MCID: HYP723
MIFTS: 24

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:

Name: Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 57 75 29 6
Ihprf1 57 75
Ihprf 57 75
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies, Type 1 40
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 73
Infantile Neuroaxonal Neurodegeneration with Facial Dysmophism 75
Innfd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or in infancy
some patients never achieve sitting


HPO:

32
hypotonia, infantile, with psychomotor retardation and characteristic facies 1:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1: A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies.

MalaCards based summary : Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1, also known as ihprf1, is related to hypotonia, infantile, with psychomotor retardation and characteristic facies 2 and hypotonia, infantile, with psychomotor retardation and characteristic facies 3, and has symptoms including constipation and abnormal pyramidal signs. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 is NALCN (Sodium Leak Channel, Non-Selective). Affiliated tissues include eye and skeletal muscle, and related phenotypes are low-set ears and nystagmus

OMIM : 57 Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). (615419)

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

Diseases related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 10.9
2 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.9
3 hypotonia-speech impairment-severe cognitive delay syndrome 10.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
large ears

Neurologic Central Nervous System:
hyperreflexia
spastic tetraplegia
pyramidal signs
seizures (in some patients)
truncal hypotonia
more
Skeletal Spine:
scoliosis

Head And Neck Head:
microcephaly
brachycephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Muscle Soft Tissue:
muscle atrophy
hypotonia, infantile, severe

Skeletal Feet:
pes varus

Neurologic Peripheral Nervous System:
neuroaxonal dystrophy (in some patients)
sural nerve biopsy shows unmyelinated axons (in some patients)
spheroid formation (in some patients)
sural nerve edema (in some patients)
decreased motor nerve conduction velocity (in some patients)

Head And Neck Eyes:
nystagmus
strabismus
poor eye contact
optic atrophy (in some patients)

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Chest External Features:
pectus carinatum

Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
triangular face

Head And Neck Mouth:
wide mouth
thin upper lip

Head And Neck Nose:
slender nose

Growth Other:
postnatal growth retardation (in some patients)


Clinical features from OMIM:

615419

Human phenotypes related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 nystagmus 32 HP:0000639
3 seizures 32 HP:0001250
4 hyperreflexia 32 HP:0001347
5 constipation 32 HP:0002019
6 scoliosis 32 HP:0002650
7 abnormal pyramidal signs 32 HP:0007256
8 macrotia 32 HP:0000400
9 global developmental delay 32 HP:0001263
10 pectus carinatum 32 HP:0000768
11 short nose 32 HP:0003196
12 microcephaly 32 HP:0000252
13 smooth philtrum 32 HP:0000319
14 optic atrophy 32 HP:0000648
15 gastroesophageal reflux 32 HP:0002020
16 brachycephaly 32 HP:0000248
17 spastic tetraplegia 32 HP:0002510
18 prominent forehead 32 HP:0011220
19 skeletal muscle atrophy 32 HP:0003202
20 micrognathia 32 HP:0000347
21 feeding difficulties 32 HP:0011968
22 strabismus 32 HP:0000486
23 cryptorchidism 32 HP:0000028
24 postnatal growth retardation 32 HP:0008897
25 decreased motor nerve conduction velocity 32 HP:0003431
26 wide mouth 32 HP:0000154
27 thin upper lip vermilion 32 HP:0000219
28 triangular face 32 HP:0000325
29 muscular hypotonia of the trunk 32 HP:0008936
30 poor eye contact 32 HP:0000817
31 slender nose 32 HP:0000417

UMLS symptoms related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:


constipation, abnormal pyramidal signs

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

Search Clinical Trials , NIH Clinical Center for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1

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

Genetic tests related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:

# Genetic test Affiliating Genes
1 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 29 NALCN

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

MalaCards organs/tissues related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:

41
Eye, Skeletal Muscle

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

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

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:

75
# Symbol AA change Variation ID SNP ID
1 NALCN p.Trp1287Leu VAR_070599 rs587777068

ClinVar genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NALCN NM_052867.3(NALCN): c.1924C> T (p.Gln642Ter) single nucleotide variant Pathogenic rs587777038 GRCh37 Chromosome 13, 101797163: 101797163
2 NALCN NM_052867.3(NALCN): c.1924C> T (p.Gln642Ter) single nucleotide variant Pathogenic rs587777038 GRCh38 Chromosome 13, 101144812: 101144812
3 NALCN NM_052867.3(NALCN): c.1489delT (p.Tyr497Thrfs) deletion Pathogenic rs869025188 GRCh37 Chromosome 13, 101881881: 101881881
4 NALCN NM_052867.3(NALCN): c.1489delT (p.Tyr497Thrfs) deletion Pathogenic rs869025188 GRCh38 Chromosome 13, 101229530: 101229530
5 NALCN NM_052867.3(NALCN): c.3860G> T (p.Trp1287Leu) single nucleotide variant Pathogenic rs587777068 GRCh37 Chromosome 13, 101733903: 101733903
6 NALCN NM_052867.3(NALCN): c.3860G> T (p.Trp1287Leu) single nucleotide variant Pathogenic rs587777068 GRCh38 Chromosome 13, 101081552: 101081552
7 NALCN NM_052867.3(NALCN): c.4236C> A (p.Tyr1412Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 101068789: 101068789
8 NALCN NM_052867.3(NALCN): c.4236C> A (p.Tyr1412Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 101721141: 101721141
9 NALCN NM_052867.3(NALCN): c.3269G> A (p.Trp1090Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 101747925: 101747925
10 NALCN NM_052867.3(NALCN): c.3269G> A (p.Trp1090Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 101095574: 101095574
11 NALCN NM_052867.3(NALCN): c.410C> T (p.Ser137Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 102029373: 102029373
12 NALCN NM_052867.3(NALCN): c.410C> T (p.Ser137Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 101377022: 101377022

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

Search GEO for disease gene expression data for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1.

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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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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