MCID: CTR140
MIFTS: 22

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

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Bone diseases, Metabolic diseases, Endocrine diseases, Fetal 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 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, is also known as cagsss. 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 pituitary, bone and eye, and related phenotypes are narrow mouth and prelingual sensorineural hearing impairment

Description from OMIM: 616007

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

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

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

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

Skeletal Pelvis:
congenital hip dislocation

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

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,...

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
Pituitary, Bone, Eye

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

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,...

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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