MCID: HYP711
MIFTS: 22

Hypotonia, Ataxia, and Delayed Development Syndrome

Categories: Genetic diseases

Aliases & Classifications for Hypotonia, Ataxia, and Delayed Development Syndrome

MalaCards integrated aliases for Hypotonia, Ataxia, and Delayed Development Syndrome:

Name: Hypotonia, Ataxia, and Delayed Development Syndrome 57 75 29 6
Hadds 57 75
Yttrium-90 Macroaggregated Albumin 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
dysmorphic features are variable
de novo mutations (in most patients)


HPO:

32
hypotonia, ataxia, and delayed development syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypotonia, Ataxia, and Delayed Development Syndrome

OMIM : 57 Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017). (617330)

MalaCards based summary : Hypotonia, Ataxia, and Delayed Development Syndrome, is also known as hadds. An important gene associated with Hypotonia, Ataxia, and Delayed Development Syndrome is EBF3 (Early B Cell Factor 3). Affiliated tissues include eye, and related phenotypes are cryptorchidism and micropenis

UniProtKB/Swiss-Prot : 75 Hypotonia, ataxia, and delayed development syndrome: An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux.

Related Diseases for Hypotonia, Ataxia, and Delayed Development Syndrome

Symptoms & Phenotypes for Hypotonia, Ataxia, and Delayed Development Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
synophrys
astigmatism
downslanting palpebral fissures
more
Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
global developmental delay
dysmetria
more
Head And Neck Face:
prominent forehead
long face
deep philtrum
triangular face
myopathic facies
more
Chest Breasts:
inverted nipples

Genitourinary Bladder:
vesicoureteral reflux

Head And Neck Mouth:
thin upper lip
downturned corners of the mouth

Head And Neck Head:
microcephaly (in some patients)

Genitourinary External Genitalia Female:
hypoplasia of the labia majora

Head And Neck Ears:
low-set ears
posteriorly rotated ears
overfolded helices

Abdomen Gastrointestinal:
dysphagia
gastroesophageal reflux

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
testicular failure

Head And Neck Nose:
broad nasal tip
high nasal bridge
short anteverted nostrils

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
stereotypic behaviors

Prenatal Manifestations Movement:
reduced fetal movements (in some patients)


Clinical features from OMIM:

617330

Human phenotypes related to Hypotonia, Ataxia, and Delayed Development Syndrome:

32 (show all 42)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 micropenis 32 HP:0000054
3 vesicoureteral reflux 32 HP:0000076
4 thin upper lip vermilion 32 HP:0000219
5 microcephaly 32 occasional (7.5%) HP:0000252
6 long face 32 HP:0000276
7 epicanthus 32 HP:0000286
8 oval face 32 HP:0000300
9 hypertelorism 32 HP:0000316
10 triangular face 32 HP:0000325
11 short chin 32 HP:0000331
12 high forehead 32 HP:0000348
13 posteriorly rotated ears 32 HP:0000358
14 low-set ears 32 HP:0000369
15 overfolded helix 32 HP:0000396
16 prominent nasal bridge 32 HP:0000426
17 broad nasal tip 32 HP:0000455
18 astigmatism 32 HP:0000483
19 strabismus 32 HP:0000486
20 deeply set eye 32 HP:0000490
21 downslanted palpebral fissures 32 HP:0000494
22 synophrys 32 HP:0000664
23 stereotypy 32 HP:0000733
24 delayed speech and language development 32 HP:0000750
25 intellectual disability 32 HP:0001249
26 dysarthria 32 HP:0001260
27 global developmental delay 32 HP:0001263
28 cerebellar atrophy 32 occasional (7.5%) HP:0001272
29 generalized hypotonia 32 HP:0001290
30 dysmetria 32 HP:0001310
31 decreased fetal movement 32 occasional (7.5%) HP:0001558
32 deep philtrum 32 HP:0002002
33 dysphagia 32 HP:0002015
34 gastroesophageal reflux 32 HP:0002020
35 myopathic facies 32 HP:0002058
36 apraxia 32 HP:0002186
37 downturned corners of mouth 32 HP:0002714
38 inverted nipples 32 HP:0003186
39 short stature 32 occasional (7.5%) HP:0004322
40 prominent forehead 32 HP:0011220
41 horizontal eyebrow 32 HP:0011228
42 broad chin 32 HP:0011822

Drugs & Therapeutics for Hypotonia, Ataxia, and Delayed Development Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotonia, Ataxia, and Delayed Development Syndrome

Cochrane evidence based reviews: yttrium-90 macroaggregated albumin

Genetic Tests for Hypotonia, Ataxia, and Delayed Development Syndrome

Genetic tests related to Hypotonia, Ataxia, and Delayed Development Syndrome:

