GDRM
MCID: GND014
MIFTS: 13

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 58 6
Gdrm 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618419

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

OMIM : 58 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)

MalaCards based summary : Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy, is also known as gdrm. 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 skin, uterus and bone.

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
overfolded helix
posteriorly rotated ears
sensorineural hearing loss (in some patients)
narrow elongated intertragic notch
more
Growth Height:
short stature

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis

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

Skeletal Limbs:
limited elbow extension

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

Head And Neck Face:
smooth philtrum
long philtrum
flat face
narrow forehead (in some patients)
metopic ridge (in some patients)

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

Head And Neck Teeth:
hypodontia

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

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

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

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:

42
Skin, Uterus, Bone

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP2R3C NM_017917.3(PPP2R3C): c.1049T> C (p.Phe350Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35091134: 35091134
2 PPP2R3C NM_017917.3(PPP2R3C): c.1049T> C (p.Phe350Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35560340: 35560340
3 PPP2R3C NM_017917.3(PPP2R3C): c.578T> C (p.Leu193Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35568586: 35568586
4 PPP2R3C NM_017917.3(PPP2R3C): c.578T> C (p.Leu193Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35099380: 35099380
5 PPP2R3C NM_017917.3(PPP2R3C): c.308T> C (p.Leu103Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35579121: 35579121
6 PPP2R3C NM_017917.3(PPP2R3C): c.308T> C (p.Leu103Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 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...

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