loading...| Preferred Name |
Adrenoleukodystrophy |
|
| Synonyms |
Siemerling Creutzfeldt Disease |
|
| Definitions |
An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000326 |
|
| altLabel |
Siemerling Creutzfeldt Disease Bronze Schilder Disease Leukodystrophy, Melanodermic Schilder Addison Complex X ALD (X Linked Adrenoleukodystrophy) Siemerling-Creutzfeldt Disease X-ALD ALD (Adrenoleukodystrophy) Schilder-Addison Complex X Linked Adrenoleukodystrophy Addison Disease and Cerebral Sclerosis Melanodermic Leukodystrophy X-Linked Adrenoleukodystrophy Adrenoleukodystrophy, X-Linked X ALD Leukodystrophies, Melanodermic Adrenomyeloneuropathy X-ALD (X-Linked Adrenoleukodystrophy) |
|
| AN |
do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1527231 C0162309 |
|
| DC |
1 |
|
| definition |
An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). |
|
| DX |
19910101 |
|
| FX |
D018528 |
|
| HN |
1991(1983) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1991; see CEREBRAL SCLEROSIS, DIFFUSE 1983-1990 |
|
| Mapped from | ||
| MDA |
19820427 |
|
| MMR |
20180630 |
|
| MN |
C18.452.132.100.362.250 C18.452.648.189.362.250 C10.597.606.360.455.124 C16.320.565.663.100 C18.452.132.100.084 C18.452.648.189.084 C19.053.500.270 C10.314.400.250 C16.320.322.500.124 C18.452.648.663.100 C16.320.400.525.124 C10.228.140.163.100.362.250 C16.320.565.189.084 C10.228.140.695.625.250 C10.228.140.163.100.084 C16.320.565.189.362.250 |
|
| notation |
D000326 |
|
| prefLabel |
Adrenoleukodystrophy |
|
| TERMUI |
T366221 T000880985 T366223 T001071 T845603 T843481 T001072 T366222 T000880983 T000880984 T000880986 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1993) GHR (2014) NLM (1983) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D000309 http://purl.bioontology.org/ontology/MESH/D018901 http://purl.bioontology.org/ontology/MESH/D038901 |