X-linked sideroblastic anemia - ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: ASAT
Number of Symptoms 26
OrphanetNr: 2802
OMIM Id: 301310
ICD-10: D64.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional sideroblastic anemia
 -Rare genetic disease
 -Rare hematologic disease
Unspecified mitochondrial disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
X-linked cerebellar ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
2
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
3
 (HPO:0002169) Clonus 37 / 7739
4
 (HPO:0001260) Dysarthria 329 / 7739
5
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
6
 (HPO:0001310) Dysmetria 76 / 7739
7
 (HPO:0003487) Babinski sign 179 / 7739
8
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
10
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
11
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
12
 (HPO:0002470) Nonprogressive cerebellar ataxia 4 / 7739
13
 (HPO:0002080) Intention tremor 44 / 7739
14
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
15
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
16
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
17
 (HPO:0001924) Sideroblastic anemia 12 / 7739
18
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
19
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
20
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
21
 (OMIM) Ringed sideroblasts on bone marrow examination 1 / 7739
22
 (HPO:0003621) Juvenile onset 105 / 7739
23
 (OMIM) Increased free erythrocyte protoporphyrin 1 / 7739
24
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
25
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
26
 (OMIM) Lack of excessive parenchymal iron storage 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pagon et al. (1985) reported 2 apparently unrelated families with this combination and concluded that they could not distinguish between close linkage (e.g., small deletion) and pleiotropic effects of a mutant allele at a single locus. Affected males ...
Molecular genetics OMIM In a family with 5 affected males with ASAT, Allikmets et al. (1999) demonstrated a missense mutation, ile400 to met (300135.0001), in the ABCB7 gene. The gene in question, an ATP-binding cassette (ABC) transporter, encodes a protein that ...