MCID: SHR112
MIFTS: 19

Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies

Categories: Genetic diseases, Eye diseases, Ear diseases, Bone diseases, Fetal 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 75 6
Shrf 57 75
Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 59
Retinitis Pigmentosa-Deafness-Premature Aging-Short Stature-Facial Dysmorphism Syndrome 59

Characteristics:

OMIM:

57
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)


Classifications:



External Ids:

OMIM 57 617763
Orphanet 59 ORPHA494439
MeSH 44 D000015

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)

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 thalamus.

UniProtKB/Swiss-Prot : 75 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...

Symptoms via clinical synopsis from OMIM:

57
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:

41
Brain, Eye, Thalamus, Bone

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

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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