ORPHA:505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Synonyms: Mucopolysaccharidosis-like plus disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | Mucopolysaccharidosis-like plus disease |
| fr | Mucopolysaccharidose-like avec cardiopathie congénitale et atteintes hématopoïétiques | |
| de | Mukopolysaccharidose-ähnliches Syndrom mit kongenitalen Herzfehlern und hämatopoetischen Störungen | Mukopolysaccharidose plus-Krankheit |
| es | Síndrome similar a mucopolisacaridosis con defectos cardíacos congénitos y trastornos hematopoyéticos | Enfermedad similar a mucopolisacaridosis plus |
| it | Sindrome simil-mucopolisaccaridosi con cardiopatie congenite e anomalie dell'ematopoiesi | |
| nl | Mucopolysacharidose-achtig syndroom met congenitale hartdefecten en hematopoëtische stoornissen | Mucopolysacharidose-achtige plus-ziekte |
| pt | Síndrome mucopolissacaridose-like com defeitos cardíacos congénitos e doenças hematopoiéticas | |
| pl | Zespół podobny do mukopolisacharydoz z wadami wrodzonymi serca i zaburzeniami hematopoetycznymi | = en |
| cs | Syndrom podobný mukopolysacharidóze s vrozenými srdečními vadami a hematopoetickými poruchami | Nemoc podobná mukopolysacharidóze plus |
| uk | Мукополісахаридозоподібний синдром з вродженими вадами серця та порушеннями кровотворення | Хвороба, подібна до мукополісахаридозу плюс |
| zh | 粘多糖病样综合征伴有先天性心脏缺陷和造血功能障碍 | 粘多糖病样附加性病变 |
| tr | Doğumsal kalp defektleri ve hematopoetik bozukluklar ile seyreden mukopolisakkaridoz benzeri sendrom | Mukopolisakkaridoz benzeri artı hastalık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617303 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015012 | E | validated | |
| UMLS | C5568800 | 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 (5):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VPS33A | Disease-causing germline mutation(s) in | Assessed | HGNC:18179 | ENSG00000139719 | 610034 | 12q24.31 | VPS33A core subunit of CORVET and HOPS complexes | 28013294[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 28013294[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28013294[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
71 annotations · validated 2020-01-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001903 | Anemia | |
| HP:0000280 | Coarse facial features | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0001371 | Flexion contracture | |
| HP:0001263 | Global developmental delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000093 | Proteinuria | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001344 | Absent speech | |
| HP:0006536 | Airway obstruction | |
| HP:0001631 | Atrial septal defect | |
| HP:0001635 | Congestive heart failure | |
| HP:0002159 | Heparan sulfate excretion in urine | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002540 | Inability to walk | |
| HP:0001387 | Joint stiffness | |
| HP:0001882 | Leukopenia | |
| HP:0000158 | Macroglossia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000648 | Optic atrophy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0002098 | Respiratory distress | |
| HP:0001649 | Tachycardia | |
| HP:0001072 | Thickened skin | |
| HP:0003541 | Urinary glycosaminoglycan excretion | |
| Occasional (29-5%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001552 | Barrel-shaped chest | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0012444 | Brain atrophy | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0002514 | Cerebral calcification | |
| HP:0000509 | Conjunctivitis | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0006191 | Deep palmar crease | |
| HP:0012448 | Delayed myelination | |
| HP:0000105 | Enlarged kidney | |
| HP:0000286 | Epicanthus | |
| HP:0000293 | Full cheeks | |
| HP:0012597 | Heavy proteinuria | |
| HP:0100790 | Hernia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000998 | Hypertrichosis | |
| HP:0001252 | Hypotonia | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0000527 | Long eyelashes | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0008454 | Lumbar kyphosis | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000639 | Nystagmus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0000768 | Pectus carinatum | |
| HP:0000629 | Periorbital fullness | |
| HP:0011220 | Prominent forehead | |
| HP:0100806 | Sepsis | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0010307 | Stridor | |
| HP:0000506 | Telecanthus | |
| HP:0100874 | Thick hair | |
| HP:0012471 | Thick vermilion border | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0005180 | Tricuspid regurgitation | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 31070736[PMID]_31936524[PMID]_28013294[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/505248
- This record as JSON: /data/d/505248.json