Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Number of Symptoms 60
OrphanetNr: 88618
OMIM Id: 613752
ICD-10: E72.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases - PMID: 20852937 [IBIS]
Inheritance: Autosomal recessive
- PMID: 20852937 [IBIS]
Age of onset: Neonatal
Infancy
- PMID: 20852937 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of methionine cycle and sulfur amino acid metabolism
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0006892) Frontotemporal cerebral atrophy 16435181 IBIS 3 / 7739
2
 (HPO:0012448) Delayed myelination 16435181 IBIS 51 / 7739
3
 (HPO:0000486) Strabismus 16435181 IBIS 576 / 7739
4
 (HPO:0001263) Global developmental delay 16435181 IBIS 853 / 7739
5
 (HPO:0001290) Generalized hypotonia 15024124; 16435181 IBIS 51 / 7739
6
 (HPO:0001385) Hip dysplasia 16435181 IBIS 242 / 7739
7
 (HPO:0002643) Neonatal respiratory distress 16435181 IBIS 22 / 7739
8
 (HPO:0010529) Echolalia 16736098 IBIS 20 / 7739
9
 (HPO:0000722) Obsessive-compulsive behavior 16736098 IBIS 35 / 7739
10
 (HPO:0000736) Short attention span 16736098 IBIS 16 / 7739
11
 (MedDRA:10013486) Distractibility 16736098 IBIS 2 / 7739
12
 (HPO:0003236) Elevated serum creatine phosphokinase 26527160; 20852937; 16736098 IBIS 214 / 7739
13
 (HPO:0011342) Mild global developmental delay 16736098 IBIS 10 / 7739
14
 (HPO:0001324) Muscle weakness 26527160; 16736098 IBIS 859 / 7739
15
 (HPO:0003235) Hypermethioninemia 20852937; 16736098 IBIS 8 / 7739
16
 (HPO:0012443) Abnormality of brain morphology 20852937 IBIS 45 / 7739
17
 (HPO:0002171) Gliosis 20852937 IBIS 48 / 7739
18
 (HPO:0011400) Abnormal CNS myelination 20852937 IBIS 10 / 7739
19
 (HPO:0006850) Hypoplasia of the ventral pons 20852937 IBIS 3 / 7739
20
 (HPO:0002013) Vomiting 20852937 IBIS 191 / 7739
21
 (HPO:0002020) Gastroesophageal reflux 20852937 IBIS 101 / 7739
22
 (HPO:0001790) Nonimmune hydrops fetalis 20852937 IBIS 15 / 7739
23
 (HPO:0000218) High palate 20852937 IBIS 356 / 7739
24
 (HPO:0001662) Bradycardia 20852937 IBIS 41 / 7739
25
 (HPO:0002104) Apnea 20852937 IBIS 106 / 7739
26
 (MedDRA:10051139) Foetal heart rate abnormal 20852937 IBIS 2 / 7739
27
 (HPO:0001640) Cardiomegaly 20852937 IBIS 81 / 7739
28
 (HPO:0002910) Elevated hepatic transaminases 26527160; 20852937 IBIS 158 / 7739
29
 (HPO:0002878) Respiratory failure 20852937 IBIS 57 / 7739
30
 (HPO:0008947) Infantile muscular hypotonia 20852937 IBIS 482 / 7739
31
 (HPO:0002202) Pleural effusion 20852937 IBIS 22 / 7739
32
 (HPO:0003075) Hypoproteinemia 20852937 IBIS 27 / 7739
33
 (HPO:0003073) Hypoalbuminemia 26527160; 20852937 IBIS 40 / 7739
34
 (HPO:0011900) Hypofibrinogenemia 20852937 IBIS 8 / 7739
35
 (HPO:0003645) Prolonged partial thromboplastin time 20852937 IBIS 20 / 7739
36
 (HPO:0008151) Prolonged prothrombin time 20852937 IBIS 13 / 7739
37
 (HPO:0001928) Abnormality of coagulation 26527160; 20852937 IBIS 44 / 7739
38
 (HPO:0010310) Chylothorax 20852937 IBIS 6 / 7739
39
 (HPO:0001522) Death in infancy 20852937 IBIS 275 / 7739
40
 (HPO:0003198) Myopathy 20852937 IBIS 151 / 7739
41
 (HPO:0001402) Hepatocellular carcinoma 26527160 IBIS 25 / 7739
42
 (MedDRA:10057962) Rheumatoid factor increased 26527160 IBIS 1 / 7739
43
 (HPO:0006254) Elevated alpha-fetoprotein 26527160 IBIS 10 / 7739
44
 (HPO:0012378) Fatigue 26527160 IBIS 50 / 7739
45
 (HPO:0001744) Splenomegaly 26527160 IBIS 337 / 7739
46
 (HPO:0004840) Hypochromic microcytic anemia 26527160 IBIS 15 / 7739
47
 (HPO:0001873) Thrombocytopenia 26527160 IBIS 224 / 7739
48
 (HPO:0002090) Pneumonia 26527160 IBIS 59 / 7739
49
 (HPO:0200123) Chronic hepatitis 15024124 IBIS 4 / 7739
50
 (HPO:0001763) Pes planus 15024124 IBIS 176 / 7739
51
 (HPO:0000565) Esotropia 15024124 IBIS 58 / 7739
52
 (HPO:0001315) Reduced tendon reflexes 15024124 IBIS 160 / 7739
53
 (HPO:0002421) Poor head control 15024124 IBIS 23 / 7739
54
 (MedDRA:10041052) Sluggishness 15024124 IBIS 1 / 7739
55
 (HPO:0001270) Motor delay 15024124 IBIS 322 / 7739
56
 (HPO:0000164) Abnormality of the teeth 291 / 7739
57
 (HPO:0001999) Abnormal facial shape 169 / 7739
58
 (HPO:0001249) Intellectual disability 1089 / 7739
59
 (HPO:0001508) Failure to thrive 454 / 7739
60
 (HPO:0001638) Cardiomyopathy 192 / 7739

Associated genes:

AHCY;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 daughters of Tunisian parents who were not known to be related but came from the same village in Tunisia, Labrune et al. (1990) described hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with ...
Molecular genetics OMIM In a Croatian boy with S-adenosylhomocysteine hydrolase deficiency, Baric et al. (2004) identified compound heterozygosity for 2 mutations in the AHCY gene (180960.0001 and 180960.0002).