ORPHA:436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Synonyms: CAGSSS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | CAGSSS |
| fr | Syndrome de cataracte-insuffisance somatotrope-neuropathie sensorielle-surdité neurosensorielle-dysplasie squelettique | CAGSSS · Syndrome de cataracte-déficit en hormone de croissance-neuropathie sensorielle-surdité neurosensorielle-dysplasie squelettique |
| de | Katarakt-Wachstumshormonmangel-sensorische Neuropathie-sensorineurale Schwerhörigkeit-Skelettdysplasie-Syndrom | = en |
| es | Síndrome de catarata-deficiencia de hormona de crecimiento-neuropatía sensitiva-hipoacusia neurosensorial-displasia esquelética | = en |
| it | Sindrome cataratta-deficit dell'ormone della crescita-neuropatia sensoriale-sordità neurosensoriale-displasia scheletrica | = en |
| nl | Cataract - deficiëntie van groeihormoon - sensorische neuropathie - sensorineuraal gehoorverlies - skeletdysplasie-syndroom | = en |
| pt | Síndrome de catarata-deficiência de hormona de crescimento-neuropatia sensitiva-perda auditiva neurossensorial-displasia esquelética | |
| pl | Zespół zaćmy, niedoboru hormonu wzrostu, neuropatii czuciowej, czuciowo-nerwowej utraty słuchu i dysplazji szkieletowej | = en |
| cs | Syndrom zahrnující kataraktu, deficit růstového hormonu, senzorickou neuropatii, senzorineurální ztrátu sluchu a kostní dysplázii | = en |
| uk | Синдром катаракти-дефіциту гормону росту-сенсорної нейропатії-сенсоневральної приглухуватості-скелетної дисплазії | = en |
| zh | 白内障-生长激素缺乏症-感觉神经病-感觉神经性听力减退-骨骼发育不良综合征 | = en |
| tr | Katarakt-büyüme hormonu eksikliği-duyusal nöropati-sensörinöral işitme kaybı-iskelet displazi sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616007 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Z | NTBT | attributed | validated |
| MONDO | 0014455 | E | validated | |
| UMLS | C4014942 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:156643Genetic endocrine growth disease
rare genetic diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:90692Rare endocrine growth disease
rare endocrine diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IARS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29685 | ENSG00000067704 | 612801 | 1q41 | isoleucyl-tRNA synthetase 2, mitochondrial | 25130867[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25130867[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25130867[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2015-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002571 | Achalasia | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000518 | Cataract | |
| HP:0008445 | Cervical spinal canal stenosis | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000519 | Developmental cataract | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0002857 | Genu valgum | |
| HP:0002827 | Hip dislocation | |
| HP:0001270 | Motor delay | |
| HP:0000160 | Narrow mouth | |
| HP:0007470 | Periarticular subcutaneous nodules | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000399 | Prelingual sensorineural hearing impairment | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0011220 | Prominent forehead | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0002655 | Spondyloepiphyseal dysplasia | |
| HP:0000574 | Thick eyebrow | |
| HP:0005659 | Thoracic kyphoscoliosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25130867[PMID]_8409271[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436174
- This record as JSON: /data/d/436174.json