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Methylmalonic acidemia with homocystinuria, type cblX
1 OMIM reference -
1 associated gene
59 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked non-syndromic intellectual deficit
BAP1-related tumor predisposition syndrome
Primary dystonia, DYT6 type
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Dejerine-Sottas syndrome
Spinocerebellar ataxia type 12
Angelman syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Fanconi anemia
Giant cell glioblastoma
Gliosarcoma
Intellectual deficit, X-linked, Siderius type
Microcephalic primordial dwarfism due to ZNF335 deficiency
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Pseudohypoaldosteronism type 2E
Spondylocarpotarsal synostosis
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia with multilineage dysplasia
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Refractory anemia
Refractory anemia with excess blasts
Charcot-Marie-Tooth disease type 2B2
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Zollinger-Ellison syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Methylmalonic aciduria with homocystinuria, type cblX
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HCFC1 P51610300019
No signs/symptoms info available.