KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: SAPOSIN A DEFICIENCY
Number of Symptoms 17
OrphanetNr:
OMIM Id: 611722
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001276) Hypertonia 317 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0002922) Increased CSF protein 27 / 7739
4
(HPO:0002093) Respiratory insufficiency 410 / 7739
5
(HPO:0002871) Central apnea 10 / 7739
6
(HPO:0002878) Respiratory failure 57 / 7739
7
(HPO:0002283) Global brain atrophy 12 / 7739
8
(HPO:0007266) Cerebral dysmyelination 13 / 7739
9
(OMIM) Saposin A deficiency 1 / 7739
10
(HPO:0003819) Death in childhood 42 / 7739
11
(OMIM) Diffuse white matter dysmyelination 1 / 7739
12
(OMIM) Decreased activity of galactocerebrosidase 1 / 7739
13
(OMIM) Neurologic regression around age 3 months 1 / 7739
14
(OMIM) Loss of spontaneous movements 1 / 7739
15
(OMIM) Early death 13 / 7739
16
(HPO:0003593) Infantile onset 249 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Spiegel et al. (2005) reported a child, born of consanguineous Arab parents, with saposin A deficiency. She developed normally until age 3.5 months, at which time she showed rapid neurologic deterioration and loss of acquired milestones. At age ...
Molecular genetics OMIM In an infant with saposin A deficiency, Spiegel et al. (2005) identified a homozygous mutation in the PSAP gene (176801.0009).