SHRF
MCID: SHR112
MIFTS: 22

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 58 76 6
Shrf 58 76
Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 60
Retinitis Pigmentosa-Deafness-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 60

Characteristics:

OMIM:

58
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:

33
short stature, hearing loss, retinitis pigmentosa, and distinctive facies:
Onset and clinical course variable expressivity


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies, is also known as shrf. An important gene associated with Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies is EXOSC2 (Exosome Component 2). Affiliated tissues include brain, eye and bone, and related phenotypes are nystagmus and strabismus

UniProtKB/Swiss-Prot : 76 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...

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

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

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 very rare (1%) HP:0000639
2 strabismus 33 very rare (1%) HP:0000486
3 glaucoma 33 very rare (1%) HP:0000501
4 low-set ears 33 HP:0000369
5 hypothyroidism 33 HP:0000821
6 delayed speech and language development 33 HP:0000750
7 sensorineural hearing impairment 33 HP:0000407
8 broad thumb 33 HP:0011304
9 intellectual disability, mild 33 HP:0001256
10 long philtrum 33 HP:0000343
11 corneal dystrophy 33 HP:0001131
12 myopia 33 HP:0000545
13 alopecia 33 HP:0001596
14 motor delay 33 HP:0001270
15 deeply set eye 33 HP:0000490
16 upslanted palpebral fissure 33 HP:0000582
17 brachydactyly 33 HP:0001156
18 broad nasal tip 33 HP:0000455
19 high forehead 33 HP:0000348
20 rod-cone dystrophy 33 HP:0000510
21 cerebellar atrophy 33 HP:0001272
22 sparse hair 33 HP:0008070
23 broad columella 33 HP:0010761
24 short palpebral fissure 33 HP:0012745
25 posteriorly rotated ears 33 HP:0000358
26 wide nasal base 33 HP:0012810
27 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss

Neurologic Central Nervous System:
intellectual disability, mild
cerebellar atrophy
delayed myelination
dysmyelination
speech delay
more
Head And Neck Eyes:
myopia
deep-set eyes
short palpebral fissures
upslanting palpebral fissures
nystagmus (1 patient)
more
Head And Neck Mouth:
thin upper lip

Skin Nails Hair Skin:
aged appearance

Cardiovascular Vascular:
hypertension, arterial (2 patients)

Head And Neck Nose:
anteverted nares
broad nasal tip
broad columella
wide nasal base

Head And Neck Face:
long philtrum
high forehead

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

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

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...

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

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

42
Brain, Eye, Bone, Thalamus

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 EXOSC2 p.Gly30Val VAR_080552 rs537467155
2 EXOSC2 p.Gly198Asp VAR_080553

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXOSC2 NM_014285.6(EXOSC2): c.89G> T (p.Gly30Val) single nucleotide variant Pathogenic rs537467155 GRCh37 Chromosome 9, 133569267: 133569267
2 EXOSC2 NM_014285.6(EXOSC2): c.89G> T (p.Gly30Val) single nucleotide variant Pathogenic rs537467155 GRCh38 Chromosome 9, 130693880: 130693880
3 EXOSC2 NM_014285.6(EXOSC2): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs756204866 GRCh38 Chromosome 9, 130702231: 130702231
4 EXOSC2 NM_014285.6(EXOSC2): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs756204866 GRCh37 Chromosome 9, 133577618: 133577618

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....