411 7:141353961-141353961 7:141654161-141654161
17 AGK NM_018238.4(AGK):c.*1319G>ASNV Uncertain significance 359086 rs535922151 7:141354043-141354043 7:141654243-141654243
18 AGK NM_018238.4(AGK):c.803C>A (p.Thr268Asn)SNV Uncertain significance 214068 rs142779190 7:141341124-141341124 7:141641324-141641324
19 AGK NM_018238.4(AGK):c.*1127C>ASNV Uncertain significance 359079 rs886062027 7:141353851-141353851 7:141654051-141654051
20 AGK NM_018238.4(AGK):c.-36G>ASNV Uncertain significance 359055 rs570988835 7:141251213-141251213 7:141551413-141551413
21 AGK NM_018238.4(AGK):c.763A>G (p.Thr255Ala)SNV Uncertain significance 359062 rs886062020 7:141341084-141341084 7:141641284-141641284
22 AGK NM_018238.4(AGK):c.257C>G (p.Pro86Arg)SNV Uncertain significance 535810 rs762680550 7:141301040-141301040 7:141601240-141601240
23 AGK NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del)deletion Uncertain significance 661404 7:141349122-141349127 7:141649322-141649327
24 AGK NM_018238.4(AGK):c.55C>T (p.Leu19Phe)SNV Uncertain significance 909780 7:141255321-141255321 7:141555521-141555521
25 AGK NM_018238.4(AGK):c.217A>G (p.Lys73Glu)SNV Uncertain significance 910680 7:141296437-141296437 7:141596637-141596637
26 AGK NM_018238.4(AGK):c.355A>G (p.Ile119Val)SNV Uncertain significance 910682 7:141311052-141311052 7:141611252-141611252
27 AGK NM_018238.4(AGK):c.511A>G (p.Lys171Glu)SNV Uncertain significance 911913 7:141315358-141315358 7:141615558-141615558
28 AGK NM_018238.4(AGK):c.619A>G (p.Thr207Ala)SNV Uncertain significance 908978 7:141333731-141333731 7:141633931-141633931
29 AGK NM_018238.4(AGK):c.742C>T (p.His248Tyr)SNV Uncertain significance 908979 7:141341063-141341063 7:141641263-141641263
30 AGK NM_018238.4(AGK):c.*197C>TSNV Uncertain significance 909896 7:141352921-141352921 7:141653121-141653121
31 AGK NM_018238.4(AGK):c.*231C>TSNV Uncertain significance 909897 7:141352955-141352955 7:141653155-141653155
32 AGK NM_018238.4(AGK):c.*241A>GSNV Uncertain significance 910799 7:141352965-141352965 7:141653165-141653165
33 AGK NM_018238.4(AGK):c.*364C>GSNV Uncertain significance 910800 7:141353088-141353088 7:141653288-141653288
34 AGK NM_018238.4(AGK):c.*621T>CSNV Uncertain significance 912010 7:141353345-141353345 7:141653545-141653545
35 AGK NM_018238.4(AGK):c.*662A>GSNV Uncertain significance 912011 7:141353386-141353386 7:141653586-141653586
36 AGK NM_018238.4(AGK):c.*754G>ASNV Uncertain significance 909096 7:141353478-141353478 7:141653678-141653678
37 AGK NM_018238.4(AGK):c.*758T>CSNV Uncertain significance 909097 7:141353482-141353482 7:141653682-141653682
38 AGK NM_018238.4(AGK):c.*1006T>CSNV Uncertain significance 909952 7:141353730-141353730 7:141653930-141653930
39 AGK NM_018238.4(AGK):c.*1067T>GSNV Uncertain significance 909953 7:141353791-141353791 7:141653991-141653991
40 AGK NM_018238.4(AGK):c.*1126T>ASNV Uncertain significance 909954 7:141353850-141353850 7:141654050-141654050
41 AGK NM_018238.4(AGK):c.637T>C (p.Ser213Pro)SNV Uncertain significance 359060 rs886062019 7:141333749-141333749 7:141633949-141633949
42 AGK NM_018238.4(AGK):c.*933C>TSNV Uncertain significance 359075 rs73171606 7:141353657-141353657 7:141653857-141653857
43 AGK NM_018238.4(AGK):c.*967T>CSNV Uncertain significance 359076 rs886062026 7:141353691-141353691 7:141653891-141653891
44 AGK NM_018238.4(AGK):c.*1024C>TSNV Uncertain significance 359078 rs78124534 7:141353748-141353748 7:141653948-141653948
45 AGK NM_018238.4(AGK):c.743A>C (p.His248Pro)SNV Uncertain significance 359061 rs150160397 7:141341064-141341064 7:141641264-141641264
46 AGK NM_018238.4(AGK):c.1052G>A (p.Arg351Gln)SNV Uncertain significance 359065 rs374861637 7:141351330-141351330 7:141651530-141651530
47 AGK NM_018238.4(AGK):c.*265G>ASNV Uncertain significance 359069 rs886062022 7:141352989-141352989 7:141653189-141653189
48 AGK NM_018238.4(AGK):c.297+3A>GSNV Uncertain significance 910681 7:141301083-141301083 7:141601283-141601283
49 AGK NM_018238.4(AGK):c.976-9C>TSNV Uncertain significance 911967 7:141349054-141349054 7:141649254-141649254
50 AGK NM_018238.4(AGK):c.*97G>TSNV Uncertain significance 909036 7:141352821-141352821 7:141653021-141653021

Expression for Cataract 38

Search GEO for disease gene expression data for Cataract 38.

Pathways for Cataract 38

GO Terms for Cataract 38

Cellular components related to Cataract 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.26 SDHA NDUFS4 CABS1 AGK
2 synaptic vesicle GO:0008021 8.8 NTF4 NTF3 NGF

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 NTF4 NTF3 NGF
2 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.65 NTF4 NTF3 NGF
3 modulation of chemical synaptic transmission GO:0050804 9.63 NTF4 NTF3 NGF
4 negative regulation of neuron apoptotic process GO:0043524 9.62 NTF4 NTF3 NGF HMOX1
5 memory GO:0007613 9.61 NTF4 NTF3 NGF
6 neuron projection morphogenesis GO:0048812 9.58 NTF4 NTF3 NGF
7 neurotrophin TRK receptor signaling pathway GO:0048011 9.51 NTF4 NGF
8 regulation of neuron differentiation GO:0045664 9.43 NTF4 NTF3 NGF
9 nerve growth factor processing GO:0032455 9.37 PCSK5 NGF
10 peripheral nervous system development GO:0007422 9.33 NTF4 NTF3 NGF
11 nerve development GO:0021675 9.13 NTF4 NTF3 NGF
12 nerve growth factor signaling pathway GO:0038180 8.8 NTF4 NTF3 NGF

Molecular functions related to Cataract 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 NTF4 NTF3 NGF
2 signaling receptor binding GO:0005102 9.26 NTF4 NTF3 NGF GUSB
3 nerve growth factor receptor binding GO:0005163 8.8 NTF4 NTF3 NGF

Sources for Cataract 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....