ORPHA:99646
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Synonyms: MC-HGA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | MC-HGA |
| fr | Chondromatose métaphysaire avec acidurie D-2-hydroxyglutarique | = en |
| de | Metaphysäre Chondromatose mit D-2-Hydroxy-Glutarazidurie | = en |
| es | Condromatosis metafisaria con aciduria D-2-hidroxiglutárica | = en |
| it | Condromatosi metafisaria con aciduria D-2-idrossiglutarica | = en |
| nl | Metafysaire chondromatose met D-2-hydroxyglutaaracidurie | = en |
| pt | Condromatose metafisária com acidúria D-2-hidroxiglutárica | = en |
| pl | Chondromatoza przynasadowa z acydurią D-2-hydroksyglutarową | Chrzęstniakowatość przynasadowa z kwasicą D-2-hydroksyglutarową |
| cs | Metafyzární chondromatóza s D-2-hydroxyglutarovou acidurií | = en |
| uk | Метафізарний хондроматоз з D-2-гідроксиглутаровою ацидурією | = en |
| zh | 干骺端软骨瘤病伴D-2-羟基戊二酸尿症 | |
| tr | D-2-hidroksiglutarik asidüri ile seyreden metafizer kondromatozis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614875 | E | validated | |
| ICD-10 | Q78.8 | NTBT | specific | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0013941 | E | validated | |
| UMLS | C3553958 | 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 (1):
- ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99647Cheirospondyloenchondromatosis moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDH1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 22025298[PMID] |
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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.
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HPO phenotypes
71 annotations · validated 2021-10-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012321 | D-2-hydroxyglutaric aciduria | |
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0005868 | Metaphyseal enchondromatosis | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0003016 | Metaphyseal widening | |
| HP:0005701 | Multiple enchondromatosis | |
| Frequent (79-30%) | ||
| HP:0001367 | Abnormal joint morphology | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003301 | Irregular vertebral endplates | |
| HP:0030295 | Metaphyseal chondromatosis of femur | |
| HP:0030296 | Metaphyseal chondromatosis of radius | |
| HP:0030294 | Metaphyseal chondromatosis of tibia | |
| HP:0030297 | Metaphyseal chondromatosis of ulna | |
| HP:0003021 | Metaphyseal cupping | |
| HP:0000926 | Platyspondyly | |
| HP:0009803 | Short phalanx of finger | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0007361 | Abnormality of the pons | |
| HP:0007375 | Abnormality of the septum pellucidum | |
| HP:0004820 | Acute myelomonocytic leukemia | |
| HP:0004242 | Broad carpal bones | |
| HP:0000337 | Broad forehead | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0007486 | Cavernous hemangioma of the face | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0012448 | Delayed myelination | |
| HP:0000519 | Developmental cataract | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000958 | Dry skin | |
| HP:0003029 | Enlargement of the ankles | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002970 | Genu varum | |
| HP:0001263 | Global developmental delay | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0025473 | Hyperpigmented papule | |
| HP:0010576 | Intracranial cystic lesion | |
| HP:0003796 | Irregular iliac crest | |
| HP:0030866 | Large knee | |
| HP:0001601 | Laryngomalacia | |
| HP:0000343 | Long philtrum | |
| HP:0004626 | Lumbar scoliosis | |
| HP:0100764 | Lymphangioma | |
| HP:0000256 | Macrocephaly | |
| HP:0000400 | Macrotia | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0001270 | Motor delay | |
| HP:0002828 | Multiple joint contractures | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0002033 | Poor suck | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002098 | Respiratory distress | |
| HP:0000278 | Retrognathia | |
| HP:0001684 | Secundum atrial septal defect | |
| HP:0100806 | Sepsis | |
| HP:0000914 | Shield chest | |
| HP:0000470 | Short neck | |
| HP:0200035 | Skin plaque | |
| HP:0011681 | Subarterial ventricular septal defect | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0004948 | Vascular tortuosity | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002515 | Waddling gait | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0012766 | Widened cerebral subarachnoid space | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 32166993[PMID]_22025298[PMID]_29744569[PMID]_22639207[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99646
- This record as JSON: /data/d/99646.json