CAGSSS
MCID: CTR140
MIFTS: 26

Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia (CAGSSS)

Categories: Bone diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

MalaCards integrated aliases for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

Name: Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 58 76 30 6 41 74
Cagsss 58 60 76
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome 60
Cagsss Syndrome 38

Characteristics:

Orphanet epidemiological data:

60
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three patients from 1 french canadian family have been reported (last curated november 2014)


HPO:

33
cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

UniProtKB/Swiss-Prot : 76 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia: An autosomal recessive disorder characterized by cataracts, short- stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.

MalaCards based summary : Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia, also known as cagsss, is related to west syndrome. An important gene associated with Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia is IARS2 (Isoleucyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include bone, eye and pituitary, and related phenotypes are genu valgum and thick eyebrow

Description from OMIM: 616007

Related Diseases for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Diseases related to Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 west syndrome 10.1

Symptoms & Phenotypes for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Human phenotypes related to Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
2 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 periarticular subcutaneous nodules 60 33 hallmark (90%) Very frequent (99-80%) HP:0007470
5 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
6 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
7 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
8 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
9 achalasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002571
10 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
11 fasting hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003162
12 progressive sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000408
13 growth hormone deficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0000824
14 bilateral sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008619
15 thoracic kyphoscoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005659
16 cervical spinal canal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008445
17 prelingual sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000399
18 spondyloepiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002655
19 developmental cataract 33 hallmark (90%) HP:0000519
20 scoliosis 60 33 Very frequent (99-80%) HP:0002650
21 cataract 60 33 Very frequent (99-80%) HP:0000518
22 sensorineural hearing impairment 60 33 Very frequent (99-80%) HP:0000407
23 spinal canal stenosis 60 33 Very frequent (99-80%) HP:0003416
24 nystagmus 33 HP:0000639
25 osteopenia 33 HP:0000938
26 skeletal dysplasia 60 Very frequent (99-80%)
27 depressed nasal bridge 33 HP:0005280
28 flexion contracture 33 HP:0001371
29 long philtrum 33 HP:0000343
30 sensory neuropathy 33 HP:0000763
31 congenital hip dislocation 33 HP:0001374
32 hyporeflexia 33 HP:0001265
33 sensorimotor neuropathy 33 HP:0007141
34 distal sensory impairment 33 HP:0002936
35 congenital cataract 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cataracts

Skeletal Spine:
scoliosis
spinal stenosis

Growth Height:
short stature

Skeletal Pelvis:
congenital hip dislocation

Endocrine Features:
growth hormone deficiency

Head And Neck Ears:
sensorineural hearing loss

Skeletal:
osteopenia
joint contractures

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
long philtrum

Neurologic Peripheral Nervous System:
hyporeflexia
sensorimotor neuropathy
distal sensory impairment
loss of myelinated fibers seen on sural nerve biopsy

Neurologic Central Nervous System:
delayed motor development
atrophy of the pituitary (1 patient)

Head And Neck Mouth:
lack of fungiform papillae (2 patients)

Clinical features from OMIM:

616007

Drugs & Therapeutics for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Search Clinical Trials , NIH Clinical Center for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia

Genetic Tests for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Genetic tests related to Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

# Genetic test Affiliating Genes
1 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 30 IARS2

Anatomical Context for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

MalaCards organs/tissues related to Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

42
Bone, Eye, Pituitary

Publications for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Articles related to Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

# Title Authors Year
1
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. ( 30041933 )
2018
2
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. ( 28328135 )
2017
3
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. ( 25130867 )
2014
4
Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. ( 8409271 )
1993

Variations for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

UniProtKB/Swiss-Prot genetic disease variations for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

76
# Symbol AA change Variation ID SNP ID
1 IARS2 p.Pro909Leu VAR_072591 rs587783070

ClinVar genetic disease variations for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IARS2 NM_018060.3(IARS2): c.2726C> T (p.Pro909Leu) single nucleotide variant Pathogenic rs587783070 GRCh38 Chromosome 1, 220143109: 220143109
2 IARS2 NM_018060.3(IARS2): c.2726C> T (p.Pro909Leu) single nucleotide variant Pathogenic rs587783070 GRCh37 Chromosome 1, 220316451: 220316451
3 IARS2 NM_018060.3(IARS2): c.1504A> C (p.Ile502Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 220287680: 220287680
4 IARS2 NM_018060.3(IARS2): c.1504A> C (p.Ile502Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 220114338: 220114338

Expression for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Search GEO for disease gene expression data for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia.

Pathways for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Pathways related to Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia according to KEGG:

38
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

GO Terms for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

Sources for Cataracts, Growth Hormone Deficiency, Sensory Neuropathy,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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