Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HSD17B10 DEFICIENCY
3-&#64
HSD10 DEFICIENCY
2-&#64
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
mhbd deficiency
HSD deficiency
SCHAD deficiency
17b-hydroxysteroid dehydrogenase deficiency type 10
Number of Symptoms 25
OrphanetNr: 35123
OMIM Id: 300438
ICD-10: E71.3
UMLs: C0342785
C1845517
MeSH: C536080
MedDRA:
Snomed: 237998000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: x linked recessive
X-linked dominant inheritance
[Omim]
Age of onset: Neonatal/infancy
Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000546) Retinal degeneration 61 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
 (HPO:0001266) Choreoathetosis 57 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002344) Progressive neurologic deterioration 27 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0002376) Developmental regression 74 / 7739
9
 (HPO:0000750) Delayed speech and language development 197 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0000711) Restlessness 18 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
13
 (HPO:0003128) Lactic acidosis 116 / 7739
14
 (HPO:0001943) Hypoglycemia 131 / 7739
15
 (HPO:0001942) Metabolic acidosis 81 / 7739
16
 (HPO:0001324) Muscle weakness 859 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0010547) Muscle flaccidity 466 / 7739
19
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
 (OMIM) Increased urinary 2-methyl-3 hydroxybutyrate 1 / 7739
21
 (OMIM) Increased urinary tiglyglycine 1 / 7739
22
 (HPO:0003593) Infantile onset 249 / 7739
23
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
24
 (OMIM) MRI shows mild frontotemporal atrophy 1 / 7739
25
 (OMIM) Decreased activity of 2-methyl-3-hydroxybutyryl Co-A dehydrogenase 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zschocke et al. (2000) reported a male patient who was born at term and recovered well from an episode of metabolic decompensation and lactic acidosis. Psychomotor development was only moderately delayed at age 1 year, but he subsequently ...
Molecular genetics OMIM In 3 male patients with 2-methyl-3-hydroxybutyryl-CoA deficiency, Ofman et al. (2003) identified hemizygosity for a mutation in the HSD17B10 gene (300256.0001). A female patient also carried the mutation in the heterozygous state. The patients had previously been reported ...