MCID: HYP714
MIFTS: 23

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypotonia, Infantile, with Psychomotor Retardation and...

MalaCards integrated aliases for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3:

Name: Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 57 75 6
Ihprf3 57 75
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies, Type 3 40
Tbck-Related Intellectual Disability Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth


HPO:

32
hypotonia, infantile, with psychomotor retardation and characteristic facies 3:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotonia, Infantile, with Psychomotor Retardation and...

OMIM : 57 Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419). (616900)

MalaCards based summary : Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3, also known as ihprf3, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 is TBCK (TBC1 Domain Containing Kinase). Affiliated tissues include brain and eye, and related phenotypes are macroglossia and gingival overgrowth

UniProtKB/Swiss-Prot : 75 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3: An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals.

Related Diseases for Hypotonia, Infantile, with Psychomotor Retardation and...

Diseases related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Hypotonia, Infantile, with Psychomotor Retardation and...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
developmental regression
cerebellar hypoplasia
cerebral atrophy
poor speech
more
Head And Neck Nose:
anteverted nares
bulbous nose
high nasal bridge

Head And Neck Face:
sloping forehead
coarse facies
bitemporal narrowing

Muscle Soft Tissue:
hypotonia, severe

Respiratory:
respiratory insufficiency due to hypotonia

Head And Neck Mouth:
macroglossia
thick lips
gingival hyperplasia
tented upper lip

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Eyes:
cortical visual impairment
deep-set eyes
arched eyebrows

Head And Neck Head:
macrocephaly (in some patients)

Abdomen Gastrointestinal:
feeding difficulties due to hypotonia


Clinical features from OMIM:

616900

Human phenotypes related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3:

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 very rare (1%) HP:0000158
2 gingival overgrowth 32 very rare (1%) HP:0000212
3 macrocephaly 32 occasional (7.5%) HP:0000256
4 coarse facial features 32 HP:0000280
5 sloping forehead 32 HP:0000340
6 narrow forehead 32 HP:0000341
7 bulbous nose 32 HP:0000414
8 prominent nasal bridge 32 HP:0000426
9 anteverted nares 32 very rare (1%) HP:0000463
10 deeply set eye 32 very rare (1%) HP:0000490
11 seizures 32 very rare (1%) HP:0001250
12 hyporeflexia 32 HP:0001265
13 encephalopathy 32 HP:0001298
14 cerebellar vermis hypoplasia 32 HP:0001320
15 cerebellar hypoplasia 32 HP:0001321
16 cerebral atrophy 32 HP:0002059
17 hypoplasia of the corpus callosum 32 HP:0002079
18 ventriculomegaly 32 very rare (1%) HP:0002119
19 exaggerated cupid's bow 32 very rare (1%) HP:0002263
20 developmental regression 32 very rare (1%) HP:0002376
21 poor speech 32 HP:0002465
22 abnormality of the periventricular white matter 32 HP:0002518
23 highly arched eyebrow 32 very rare (1%) HP:0002553
24 severe muscular hypotonia 32 very rare (1%) HP:0006829
25 dysplastic corpus callosum 32 HP:0006989
26 tented upper lip vermilion 32 HP:0010804
27 gastrostomy tube feeding in infancy 32 very rare (1%) HP:0011471
28 brain atrophy 32 HP:0012444
29 thick vermilion border 32 HP:0012471
30 extra-axial cerebrospinal fluid accumulation 32 very rare (1%) HP:0012510
31 small basal ganglia 32 HP:0012697
32 reduced brain n-acetyl aspartate level by mrs 32 very rare (1%) HP:0012708
33 profound global developmental delay 32 very rare (1%) HP:0012736
34 cortical visual impairment 32 very rare (1%) HP:0100704

Drugs & Therapeutics for Hypotonia, Infantile, with Psychomotor Retardation and...

Search Clinical Trials , NIH Clinical Center for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

Genetic Tests for Hypotonia, Infantile, with Psychomotor Retardation and...

Anatomical Context for Hypotonia, Infantile, with Psychomotor Retardation and...

MalaCards organs/tissues related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3:

41
Brain, Eye

Publications for Hypotonia, Infantile, with Psychomotor Retardation and...

