GDRM
MCID: GND014
MIFTS: 22

Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy (GDRM)

Categories: Genetic diseases

Aliases & Classifications for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

MalaCards integrated aliases for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy:

Name: Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy 57 72 6
Gdrm 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
male heterozygotes exhibit teratozoospermia and may have reduced fertility (see spgf36, )


HPO:

31
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

UniProtKB/Swiss-Prot : 72 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy: An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay.

MalaCards based summary : Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy, also known as gdrm, is related to gonadal dysgenesis and spermatogenic failure 36. An important gene associated with Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy is PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma). Affiliated tissues include uterus and bone, and related phenotypes are scoliosis and hip dysplasia

OMIM® : 57 GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay (Guran et al., 2019). (618419) (Updated 20-May-2021)

Related Diseases for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Diseases related to Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 9.6 PPP2R3C LOC101927178
2 spermatogenic failure 36 9.5 PPP2R3C LOC101927178

Symptoms & Phenotypes for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Human phenotypes related to Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 hip dysplasia 31 very rare (1%) HP:0001385
3 sensorineural hearing impairment 31 very rare (1%) HP:0000407
4 omphalocele 31 very rare (1%) HP:0001539
5 unilateral renal agenesis 31 very rare (1%) HP:0000122
6 narrow forehead 31 very rare (1%) HP:0000341
7 bifid distal phalanx of the thumb 31 very rare (1%) HP:0009611
8 bifid distal phalanx of toe 31 very rare (1%) HP:0001853
9 agenesis of corpus callosum 31 HP:0001274
10 delayed skeletal maturation 31 HP:0002750
11 smooth philtrum 31 HP:0000319
12 short stature 31 HP:0004322
13 flat face 31 HP:0012368
14 dry skin 31 HP:0000958
15 low-set ears 31 HP:0000369
16 anal atresia 31 HP:0002023
17 overfolded helix 31 HP:0000396
18 highly arched eyebrow 31 HP:0002553
19 long philtrum 31 HP:0000343
20 hypodontia 31 HP:0000668
21 pyloric stenosis 31 HP:0002021
22 convex nasal ridge 31 HP:0000444
23 thin vermilion border 31 HP:0000233
24 underdeveloped nasal alae 31 HP:0000430
25 diastasis recti 31 HP:0001540
26 rod-cone dystrophy 31 HP:0000510
27 broad palm 31 HP:0001169
28 short palm 31 HP:0004279
29 posteriorly rotated ears 31 HP:0000358
30 sparse eyebrow 31 HP:0045075
31 small for gestational age 31 HP:0001518
32 absent axillary hair 31 HP:0002221
33 sparse pubic hair 31 HP:0002225
34 limited elbow extension 31 HP:0001377
35 scaling skin 31 HP:0040189
36 elevated circulating follicle stimulating hormone level 31 HP:0008232
37 elevated circulating luteinizing hormone level 31 HP:0011969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
smooth philtrum
flat face
long philtrum
narrow forehead (in some patients)
metopic ridge (in some patients)

Skin Nails Hair Skin:
dry skin
scaly skin
single horizontal palmar crease

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis

Abdomen External Features:
diastasis recti
omphalocele (in some patients)

Skin Nails Hair Hair:
absent axillary hair
sparse pubic hair
frontal upsweep
unruly scalp hair
unusual hair whorls

Head And Neck Nose:
beaked nose
hypoplastic alae nasi
'squashed down' appearance of nose, mild (in some patients)

Skeletal:
delayed bone age

Growth Weight:
low birth weight

Neurologic Central Nervous System:
corpus callosum agenesis
punctate calcifications
neuromotor delay
plaques in bilateral ventricular ependyma

Head And Neck Head:
flat vertex

Genitourinary External Genitalia Female:
hyoplastic labia majora

Skeletal Pelvis:
hip dysplasia (rare)

Muscle Soft Tissue:
severe myopathy
diffuse myopathy seen on emg
muscular habitus
thick muscles
stiff muscles

Laboratory Abnormalities:
elevated creatine kinase levels

Growth Height:
short stature

Head And Neck Ears:
low-set ears
overfolded helix
posteriorly rotated ears
sensorineural hearing loss (in some patients)
narrow elongated intertragic notch
more
Head And Neck Teeth:
hypodontia

Head And Neck Eyes:
rod-cone dystrophy
sparse eyebrows
arched eyebrows
bilateral epicanthal folds
lacrimal puncta hypoplasia

Skeletal Limbs:
limited elbow extension

Skeletal Hands:
short hands
interphalangeal webbing
broad hands
bifid distal phalanx of thumb (rare)

Skeletal Spine:
scoliosis (rare)

Head And Neck Mouth:
thin lips
narrow mouth opening

Genitourinary Internal Genitalia Female:
uterus present
primitive bicornuate uterus (in some patients)
gonadal tissue shows few to no leydig cells mixed with mullerian-like tubular structures (in some patients)
absent gonads (in some patients)

Genitourinary:
complete gonadal dysgenesis
complete 46,xy female

Genitourinary Kidneys:
unilateral renal agenesis (in some patients)

Skeletal Feet:
bifid distal phalanx of toe (rare)

Endocrine Features:
hormone evaluation consistent with complete gonadal dysgenesis
elevated follicle-stimulating hormone
elevated luteinizing hormone
no rise in testosterone after human chorionic gonadotropin (hcg) stimulation
low antimullerian hormone (amh)
more

Clinical features from OMIM®:

618419 (Updated 20-May-2021)

Drugs & Therapeutics for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Search Clinical Trials , NIH Clinical Center for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy

Genetic Tests for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Anatomical Context for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

MalaCards organs/tissues related to Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy:

40
Uterus, Bone

Publications for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Articles related to Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy:

# Title Authors PMID Year
1
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. 6 57
30893644 2019

Variations for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

ClinVar genetic disease variations for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP2R3C , LOC101927178 NM_017917.3(PPP2R3C):c.1049T>C (p.Phe350Ser) SNV Pathogenic 627423 rs1566684983 GRCh37: 14:35560340-35560340
GRCh38: 14:35091134-35091134
2 PPP2R3C , LOC101927178 NM_017917.3(PPP2R3C):c.578T>C (p.Leu193Ser) SNV Pathogenic 627424 rs1566411552 GRCh37: 14:35568586-35568586
GRCh38: 14:35099380-35099380
3 PPP2R3C , LOC101927178 NM_017917.3(PPP2R3C):c.308T>C (p.Leu103Pro) SNV Pathogenic 627425 rs754106837 GRCh37: 14:35579121-35579121
GRCh38: 14:35109915-35109915

Expression for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Search GEO for disease gene expression data for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy.

Pathways for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

GO Terms for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and...

Sources for Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, 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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