Ataxia - pancytopenia

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIA-PANCYTOPENIA SYNDROME
Myelocerebellar disorder
Number of Symptoms 30
OrphanetNr: 2585
OMIM Id: 159550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Medullar disease
 -Rare neurologic disease
Rare genetic medullar disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
(HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
3
(HPO:0002317) Unsteady gait 45 / 7739
4
(HPO:0001251) Ataxia 413 / 7739
5
(HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
6
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
7
(HPO:0006801) Hyperactive deep tendon reflexes 21 / 7739
8
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
10
(HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
11
(HPO:0001310) Dysmetria 76 / 7739
12
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
13
(HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
14
(HPO:0010701) Abnormal immunoglobulin level Occasional [Orphanet] 49 / 7739
15
(HPO:0011869) Abnormal platelet function Occasional [Orphanet] 12 / 7739
16
(HPO:0004820) Acute myelomonocytic leukemia 2 / 7739
17
(HPO:0001876) Pancytopenia 89 / 7739
18
(HPO:0002488) Acute leukemia Frequent [Orphanet] 29 / 7739
19
(HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
20
(HPO:0004311) Abnormality of macrophages Frequent [Orphanet] 7 / 7739
21
(HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
22
(HPO:0001908) Hypoplastic anemia 2 / 7739
23
(HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
24
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
(OMIM) Decreased bone marrow mitotic activity 1 / 7739
26
(OMIM) Bilateral Babinski reflexes 1 / 7739
27
(HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
28
(OMIM) Monosomy 7 mosaicism 1 / 7739
29
(OMIM) Cerebellar atrophy on CT scan 1 / 7739
30
(HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Li et al. (1978, 1981) described a family with ataxia and pancytopenia. The propositus, the youngest of a sibship of 5, had cerebellar ataxia, developed hypoplastic anemia at age 3 years, and died of acute myelomonocytic leukemia at ...
Molecular genetics OMIM Tsangaris et al. (2008) identified a de novo heterozygous mutation in the TINF2 gene (604319.0002) in an 18-month-old girl who presented with pancytopenia and ataxia. The diagnosis was consistent with dyskeratosis congenita.