Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

General Information (adopted from Orphanet):

Synonyms, Signs: MOCODB
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
MOCOD type B
Number of Symptoms 42
OrphanetNr: 308393
OMIM Id: 252160
ICD-10: E72.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000804) Xanthine nephrolithiasis 4 / 7739
2
 (HPO:0003166) Increased urinary taurine 5 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000276) Long face 109 / 7739
5
 (HPO:0000256) Macrocephaly 298 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0000343) Long philtrum 262 / 7739
9
 (HPO:0000293) Full cheeks 85 / 7739
10
 (HPO:0002007) Frontal bossing 366 / 7739
11
 (HPO:0012471) Thick vermilion border 115 / 7739
12
 (HPO:0001083) Ectopia lentis 45 / 7739
13
 (HPO:0000639) Nystagmus 555 / 7739
14
 (HPO:0011527) Lentiglobus 3 / 7739
15
 (HPO:0008063) Aplasia/Hypoplasia of the lens 3 / 7739
16
 (HPO:0001142) Lenticonus 4 / 7739
17
 (HPO:0003447) Axonal loss 11 / 7739
18
 (HPO:0011096) Peripheral demyelination 28 / 7739
19
 (HPO:0001276) Hypertonia 317 / 7739
20
 (HPO:0002179) Opisthotonus 35 / 7739
21
 (HPO:0002510) Spastic tetraplegia 54 / 7739
22
 (HPO:0003739) Myoclonic spasms 7 / 7739
23
 (HPO:0011968) Feeding difficulties 240 / 7739
24
 (HPO:0001510) Growth delay 295 / 7739
25
 (HPO:0010934) Xanthinuria 4 / 7739
26
 (HPO:0011814) Increased urinary hypoxanthine 2 / 7739
27
 (HPO:0003537) Hypouricemia 13 / 7739
28
 (HPO:0003570) Molybdenum cofactor deficiency 3 / 7739
29
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
30
 (OMIM) Decreased xanthine dehydrogenase activity 2 / 7739
31
 (OMIM) Increased urinary S-sulfocysteine 2 / 7739
32
 (OMIM) Absent or delayed psychomotor development, severe 2 / 7739
33
 (HPO:0003676) Progressive disorder 148 / 7739
34
 (OMIM) Intractable seizures 12 / 7739
35
 (OMIM) Elongated palpebral fissures 2 / 7739
36
 (HPO:0002119) Ventriculomegaly 253 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (HPO:0002059) Cerebral atrophy 171 / 7739
39
 (HPO:0002171) Gliosis 48 / 7739
40
 (OMIM) Decreased sulfite oxidase activity 2 / 7739
41
 (OMIM) Cystic lysis of the deep white matter 2 / 7739
42
 (OMIM) Asymmetric skull 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die ...
Clinical Description OMIM Leimkuhler et al. (2005) reported a 9-month-old Mexican infant with an unusual phenotype of molybdenum cofactor deficiency involving static encephalopathy, microcephaly, and dysmorphic features, but no evidence of seizure disorder, lens dislocation, or progressive psychomotor retardation. On examination, ...
Genotype-Phenotype Correlations OMIM Johnson et al. (2001) reported a 4-year-old patient with mild features of molybdenum cofactor deficiency. The patient had mild developmental delay, but no seizures or lens dislocation. Genetic analysis identified compound heterozygous mutations in the MOSC2 gene (Q6X; ...
Molecular genetics OMIM In 7 of 8 patients with MOCOD who were negative for mutations in the MOCS1 gene and in whom fibroblast studies confirmed complementation group B, Reiss et al. (1999) identified biallelic mutations in the MOCS2 gene (see, e.g., ...