Articles related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3:

# Title Authors Year
1
TBCK-related intellectual disability syndrome: Case study of two patients. ( 27748029 )
2017

Variations for Hypotonia, Infantile, with Psychomotor Retardation and...

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3:

75
# Symbol AA change Variation ID SNP ID
1 TBCK p.Arg511His VAR_077816 rs869320711
2 TBCK p.Leu551Pro VAR_077817

ClinVar genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBCK NM_033115.4(TBCK): c.1708+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs374319146 GRCh38 Chromosome 4, 106194717: 106194717
2 TBCK NM_033115.4(TBCK): c.1708+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs374319146 GRCh37 Chromosome 4, 107115874: 107115874
3 TBCK NM_001163435.2(TBCK): c.376C> T (p.Arg126Ter) single nucleotide variant Pathogenic/Likely pathogenic rs575822089 GRCh38 Chromosome 4, 106262103: 106262103
4 TBCK NM_001163435.2(TBCK): c.376C> T (p.Arg126Ter) single nucleotide variant Pathogenic/Likely pathogenic rs575822089 GRCh37 Chromosome 4, 107183260: 107183260
5 TBCK NM_001163435.2(TBCK): c.1363A> T (p.Lys455Ter) single nucleotide variant Pathogenic rs376699648 GRCh37 Chromosome 4, 107156512: 107156512
6 TBCK NM_001163435.2(TBCK): c.1363A> T (p.Lys455Ter) single nucleotide variant Pathogenic rs376699648 GRCh38 Chromosome 4, 106235355: 106235355
7 TBCK NM_001163436.2(TBCK): c.1532G> A (p.Arg511His) single nucleotide variant Pathogenic rs869320711 GRCh38 Chromosome 4, 106233045: 106233045
8 TBCK NM_001163436.2(TBCK): c.1532G> A (p.Arg511His) single nucleotide variant Pathogenic rs869320711 GRCh37 Chromosome 4, 107154202: 107154202
9 TBCK NM_001163435.2(TBCK): c.831_832insTA (p.Pro278Tyrfs) insertion Pathogenic rs869320769 GRCh38 Chromosome 4, 106247238: 106247239
10 TBCK NM_001163435.2(TBCK): c.831_832insTA (p.Pro278Tyrfs) insertion Pathogenic rs869320769 GRCh37 Chromosome 4, 107168395: 107168396
11 TBCK NM_001163436.2(TBCK): c.2060-2A> G single nucleotide variant Likely pathogenic rs62321379 GRCh38 Chromosome 4, 106171272: 106171272
12 TBCK NM_001163436.2(TBCK): c.2060-2A> G single nucleotide variant Likely pathogenic rs62321379 GRCh37 Chromosome 4, 107092429: 107092429
13 TBCK NM_001163435.2(TBCK): c.803_806delTGAA (p.Met268Argfs) deletion Pathogenic rs771481304 GRCh37 Chromosome 4, 107168421: 107168424
14 TBCK NM_001163435.2(TBCK): c.803_806delTGAA (p.Met268Argfs) deletion Pathogenic rs771481304 GRCh38 Chromosome 4, 106247264: 106247267
15 TBCK NM_001163436.2(TBCK): c.1370delA (p.Asn457Thrfs) deletion Pathogenic rs746860249 GRCh38 Chromosome 4, 106235348: 106235348
16 TBCK NM_001163436.2(TBCK): c.1370delA (p.Asn457Thrfs) deletion Pathogenic rs746860249 GRCh37 Chromosome 4, 107156505: 107156505
17 TBCK NM_001163436.2(TBCK): c.783G> T (p.Arg261Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 107168444: 107168444
18 TBCK NM_001163436.2(TBCK): c.783G> T (p.Arg261Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 106247287: 106247287

Expression for Hypotonia, Infantile, with Psychomotor Retardation and...

Search GEO for disease gene expression data for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3.

Pathways for Hypotonia, Infantile, with Psychomotor Retardation and...

GO Terms for Hypotonia, Infantile, with Psychomotor Retardation and...

Sources for Hypotonia, Infantile, with Psychomotor Retardation and...

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