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 57 75 29 6 40 73
Cagsss 57 59 75
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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). Affiliated tissues include bone, eye and pituitary, and related phenotypes are genu valgum and scoliosis

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,...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 scoliosis 59 32 Very frequent (99-80%) HP:0002650
3 cataract 59 32 Very frequent (99-80%) HP:0000518
4 sensorineural hearing impairment 59 32 Very frequent (99-80%) HP:0000407
5 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 periarticular subcutaneous nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0007470
8 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
9 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
10 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
11 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
12 achalasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002571
13 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
14 spinal canal stenosis 59 32 Very frequent (99-80%) HP:0003416
15 progressive sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000408
16 growth hormone deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000824
17 congenital cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000519
18 thoracic kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005659
19 bilateral sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008619
20 fasting hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003162
21 cervical spinal canal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008445
22 prelingual sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000399
23 spondyloepiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002655
24 nystagmus 32 HP:0000639
25 osteopenia 32 HP:0000938
26 skeletal dysplasia 59 Very frequent (99-80%)
27 depressed nasal bridge 32 HP:0005280
28 flexion contracture 32 HP:0001371
29 long philtrum 32 HP:0000343
30 sensory neuropathy 32 HP:0000763
31 congenital hip dislocation 32 HP:0001374
32 hyporeflexia 32 HP:0001265
33 sensorimotor neuropathy 32 HP:0007141
34 distal sensory impairment 32 HP:0002936

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 29 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:

41
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

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:

75
# 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

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,...

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

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

3 CDC
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17 ExPASy
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28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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