ORPHA:64
Alström syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alström syndrome | |
| fr | Syndrome d'Alström | |
| de | Alström-Syndrom | |
| es | Síndrome de Alström | |
| it | Sindrome di Alström | |
| nl | Syndroom van Alström | |
| pt | Síndrome Alström | |
| pl | Zespół Alströma | |
| cs | Alströmův syndrom | |
| uk | Синдром Альстрема | |
| zh | Alstr÷m 综合征 | |
| tr | Alström sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203800 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008763 | E | validated | |
| MeSH | D056769 | E | validated | |
| UMLS | C0268425 | E | validated | |
| GARD | 5787 | E | validated | |
| MedDRA | 10068783 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (14):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:181376Rare diabetes mellitus type 2
rare endocrine diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3087Retinohepatoendocrinologic syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALMS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:428 | ENSG00000116127 | 606844 | 2p13.1 | ALMS1 centrosome and basal body associated protein | 20301444[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT]_22043170[PMID] |
| Cases/families | 950 cases | Worldwide | Case(s) | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
117 annotations · validated 2020-05-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000618 | Blindness | |
| HP:0000548 | Cone/cone-rod dystrophy | |
| HP:0003077 | Hyperlipidemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000855 | Insulin resistance | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0000388 | Otitis media | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0000556 | Retinal dystrophy | |
| HP:0004322 | Short stature | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0031865 | Abnormal liver physiology | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0000518 | Cataract | |
| HP:0004469 | Chronic bronchitis | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0025383 | Dorsocervical fat pad | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0004438 | Hyperostosis frontalis interna | |
| HP:0000822 | Hypertension | |
| HP:0002808 | Kyphosis | |
| HP:0004626 | Lumbar scoliosis | |
| HP:0000543 | Optic disc pallor | |
| HP:0001763 | Pes planus | |
| HP:0000613 | Photophobia | |
| HP:0002591 | Polyphagia | |
| HP:0008373 | Puberty and gonadal disorders | |
| HP:0010863 | Receptive language delay | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001328 | Specific learning disability | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0001956 | Truncal obesity | |
| HP:0005978 | Type II diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0025496 | Abnormal coronary artery physiology | |
| HP:0001751 | Abnormal vestibular function | |
| HP:0011073 | Abnormality of dental color | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000729 | Autistic behavior | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0001394 | Cirrhosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0031507 | Decreased circulating thyroxine level | |
| HP:0012041 | Decreased fertility in males | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008734 | Decreased testicular size | |
| HP:0000490 | Deeply set eye | |
| HP:0025336 | Delayed ability to sit | |
| HP:0025335 | Delayed ability to stand | |
| HP:0031936 | Delayed ability to walk | |
| HP:0025488 | Detrusor sphincter dyssynergia | |
| HP:0011510 | Drusen | |
| HP:0100518 | Dysuria | |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | |
| HP:0410019 | Epigastric pain | |
| HP:0002040 | Esophageal varix | |
| HP:0002213 | Fine hair | |
| HP:0002292 | Frontal balding | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000230 | Gingivitis | |
| HP:0000099 | Glomerulonephritis | |
| HP:0000771 | Gynecomastia | |
| HP:0001399 | Hepatic failure | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001397 | Hepatic steatosis | |
| HP:0012115 | Hepatitis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001007 | Hirsutism | |
| HP:0010790 | Hyoplasia of the Leydig cells | |
| HP:0002311 | Incoordination | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0000858 | Irregular menstruation | |
| HP:0000054 | Micropenis | |
| HP:0001685 | Myocardial fibrosis | |
| HP:0000798 | Oligozoospermia | |
| HP:0000147 | Polycystic ovaries | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0001409 | Portal hypertension | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0000832 | Primary hypothyroidism | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0012786 | Recurrent cystitis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0002098 | Respiratory distress | |
| HP:0000311 | Round face | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| HP:0009381 | Short finger | |
| HP:0001831 | Short toe | |
| HP:0001744 | Splenomegaly | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0012860 | Testicular fibrosis | |
| HP:0009894 | Thickened ears | |
| HP:0009804 | Tooth agenesis | |
| HP:0000020 | Urinary incontinence | |
| HP:0000016 | Urinary retention | |
| HP:0000012 | Urinary urgency | |
| HP:0001123 | Visual field defect | |
| Very rare (<4-1%) | ||
| HP:0001251 | Ataxia | |
| HP:0100543 | Cognitive impairment | |
| HP:0012569 | Delayed menarche | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0003326 | Myalgia | |
| HP:0001733 | Pancreatitis | |
| HP:0010465 | Precocious puberty in females | |
| HP:0002360 | Sleep abnormality | |
| HP:0011147 | Typical absence seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17940554[PMID_20301444[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64
- This record as JSON: /data/d/64.json