ORPHA:96180

Maternal uniparental disomy of chromosome 4 syndrome

Synonyms: UPD(4)mat

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Maternal uniparental disomy of chromosome 4 syndrome	UPD(4)mat
fr	Syndrome de disomie uniparentale maternelle du chromosome 4	UPD(4) maternelle · UPD(4)mat
de	Uniparentale Disomie 4, maternale	UPD(4)mat · UPDM 4
es	Síndrome de disomía uniparental materna del cromosoma 4	= en
it	Sindrome disomia uniparentale materna del cromosoma 4	= en
nl	Maternale uniparentale disomie van chromosoom 4-syndroom	= en
pt	Dissomia uniparental de origem materna, cromossoma 4
pl	Zespół jednorodzicielskiej disomii chromosomu 4 pochodzenia matczynego	= en
cs	Maternální uniparentální dizomie chromozomu 4	= en
uk	Материнська уніпарентна дисомія хромосоми 4	= en
zh	母源性4号染色体单亲二体	母源性UPD(4)
tr	4. kromozomun maternal uniparental dizomisi	UPD (4) mat

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q99.8	NTBT	attributed	validated
ICD-11	LD45.0	NTBT	index	validated
MONDO	0019911	E		validated
UMLS	C4707719	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:98153Maternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

39 annotations · validated 2017-05-15

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0008181	Abetalipoproteinemia
HP:0001877	Abnormal erythrocyte morphology
HP:0000707	Abnormality of the nervous system
HP:0001927	Acanthocytosis
HP:0001251	Ataxia
HP:0003707	Calf muscle pseudohypertrophy
HP:0010875	Chaddock reflex
HP:0003563	Decreased LDL cholesterol concentration
HP:0004325	Decreased body weight
HP:0000750	Delayed speech and language development
HP:0000716	Depression
HP:0002014	Diarrhea
HP:0001310	Dysmetria
HP:0003236	Elevated circulating creatine kinase concentration
HP:0002630	Fat malabsorption
HP:0003146	Hypocholesterolemia
HP:0011900	Hypofibrinogenemia
HP:0002600	Hyporeflexia of lower limbs
HP:0010831	Impaired proprioception
HP:0002495	Impaired vibratory sensation
HP:0001249	Intellectual disability
HP:0006785	Limb-girdle muscular dystrophy
HP:0004905	Low levels of vitamin A
HP:0100513	Low levels of vitamin E
HP:0011892	Low levels of vitamin K
HP:0004395	Malnutrition
HP:0003722	Neck flexor weakness
HP:0000662	Nyctalopia
HP:0000580	Pigmentary retinopathy
HP:0008897	Postnatal growth retardation
HP:0000510	Rod-cone dystrophy
HP:0004322	Short stature
HP:0002064	Spastic gait
HP:0001123	Visual field defect
Very rare (<4-1%)
HP:0000873	Diabetes insipidus
HP:0000011	Neurogenic bladder
HP:0000648	Optic atrophy
HP:0000407	Sensorineural hearing impairment
HP:0100651	Type I diabetes mellitus

Annotation source: 26169481[PMID]_25994769[PMID]_22150066[PMID]_21480868[PMID]_16331669[PMID]_10446076[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/96180
This record as JSON: /data/d/96180.json