MCID: GRB001
MIFTS: 7

Grubben De Cock Borghgraef Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Grubben De Cock Borghgraef Syndrome

MalaCards integrated aliases for Grubben De Cock Borghgraef Syndrome:

Name: Grubben De Cock Borghgraef Syndrome 54 74
Severe Growth Retardation, Developmental Delay with Hypotonia, Hypotrophy of the Distal Extremities, Dental Anomalies, and Eczematous Skin 54
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 54
Developmental Delay - Hypotonia - Extremities Hypertrophy 54

Classifications:



External Ids:

UMLS 74 C2931551

Summaries for Grubben De Cock Borghgraef Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2101Disease definitionGrubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Grubben De Cock Borghgraef Syndrome, also known as severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin, is related to growth retardation, small and puffy hands and feet, and eczema. Affiliated tissues include skin.

Related Diseases for Grubben De Cock Borghgraef Syndrome

Diseases related to Grubben De Cock Borghgraef Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth retardation, small and puffy hands and feet, and eczema 11.8

Symptoms & Phenotypes for Grubben De Cock Borghgraef Syndrome

Drugs & Therapeutics for Grubben De Cock Borghgraef Syndrome

Search Clinical Trials , NIH Clinical Center for Grubben De Cock Borghgraef Syndrome

Genetic Tests for Grubben De Cock Borghgraef Syndrome

Anatomical Context for Grubben De Cock Borghgraef Syndrome

MalaCards organs/tissues related to Grubben De Cock Borghgraef Syndrome:

42
Skin

Publications for Grubben De Cock Borghgraef Syndrome

Variations for Grubben De Cock Borghgraef Syndrome

Expression for Grubben De Cock Borghgraef Syndrome

Search GEO for disease gene expression data for Grubben De Cock Borghgraef Syndrome.

Pathways for Grubben De Cock Borghgraef Syndrome

GO Terms for Grubben De Cock Borghgraef Syndrome

Sources for Grubben De Cock Borghgraef Syndrome

3 CDC
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20 FMA
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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