Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

General Information (adopted from Orphanet):

Synonyms, Signs: MOCODA
SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
MOCOD type A
Number of Symptoms 54
OrphanetNr: 308386
OMIM Id: 252150
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:0011943) Increased urinary thiosulfate 1 / 7739
2
 (HPO:0003166) Increased urinary taurine 5 / 7739
3
 (HPO:0011935) Decreased urinary urate 2 / 7739
4
 (HPO:0003606) Absent urinary urothione 1 / 7739
5
 (HPO:0011942) Increased urinary sulfite 2 / 7739
6
 (HPO:0000804) Xanthine nephrolithiasis 4 / 7739
7
 (HPO:0003359) Decreased urinary sulfate 2 / 7739
8
 (HPO:0000293) Full cheeks 85 / 7739
9
 (HPO:0000252) Microcephaly 832 / 7739
10
 (HPO:0003196) Short nose 264 / 7739
11
 (HPO:0000276) Long face 109 / 7739
12
 (HPO:0002007) Frontal bossing 366 / 7739
13
 (HPO:0000343) Long philtrum 262 / 7739
14
 (HPO:0000316) Hypertelorism 644 / 7739
15
 (HPO:0012471) Thick vermilion border 115 / 7739
16
 (HPO:0000256) Macrocephaly 298 / 7739
17
 (HPO:0011527) Lentiglobus 3 / 7739
18
 (HPO:0001142) Lenticonus 4 / 7739
19
 (HPO:0001083) Ectopia lentis 45 / 7739
20
 (HPO:0008063) Aplasia/Hypoplasia of the lens 3 / 7739
21
 (HPO:0000639) Nystagmus 555 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0001276) Hypertonia 317 / 7739
24
 (HPO:0001285) Spastic tetraparesis 29 / 7739
25
 (HPO:0003739) Myoclonic spasms 7 / 7739
26
 (HPO:0002510) Spastic tetraplegia 54 / 7739
27
 (HPO:0011096) Peripheral demyelination 28 / 7739
28
 (HPO:0003447) Axonal loss 11 / 7739
29
 (HPO:0001250) Seizures 1245 / 7739
30
 (HPO:0002179) Opisthotonus 35 / 7739
31
 (HPO:0011968) Feeding difficulties 240 / 7739
32
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
33
 (HPO:0001510) Growth delay 295 / 7739
34
 (HPO:0003534) Reduced xanthine dehydrogenase activity 2 / 7739
35
 (HPO:0010934) Xanthinuria 4 / 7739
36
 (HPO:0011814) Increased urinary hypoxanthine 2 / 7739
37
 (HPO:0003643) Sulfite oxidase deficiency 2 / 7739
38
 (HPO:0002932) Aldehyde oxidase deficiency 1 / 7739
39
 (HPO:0003570) Molybdenum cofactor deficiency 3 / 7739
40
 (HPO:0003537) Hypouricemia 13 / 7739
41
 (OMIM) Absent or delayed psychomotor development, severe 2 / 7739
42
 (HPO:0002171) Gliosis 48 / 7739
43
 (OMIM) Intractable seizures 12 / 7739
44
 (HPO:0002059) Cerebral atrophy 171 / 7739
45
 (OMIM) Asymmetric skull 6 / 7739
46
 (OMIM) Cystic lysis of the deep white matter 2 / 7739
47
 (OMIM) Decreased xanthine dehydrogenase activity 2 / 7739
48
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
49
 (OMIM) Increased urinary S-sulfocysteine 2 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
51
 (HPO:0002119) Ventriculomegaly 253 / 7739
52
 (OMIM) Elongated palpebral fissures 2 / 7739
53
 (OMIM) Decreased sulfite oxidase activity 2 / 7739
54
 (HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels ...
Diagnosis OMIM Wadman et al. (1983) called attention to a very simple screening test for urinary sulfite, which was originally developed for the semiquantitative determination of sulfite in wine and fruit juices and is available as a 'strip test.' Aukett ...
Clinical Description OMIM Duran et al. (1978) reported a female infant with a combination of sulfite oxidase deficiency (272300) and xanthine oxidase deficiency (278300). She presented at age 10 days with poor feeding, tonic-clonic seizures, EEG abnormalities, and dysmorphic features, including ...
Molecular genetics OMIM In 2 unrelated patients with molybdenum cofactor deficiency of complementation group A, Reiss et al. (1998) identified 2 different homozygous truncating mutations in the MOCS1 gene (603707.0001 and 603707.0002); one mutation occurred in the MOCS1A transcript and the ...