# Genetic test Affiliating Genes
1 Hypotonia, Ataxia, and Delayed Development Syndrome 29 EBF3

Anatomical Context for Hypotonia, Ataxia, and Delayed Development Syndrome

MalaCards organs/tissues related to Hypotonia, Ataxia, and Delayed Development Syndrome:

41
Eye

Publications for Hypotonia, Ataxia, and Delayed Development Syndrome

Variations for Hypotonia, Ataxia, and Delayed Development Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Ataxia, and Delayed Development Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 EBF3 p.Asn66Asp VAR_078033 rs1057519518Hypotonia,
2 EBF3 p.Tyr141Cys VAR_078034 rs1057519519Hypotonia,
3 EBF3 p.Arg163Leu VAR_078036 rs1057519389Hypotonia,
4 EBF3 p.Arg163Pro VAR_078037 rs1057519389Hypotonia,
5 EBF3 p.Arg163Gln VAR_078038 rs1057519389Hypotonia,
6 EBF3 p.Gly171Asp VAR_078039 rs1057519437Hypotonia,
7 EBF3 p.Pro177Leu VAR_078040 rs869312668
8 EBF3 p.Lys193Asn VAR_078041 rs1057519520Hypotonia,
9 EBF3 p.Arg209Trp VAR_078042 rs779003155

ClinVar genetic disease variations for Hypotonia, Ataxia, and Delayed Development Syndrome:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 EBF3 NM_001005463.2(EBF3): c.530C> T (p.Pro177Leu) single nucleotide variant Pathogenic rs869312668 GRCh37 Chromosome 10, 131755546: 131755546
2 EBF3 NM_001005463.2(EBF3): c.530C> T (p.Pro177Leu) single nucleotide variant Pathogenic rs869312668 GRCh38 Chromosome 10, 129957282: 129957282
3 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
4 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
5 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
6 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
7 EBF3 NM_001005463.2(EBF3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs779003155 GRCh37 Chromosome 10, 131676043: 131676043
8 EBF3 NM_001005463.2(EBF3): c.625C> T (p.Arg209Trp) single nucleotide variant Pathogenic rs779003155 GRCh38 Chromosome 10, 129877779: 129877779
9 EBF3 NM_001005463.2(EBF3): c.196A> G (p.Asn66Asp) single nucleotide variant Pathogenic rs1057519518 GRCh38 Chromosome 10, 129963462: 129963462
10 EBF3 NM_001005463.2(EBF3): c.196A> G (p.Asn66Asp) single nucleotide variant Pathogenic rs1057519518 GRCh37 Chromosome 10, 131761726: 131761726
11 EBF3 NM_001005463.2(EBF3): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs1057519519 GRCh38 Chromosome 10, 129958997: 129958997
12 EBF3 NM_001005463.2(EBF3): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs1057519519 GRCh37 Chromosome 10, 131757261: 131757261
13 EBF3 NM_001005463.2(EBF3): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
14 EBF3 NM_001005463.2(EBF3): c.488G> C (p.Arg163Pro) single nucleotide variant Pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
15 EBF3 NM_001005463.2(EBF3): c.579G> T (p.Lys193Asn) single nucleotide variant Pathogenic rs1057519520 GRCh38 Chromosome 10, 129877825: 129877825
16 EBF3 NM_001005463.2(EBF3): c.579G> T (p.Lys193Asn) single nucleotide variant Pathogenic rs1057519520 GRCh37 Chromosome 10, 131676089: 131676089
17 EBF3 NM_001005463.2(EBF3): c.280_283delGAGA (p.Glu94Lysfs) deletion Pathogenic rs1057519521 GRCh38 Chromosome 10, 129963375: 129963378
18 EBF3 NM_001005463.2(EBF3): c.280_283delGAGA (p.Glu94Lysfs) deletion Pathogenic rs1057519521 GRCh37 Chromosome 10, 131761639: 131761642
19 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh37 Chromosome 10, 131676052: 131676052
20 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh38 Chromosome 10, 129877788: 129877788
21 EBF3 NM_001005463.2(EBF3): c.554G> A (p.Arg185Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 131755522: 131755522
22 EBF3 NM_001005463.2(EBF3): c.554G> A (p.Arg185Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 129957258: 129957258
23 EBF3 NM_001005463.2(EBF3): c.593G> A (p.Cys198Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 129877811: 129877811
24 EBF3 NM_001005463.2(EBF3): c.593G> A (p.Cys198Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 131676075: 131676075

Expression for Hypotonia, Ataxia, and Delayed Development Syndrome

Search GEO for disease gene expression data for Hypotonia, Ataxia, and Delayed Development Syndrome.

Pathways for Hypotonia, Ataxia, and Delayed Development Syndrome

GO Terms for Hypotonia, Ataxia, and Delayed Development Syndrome

Sources for Hypotonia, Ataxia, and Delayed Development Syndrome

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