MCID: YHV001
MIFTS: 21

You-Hoover-Fong Syndrome

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

Aliases & Classifications for You-Hoover-Fong Syndrome

MalaCards integrated aliases for You-Hoover-Fong Syndrome:

Name: You-Hoover-Fong Syndrome 57 59 75 37 29 6
Yhfs 57 75
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
you-hoover-fong syndrome:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for You-Hoover-Fong Syndrome

UniProtKB/Swiss-Prot : 75 You-Hoover-Fong syndrome: A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : You-Hoover-Fong Syndrome, is also known as yhfs. An important gene associated with You-Hoover-Fong Syndrome is TELO2 (Telomere Maintenance 2). Affiliated tissues include heart, brain and eye, and related phenotypes are microcephaly and hearing impairment

Description from OMIM: 616954

Related Diseases for You-Hoover-Fong Syndrome

Symptoms & Phenotypes for You-Hoover-Fong Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
cortical visual impairment (in some patients)

Cardiovascular Heart:
malformations of the great vessels (1 family)

Neurologic Central Nervous System:
ataxia
spasticity
absent speech
abnormal movements
global developmental delay, profound
more
Skeletal Spine:
kyphoscoliosis

Growth Other:
poor overall growth

Head And Neck Ears:
hearing loss (1 family)


Clinical features from OMIM:

616954

Human phenotypes related to You-Hoover-Fong Syndrome:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 hearing impairment 32 HP:0000365
3 pectus excavatum 32 HP:0000767
4 ataxia 32 HP:0001251
5 spasticity 32 HP:0001257
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 absent speech 32 HP:0001344
9 kyphoscoliosis 32 HP:0002751
10 abnormality of movement 32 HP:0100022
11 cortical visual impairment 32 occasional (7.5%) HP:0100704

Drugs & Therapeutics for You-Hoover-Fong Syndrome

Search Clinical Trials , NIH Clinical Center for You-Hoover-Fong Syndrome

Genetic Tests for You-Hoover-Fong Syndrome

Genetic tests related to You-Hoover-Fong Syndrome:

# Genetic test Affiliating Genes
1 You-Hoover-Fong Syndrome 29 TELO2

Anatomical Context for You-Hoover-Fong Syndrome

MalaCards organs/tissues related to You-Hoover-Fong Syndrome:

41
Heart, Brain, Eye

Publications for You-Hoover-Fong Syndrome

Variations for You-Hoover-Fong Syndrome

UniProtKB/Swiss-Prot genetic disease variations for You-Hoover-Fong Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 TELO2 p.Pro260Leu VAR_077025 rs369656775
2 TELO2 p.Cys367Phe VAR_077026 rs202020308
3 TELO2 p.Arg609His VAR_077027 rs754162070
4 TELO2 p.Asp720Val VAR_077028 rs878853271
5 TELO2 p.Val766Met VAR_077029 rs371675497

ClinVar genetic disease variations for You-Hoover-Fong Syndrome:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TELO2 NM_016111.3(TELO2): c.1100G> T (p.Cys367Phe) single nucleotide variant Pathogenic rs202020308 GRCh37 Chromosome 16, 1550445: 1550445
2 TELO2 NM_016111.3(TELO2): c.1100G> T (p.Cys367Phe) single nucleotide variant Pathogenic rs202020308 GRCh38 Chromosome 16, 1500444: 1500444
3 TELO2 NM_016111.3(TELO2): c.2159A> T (p.Asp720Val) single nucleotide variant Pathogenic rs878853271 GRCh38 Chromosome 16, 1506984: 1506984
4 TELO2 NM_016111.3(TELO2): c.2159A> T (p.Asp720Val) single nucleotide variant Pathogenic rs878853271 GRCh37 Chromosome 16, 1556985: 1556985
5 TELO2 NM_016111.3(TELO2): c.2296G> A (p.Val766Met) single nucleotide variant Pathogenic rs371675497 GRCh38 Chromosome 16, 1507605: 1507605
6 TELO2 NM_016111.3(TELO2): c.2296G> A (p.Val766Met) single nucleotide variant Pathogenic rs371675497 GRCh37 Chromosome 16, 1557606: 1557606
7 TELO2 NM_016111.3(TELO2): c.779C> T (p.Pro260Leu) single nucleotide variant Pathogenic rs369656775 GRCh38 Chromosome 16, 1497457: 1497457
8 TELO2 NM_016111.3(TELO2): c.779C> T (p.Pro260Leu) single nucleotide variant Pathogenic rs369656775 GRCh37 Chromosome 16, 1547458: 1547458
9 TELO2 NM_016111.3(TELO2): c.1826G> A (p.Arg609His) single nucleotide variant Pathogenic/Likely pathogenic rs754162070 GRCh38 Chromosome 16, 1502986: 1502986
10 TELO2 NM_016111.3(TELO2): c.1826G> A (p.Arg609His) single nucleotide variant Pathogenic/Likely pathogenic rs754162070 GRCh37 Chromosome 16, 1552987: 1552987
11 TELO2 NM_016111.3(TELO2): c.514C> T (p.Gln172Ter) single nucleotide variant no interpretation for the single variant rs878853272 GRCh38 Chromosome 16, 1495524: 1495524
12 TELO2 NM_016111.3(TELO2): c.514C> T (p.Gln172Ter) single nucleotide variant no interpretation for the single variant rs878853272 GRCh37 Chromosome 16, 1545525: 1545525
13 TELO2 NM_016111.3(TELO2): c.2034+1G> A single nucleotide variant no interpretation for the single variant rs878853273 GRCh38 Chromosome 16, 1505602: 1505602
14 TELO2 NM_016111.3(TELO2): c.2034+1G> A single nucleotide variant no interpretation for the single variant rs878853273 GRCh37 Chromosome 16, 1555603: 1555603
15 TELO2 NM_016111.3(TELO2): c.1772T> G (p.Val591Gly) single nucleotide variant Likely pathogenic rs142217951 GRCh37 Chromosome 16, 1552933: 1552933
16 TELO2 NM_016111.3(TELO2): c.1772T> G (p.Val591Gly) single nucleotide variant Likely pathogenic rs142217951 GRCh38 Chromosome 16, 1502932: 1502932

Expression for You-Hoover-Fong Syndrome

Search GEO for disease gene expression data for You-Hoover-Fong Syndrome.

Pathways for You-Hoover-Fong Syndrome

GO Terms for You-Hoover-Fong Syndrome

Sources for You-Hoover-Fong Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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