Skeletal Defects, Genital Hypoplasia, and Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

MalaCards integrated aliases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation ⁵⁷ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰

Sgymr ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

skeletal defects, genital hypoplasia, and mental retardation:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 612447

MedGen ⁴² C2676231

MeSH ⁴⁴ D008607 D009139

KEGG ³⁷ H00969

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 34911001 more

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Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

UniProtKB/Swiss-Prot : ⁷⁵ Skeletal defects, genital hypoplasia, and mental retardation: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.

MalaCards based summary : Skeletal Defects, Genital Hypoplasia, and Mental Retardation, is also known as sgymr. An important gene associated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation is ZBTB16 (Zinc Finger And BTB Domain Containing 16). Affiliated tissues include bone, and related phenotypes are intellectual disability and delayed skeletal maturation

Description from OMIM: 612447

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Related Diseases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Symptoms & Phenotypes for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Head:
microcephaly

Growth Height:
short stature

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Mouth:
small mouth
thin lips

Neurologic Central Nervous System:
mental retardation

Head And Neck Face:
dysmorphic face

Skeletal Hands:
absent thumbs, bilaterally

Skeletal Skull:
microcephaly

Head And Neck Eyes:
strabismus

Genitourinary External Genitalia Male:
micropenis

Skeletal Limbs:
delayed bone age
ulnar hypoplasia
radial aplasia/hypoplasia
shortened humeri
shortened femurs
more

Chest Ribs Sternum Clavicles And Scapulae:
13 pairs of ribs
hypoplastic right clavicle
hypoplastic right scapula

Head And Neck Ears:
protruding right ear

Skeletal Feet:
bifid hallux, unilateral

Clinical features from OMIM:

612447

Human phenotypes related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

³² (show all 16)

#	Description	HPO Source Accession
1	intellectual disability ³²	HP:0001249
2	delayed skeletal maturation ³²	HP:0002750
3	microcephaly ³²	HP:0000252
4	short stature ³²	HP:0004322
5	strabismus ³²	HP:0000486
6	cryptorchidism ³²	HP:0000028
7	narrow mouth ³²	HP:0000160
8	thin vermilion border ³²	HP:0000233
9	supernumerary ribs ³²	HP:0005815
10	hypoplasia of the ulna ³²	HP:0003022
11	micropenis ³²	HP:0000054
12	aplasia/hypoplasia of the radius ³²	HP:0006501
13	fibular hypoplasia ³²	HP:0003038
14	short tibia ³²	HP:0005736
15	short femur ³²	HP:0003097
16	absent thumb ³²	HP:0009777

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Drugs & Therapeutics for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Genetic Tests for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Genetic tests related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

#	Genetic test	Affiliating Genes
1	Skeletal Defects, Genital Hypoplasia, and Mental Retardation ²⁹	ZBTB16

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Anatomical Context for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

MalaCards organs/tissues related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

⁴¹

Bone

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Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Genes for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Genes related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZBTB16	Zinc Finger And BTB Domain Containing 16	Protein Coding	1328.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11891687 18611983

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Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

UniProtKB/Swiss-Prot genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ZBTB16	p.Met617Val	VAR_054912	rs121434606

ClinVar genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ZBTB16	NM_006006.5(ZBTB16): c.1849A> G (p.Met617Val)	single nucleotide variant	Pathogenic	rs121434606	GRCh37	Chromosome 11, 114121104: 114121104
2	ZBTB16	NM_006006.5(ZBTB16): c.1849A> G (p.Met617Val)	single nucleotide variant	Pathogenic	rs121434606	GRCh38	Chromosome 11, 114250382: 114250382

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Expression for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Search GEO for disease gene expression data for Skeletal Defects, Genital Hypoplasia, and Mental Retardation.

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Pathways for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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GO Terms for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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⁷⁶ Wikipedia