SHRF
MCID: SHR112
MIFTS: 28

Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies (SHRF)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

MalaCards integrated aliases for Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

Name: Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 57 72
Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 58 29 6
Shrf 57 72
Retinitis Pigmentosa-Deafness-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable age at symptom onset (range birth to third decade)
three patients from 2 unrelated german families have been reported (last curated november 2017)


HPO:

31
short stature, hearing loss, retinitis pigmentosa, and distinctive facies:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

OMIM® : 57 SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016). (617763) (Updated 20-May-2021)

MalaCards based summary : Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies, also known as retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, is related to retinitis pigmentosa and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies is EXOSC2 (Exosome Component 2). Affiliated tissues include eye, thalamus and heart, and related phenotypes are nystagmus and strabismus

UniProtKB/Swiss-Prot : 72 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability.

Related Diseases for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Diseases related to Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.9
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 neuroretinitis 9.9
4 retinitis 9.9

Symptoms & Phenotypes for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Human phenotypes related to Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 strabismus 31 very rare (1%) HP:0000486
3 glaucoma 31 very rare (1%) HP:0000501
4 hypothyroidism 31 HP:0000821
5 delayed speech and language development 31 HP:0000750
6 sensorineural hearing impairment 31 HP:0000407
7 short stature 31 HP:0004322
8 broad thumb 31 HP:0011304
9 intellectual disability, mild 31 HP:0001256
10 low-set ears 31 HP:0000369
11 myopia 31 HP:0000545
12 alopecia 31 HP:0001596
13 motor delay 31 HP:0001270
14 corneal dystrophy 31 HP:0001131
15 upslanted palpebral fissure 31 HP:0000582
16 brachydactyly 31 HP:0001156
17 thin upper lip vermilion 31 HP:0000219
18 long philtrum 31 HP:0000343
19 deeply set eye 31 HP:0000490
20 high forehead 31 HP:0000348
21 rod-cone dystrophy 31 HP:0000510
22 sparse hair 31 HP:0008070
23 cerebellar atrophy 31 HP:0001272
24 posteriorly rotated ears 31 HP:0000358
25 broad columella 31 HP:0010761
26 broad nasal tip 31 HP:0000455
27 short palpebral fissure 31 HP:0012745
28 delayed myelination 31 HP:0012448
29 wide nasal base 31 HP:0012810

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
anteverted nares
broad columella
broad nasal tip
wide nasal base

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss

Skin Nails Hair Hair:
alopecia
sparse hair (2 patients)

Head And Neck Mouth:
thin upper lip

Skin Nails Hair Skin:
aged appearance

Cardiovascular Vascular:
hypertension, arterial (2 patients)

Neurologic Central Nervous System:
intellectual disability, mild
cerebellar atrophy
delayed myelination
speech delay
dysmyelination
more
Head And Neck Eyes:
myopia
deep-set eyes
short palpebral fissures
upslanting palpebral fissures
nystagmus (1 patient)
more
Head And Neck Face:
long philtrum
high forehead

Skeletal Hands:
broad thumbs
brachydactyly, broad terminal phalanges

Growth Height:
short stature (-2.4 to -4.8 sd)

Endocrine Features:
hypothyroidism (in 2 patients)
diabetes mellitus type 2, childhood-onset (1 patient)

Clinical features from OMIM®:

617763 (Updated 20-May-2021)

Drugs & Therapeutics for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Search Clinical Trials , NIH Clinical Center for Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies

Genetic Tests for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Genetic tests related to Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 29 EXOSC2

Anatomical Context for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

MalaCards organs/tissues related to Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

40
Eye, Thalamus, Heart

Publications for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Articles related to Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

# Title Authors PMID Year
1
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. 57 6
26843489 2016
2
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 61
33463720 2021
3
Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. 61
31628467 2020
4
A MULTIVARIATE PROGNOSTIC SCORE FOR PREDICTING MORTALITY OF ACQUIRED IMMUNODEFICIENCY SYNDROME PATIENTS WITH HYPOXEMIC RESPIRATORY FAILURE AND PNEUMOCYSTIS JIROVECI PNEUMONIA. 61
31599877 2019
5
Generation of linearly polarized orbital angular momentum modes in a side-hole ring fiber with tunable topology numbers. 61
27464176 2016
6
Using patient-specific hemodynamic response function in epileptic spike analysis of human epilepsy: a study based on EEG-fNIRS. 61
26619785 2016
7
Increased Na⁺/Ca²⁺ exchanger expression/activity constitutes a point of inflection in the progression to heart failure of hypertensive rats. 61
24781001 2014
8
Baroreflex control of heart rate and renin release in SHR following administration of felodipine, an antihypertensive Ca2+ antagonist. 61
2455110 1987

Variations for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

ClinVar genetic disease variations for Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXOSC2 NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val) SNV Pathogenic 446202 rs537467155 GRCh37: 9:133569267-133569267
GRCh38: 9:130693880-130693880
2 EXOSC2 NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp) SNV Pathogenic 446203 rs756204866 GRCh37: 9:133577618-133577618
GRCh38: 9:130702231-130702231
3 EXOSC2 NM_014285.7(EXOSC2):c.803T>G (p.Ile268Ser) SNV Uncertain significance 1032616 GRCh37: 9:133579082-133579082
GRCh38: 9:130703695-130703695

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies:

72
# Symbol AA change Variation ID SNP ID
1 EXOSC2 p.Gly30Val VAR_080552 rs537467155
2 EXOSC2 p.Gly198Asp VAR_080553 rs756204866

Expression for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Search GEO for disease gene expression data for Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies.

Pathways for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

GO Terms for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

Sources for Short Stature, Hearing Loss, Retinitis Pigmentosa, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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