MORM syndrome
Synonyms: Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MORM syndrome | Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome |
| fr | Syndrome MORM | Syndrome de déficience intellectuelle-obésité du tronc-dystrophie rétinienne-micropénis |
| de | MORM-Syndrom | Intelligenzminderung - stammbetonte Adipositas - Netzhautdystrophie - Mikropenis |
| es | Síndrome MORM | Discapacidad intelectual-obesidad troncal-distrofia retiniana-micropene |
| it | Sindrome MORM | Deficit cognitivo - obesità del tronco - distrofia retinica - micropene · Ritardo mentale - obesità del tronco - distrofia retinica - micropene |
| nl | MORM-syndroom | Intellectuele achterstand - rompobesitas - retinale dystrofie - micropenis · Mentale retardatie - rompobesitas - retinale dystrofie - micropenis |
| pt | Síndrome MORM | |
| pl | Zespół MORM | Niepełnosprawność intelektualna - otyłość - dystrofia siatkówki - mikropenis |
| cs | MORM syndrom | Syndrom zahrnující mentální retardaci, trunkální obezitu, retinální dystrofii a mikropenis |
| uk | МОРМ-синдром | Синдром інтелектуальної недостатності-трункулярного ожиріння-дистрофії сітківки- мікропеніса |
| zh | MORM综合征 | 智力障碍-躯干型肥胖-视网膜营养不良-小阴茎综合征 |
| tr | MORM sendromu | Zihinsel yetersizlik-trunkal obezite-retina distrofi-mikropenis sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610156 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0012423 | E | validated | |
| MeSH | C536984 | E | validated | |
| UMLS | C1857802 | E | validated | |
| GARD | 10121 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:156165Retinal ciliopathy
rare genetic diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| INPP5E | Disease-causing germline mutation(s) in | Assessed | HGNC:21474 | ENSG00000148384 | 613037 | 9q34.3 | inositol polyphosphate-5-phosphatase E | 19668215[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2021-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0000054 | Micropenis | |
| HP:0001956 | Truncal obesity | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000518 | Cataract | |
| HP:0000752 | Hyperactivity | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002465 | Poor speech | |
| HP:0007675 | Progressive night blindness | |
| HP:0001105 | Retinal atrophy | |
| HP:0000556 | Retinal dystrophy | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| Excluded (0%) | ||
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 31173343[PMID]_16493448[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75858
- This record as JSON: /data/d/75858.json